Incidental Mutation 'R6485:Gm11595'
| ID |
517309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm11595
|
| Ensembl Gene |
ENSMUSG00000078668 |
| Gene Name |
predicted gene 11595 |
| Synonyms |
|
| MMRRC Submission |
044617-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R6485 (G1)
|
| Quality Score |
138.008 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
99662540-99663739 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99663381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 100
(R100C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107440]
|
| AlphaFold |
B1AQA7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000107440
AA Change: R100C
|
| SMART Domains |
Protein: ENSMUSP00000103064
Gene: ENSMUSG00000078668
AA Change: R100C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_B2_2
|
1 |
47 |
7.5e-9 |
PFAM |
|
Pfam:Keratin_B2_2
|
14 |
58 |
2.8e-13 |
PFAM |
|
Pfam:Keratin_B2_2
|
29 |
73 |
1.2e-13 |
PFAM |
|
Pfam:Keratin_B2_2
|
72 |
112 |
2.3e-12 |
PFAM |
|
Pfam:Keratin_B2_2
|
107 |
152 |
4.6e-14 |
PFAM |
|
Pfam:Keratin_B2_2
|
118 |
162 |
1.1e-13 |
PFAM |
|
Pfam:Keratin_B2_2
|
143 |
187 |
3.5e-10 |
PFAM |
|
Pfam:Keratin_B2_2
|
168 |
212 |
5.6e-13 |
PFAM |
|
Pfam:Keratin_B2_2
|
178 |
222 |
2.4e-12 |
PFAM |
|
Pfam:Keratin_B2_2
|
208 |
257 |
1.6e-11 |
PFAM |
|
Pfam:Keratin_B2_2
|
223 |
267 |
4e-14 |
PFAM |
|
Pfam:Keratin_B2_2
|
248 |
289 |
9e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
A |
7: 120,026,390 (GRCm39) |
Y117* |
probably null |
Het |
| Acot5 |
A |
T |
12: 84,122,258 (GRCm39) |
R281W |
probably damaging |
Het |
| Adamts20 |
T |
C |
15: 94,241,852 (GRCm39) |
T719A |
probably benign |
Het |
| Arhgap33 |
T |
C |
7: 30,223,429 (GRCm39) |
T867A |
probably benign |
Het |
| Bcl2a1c |
T |
C |
9: 114,159,278 (GRCm39) |
Y19H |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,974,459 (GRCm39) |
I2285T |
possibly damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,559,655 (GRCm39) |
Y755C |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,396,474 (GRCm39) |
T816A |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,320,294 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,954,069 (GRCm39) |
|
probably null |
Het |
| Cpd |
T |
C |
11: 76,699,533 (GRCm39) |
|
probably null |
Het |
| Crispld2 |
A |
G |
8: 120,756,048 (GRCm39) |
D339G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,333,610 (GRCm39) |
D7046G |
probably damaging |
Het |
| Erbin |
G |
T |
13: 104,004,621 (GRCm39) |
Q136K |
probably damaging |
Het |
| Exph5 |
G |
A |
9: 53,287,991 (GRCm39) |
E1691K |
possibly damaging |
Het |
| Fads6 |
A |
G |
11: 115,176,264 (GRCm39) |
F187S |
probably benign |
Het |
| Foxg1 |
A |
T |
12: 49,431,863 (GRCm39) |
I199F |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,262,894 (GRCm39) |
D640G |
probably benign |
Het |
| Gba2 |
A |
C |
4: 43,574,118 (GRCm39) |
Y112D |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,916,528 (GRCm39) |
I323T |
probably damaging |
Het |
| Gria4 |
T |
A |
9: 4,464,249 (GRCm39) |
Y571F |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,196,373 (GRCm39) |
T485A |
probably benign |
Het |
| Lonrf1 |
A |
G |
8: 36,696,288 (GRCm39) |
|
probably null |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,525 (GRCm39) |
N70S |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,300,473 (GRCm39) |
|
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,903,850 (GRCm39) |
D375G |
probably damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,600 (GRCm39) |
Q143R |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,225,164 (GRCm39) |
S1780* |
probably null |
Het |
| Pdgfra |
A |
T |
5: 75,335,735 (GRCm39) |
|
probably null |
Het |
| Pgd |
A |
T |
4: 149,240,876 (GRCm39) |
|
probably null |
Het |
| Pla2g6 |
T |
C |
15: 79,191,572 (GRCm39) |
I279V |
probably benign |
Het |
| Ptpn21 |
A |
T |
12: 98,665,131 (GRCm39) |
C297* |
probably null |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
T |
C |
10: 85,793,508 (GRCm39) |
I22V |
probably benign |
Het |
| Slc25a30 |
G |
T |
14: 76,012,447 (GRCm39) |
A67E |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,506,612 (GRCm39) |
V605A |
possibly damaging |
Het |
| Ush1c |
A |
T |
7: 45,858,534 (GRCm39) |
S585T |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,657,414 (GRCm39) |
D1785G |
probably damaging |
Het |
| Zic5 |
T |
A |
14: 122,697,052 (GRCm39) |
Y521F |
unknown |
Het |
|
| Other mutations in Gm11595 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00579:Gm11595
|
APN |
11 |
99,662,868 (GRCm39) |
missense |
unknown |
|
|
IGL00987:Gm11595
|
APN |
11 |
99,663,365 (GRCm39) |
missense |
unknown |
|
|
IGL01662:Gm11595
|
APN |
11 |
99,663,498 (GRCm39) |
missense |
unknown |
|
|
IGL01994:Gm11595
|
APN |
11 |
99,663,027 (GRCm39) |
missense |
unknown |
|
|
R0548:Gm11595
|
UTSW |
11 |
99,662,967 (GRCm39) |
missense |
unknown |
|
|
R1923:Gm11595
|
UTSW |
11 |
99,663,365 (GRCm39) |
missense |
unknown |
|
|
R2127:Gm11595
|
UTSW |
11 |
99,663,327 (GRCm39) |
missense |
unknown |
|
|
R2128:Gm11595
|
UTSW |
11 |
99,663,327 (GRCm39) |
missense |
unknown |
|
|
R3807:Gm11595
|
UTSW |
11 |
99,663,380 (GRCm39) |
missense |
unknown |
|
|
R4007:Gm11595
|
UTSW |
11 |
99,662,861 (GRCm39) |
missense |
unknown |
|
|
R5281:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R5283:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R5303:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R5305:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R5306:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R5307:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R5308:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R5561:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R5637:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R5639:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R5718:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R5719:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R5720:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R5721:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R5769:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R5770:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R5771:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R5791:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R5841:Gm11595
|
UTSW |
11 |
99,663,143 (GRCm39) |
missense |
unknown |
|
|
R6054:Gm11595
|
UTSW |
11 |
99,663,474 (GRCm39) |
missense |
unknown |
|
|
R6277:Gm11595
|
UTSW |
11 |
99,663,510 (GRCm39) |
missense |
unknown |
|
|
R6281:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R6282:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R6310:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R6321:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R6322:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R6327:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R6337:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R6368:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R6369:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R6431:Gm11595
|
UTSW |
11 |
99,663,600 (GRCm39) |
missense |
unknown |
|
|
R6483:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R6493:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R6758:Gm11595
|
UTSW |
11 |
99,663,367 (GRCm39) |
nonsense |
probably null |
|
|
R6758:Gm11595
|
UTSW |
11 |
99,663,366 (GRCm39) |
missense |
unknown |
|
|
R7037:Gm11595
|
UTSW |
11 |
99,663,474 (GRCm39) |
missense |
unknown |
|
|
R8053:Gm11595
|
UTSW |
11 |
99,662,954 (GRCm39) |
missense |
unknown |
|
|
R8911:Gm11595
|
UTSW |
11 |
99,663,564 (GRCm39) |
missense |
unknown |
|
|
R9632:Gm11595
|
UTSW |
11 |
99,663,097 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAACTACCACAGCAGGGG -3'
(R):5'- ACACCATGGTCAGTTCCTGTTG -3'
Sequencing Primer
(F):5'- CGACAGCAGCTGGAGATG -3'
(R):5'- TGCCAGACCACCTGCTGTAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation