Incidental Mutation 'IGL01948:Ighv5-17'
| ID |
180980 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ighv5-17
|
| Ensembl Gene |
ENSMUSG00000095571 |
| Gene Name |
immunoglobulin heavy variable 5-17 |
| Synonyms |
Gm16609 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
IGL01948
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
113822769-113823062 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 113823046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 25
(E25V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103459]
|
| AlphaFold |
A0A075B5R1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103459
AA Change: E25V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100240
Gene: ENSMUSG00000095571
AA Change: E25V
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
36 |
117 |
5.67e-35 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
T |
C |
5: 3,627,326 (GRCm39) |
F101L |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,846,751 (GRCm39) |
T552A |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,525,063 (GRCm39) |
D506G |
possibly damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,327 (GRCm39) |
H333R |
probably benign |
Het |
| Fam222b |
T |
C |
11: 78,045,165 (GRCm39) |
V242A |
probably damaging |
Het |
| Gabra2 |
A |
G |
5: 71,119,228 (GRCm39) |
F425L |
probably damaging |
Het |
| Gm10717 |
A |
T |
9: 3,025,819 (GRCm39) |
T135S |
probably damaging |
Het |
| Gm8104 |
A |
T |
14: 42,966,607 (GRCm39) |
M120L |
probably benign |
Het |
| Gsdmc |
T |
C |
15: 63,650,430 (GRCm39) |
D308G |
probably damaging |
Het |
| Hook3 |
T |
A |
8: 26,549,340 (GRCm39) |
E168V |
possibly damaging |
Het |
| Imp4 |
T |
G |
1: 34,483,356 (GRCm39) |
|
probably benign |
Het |
| Ms4a5 |
A |
C |
19: 11,256,717 (GRCm39) |
M60R |
probably damaging |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Prokr2 |
G |
T |
2: 132,215,603 (GRCm39) |
A286E |
probably damaging |
Het |
| Ranbp9 |
T |
A |
13: 43,576,029 (GRCm39) |
Q226L |
probably damaging |
Het |
| Scara3 |
A |
G |
14: 66,168,261 (GRCm39) |
V452A |
probably damaging |
Het |
| Tmem38b |
C |
T |
4: 53,850,530 (GRCm39) |
P171S |
probably damaging |
Het |
| Zdhhc17 |
G |
T |
10: 110,782,137 (GRCm39) |
T519K |
possibly damaging |
Het |
|
| Other mutations in Ighv5-17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02316:Ighv5-17
|
APN |
12 |
113,822,775 (GRCm39) |
nonsense |
probably null |
|
|
IGL03286:Ighv5-17
|
APN |
12 |
113,822,797 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3806:Ighv5-17
|
UTSW |
12 |
113,822,918 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5326:Ighv5-17
|
UTSW |
12 |
113,822,878 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6137:Ighv5-17
|
UTSW |
12 |
113,822,915 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7289:Ighv5-17
|
UTSW |
12 |
113,822,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8550:Ighv5-17
|
UTSW |
12 |
113,822,904 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9445:Ighv5-17
|
UTSW |
12 |
113,822,858 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2014-05-07 |
Incidental Mutation