Incidental Mutation 'IGL00962:Ighv1-75'
| ID |
306599 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ighv1-75
|
| Ensembl Gene |
ENSMUSG00000096020 |
| Gene Name |
immunoglobulin heavy variable 1-75 |
| Synonyms |
Gm16811 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
IGL00962
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
115797570-115797863 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 115797883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103544]
|
| AlphaFold |
A0A075B5Y2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103544
|
| SMART Domains |
Protein: ENSMUSP00000100325
Gene: ENSMUSG00000096020
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IGv
|
36 |
117 |
2.97e-29 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198144
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
C |
T |
18: 67,564,723 (GRCm39) |
|
probably null |
Het |
| Atp8b1 |
C |
T |
18: 64,664,515 (GRCm39) |
A1218T |
probably damaging |
Het |
| AY761185 |
T |
C |
8: 21,434,611 (GRCm39) |
D39G |
possibly damaging |
Het |
| Fam167a |
G |
A |
14: 63,699,904 (GRCm39) |
E155K |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,826,815 (GRCm39) |
G4379D |
probably benign |
Het |
| Fkbp10 |
A |
G |
11: 100,312,643 (GRCm39) |
T300A |
probably benign |
Het |
| Gm6665 |
T |
C |
18: 31,953,204 (GRCm39) |
K57R |
probably benign |
Het |
| Gnb4 |
T |
C |
3: 32,647,318 (GRCm39) |
T86A |
probably benign |
Het |
| H2-Q2 |
A |
G |
17: 35,561,825 (GRCm39) |
Y105C |
probably damaging |
Het |
| Ilvbl |
A |
G |
10: 78,419,172 (GRCm39) |
T474A |
possibly damaging |
Het |
| Shld2 |
A |
T |
14: 33,971,208 (GRCm39) |
V559E |
probably damaging |
Het |
| Slc45a3 |
T |
A |
1: 131,905,265 (GRCm39) |
V96D |
probably damaging |
Het |
| Tmtc3 |
C |
T |
10: 100,307,815 (GRCm39) |
G201R |
probably damaging |
Het |
| Tnfsf14 |
G |
A |
17: 57,499,906 (GRCm39) |
Q83* |
probably null |
Het |
| Trpm2 |
A |
G |
10: 77,779,750 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
T |
15: 37,986,178 (GRCm39) |
F2219I |
probably damaging |
Het |
| Utrn |
C |
T |
10: 12,357,078 (GRCm39) |
V2747I |
possibly damaging |
Het |
| Vcan |
T |
C |
13: 89,810,171 (GRCm39) |
N3207D |
probably damaging |
Het |
| Vmn1r35 |
A |
G |
6: 66,656,361 (GRCm39) |
V103A |
possibly damaging |
Het |
| Vmn2r97 |
A |
G |
17: 19,149,490 (GRCm39) |
T293A |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,071,726 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ighv1-75 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02342:Ighv1-75
|
APN |
12 |
115,797,878 (GRCm39) |
splice site |
probably benign |
|
|
IGL02553:Ighv1-75
|
APN |
12 |
115,797,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2696:Ighv1-75
|
UTSW |
12 |
115,797,826 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5259:Ighv1-75
|
UTSW |
12 |
115,797,797 (GRCm39) |
nonsense |
probably null |
|
|
R5307:Ighv1-75
|
UTSW |
12 |
115,797,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5617:Ighv1-75
|
UTSW |
12 |
115,797,874 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5635:Ighv1-75
|
UTSW |
12 |
115,797,829 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6074:Ighv1-75
|
UTSW |
12 |
115,798,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7658:Ighv1-75
|
UTSW |
12 |
115,797,731 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7873:Ighv1-75
|
UTSW |
12 |
115,797,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8224:Ighv1-75
|
UTSW |
12 |
115,797,859 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8237:Ighv1-75
|
UTSW |
12 |
115,797,876 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R9709:Ighv1-75
|
UTSW |
12 |
115,797,791 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9777:Ighv1-75
|
UTSW |
12 |
115,797,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation