Incidental Mutation 'R0631:Dmbt1'
| ID |
57959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmbt1
|
| Ensembl Gene |
ENSMUSG00000047517 |
| Gene Name |
deleted in malignant brain tumors 1 |
| Synonyms |
Crpd, gp300, hensin, CRP-[b], MUCLIN, ebnerin, CRP-[a], vomeroglandin |
| MMRRC Submission |
038820-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R0631 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
130633787-130723357 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 130699383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 1004
(A1004V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084509]
[ENSMUST00000124096]
[ENSMUST00000208311]
[ENSMUST00000213064]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000084509
AA Change: A1167V
|
| SMART Domains |
Protein: ENSMUSP00000081556
Gene: ENSMUSG00000047517
AA Change: A1167V
| Domain | Start | End | E-Value | Type |
|---|
|
SR
|
37 |
137 |
5.54e-59 |
SMART |
|
SR
|
186 |
286 |
3.6e-58 |
SMART |
|
SR
|
324 |
424 |
1.21e-59 |
SMART |
|
SR
|
463 |
563 |
2.97e-59 |
SMART |
|
SR
|
602 |
702 |
3.36e-58 |
SMART |
|
SR
|
741 |
841 |
5.17e-59 |
SMART |
|
low complexity region
|
848 |
879 |
N/A |
INTRINSIC |
|
CUB
|
884 |
993 |
4.22e-41 |
SMART |
|
CUB
|
1000 |
1109 |
7.35e-41 |
SMART |
|
CUB
|
1126 |
1235 |
3.73e-42 |
SMART |
|
CUB
|
1242 |
1351 |
2.02e-38 |
SMART |
|
SR
|
1371 |
1471 |
3.92e-59 |
SMART |
|
low complexity region
|
1476 |
1488 |
N/A |
INTRINSIC |
|
CUB
|
1494 |
1603 |
6.7e-44 |
SMART |
|
ZP
|
1612 |
1860 |
8.11e-74 |
SMART |
|
transmembrane domain
|
1906 |
1928 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000208311
AA Change: A1178V
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213064
AA Change: A1004V
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1795 |
| 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.] Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. This gene was originally isolated based on its deletion in a medulloblastoma cell line. This gene is expressed with transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the 7.5 kb transcript has not been characterized. The encoded protein precursor is a glycoprotein containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1 may not be a classical tumor suppressor gene, but rather play a role in the interaction of tumor cells and the immune system. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for one null allele display embryonic lethality and an abnormal inner cell mass. Mice homozygous for a different null allele are viable and fertile with an increased susceptibility to induced colitis. [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 |
| 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 |
| Frem1 |
A |
G |
4: 82,890,402 (GRCm39) |
S1007P |
probably damaging |
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 Dmbt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Dmbt1
|
APN |
7 |
130,681,270 (GRCm39) |
intron |
probably benign |
|
|
IGL00161:Dmbt1
|
APN |
7 |
130,711,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00331:Dmbt1
|
APN |
7 |
130,701,020 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL00769:Dmbt1
|
APN |
7 |
130,684,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00792:Dmbt1
|
APN |
7 |
130,699,337 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL00823:Dmbt1
|
APN |
7 |
130,659,888 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01072:Dmbt1
|
APN |
7 |
130,687,098 (GRCm39) |
splice site |
probably benign |
|
|
IGL01317:Dmbt1
|
APN |
7 |
130,642,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01335:Dmbt1
|
APN |
7 |
130,690,497 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01372:Dmbt1
|
APN |
7 |
130,705,409 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01511:Dmbt1
|
APN |
7 |
130,718,457 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01627:Dmbt1
|
APN |
7 |
130,682,915 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01890:Dmbt1
|
APN |
7 |
130,676,149 (GRCm39) |
intron |
probably benign |
|
|
IGL02160:Dmbt1
|
APN |
7 |
130,684,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02186:Dmbt1
|
APN |
7 |
130,694,986 (GRCm39) |
splice site |
probably benign |
|
|
IGL02197:Dmbt1
|
APN |
7 |
130,687,152 (GRCm39) |
splice site |
probably benign |
|
|
IGL02332:Dmbt1
|
APN |
7 |
130,668,343 (GRCm39) |
intron |
probably benign |
|
|
IGL02427:Dmbt1
|
APN |
7 |
130,689,815 (GRCm39) |
splice site |
probably null |
|
|
IGL02726:Dmbt1
|
APN |
7 |
130,676,140 (GRCm39) |
intron |
probably benign |
|
|
IGL02967:Dmbt1
|
APN |
7 |
130,672,919 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03003:Dmbt1
|
APN |
7 |
130,684,409 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03089:Dmbt1
|
APN |
7 |
130,712,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
cavity
|
UTSW |
7 |
130,713,965 (GRCm39) |
missense |
unknown |
|
|
lacunar
|
UTSW |
7 |
130,699,361 (GRCm39) |
missense |
probably damaging |
0.97 |
|
BB005:Dmbt1
|
UTSW |
7 |
130,639,620 (GRCm39) |
missense |
probably benign |
0.16 |
|
BB015:Dmbt1
|
UTSW |
7 |
130,639,620 (GRCm39) |
missense |
probably benign |
0.16 |
|
H8562:Dmbt1
|
UTSW |
7 |
130,713,805 (GRCm39) |
nonsense |
probably null |
|
|
K3955:Dmbt1
|
UTSW |
7 |
130,721,293 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0051:Dmbt1
|
UTSW |
7 |
130,721,225 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0051:Dmbt1
|
UTSW |
7 |
130,721,225 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0257:Dmbt1
|
UTSW |
7 |
130,708,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0388:Dmbt1
|
UTSW |
7 |
130,697,779 (GRCm39) |
splice site |
probably benign |
|
|
R0427:Dmbt1
|
UTSW |
7 |
130,642,632 (GRCm39) |
nonsense |
probably null |
|
|
R0478:Dmbt1
|
UTSW |
7 |
130,642,917 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0502:Dmbt1
|
UTSW |
7 |
130,699,403 (GRCm39) |
splice site |
probably null |
|
|
R0538:Dmbt1
|
UTSW |
7 |
130,651,631 (GRCm39) |
splice site |
probably benign |
|
|
R0626:Dmbt1
|
UTSW |
7 |
130,703,811 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0948:Dmbt1
|
UTSW |
7 |
130,694,847 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1169:Dmbt1
|
UTSW |
7 |
130,676,254 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1413:Dmbt1
|
UTSW |
7 |
130,651,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1458:Dmbt1
|
UTSW |
7 |
130,646,217 (GRCm39) |
splice site |
probably benign |
|
|
R1463:Dmbt1
|
UTSW |
7 |
130,711,366 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1509:Dmbt1
|
UTSW |
7 |
130,676,061 (GRCm39) |
intron |
probably benign |
|
|
R1990:Dmbt1
|
UTSW |
7 |
130,660,018 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2018:Dmbt1
|
UTSW |
7 |
130,712,718 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2019:Dmbt1
|
UTSW |
7 |
130,712,718 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2042:Dmbt1
|
UTSW |
7 |
130,708,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2056:Dmbt1
|
UTSW |
7 |
130,707,900 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2057:Dmbt1
|
UTSW |
7 |
130,707,900 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2058:Dmbt1
|
UTSW |
7 |
130,707,900 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2059:Dmbt1
|
UTSW |
7 |
130,707,900 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2061:Dmbt1
|
UTSW |
7 |
130,700,863 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2092:Dmbt1
|
UTSW |
7 |
130,651,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Dmbt1
|
UTSW |
7 |
130,703,762 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2155:Dmbt1
|
UTSW |
7 |
130,699,305 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2243:Dmbt1
|
UTSW |
7 |
130,648,292 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2256:Dmbt1
|
UTSW |
7 |
130,692,224 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2391:Dmbt1
|
UTSW |
7 |
130,708,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2394:Dmbt1
|
UTSW |
7 |
130,696,464 (GRCm39) |
nonsense |
probably null |
|
|
R3014:Dmbt1
|
UTSW |
7 |
130,633,827 (GRCm39) |
intron |
probably benign |
|
|
R3155:Dmbt1
|
UTSW |
7 |
130,651,887 (GRCm39) |
nonsense |
probably null |
|
|
R3176:Dmbt1
|
UTSW |
7 |
130,689,801 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3276:Dmbt1
|
UTSW |
7 |
130,689,801 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3442:Dmbt1
|
UTSW |
7 |
130,707,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3807:Dmbt1
|
UTSW |
7 |
130,713,819 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4060:Dmbt1
|
UTSW |
7 |
130,675,932 (GRCm39) |
intron |
probably benign |
|
|
R4396:Dmbt1
|
UTSW |
7 |
130,718,361 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4453:Dmbt1
|
UTSW |
7 |
130,642,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Dmbt1
|
UTSW |
7 |
130,651,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5051:Dmbt1
|
UTSW |
7 |
130,696,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5156:Dmbt1
|
UTSW |
7 |
130,699,400 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5225:Dmbt1
|
UTSW |
7 |
130,696,465 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5281:Dmbt1
|
UTSW |
7 |
130,684,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5308:Dmbt1
|
UTSW |
7 |
130,642,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5447:Dmbt1
|
UTSW |
7 |
130,721,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5467:Dmbt1
|
UTSW |
7 |
130,642,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5497:Dmbt1
|
UTSW |
7 |
130,665,133 (GRCm39) |
intron |
probably benign |
|
|
R5526:Dmbt1
|
UTSW |
7 |
130,642,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5554:Dmbt1
|
UTSW |
7 |
130,701,030 (GRCm39) |
nonsense |
probably null |
|
|
R5566:Dmbt1
|
UTSW |
7 |
130,708,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5595:Dmbt1
|
UTSW |
7 |
130,655,797 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6154:Dmbt1
|
UTSW |
7 |
130,711,370 (GRCm39) |
splice site |
probably null |
|
|
R6188:Dmbt1
|
UTSW |
7 |
130,699,361 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6214:Dmbt1
|
UTSW |
7 |
130,668,463 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6215:Dmbt1
|
UTSW |
7 |
130,668,463 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6391:Dmbt1
|
UTSW |
7 |
130,659,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6397:Dmbt1
|
UTSW |
7 |
130,705,308 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6436:Dmbt1
|
UTSW |
7 |
130,718,370 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6603:Dmbt1
|
UTSW |
7 |
130,648,240 (GRCm39) |
splice site |
probably null |
|
|
R6719:Dmbt1
|
UTSW |
7 |
130,721,332 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6781:Dmbt1
|
UTSW |
7 |
130,648,291 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7148:Dmbt1
|
UTSW |
7 |
130,668,464 (GRCm39) |
nonsense |
probably null |
|
|
R7191:Dmbt1
|
UTSW |
7 |
130,646,250 (GRCm39) |
missense |
unknown |
|
|
R7269:Dmbt1
|
UTSW |
7 |
130,668,351 (GRCm39) |
missense |
unknown |
|
|
R7288:Dmbt1
|
UTSW |
7 |
130,685,519 (GRCm39) |
nonsense |
probably null |
|
|
R7296:Dmbt1
|
UTSW |
7 |
130,713,861 (GRCm39) |
missense |
unknown |
|
|
R7349:Dmbt1
|
UTSW |
7 |
130,642,854 (GRCm39) |
missense |
unknown |
|
|
R7386:Dmbt1
|
UTSW |
7 |
130,713,965 (GRCm39) |
missense |
unknown |
|
|
R7428:Dmbt1
|
UTSW |
7 |
130,710,192 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7481:Dmbt1
|
UTSW |
7 |
130,681,241 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7486:Dmbt1
|
UTSW |
7 |
130,668,192 (GRCm39) |
missense |
unknown |
|
|
R7513:Dmbt1
|
UTSW |
7 |
130,692,242 (GRCm39) |
missense |
unknown |
|
|
R7553:Dmbt1
|
UTSW |
7 |
130,706,597 (GRCm39) |
missense |
unknown |
|
|
R7567:Dmbt1
|
UTSW |
7 |
130,663,093 (GRCm39) |
splice site |
probably null |
|
|
R7584:Dmbt1
|
UTSW |
7 |
130,690,481 (GRCm39) |
nonsense |
probably null |
|
|
R7736:Dmbt1
|
UTSW |
7 |
130,718,625 (GRCm39) |
missense |
unknown |
|
|
R7758:Dmbt1
|
UTSW |
7 |
130,722,926 (GRCm39) |
missense |
unknown |
|
|
R7928:Dmbt1
|
UTSW |
7 |
130,639,620 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8080:Dmbt1
|
UTSW |
7 |
130,690,500 (GRCm39) |
missense |
unknown |
|
|
R8098:Dmbt1
|
UTSW |
7 |
130,710,188 (GRCm39) |
nonsense |
probably null |
|
|
R8125:Dmbt1
|
UTSW |
7 |
130,700,953 (GRCm39) |
missense |
unknown |
|
|
R8177:Dmbt1
|
UTSW |
7 |
130,708,162 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8350:Dmbt1
|
UTSW |
7 |
130,687,147 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8366:Dmbt1
|
UTSW |
7 |
130,668,330 (GRCm39) |
missense |
unknown |
|
|
R8378:Dmbt1
|
UTSW |
7 |
130,708,195 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8399:Dmbt1
|
UTSW |
7 |
130,684,317 (GRCm39) |
missense |
unknown |
|
|
R8400:Dmbt1
|
UTSW |
7 |
130,684,317 (GRCm39) |
missense |
unknown |
|
|
R8445:Dmbt1
|
UTSW |
7 |
130,692,110 (GRCm39) |
missense |
unknown |
|
|
R8450:Dmbt1
|
UTSW |
7 |
130,687,147 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8511:Dmbt1
|
UTSW |
7 |
130,703,742 (GRCm39) |
missense |
unknown |
|
|
R8688:Dmbt1
|
UTSW |
7 |
130,659,984 (GRCm39) |
missense |
unknown |
|
|
R8850:Dmbt1
|
UTSW |
7 |
130,692,134 (GRCm39) |
missense |
unknown |
|
|
R8852:Dmbt1
|
UTSW |
7 |
130,642,853 (GRCm39) |
missense |
unknown |
|
|
R8871:Dmbt1
|
UTSW |
7 |
130,718,597 (GRCm39) |
missense |
unknown |
|
|
R8943:Dmbt1
|
UTSW |
7 |
130,721,372 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8978:Dmbt1
|
UTSW |
7 |
130,639,611 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9004:Dmbt1
|
UTSW |
7 |
130,713,798 (GRCm39) |
missense |
unknown |
|
|
R9020:Dmbt1
|
UTSW |
7 |
130,712,787 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9088:Dmbt1
|
UTSW |
7 |
130,718,418 (GRCm39) |
missense |
unknown |
|
|
R9230:Dmbt1
|
UTSW |
7 |
130,639,642 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9304:Dmbt1
|
UTSW |
7 |
130,700,855 (GRCm39) |
missense |
unknown |
|
|
R9377:Dmbt1
|
UTSW |
7 |
130,694,832 (GRCm39) |
missense |
unknown |
|
|
R9428:Dmbt1
|
UTSW |
7 |
130,668,208 (GRCm39) |
missense |
unknown |
|
|
R9474:Dmbt1
|
UTSW |
7 |
130,675,987 (GRCm39) |
missense |
unknown |
|
|
R9573:Dmbt1
|
UTSW |
7 |
130,657,910 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9675:Dmbt1
|
UTSW |
7 |
130,712,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9689:Dmbt1
|
UTSW |
7 |
130,660,015 (GRCm39) |
missense |
unknown |
|
|
R9781:Dmbt1
|
UTSW |
7 |
130,639,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0024:Dmbt1
|
UTSW |
7 |
130,713,977 (GRCm39) |
nonsense |
probably null |
|
|
X0062:Dmbt1
|
UTSW |
7 |
130,696,581 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1176:Dmbt1
|
UTSW |
7 |
130,690,542 (GRCm39) |
missense |
unknown |
|
|
Z1177:Dmbt1
|
UTSW |
7 |
130,684,215 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGACTATTGCCCCTGGTTGTAAG -3'
(R):5'- GGCTGAGGATTCAGAACATGGCAC -3'
Sequencing Primer
(F):5'- GTAAGCTGTGCATTATGATCCAG -3'
(R):5'- CAAATTCATGACAATCTGGGGC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation