Incidental Mutation 'IGL01591:Gm11596'
ID |
91597 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm11596
|
Ensembl Gene |
ENSMUSG00000078261 |
Gene Name |
predicted gene 11596 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
IGL01591
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
99683501-99684179 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 99683624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 165
(C165*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100679
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105058]
|
AlphaFold |
B1AQB0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000105058
AA Change: C165*
|
SMART Domains |
Protein: ENSMUSP00000100679 Gene: ENSMUSG00000078261 AA Change: C165*
Domain | Start | End | E-Value | Type |
Pfam:Keratin_B2_2
|
1 |
48 |
2.7e-9 |
PFAM |
Pfam:Keratin_B2
|
1 |
69 |
1.9e-10 |
PFAM |
Pfam:Keratin_B2_2
|
14 |
58 |
1.1e-13 |
PFAM |
Pfam:Keratin_B2_2
|
39 |
86 |
4.7e-11 |
PFAM |
Pfam:Keratin_B2_2
|
84 |
128 |
8.2e-13 |
PFAM |
Pfam:Keratin_B2_2
|
129 |
173 |
5.2e-12 |
PFAM |
Pfam:Keratin_B2_2
|
164 |
205 |
3.7e-9 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
G |
T |
11: 84,134,146 (GRCm39) |
G420W |
probably damaging |
Het |
Adamts17 |
G |
A |
7: 66,654,144 (GRCm39) |
R458H |
probably damaging |
Het |
Adprs |
T |
C |
4: 126,212,274 (GRCm39) |
T82A |
probably damaging |
Het |
Ccdc158 |
T |
A |
5: 92,809,900 (GRCm39) |
I203L |
probably benign |
Het |
Commd10 |
C |
A |
18: 47,096,735 (GRCm39) |
S47R |
probably benign |
Het |
Crb1 |
T |
C |
1: 139,165,077 (GRCm39) |
T1016A |
probably damaging |
Het |
Crhbp |
T |
A |
13: 95,580,295 (GRCm39) |
I95F |
probably damaging |
Het |
Cyp3a11 |
A |
T |
5: 145,812,291 (GRCm39) |
|
probably benign |
Het |
Dsel |
A |
G |
1: 111,787,425 (GRCm39) |
Y1037H |
probably benign |
Het |
Epha1 |
T |
C |
6: 42,337,485 (GRCm39) |
D898G |
probably damaging |
Het |
Esr2 |
T |
A |
12: 76,168,498 (GRCm39) |
|
probably benign |
Het |
Exosc10 |
T |
A |
4: 148,647,344 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
T |
3: 39,064,524 (GRCm39) |
R4827* |
probably null |
Het |
Heatr5b |
A |
G |
17: 79,115,901 (GRCm39) |
S852P |
probably benign |
Het |
Mcm3ap |
C |
T |
10: 76,306,639 (GRCm39) |
P251S |
probably benign |
Het |
Nmur2 |
A |
G |
11: 55,917,825 (GRCm39) |
V388A |
probably benign |
Het |
Parp14 |
T |
C |
16: 35,678,877 (GRCm39) |
T364A |
possibly damaging |
Het |
Rarb |
T |
A |
14: 16,434,207 (GRCm38) |
I370F |
possibly damaging |
Het |
Rnf32 |
T |
A |
5: 29,429,272 (GRCm39) |
I283N |
probably damaging |
Het |
Smg8 |
A |
G |
11: 86,975,979 (GRCm39) |
V77A |
probably damaging |
Het |
Tnn |
T |
C |
1: 159,953,144 (GRCm39) |
E632G |
probably damaging |
Het |
Trip11 |
A |
T |
12: 101,849,604 (GRCm39) |
S1487T |
probably damaging |
Het |
Vmn2r58 |
T |
C |
7: 41,514,753 (GRCm39) |
K72R |
probably benign |
Het |
Vmn2r92 |
A |
G |
17: 18,405,423 (GRCm39) |
I856V |
unknown |
Het |
|
Other mutations in Gm11596 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02452:Gm11596
|
APN |
11 |
99,683,806 (GRCm39) |
missense |
unknown |
|
BB005:Gm11596
|
UTSW |
11 |
99,683,622 (GRCm39) |
missense |
unknown |
|
BB015:Gm11596
|
UTSW |
11 |
99,683,622 (GRCm39) |
missense |
unknown |
|
R0256:Gm11596
|
UTSW |
11 |
99,683,542 (GRCm39) |
missense |
unknown |
|
R0299:Gm11596
|
UTSW |
11 |
99,683,770 (GRCm39) |
missense |
unknown |
|
R1126:Gm11596
|
UTSW |
11 |
99,683,699 (GRCm39) |
nonsense |
probably null |
|
R2143:Gm11596
|
UTSW |
11 |
99,683,789 (GRCm39) |
nonsense |
probably null |
|
R2144:Gm11596
|
UTSW |
11 |
99,683,789 (GRCm39) |
nonsense |
probably null |
|
R2372:Gm11596
|
UTSW |
11 |
99,684,082 (GRCm39) |
nonsense |
probably null |
|
R4865:Gm11596
|
UTSW |
11 |
99,684,064 (GRCm39) |
unclassified |
probably benign |
|
R5045:Gm11596
|
UTSW |
11 |
99,683,695 (GRCm39) |
missense |
unknown |
|
R5076:Gm11596
|
UTSW |
11 |
99,683,698 (GRCm39) |
missense |
unknown |
|
R5301:Gm11596
|
UTSW |
11 |
99,683,847 (GRCm39) |
missense |
unknown |
|
R5579:Gm11596
|
UTSW |
11 |
99,683,717 (GRCm39) |
nonsense |
probably null |
|
R6153:Gm11596
|
UTSW |
11 |
99,683,524 (GRCm39) |
missense |
unknown |
|
R7467:Gm11596
|
UTSW |
11 |
99,683,962 (GRCm39) |
missense |
unknown |
|
R7773:Gm11596
|
UTSW |
11 |
99,683,667 (GRCm39) |
missense |
unknown |
|
R7928:Gm11596
|
UTSW |
11 |
99,683,622 (GRCm39) |
missense |
unknown |
|
R8685:Gm11596
|
UTSW |
11 |
99,683,816 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2013-12-09 |