Incidental Mutation 'R2900:Ighv1-4'
| ID |
477218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ighv1-4
|
| Ensembl Gene |
ENSMUSG00000095442 |
| Gene Name |
immunoglobulin heavy variable 1-4 |
| Synonyms |
Gm16694 |
| MMRRC Submission |
040488-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.379)
|
| Stock # |
R2900 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
114450756-114451049 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114450788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 107
(S107P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103493]
|
| AlphaFold |
A0A075B5T4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103493
AA Change: S107P
PolyPhen 2
Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000100274
Gene: ENSMUSG00000095442
AA Change: S107P
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
36 |
117 |
4.98e-31 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
C |
T |
10: 41,300,751 (GRCm39) |
H1654Y |
unknown |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cmtm1 |
A |
G |
8: 105,036,176 (GRCm39) |
V151A |
possibly damaging |
Het |
| Coro6 |
A |
G |
11: 77,358,639 (GRCm39) |
I233V |
probably benign |
Het |
| Cyp26b1 |
C |
T |
6: 84,553,623 (GRCm39) |
R252H |
possibly damaging |
Het |
| Dcdc2a |
C |
A |
13: 25,304,481 (GRCm39) |
D351E |
probably benign |
Het |
| Flnc |
T |
C |
6: 29,448,584 (GRCm39) |
F1274S |
probably damaging |
Het |
| Fut7 |
A |
G |
2: 25,313,923 (GRCm39) |
K33E |
probably benign |
Het |
| Gpsm1 |
G |
T |
2: 26,235,174 (GRCm39) |
V480L |
probably benign |
Het |
| Hoxc9 |
A |
T |
15: 102,890,185 (GRCm39) |
H34L |
probably benign |
Het |
| Itsn2 |
T |
C |
12: 4,680,713 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,853,228 (GRCm39) |
T109A |
probably damaging |
Het |
| Med18 |
G |
A |
4: 132,187,128 (GRCm39) |
R124C |
probably damaging |
Het |
| Ms4a6d |
C |
T |
19: 11,567,508 (GRCm39) |
G23D |
probably damaging |
Het |
| Pan2 |
T |
A |
10: 128,144,211 (GRCm39) |
D135E |
probably benign |
Het |
| Pdlim1 |
C |
T |
19: 40,211,519 (GRCm39) |
C258Y |
probably damaging |
Het |
| Ppp6r2 |
C |
A |
15: 89,166,198 (GRCm39) |
P734H |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Stat5a |
G |
A |
11: 100,764,957 (GRCm39) |
V227M |
probably benign |
Het |
| Strip2 |
A |
T |
6: 29,939,034 (GRCm39) |
|
probably null |
Het |
| Syn2 |
C |
T |
6: 115,214,295 (GRCm39) |
T173I |
possibly damaging |
Het |
| Thbd |
C |
A |
2: 148,248,134 (GRCm39) |
*578L |
probably null |
Het |
| Tnfrsf11a |
T |
C |
1: 105,754,786 (GRCm39) |
I286T |
probably benign |
Het |
| Zfp566 |
T |
C |
7: 29,777,668 (GRCm39) |
D171G |
possibly damaging |
Het |
| Zfp938 |
T |
C |
10: 82,061,340 (GRCm39) |
R427G |
possibly damaging |
Het |
|
| Other mutations in Ighv1-4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02380:Ighv1-4
|
APN |
12 |
114,450,753 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02661:Ighv1-4
|
APN |
12 |
114,450,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02736:Ighv1-4
|
APN |
12 |
114,450,872 (GRCm39) |
missense |
probably benign |
0.12 |
|
PIT4403001:Ighv1-4
|
UTSW |
12 |
114,450,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0066:Ighv1-4
|
UTSW |
12 |
114,450,989 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3014:Ighv1-4
|
UTSW |
12 |
114,450,769 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4074:Ighv1-4
|
UTSW |
12 |
114,451,147 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5505:Ighv1-4
|
UTSW |
12 |
114,451,057 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6207:Ighv1-4
|
UTSW |
12 |
114,451,142 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R6309:Ighv1-4
|
UTSW |
12 |
114,451,015 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7286:Ighv1-4
|
UTSW |
12 |
114,450,941 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7299:Ighv1-4
|
UTSW |
12 |
114,450,908 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7300:Ighv1-4
|
UTSW |
12 |
114,450,908 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7917:Ighv1-4
|
UTSW |
12 |
114,451,165 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8374:Ighv1-4
|
UTSW |
12 |
114,450,899 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9010:Ighv1-4
|
UTSW |
12 |
114,450,949 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9127:Ighv1-4
|
UTSW |
12 |
114,450,879 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Ighv1-4
|
UTSW |
12 |
114,451,024 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
|
| Posted On |
2017-05-15 |
Incidental Mutation