Incidental Mutation 'R6322:Gm11595'
| ID |
510167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm11595
|
| Ensembl Gene |
ENSMUSG00000078668 |
| Gene Name |
predicted gene 11595 |
| Synonyms |
|
| MMRRC Submission |
044476-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R6322 (G1)
|
| Quality Score |
212.009 |
|
Status
|
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: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,559,843 (GRCm39) |
V211A |
probably benign |
Het |
| Adora3 |
G |
A |
3: 105,814,760 (GRCm39) |
R170H |
probably benign |
Het |
| Aldh1l1 |
T |
C |
6: 90,539,680 (GRCm39) |
I203T |
probably benign |
Het |
| Alox12b |
T |
C |
11: 69,049,199 (GRCm39) |
Y83H |
possibly damaging |
Het |
| Atcay |
A |
T |
10: 81,049,125 (GRCm39) |
I159K |
probably damaging |
Het |
| Blvra |
A |
G |
2: 126,922,459 (GRCm39) |
|
probably benign |
Het |
| Catspere2 |
T |
A |
1: 177,845,296 (GRCm39) |
Y105* |
probably null |
Het |
| Celsr2 |
A |
G |
3: 108,319,890 (GRCm39) |
F974S |
probably damaging |
Het |
| Cfap44 |
C |
T |
16: 44,254,029 (GRCm39) |
R918* |
probably null |
Het |
| Cpa6 |
T |
A |
1: 10,547,346 (GRCm39) |
R181S |
possibly damaging |
Het |
| Dlg1 |
A |
G |
16: 31,675,297 (GRCm39) |
N730D |
probably damaging |
Het |
| Eif2ak1 |
A |
G |
5: 143,835,913 (GRCm39) |
T535A |
probably benign |
Het |
| Fam13c |
A |
T |
10: 70,334,721 (GRCm39) |
D149V |
probably damaging |
Het |
| Fam171a1 |
G |
A |
2: 3,227,392 (GRCm39) |
V717I |
probably benign |
Het |
| Fchsd1 |
A |
G |
18: 38,098,753 (GRCm39) |
V290A |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm15446 |
A |
T |
5: 110,091,383 (GRCm39) |
H545L |
probably damaging |
Het |
| Heatr9 |
T |
G |
11: 83,407,538 (GRCm39) |
K215T |
possibly damaging |
Het |
| Hfe |
T |
A |
13: 23,889,879 (GRCm39) |
H210L |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,066,543 (GRCm39) |
T1113A |
probably damaging |
Het |
| Lipe |
A |
T |
7: 25,079,961 (GRCm39) |
V686E |
probably damaging |
Het |
| Map3k20 |
T |
G |
2: 72,263,814 (GRCm39) |
L488V |
possibly damaging |
Het |
| Moxd1 |
C |
T |
10: 24,160,709 (GRCm39) |
T454I |
probably damaging |
Het |
| Mrpl58 |
C |
T |
11: 115,301,492 (GRCm39) |
R189* |
probably null |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nkx1-1 |
T |
C |
5: 33,588,389 (GRCm39) |
N300D |
probably damaging |
Het |
| Nrm |
A |
T |
17: 36,175,605 (GRCm39) |
Q237L |
possibly damaging |
Het |
| Numa1 |
T |
C |
7: 101,650,127 (GRCm39) |
L1286P |
probably damaging |
Het |
| Or4f4-ps1 |
T |
C |
2: 111,329,729 (GRCm39) |
F44S |
possibly damaging |
Het |
| Pappa |
C |
A |
4: 65,232,896 (GRCm39) |
A1345D |
probably damaging |
Het |
| Pds5a |
T |
C |
5: 65,854,177 (GRCm39) |
I22V |
probably benign |
Het |
| Phf21b |
C |
A |
15: 84,671,580 (GRCm39) |
R438L |
possibly damaging |
Het |
| Pik3r5 |
T |
C |
11: 68,383,567 (GRCm39) |
L462P |
probably benign |
Het |
| Plagl2 |
T |
C |
2: 153,073,806 (GRCm39) |
E365G |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,436,675 (GRCm39) |
Y677C |
possibly damaging |
Het |
| Pramel13 |
A |
G |
4: 144,119,475 (GRCm39) |
M364T |
probably benign |
Het |
| Prkcd |
C |
A |
14: 30,321,620 (GRCm39) |
G410W |
probably damaging |
Het |
| Rgl1 |
T |
C |
1: 152,428,186 (GRCm39) |
I348V |
probably damaging |
Het |
| Rnmt |
C |
T |
18: 68,452,285 (GRCm39) |
P386S |
probably damaging |
Het |
| Rtn3 |
G |
A |
19: 7,435,503 (GRCm39) |
P163L |
possibly damaging |
Het |
| Sfxn1 |
T |
C |
13: 54,258,869 (GRCm39) |
C275R |
possibly damaging |
Het |
| Sh2b2 |
A |
G |
5: 136,253,042 (GRCm39) |
S377P |
probably damaging |
Het |
| Sh3bp1 |
C |
T |
15: 78,795,715 (GRCm39) |
P615S |
probably damaging |
Het |
| Simc1 |
T |
C |
13: 54,698,382 (GRCm39) |
L1334S |
probably damaging |
Het |
| Slc9a2 |
C |
A |
1: 40,781,813 (GRCm39) |
Y347* |
probably null |
Het |
| Snapc5 |
T |
A |
9: 64,089,455 (GRCm39) |
I71K |
probably damaging |
Het |
| Tmem161a |
T |
C |
8: 70,634,764 (GRCm39) |
F447S |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,442,147 (GRCm39) |
C739R |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,983,808 (GRCm39) |
V28D |
possibly damaging |
Het |
| Ubr3 |
C |
T |
2: 69,786,429 (GRCm39) |
Q848* |
probably null |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
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 |
|
|
R6310:Gm11595
|
UTSW |
11 |
99,663,381 (GRCm39) |
missense |
unknown |
|
|
R6321: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'- ACCATGGTCAGTTCCTGTTG -3'
Sequencing Primer
(F):5'- CGACAGCAGCTGGAGATG -3'
(R):5'- TGCCAGACCACCTGCTGTAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation