Incidental Mutation 'R1923:Gm11595'
| ID |
213234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm11595
|
| Ensembl Gene |
ENSMUSG00000078668 |
| Gene Name |
predicted gene 11595 |
| Synonyms |
|
| MMRRC Submission |
039941-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R1923 (G1)
|
| Quality Score |
207 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
99662540-99663739 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99663365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 105
(V105E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107440]
|
| AlphaFold |
B1AQA7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000107440
AA Change: V105E
|
| SMART Domains |
Protein: ENSMUSP00000103064
Gene: ENSMUSG00000078668
AA Change: V105E
| 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 |
0.1442 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,743 (GRCm39) |
E163G |
probably damaging |
Het |
| 4921513D11Rik |
A |
G |
17: 79,935,562 (GRCm39) |
|
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,749,459 (GRCm39) |
F195I |
possibly damaging |
Het |
| Acsl6 |
T |
C |
11: 54,216,417 (GRCm39) |
Y135H |
probably damaging |
Het |
| Ankhd1 |
C |
A |
18: 36,781,083 (GRCm39) |
A2045E |
probably benign |
Het |
| Ap5z1 |
A |
G |
5: 142,458,096 (GRCm39) |
H423R |
probably benign |
Het |
| Arsk |
T |
A |
13: 76,214,985 (GRCm39) |
|
probably benign |
Het |
| Bpi |
G |
A |
2: 158,103,083 (GRCm39) |
G76D |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,739,861 (GRCm39) |
T983A |
probably damaging |
Het |
| Ccdc192 |
A |
T |
18: 57,666,959 (GRCm39) |
D12V |
probably damaging |
Het |
| Chmp2b |
A |
T |
16: 65,342,213 (GRCm39) |
M125K |
possibly damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,511,491 (GRCm39) |
I26L |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,315,337 (GRCm39) |
Y3032C |
probably damaging |
Het |
| Ehbp1 |
T |
A |
11: 22,101,850 (GRCm39) |
D226V |
probably damaging |
Het |
| Enpp6 |
A |
T |
8: 47,535,541 (GRCm39) |
D362V |
probably damaging |
Het |
| Fam53b |
A |
G |
7: 132,317,521 (GRCm39) |
S374P |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,260,066 (GRCm39) |
|
probably benign |
Het |
| Fndc7 |
C |
T |
3: 108,784,003 (GRCm39) |
R202H |
probably benign |
Het |
| Frmd4b |
T |
G |
6: 97,265,415 (GRCm39) |
D951A |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,877,162 (GRCm39) |
Y107H |
probably damaging |
Het |
| Krt26 |
CTAGTA |
CTA |
11: 99,224,352 (GRCm39) |
|
probably benign |
Het |
| Lrriq4 |
C |
A |
3: 30,713,242 (GRCm39) |
Q448K |
probably benign |
Het |
| Ly6g5c |
A |
G |
17: 35,330,863 (GRCm39) |
I128M |
possibly damaging |
Het |
| Mroh9 |
T |
A |
1: 162,903,860 (GRCm39) |
S51C |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,970,828 (GRCm39) |
S2G |
probably benign |
Het |
| Nat8f4 |
A |
G |
6: 85,878,497 (GRCm39) |
Y9H |
probably damaging |
Het |
| Negr1 |
T |
C |
3: 156,267,836 (GRCm39) |
V2A |
probably benign |
Het |
| Or2y1 |
C |
T |
11: 49,386,131 (GRCm39) |
T257I |
probably damaging |
Het |
| Or7g19 |
C |
T |
9: 18,856,781 (GRCm39) |
T279I |
probably benign |
Het |
| Or8k32 |
T |
G |
2: 86,368,857 (GRCm39) |
Y132S |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,895,707 (GRCm39) |
C107Y |
probably damaging |
Het |
| Pdgfra |
C |
A |
5: 75,324,394 (GRCm39) |
T83K |
probably benign |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Retreg1 |
A |
G |
15: 25,969,924 (GRCm39) |
D109G |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,189,613 (GRCm39) |
W674R |
probably damaging |
Het |
| Rgs18 |
T |
C |
1: 144,631,818 (GRCm39) |
D98G |
possibly damaging |
Het |
| Rnf146 |
A |
G |
10: 29,223,715 (GRCm39) |
F57S |
probably damaging |
Het |
| Skic3 |
T |
A |
13: 76,282,889 (GRCm39) |
V737D |
probably damaging |
Het |
| Slc22a20 |
C |
A |
19: 6,021,464 (GRCm39) |
V513L |
probably benign |
Het |
| Stox2 |
G |
T |
8: 47,646,661 (GRCm39) |
F266L |
probably damaging |
Het |
| Tbx21 |
C |
T |
11: 96,990,863 (GRCm39) |
V272M |
probably damaging |
Het |
| Tmc7 |
A |
G |
7: 118,144,850 (GRCm39) |
F570S |
probably benign |
Het |
| Tmem236 |
T |
C |
2: 14,224,117 (GRCm39) |
I302T |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,862,776 (GRCm39) |
L506S |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,218,694 (GRCm39) |
I78V |
probably damaging |
Het |
| Xpo4 |
A |
T |
14: 57,828,328 (GRCm39) |
V844D |
probably damaging |
Het |
| Zfp507 |
C |
T |
7: 35,493,150 (GRCm39) |
R631Q |
probably damaging |
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 |
|
|
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 |
|
|
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'- GCGACAGCAGCTGGAGATG -3'
(R):5'- TGCCAGACCACCTGCTGTAG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation