Incidental Mutation 'R5791:Gm11595'
| ID |
446987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm11595
|
| Ensembl Gene |
ENSMUSG00000078668 |
| Gene Name |
predicted gene 11595 |
| Synonyms |
|
| MMRRC Submission |
043207-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R5791 (G1)
|
| Quality Score |
225 |
|
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: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
G |
C |
8: 41,207,257 (GRCm39) |
Q174H |
probably benign |
Het |
| Adipor2 |
A |
T |
6: 119,338,866 (GRCm39) |
M129K |
possibly damaging |
Het |
| Arhgap29 |
T |
A |
3: 121,807,894 (GRCm39) |
M616K |
probably damaging |
Het |
| Calcrl |
A |
T |
2: 84,181,609 (GRCm39) |
F180I |
probably damaging |
Het |
| Cdh4 |
T |
C |
2: 179,537,560 (GRCm39) |
V864A |
probably damaging |
Het |
| Cep78 |
A |
G |
19: 15,938,436 (GRCm39) |
F504S |
probably benign |
Het |
| Coasy |
A |
G |
11: 100,975,211 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,530,696 (GRCm39) |
N751S |
probably benign |
Het |
| Ecpas |
C |
T |
4: 58,814,027 (GRCm39) |
E1360K |
possibly damaging |
Het |
| Ecpas |
T |
A |
4: 58,822,111 (GRCm39) |
D1152V |
probably damaging |
Het |
| Eea1 |
T |
A |
10: 95,855,857 (GRCm39) |
N631K |
probably benign |
Het |
| Fam149b |
A |
G |
14: 20,401,394 (GRCm39) |
K27R |
probably damaging |
Het |
| Fbxw26 |
A |
G |
9: 109,574,221 (GRCm39) |
W42R |
probably damaging |
Het |
| Gas6 |
A |
G |
8: 13,520,217 (GRCm39) |
|
probably null |
Het |
| Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
| Gmppa |
T |
C |
1: 75,418,899 (GRCm39) |
V324A |
possibly damaging |
Het |
| Gstm2 |
C |
T |
3: 107,891,444 (GRCm39) |
|
probably null |
Het |
| Kcng3 |
A |
G |
17: 83,895,639 (GRCm39) |
S276P |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,901,254 (GRCm39) |
S520P |
probably benign |
Het |
| Lrrn2 |
A |
G |
1: 132,865,505 (GRCm39) |
N190S |
probably benign |
Het |
| Lrwd1 |
G |
C |
5: 136,159,887 (GRCm39) |
A392G |
probably benign |
Het |
| Mab21l2 |
A |
G |
3: 86,454,044 (GRCm39) |
Y319H |
probably damaging |
Het |
| Ndufv3 |
A |
G |
17: 31,746,382 (GRCm39) |
N91D |
probably benign |
Het |
| Nfatc2 |
T |
A |
2: 168,378,313 (GRCm39) |
M451L |
probably benign |
Het |
| Or10g9b |
A |
T |
9: 39,918,030 (GRCm39) |
S72T |
probably damaging |
Het |
| Pcdhgb2 |
G |
T |
18: 37,825,393 (GRCm39) |
V795F |
possibly damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,099,430 (GRCm39) |
M843K |
possibly damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,073,617 (GRCm39) |
N221K |
probably benign |
Het |
| Ppox |
T |
C |
1: 171,104,885 (GRCm39) |
Y422C |
probably damaging |
Het |
| Retreg3 |
A |
G |
11: 100,991,769 (GRCm39) |
S55P |
probably damaging |
Het |
| Rnf103 |
C |
A |
6: 71,485,909 (GRCm39) |
T180K |
probably damaging |
Het |
| Tbl3 |
A |
T |
17: 24,923,408 (GRCm39) |
L307H |
probably damaging |
Het |
| Tex26 |
A |
T |
5: 149,363,240 (GRCm39) |
|
probably null |
Het |
| Tln2 |
A |
T |
9: 67,293,887 (GRCm39) |
I247K |
probably damaging |
Het |
| Txlnb |
T |
C |
10: 17,674,876 (GRCm39) |
S10P |
probably benign |
Het |
| Vwde |
C |
A |
6: 13,195,985 (GRCm39) |
E347* |
probably null |
Het |
| Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
| Zfp14 |
A |
G |
7: 29,737,687 (GRCm39) |
S433P |
probably damaging |
Het |
| Zfp647 |
G |
T |
15: 76,802,206 (GRCm39) |
A2E |
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 |
|
|
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 |
|
|
R6485: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'- ACCATGGTCAGTTCCTGTTGTG -3'
Sequencing Primer
(F):5'- CGACAGCAGCTGGAGATG -3'
(R):5'- TGCCAGACCACCTGCTGTAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation