Incidental Mutation 'R0631:Frem1'
| ID |
57926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frem1
|
| Ensembl Gene |
ENSMUSG00000059049 |
| Gene Name |
Fras1 related extracellular matrix protein 1 |
| Synonyms |
eyes2, crf11, eye, QBRICK, heb |
| MMRRC Submission |
038820-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.712)
|
| Stock # |
R0631 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
82816157-82970576 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82890402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1007
(S1007P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071708]
[ENSMUST00000107230]
[ENSMUST00000170248]
|
| AlphaFold |
Q684R7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071708
AA Change: S1026P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000071627
Gene: ENSMUSG00000059049
AA Change: S1026P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_3
|
364 |
508 |
1.7e-37 |
PFAM |
|
Pfam:Cadherin_3
|
509 |
623 |
3.7e-18 |
PFAM |
|
Pfam:Cadherin_3
|
592 |
709 |
8.4e-16 |
PFAM |
|
Pfam:Cadherin_3
|
746 |
894 |
4.8e-26 |
PFAM |
|
Pfam:Cadherin_3
|
863 |
1009 |
2.8e-30 |
PFAM |
|
Pfam:Cadherin_3
|
1024 |
1115 |
6.4e-13 |
PFAM |
|
Pfam:Cadherin_3
|
1119 |
1252 |
1.4e-17 |
PFAM |
|
Pfam:Cadherin_3
|
1243 |
1393 |
8.2e-35 |
PFAM |
|
Pfam:Cadherin_3
|
1378 |
1506 |
2e-22 |
PFAM |
|
Pfam:Cadherin_3
|
1506 |
1616 |
1e-29 |
PFAM |
|
Pfam:Cadherin_3
|
1617 |
1744 |
1.5e-14 |
PFAM |
|
Pfam:Calx-beta
|
1749 |
1848 |
2.6e-10 |
PFAM |
|
low complexity region
|
1894 |
1910 |
N/A |
INTRINSIC |
|
CLECT
|
2065 |
2188 |
2.25e-27 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107230
AA Change: S1007P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102849
Gene: ENSMUSG00000059049
AA Change: S1007P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
296 |
967 |
9.01e-39 |
PROSPERO |
|
internal_repeat_1
|
1026 |
1705 |
9.01e-39 |
PROSPERO |
|
Pfam:Calx-beta
|
1730 |
1829 |
6.7e-10 |
PFAM |
|
low complexity region
|
1875 |
1891 |
N/A |
INTRINSIC |
|
CLECT
|
2046 |
2169 |
2.25e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127886
|
| SMART Domains |
Protein: ENSMUSP00000122467
Gene: ENSMUSG00000059049
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cadherin_3
|
26 |
158 |
1.1e-18 |
PFAM |
|
Pfam:Cadherin_3
|
150 |
300 |
4.6e-36 |
PFAM |
|
Pfam:Cadherin_3
|
285 |
408 |
6e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170248
AA Change: S1008P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125809
Gene: ENSMUSG00000059049
AA Change: S1008P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_3
|
365 |
509 |
1.3e-37 |
PFAM |
|
Pfam:Cadherin_3
|
510 |
623 |
4.5e-18 |
PFAM |
|
Pfam:Cadherin_3
|
593 |
711 |
6.1e-16 |
PFAM |
|
Pfam:Cadherin_3
|
728 |
876 |
2.7e-27 |
PFAM |
|
Pfam:Cadherin_3
|
845 |
991 |
2.1e-30 |
PFAM |
|
Pfam:Cadherin_3
|
1006 |
1097 |
4.8e-13 |
PFAM |
|
Pfam:Cadherin_3
|
1101 |
1234 |
1e-17 |
PFAM |
|
Pfam:Cadherin_3
|
1225 |
1375 |
6.1e-35 |
PFAM |
|
Pfam:Cadherin_3
|
1360 |
1488 |
1.5e-22 |
PFAM |
|
Pfam:Cadherin_3
|
1488 |
1598 |
7.5e-30 |
PFAM |
|
Pfam:Cadherin_3
|
1599 |
1726 |
1.1e-14 |
PFAM |
|
Pfam:Calx-beta
|
1731 |
1830 |
6.4e-10 |
PFAM |
|
low complexity region
|
1876 |
1892 |
N/A |
INTRINSIC |
|
CLECT
|
2047 |
2170 |
2.25e-27 |
SMART |
|
| Meta Mutation Damage Score |
0.0980 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.1%
- 10x: 98.1%
- 20x: 96.8%
|
| Validation Efficiency |
97% (129/133) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]
PHENOTYPE: Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 131 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
C |
8: 60,982,479 (GRCm39) |
|
probably benign |
Het |
| Afap1l2 |
T |
C |
19: 56,904,517 (GRCm39) |
E594G |
probably benign |
Het |
| Ak8 |
T |
G |
2: 28,625,677 (GRCm39) |
I240S |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,264,744 (GRCm39) |
V174A |
probably damaging |
Het |
| Alppl2 |
G |
A |
1: 87,017,095 (GRCm39) |
T66I |
probably damaging |
Het |
| Ankrd61 |
T |
A |
5: 143,831,697 (GRCm39) |
I36F |
probably damaging |
Het |
| Antxrl |
T |
A |
14: 33,780,758 (GRCm39) |
|
probably null |
Het |
| Arhgef2 |
G |
C |
3: 88,541,743 (GRCm39) |
V244L |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,416,481 (GRCm39) |
I1098T |
unknown |
Het |
| Atr |
T |
C |
9: 95,756,830 (GRCm39) |
V903A |
possibly damaging |
Het |
| B3gnt6 |
C |
A |
7: 97,842,899 (GRCm39) |
A354S |
probably benign |
Het |
| Bnc1 |
A |
T |
7: 81,624,114 (GRCm39) |
I371N |
probably damaging |
Het |
| Camsap1 |
A |
T |
2: 25,823,659 (GRCm39) |
S1464T |
probably damaging |
Het |
| Cand2 |
G |
A |
6: 115,780,766 (GRCm39) |
E1217K |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,274,331 (GRCm39) |
I728T |
probably damaging |
Het |
| Ccdc88a |
A |
T |
11: 29,443,752 (GRCm39) |
M1378L |
probably damaging |
Het |
| Ccdc9 |
C |
A |
7: 16,012,384 (GRCm39) |
W266L |
probably damaging |
Het |
| Cct6b |
C |
A |
11: 82,627,914 (GRCm39) |
|
probably null |
Het |
| Cd177 |
T |
C |
7: 24,456,111 (GRCm39) |
E219G |
probably benign |
Het |
| Cdkal1 |
A |
T |
13: 29,538,667 (GRCm39) |
Y497* |
probably null |
Het |
| Chmp2a |
T |
C |
7: 12,766,371 (GRCm39) |
E107G |
probably damaging |
Het |
| Chrna2 |
T |
G |
14: 66,386,757 (GRCm39) |
V301G |
probably benign |
Het |
| Chrna7 |
A |
G |
7: 62,749,391 (GRCm39) |
C364R |
probably benign |
Het |
| Cltc |
G |
T |
11: 86,603,439 (GRCm39) |
L796I |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,610,658 (GRCm39) |
T249A |
probably damaging |
Het |
| Col13a1 |
G |
A |
10: 61,723,129 (GRCm39) |
Q270* |
probably null |
Het |
| Col6a1 |
C |
T |
10: 76,545,569 (GRCm39) |
V968M |
probably benign |
Het |
| Copb1 |
C |
A |
7: 113,832,517 (GRCm39) |
V511F |
probably benign |
Het |
| Daw1 |
C |
G |
1: 83,174,981 (GRCm39) |
S160R |
probably damaging |
Het |
| Ddx46 |
A |
G |
13: 55,787,590 (GRCm39) |
|
probably benign |
Het |
| Depdc7 |
T |
C |
2: 104,552,332 (GRCm39) |
K492E |
possibly damaging |
Het |
| Dmbt1 |
C |
T |
7: 130,699,383 (GRCm39) |
A1004V |
possibly damaging |
Het |
| Dnah7b |
G |
A |
1: 46,280,152 (GRCm39) |
V2694I |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,300,831 (GRCm39) |
F63I |
probably benign |
Het |
| Edc4 |
C |
A |
8: 106,617,424 (GRCm39) |
A1052E |
possibly damaging |
Het |
| Eif2s2 |
T |
A |
2: 154,726,278 (GRCm39) |
K129M |
probably damaging |
Het |
| Emx2 |
A |
G |
19: 59,452,460 (GRCm39) |
D248G |
probably damaging |
Het |
| Erich6b |
T |
C |
14: 75,896,449 (GRCm39) |
|
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,394,400 (GRCm39) |
K507E |
probably benign |
Het |
| Fanci |
T |
A |
7: 79,055,953 (GRCm39) |
V195E |
probably damaging |
Het |
| Fgfr2 |
T |
G |
7: 129,828,969 (GRCm39) |
|
probably benign |
Het |
| Fry |
T |
C |
5: 150,419,817 (GRCm39) |
I993T |
possibly damaging |
Het |
| Fst |
A |
G |
13: 114,591,038 (GRCm39) |
S244P |
possibly damaging |
Het |
| Gcc1 |
T |
C |
6: 28,421,009 (GRCm39) |
T103A |
probably damaging |
Het |
| Gdf2 |
C |
T |
14: 33,663,178 (GRCm39) |
P24L |
probably damaging |
Het |
| Gja3 |
T |
C |
14: 57,274,219 (GRCm39) |
D51G |
possibly damaging |
Het |
| Gm10305 |
A |
G |
4: 99,161,313 (GRCm39) |
D74G |
unknown |
Het |
| Gm12689 |
G |
T |
4: 99,184,258 (GRCm39) |
G37V |
unknown |
Het |
| Gm5424 |
C |
T |
10: 61,907,313 (GRCm39) |
|
noncoding transcript |
Het |
| Hephl1 |
T |
C |
9: 14,995,820 (GRCm39) |
E434G |
probably benign |
Het |
| Hoatz |
T |
A |
9: 51,013,253 (GRCm39) |
R6S |
probably benign |
Het |
| Htatip2 |
T |
C |
7: 49,423,059 (GRCm39) |
C205R |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,936,161 (GRCm39) |
|
probably null |
Het |
| Ints2 |
T |
C |
11: 86,124,022 (GRCm39) |
I589V |
probably benign |
Het |
| Itgae |
T |
A |
11: 73,005,733 (GRCm39) |
V299D |
probably damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,559,852 (GRCm39) |
|
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,401,565 (GRCm39) |
|
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,932,364 (GRCm39) |
|
probably benign |
Het |
| Kif18a |
T |
A |
2: 109,128,667 (GRCm39) |
|
probably benign |
Het |
| Klhl29 |
T |
C |
12: 5,144,883 (GRCm39) |
T406A |
probably benign |
Het |
| Litaf |
A |
T |
16: 10,784,276 (GRCm39) |
|
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,375,726 (GRCm39) |
I71F |
probably benign |
Het |
| Lrit3 |
A |
C |
3: 129,582,204 (GRCm39) |
C594W |
probably damaging |
Het |
| Lrp6 |
T |
A |
6: 134,456,738 (GRCm39) |
Q842L |
possibly damaging |
Het |
| Lrrcc1 |
T |
A |
3: 14,605,179 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,349,317 (GRCm39) |
L1829* |
probably null |
Het |
| Mapk1ip1 |
T |
C |
7: 138,437,684 (GRCm39) |
T249A |
possibly damaging |
Het |
| Mfap4 |
T |
C |
11: 61,378,006 (GRCm39) |
F173L |
probably damaging |
Het |
| Mfsd9 |
C |
A |
1: 40,829,634 (GRCm39) |
|
probably benign |
Het |
| Mgat4b |
T |
C |
11: 50,121,590 (GRCm39) |
S69P |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,306,117 (GRCm39) |
V620D |
probably damaging |
Het |
| Moxd1 |
C |
T |
10: 24,128,852 (GRCm39) |
T201I |
probably damaging |
Het |
| Msh4 |
G |
C |
3: 153,572,057 (GRCm39) |
D774E |
probably benign |
Het |
| Myg1 |
C |
T |
15: 102,240,284 (GRCm39) |
R37C |
probably benign |
Het |
| Myrf |
C |
A |
19: 10,206,246 (GRCm39) |
A57S |
probably benign |
Het |
| Ndst1 |
G |
A |
18: 60,833,431 (GRCm39) |
|
probably benign |
Het |
| Nedd4l |
A |
T |
18: 65,341,574 (GRCm39) |
|
probably benign |
Het |
| Neil2 |
T |
A |
14: 63,420,849 (GRCm39) |
I281F |
possibly damaging |
Het |
| Nfatc2 |
T |
A |
2: 168,432,035 (GRCm39) |
D26V |
probably benign |
Het |
| Nt5c |
A |
G |
11: 115,381,540 (GRCm39) |
|
probably null |
Het |
| Or13a24 |
T |
G |
7: 140,154,420 (GRCm39) |
M118R |
probably damaging |
Het |
| Or2w1b |
G |
T |
13: 21,300,078 (GRCm39) |
C72F |
probably damaging |
Het |
| Or2z8 |
T |
A |
8: 72,812,166 (GRCm39) |
I214N |
probably damaging |
Het |
| Or5ac20 |
A |
G |
16: 59,104,570 (GRCm39) |
C97R |
possibly damaging |
Het |
| Or5t15 |
T |
C |
2: 86,681,311 (GRCm39) |
T244A |
probably benign |
Het |
| Ovch2 |
A |
G |
7: 107,381,228 (GRCm39) |
S557P |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,255,202 (GRCm39) |
S262P |
probably benign |
Het |
| Pla2g6 |
T |
A |
15: 79,190,596 (GRCm39) |
H322L |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,606,640 (GRCm39) |
L1079Q |
probably benign |
Het |
| Plekhg4 |
T |
A |
8: 106,105,934 (GRCm39) |
V777D |
probably damaging |
Het |
| Plekhg5 |
A |
G |
4: 152,196,876 (GRCm39) |
D747G |
possibly damaging |
Het |
| Poln |
C |
A |
5: 34,276,302 (GRCm39) |
V318F |
possibly damaging |
Het |
| Pou5f2 |
T |
A |
13: 78,173,873 (GRCm39) |
S272T |
probably benign |
Het |
| Ppp1r3e |
T |
G |
14: 55,114,073 (GRCm39) |
S200R |
possibly damaging |
Het |
| Prl7d1 |
G |
A |
13: 27,894,165 (GRCm39) |
P135S |
probably benign |
Het |
| Ptgs2 |
G |
A |
1: 149,980,288 (GRCm39) |
V409I |
probably benign |
Het |
| Ptk2b |
T |
C |
14: 66,415,200 (GRCm39) |
T276A |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,204,921 (GRCm39) |
T747A |
probably damaging |
Het |
| Qrfpr |
A |
G |
3: 36,276,138 (GRCm39) |
I84T |
probably damaging |
Het |
| Rab44 |
A |
G |
17: 29,358,118 (GRCm39) |
D102G |
possibly damaging |
Het |
| Rimoc1 |
A |
G |
15: 4,015,971 (GRCm39) |
|
probably benign |
Het |
| Rnf125 |
A |
T |
18: 21,112,140 (GRCm39) |
D57V |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,450,851 (GRCm39) |
F392L |
probably damaging |
Het |
| Rttn |
A |
G |
18: 89,007,670 (GRCm39) |
N435S |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,933,418 (GRCm39) |
T1500A |
probably damaging |
Het |
| Sgsm1 |
A |
G |
5: 113,432,989 (GRCm39) |
|
probably benign |
Het |
| Sgsm3 |
A |
T |
15: 80,895,937 (GRCm39) |
*751C |
probably null |
Het |
| Slc35c2 |
A |
C |
2: 165,122,849 (GRCm39) |
L145R |
probably damaging |
Het |
| Slc4a7 |
A |
T |
14: 14,757,382 (GRCm38) |
E396V |
probably damaging |
Het |
| Smarca4 |
G |
C |
9: 21,570,280 (GRCm39) |
|
probably benign |
Het |
| Snapc3 |
T |
A |
4: 83,336,039 (GRCm39) |
V17D |
probably damaging |
Het |
| Snta1 |
G |
T |
2: 154,218,992 (GRCm39) |
Q448K |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,790,014 (GRCm39) |
D1334G |
probably benign |
Het |
| Stard5 |
A |
G |
7: 83,281,965 (GRCm39) |
R41G |
probably damaging |
Het |
| Stxbp5 |
T |
A |
10: 9,660,102 (GRCm39) |
N731I |
probably benign |
Het |
| Tmem135 |
T |
A |
7: 88,792,996 (GRCm39) |
K413* |
probably null |
Het |
| Tmem38a |
G |
A |
8: 73,333,862 (GRCm39) |
V114I |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,298,282 (GRCm39) |
T1057A |
probably damaging |
Het |
| Ttc23l |
A |
T |
15: 10,540,066 (GRCm39) |
L139Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,640 (GRCm39) |
|
probably null |
Het |
| Tuba3b |
A |
G |
6: 145,565,302 (GRCm39) |
T257A |
probably damaging |
Het |
| Tubgcp6 |
A |
C |
15: 88,985,190 (GRCm39) |
Y1633D |
probably damaging |
Het |
| Txnl1 |
C |
T |
18: 63,804,644 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,182,849 (GRCm39) |
Q3186R |
possibly damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,812,478 (GRCm39) |
S514C |
probably null |
Het |
| Whrn |
G |
A |
4: 63,337,726 (GRCm39) |
T545I |
probably damaging |
Het |
| Zdhhc20 |
T |
C |
14: 58,095,097 (GRCm39) |
H154R |
probably damaging |
Het |
| Zfp462 |
A |
T |
4: 55,007,563 (GRCm39) |
M1L |
possibly damaging |
Het |
| Zfp831 |
A |
G |
2: 174,487,083 (GRCm39) |
K586R |
possibly damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,872 (GRCm39) |
H290L |
possibly damaging |
Het |
| Zfpm1 |
C |
T |
8: 123,063,613 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Frem1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Frem1
|
APN |
4 |
82,877,626 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01069:Frem1
|
APN |
4 |
82,932,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01106:Frem1
|
APN |
4 |
82,840,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01398:Frem1
|
APN |
4 |
82,868,599 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01617:Frem1
|
APN |
4 |
82,854,376 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01647:Frem1
|
APN |
4 |
82,868,593 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL01690:Frem1
|
APN |
4 |
82,877,533 (GRCm39) |
splice site |
probably benign |
|
|
IGL02006:Frem1
|
APN |
4 |
82,911,037 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02069:Frem1
|
APN |
4 |
82,821,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02131:Frem1
|
APN |
4 |
82,843,091 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02225:Frem1
|
APN |
4 |
82,858,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02439:Frem1
|
APN |
4 |
82,874,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02567:Frem1
|
APN |
4 |
82,918,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02647:Frem1
|
APN |
4 |
82,919,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02653:Frem1
|
APN |
4 |
82,877,571 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02831:Frem1
|
APN |
4 |
82,874,395 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02997:Frem1
|
APN |
4 |
82,853,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03005:Frem1
|
APN |
4 |
82,912,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03036:Frem1
|
APN |
4 |
82,877,576 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03193:Frem1
|
APN |
4 |
82,912,263 (GRCm39) |
splice site |
probably benign |
|
|
IGL03218:Frem1
|
APN |
4 |
82,832,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03235:Frem1
|
APN |
4 |
82,938,992 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03243:Frem1
|
APN |
4 |
82,932,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bat
|
UTSW |
4 |
82,983,060 (GRCm38) |
intron |
probably benign |
|
|
blister
|
UTSW |
4 |
82,939,007 (GRCm39) |
missense |
probably benign |
0.28 |
|
boy
|
UTSW |
4 |
82,874,492 (GRCm39) |
missense |
probably benign |
0.16 |
|
Bubblie
|
UTSW |
4 |
82,888,870 (GRCm39) |
critical splice donor site |
probably null |
|
|
magicbear
|
UTSW |
4 |
82,920,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
major
|
UTSW |
4 |
82,907,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6324_Frem1_643
|
UTSW |
4 |
82,901,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4131001:Frem1
|
UTSW |
4 |
82,924,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4466001:Frem1
|
UTSW |
4 |
82,890,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4472001:Frem1
|
UTSW |
4 |
82,890,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4515001:Frem1
|
UTSW |
4 |
82,818,663 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4531001:Frem1
|
UTSW |
4 |
82,868,517 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0010:Frem1
|
UTSW |
4 |
82,918,335 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0010:Frem1
|
UTSW |
4 |
82,918,335 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0115:Frem1
|
UTSW |
4 |
82,854,406 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0125:Frem1
|
UTSW |
4 |
82,930,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0280:Frem1
|
UTSW |
4 |
82,887,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Frem1
|
UTSW |
4 |
82,830,874 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0519:Frem1
|
UTSW |
4 |
82,888,870 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0645:Frem1
|
UTSW |
4 |
82,907,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0781:Frem1
|
UTSW |
4 |
82,868,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1110:Frem1
|
UTSW |
4 |
82,868,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1115:Frem1
|
UTSW |
4 |
82,939,007 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1130:Frem1
|
UTSW |
4 |
82,834,865 (GRCm39) |
splice site |
probably null |
|
|
R1173:Frem1
|
UTSW |
4 |
82,868,589 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1349:Frem1
|
UTSW |
4 |
82,840,542 (GRCm39) |
splice site |
probably benign |
|
|
R1464:Frem1
|
UTSW |
4 |
82,930,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Frem1
|
UTSW |
4 |
82,930,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1658:Frem1
|
UTSW |
4 |
82,920,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1672:Frem1
|
UTSW |
4 |
82,917,128 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1831:Frem1
|
UTSW |
4 |
82,939,074 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1851:Frem1
|
UTSW |
4 |
82,868,737 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2014:Frem1
|
UTSW |
4 |
82,924,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2021:Frem1
|
UTSW |
4 |
82,831,795 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2022:Frem1
|
UTSW |
4 |
82,831,795 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2023:Frem1
|
UTSW |
4 |
82,831,795 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2183:Frem1
|
UTSW |
4 |
82,909,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2437:Frem1
|
UTSW |
4 |
82,918,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2520:Frem1
|
UTSW |
4 |
82,868,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3195:Frem1
|
UTSW |
4 |
82,932,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3196:Frem1
|
UTSW |
4 |
82,932,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3408:Frem1
|
UTSW |
4 |
82,930,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3411:Frem1
|
UTSW |
4 |
82,881,416 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R3742:Frem1
|
UTSW |
4 |
82,930,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3829:Frem1
|
UTSW |
4 |
82,917,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3888:Frem1
|
UTSW |
4 |
82,831,844 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4329:Frem1
|
UTSW |
4 |
82,904,774 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4364:Frem1
|
UTSW |
4 |
82,831,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4411:Frem1
|
UTSW |
4 |
82,881,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4624:Frem1
|
UTSW |
4 |
82,907,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4687:Frem1
|
UTSW |
4 |
82,938,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4764:Frem1
|
UTSW |
4 |
82,907,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Frem1
|
UTSW |
4 |
82,834,865 (GRCm39) |
splice site |
probably benign |
|
|
R4802:Frem1
|
UTSW |
4 |
82,834,865 (GRCm39) |
splice site |
probably benign |
|
|
R4854:Frem1
|
UTSW |
4 |
82,834,995 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4872:Frem1
|
UTSW |
4 |
82,881,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Frem1
|
UTSW |
4 |
82,884,371 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5007:Frem1
|
UTSW |
4 |
82,859,049 (GRCm39) |
intron |
probably benign |
|
|
R5103:Frem1
|
UTSW |
4 |
82,909,849 (GRCm39) |
missense |
probably benign |
|
|
R5369:Frem1
|
UTSW |
4 |
82,919,976 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5494:Frem1
|
UTSW |
4 |
82,858,990 (GRCm39) |
makesense |
probably null |
|
|
R5694:Frem1
|
UTSW |
4 |
82,912,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5780:Frem1
|
UTSW |
4 |
82,868,652 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5813:Frem1
|
UTSW |
4 |
82,918,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5843:Frem1
|
UTSW |
4 |
82,854,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5914:Frem1
|
UTSW |
4 |
82,920,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5985:Frem1
|
UTSW |
4 |
82,884,287 (GRCm39) |
missense |
probably benign |
|
|
R6091:Frem1
|
UTSW |
4 |
82,818,796 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6165:Frem1
|
UTSW |
4 |
82,874,492 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6324:Frem1
|
UTSW |
4 |
82,901,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6369:Frem1
|
UTSW |
4 |
82,832,029 (GRCm39) |
splice site |
probably null |
|
|
R6414:Frem1
|
UTSW |
4 |
82,858,773 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6421:Frem1
|
UTSW |
4 |
82,912,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6434:Frem1
|
UTSW |
4 |
82,884,253 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6453:Frem1
|
UTSW |
4 |
82,833,062 (GRCm39) |
nonsense |
probably null |
|
|
R6598:Frem1
|
UTSW |
4 |
82,932,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6720:Frem1
|
UTSW |
4 |
82,932,069 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6862:Frem1
|
UTSW |
4 |
82,930,251 (GRCm39) |
nonsense |
probably null |
|
|
R6922:Frem1
|
UTSW |
4 |
82,840,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6931:Frem1
|
UTSW |
4 |
82,888,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6992:Frem1
|
UTSW |
4 |
82,858,599 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6995:Frem1
|
UTSW |
4 |
82,904,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:Frem1
|
UTSW |
4 |
82,904,798 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7104:Frem1
|
UTSW |
4 |
82,858,918 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7146:Frem1
|
UTSW |
4 |
82,840,532 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7174:Frem1
|
UTSW |
4 |
82,840,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7327:Frem1
|
UTSW |
4 |
82,938,992 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7343:Frem1
|
UTSW |
4 |
82,912,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7368:Frem1
|
UTSW |
4 |
82,884,381 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7392:Frem1
|
UTSW |
4 |
82,932,064 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7465:Frem1
|
UTSW |
4 |
82,833,072 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7499:Frem1
|
UTSW |
4 |
82,924,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7536:Frem1
|
UTSW |
4 |
82,874,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Frem1
|
UTSW |
4 |
82,877,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7753:Frem1
|
UTSW |
4 |
82,832,217 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7790:Frem1
|
UTSW |
4 |
82,907,401 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7818:Frem1
|
UTSW |
4 |
82,932,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7877:Frem1
|
UTSW |
4 |
82,932,049 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7878:Frem1
|
UTSW |
4 |
82,938,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7886:Frem1
|
UTSW |
4 |
82,934,643 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7901:Frem1
|
UTSW |
4 |
82,877,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7976:Frem1
|
UTSW |
4 |
82,919,946 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8240:Frem1
|
UTSW |
4 |
82,874,485 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8305:Frem1
|
UTSW |
4 |
82,918,226 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8415:Frem1
|
UTSW |
4 |
82,918,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8751:Frem1
|
UTSW |
4 |
82,889,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8819:Frem1
|
UTSW |
4 |
82,821,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8820:Frem1
|
UTSW |
4 |
82,821,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8829:Frem1
|
UTSW |
4 |
82,918,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8834:Frem1
|
UTSW |
4 |
82,922,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8857:Frem1
|
UTSW |
4 |
82,922,280 (GRCm39) |
intron |
probably benign |
|
|
R8910:Frem1
|
UTSW |
4 |
82,868,694 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9036:Frem1
|
UTSW |
4 |
82,831,785 (GRCm39) |
missense |
probably benign |
|
|
R9228:Frem1
|
UTSW |
4 |
82,920,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9382:Frem1
|
UTSW |
4 |
82,901,622 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9441:Frem1
|
UTSW |
4 |
82,924,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9492:Frem1
|
UTSW |
4 |
82,920,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9517:Frem1
|
UTSW |
4 |
82,901,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9640:Frem1
|
UTSW |
4 |
82,831,896 (GRCm39) |
missense |
probably benign |
|
|
R9641:Frem1
|
UTSW |
4 |
82,877,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0013:Frem1
|
UTSW |
4 |
82,833,045 (GRCm39) |
missense |
probably benign |
0.38 |
|
X0017:Frem1
|
UTSW |
4 |
82,909,870 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1088:Frem1
|
UTSW |
4 |
82,890,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Frem1
|
UTSW |
4 |
82,918,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Frem1
|
UTSW |
4 |
82,918,506 (GRCm39) |
missense |
probably benign |
0.39 |
|
Z1177:Frem1
|
UTSW |
4 |
82,858,552 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Frem1
|
UTSW |
4 |
82,934,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCTCCCTCCAGCAGGCAAATG -3'
(R):5'- TTTCCAAAAGTCAGGACTCAGCACG -3'
Sequencing Primer
(F):5'- GTCCTTGTTGTAGAATGCACACAC -3'
(R):5'- TCAGGACTCAGCACGGTTATG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation