Incidental Mutation 'R6310:Gm11595'
ID |
509552 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm11595
|
Ensembl Gene |
ENSMUSG00000078668 |
Gene Name |
predicted gene 11595 |
Synonyms |
|
MMRRC Submission |
044414-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R6310 (G1)
|
Quality Score |
225.009 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acly |
C |
G |
11: 100,373,046 (GRCm39) |
G856A |
possibly damaging |
Het |
Adgrb3 |
T |
A |
1: 25,150,799 (GRCm39) |
M1145L |
probably benign |
Het |
Akap13 |
A |
T |
7: 75,398,941 (GRCm39) |
H2673L |
probably damaging |
Het |
Bmpr1b |
A |
G |
3: 141,570,297 (GRCm39) |
S131P |
probably damaging |
Het |
Cep72 |
A |
C |
13: 74,201,144 (GRCm39) |
S175A |
possibly damaging |
Het |
Chd2 |
C |
T |
7: 73,102,912 (GRCm39) |
E1358K |
probably damaging |
Het |
Cmip |
T |
C |
8: 118,156,549 (GRCm39) |
I308T |
possibly damaging |
Het |
Cps1 |
A |
T |
1: 67,182,140 (GRCm39) |
N118I |
probably benign |
Het |
Cux1 |
C |
T |
5: 136,304,018 (GRCm39) |
G1265D |
probably benign |
Het |
Ddx24 |
C |
A |
12: 103,390,166 (GRCm39) |
R275L |
probably damaging |
Het |
Dhx58 |
T |
C |
11: 100,590,193 (GRCm39) |
S364G |
probably benign |
Het |
Dis3l |
A |
C |
9: 64,229,857 (GRCm39) |
V274G |
probably benign |
Het |
Fryl |
A |
T |
5: 73,349,104 (GRCm39) |
|
probably benign |
Het |
Gbf1 |
A |
G |
19: 46,268,444 (GRCm39) |
H1272R |
probably damaging |
Het |
Gjb3 |
A |
G |
4: 127,220,433 (GRCm39) |
V33A |
probably damaging |
Het |
Gm9964 |
T |
C |
11: 79,187,476 (GRCm39) |
|
probably benign |
Het |
Grk5 |
T |
C |
19: 61,069,349 (GRCm39) |
I342T |
probably damaging |
Het |
Hnf1b |
T |
A |
11: 83,795,737 (GRCm39) |
C527S |
probably damaging |
Het |
Hoxd4 |
G |
T |
2: 74,558,734 (GRCm39) |
A186S |
possibly damaging |
Het |
Ighv1-78 |
G |
A |
12: 115,832,584 (GRCm39) |
H54Y |
probably benign |
Het |
Intu |
T |
A |
3: 40,655,721 (GRCm39) |
L936* |
probably null |
Het |
Kcp |
G |
A |
6: 29,493,257 (GRCm39) |
R89W |
probably damaging |
Het |
Kctd3 |
T |
C |
1: 188,704,435 (GRCm39) |
T779A |
probably benign |
Het |
Muc16 |
G |
A |
9: 18,553,246 (GRCm39) |
P4349L |
probably benign |
Het |
Nedd9 |
T |
C |
13: 41,471,928 (GRCm39) |
T178A |
probably benign |
Het |
Nuak2 |
G |
T |
1: 132,257,699 (GRCm39) |
A204S |
probably damaging |
Het |
Or51f1 |
T |
A |
7: 102,506,412 (GRCm39) |
I26F |
probably benign |
Het |
Or6c214 |
T |
C |
10: 129,590,528 (GRCm39) |
R264G |
probably benign |
Het |
Pcdhac2 |
C |
A |
18: 37,278,824 (GRCm39) |
Y601* |
probably null |
Het |
Pla2g4a |
T |
A |
1: 149,717,977 (GRCm39) |
D624V |
possibly damaging |
Het |
Plxnb1 |
T |
C |
9: 108,938,796 (GRCm39) |
V1386A |
probably damaging |
Het |
Plxnd1 |
T |
A |
6: 115,953,697 (GRCm39) |
L623F |
possibly damaging |
Het |
Pms2 |
T |
A |
5: 143,860,401 (GRCm39) |
S71R |
probably benign |
Het |
Prkg1 |
T |
C |
19: 30,546,651 (GRCm39) |
D683G |
probably damaging |
Het |
Rasgrp3 |
T |
A |
17: 75,801,204 (GRCm39) |
Y45N |
probably damaging |
Het |
Rfc4 |
T |
C |
16: 22,933,459 (GRCm39) |
I233M |
probably benign |
Het |
Sema3a |
G |
A |
5: 13,606,986 (GRCm39) |
G274S |
probably damaging |
Het |
Sesn1 |
T |
C |
10: 41,772,074 (GRCm39) |
L201P |
probably damaging |
Het |
Setx |
G |
A |
2: 29,066,947 (GRCm39) |
V2363I |
possibly damaging |
Het |
Sh3glb1 |
A |
G |
3: 144,403,228 (GRCm39) |
S81P |
probably damaging |
Het |
Sik3 |
A |
G |
9: 46,089,784 (GRCm39) |
S218G |
probably damaging |
Het |
Slc12a2 |
C |
G |
18: 58,048,578 (GRCm39) |
F781L |
probably damaging |
Het |
Slc12a6 |
A |
T |
2: 112,166,184 (GRCm39) |
I188F |
probably damaging |
Het |
Slc34a2 |
A |
G |
5: 53,222,139 (GRCm39) |
|
probably null |
Het |
Slc35f4 |
A |
G |
14: 49,559,914 (GRCm39) |
C44R |
probably damaging |
Het |
Sytl1 |
G |
A |
4: 132,988,309 (GRCm39) |
P16S |
probably benign |
Het |
Taok3 |
C |
T |
5: 117,394,003 (GRCm39) |
T592M |
possibly damaging |
Het |
Tgfb1i1 |
T |
C |
7: 127,852,009 (GRCm39) |
F303L |
probably damaging |
Het |
Txk |
T |
C |
5: 72,893,760 (GRCm39) |
S7G |
probably benign |
Het |
Utp4 |
T |
C |
8: 107,645,253 (GRCm39) |
V550A |
probably benign |
Het |
Vmn1r229 |
G |
A |
17: 21,034,976 (GRCm39) |
D74N |
probably benign |
Het |
Zfp638 |
A |
G |
6: 83,844,212 (GRCm39) |
D25G |
possibly damaging |
Het |
Zfp646 |
T |
C |
7: 127,483,079 (GRCm39) |
V1752A |
probably benign |
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 |
|
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 |
2018-04-02 |