Incidental Mutation 'R4270:Igkv9-120'
| ID |
322124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igkv9-120
|
| Ensembl Gene |
ENSMUSG00000094872 |
| Gene Name |
immunoglobulin kappa chain variable 9-120 |
| Synonyms |
Gm5571 |
| MMRRC Submission |
041075-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R4270 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
68026967-68027438 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 68027351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 88
(R88S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103316]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103316
AA Change: R88S
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000100117
Gene: ENSMUSG00000094872
AA Change: R88S
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
40 |
112 |
9.99e-13 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ash1l |
T |
A |
3: 88,889,347 (GRCm39) |
C409S |
probably benign |
Het |
| Aspg |
T |
C |
12: 112,087,629 (GRCm39) |
S327P |
probably damaging |
Het |
| Ccdc88c |
G |
T |
12: 100,913,478 (GRCm39) |
Q516K |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,391,258 (GRCm39) |
D326V |
possibly damaging |
Het |
| Ctsa |
G |
T |
2: 164,677,222 (GRCm39) |
M210I |
probably benign |
Het |
| Ctsh |
A |
G |
9: 89,943,651 (GRCm39) |
H92R |
probably damaging |
Het |
| Fanca |
A |
G |
8: 123,995,533 (GRCm39) |
L117P |
probably damaging |
Het |
| Foxo1 |
A |
G |
3: 52,252,826 (GRCm39) |
T330A |
probably benign |
Het |
| Ighv1-43 |
C |
G |
12: 114,909,772 (GRCm39) |
G50A |
probably benign |
Het |
| Kif26a |
C |
T |
12: 112,139,848 (GRCm39) |
S460F |
probably damaging |
Het |
| Mxra8 |
C |
A |
4: 155,925,594 (GRCm39) |
P98Q |
probably damaging |
Het |
| Nbr1 |
T |
C |
11: 101,458,048 (GRCm39) |
Y276H |
possibly damaging |
Het |
| Nckap1l |
T |
C |
15: 103,381,549 (GRCm39) |
L430P |
possibly damaging |
Het |
| Nubp2 |
A |
T |
17: 25,104,567 (GRCm39) |
C58S |
probably damaging |
Het |
| Or8c10 |
A |
G |
9: 38,278,997 (GRCm39) |
N52D |
probably damaging |
Het |
| Pramel51 |
A |
T |
12: 88,145,053 (GRCm39) |
I91K |
probably damaging |
Het |
| Rbms3 |
T |
A |
9: 116,885,816 (GRCm39) |
N94I |
probably damaging |
Het |
| Rimbp2 |
T |
G |
5: 128,896,841 (GRCm39) |
N23T |
probably benign |
Het |
| Rwdd3 |
T |
C |
3: 120,952,550 (GRCm39) |
D147G |
probably damaging |
Het |
| Slc30a5 |
T |
G |
13: 100,965,521 (GRCm39) |
R29S |
probably benign |
Het |
| Syt10 |
C |
A |
15: 89,675,095 (GRCm39) |
R417L |
probably benign |
Het |
| Trim58 |
T |
C |
11: 58,542,093 (GRCm39) |
V351A |
probably damaging |
Het |
| Trpc3 |
G |
T |
3: 36,717,074 (GRCm39) |
Y321* |
probably null |
Het |
| Vmn2r107 |
G |
T |
17: 20,576,041 (GRCm39) |
V124F |
probably benign |
Het |
| Xkr7 |
T |
C |
2: 152,896,235 (GRCm39) |
V363A |
possibly damaging |
Het |
| Zfp597 |
A |
T |
16: 3,689,954 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Igkv9-120 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Igkv9-120
|
APN |
6 |
68,026,971 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02248:Igkv9-120
|
APN |
6 |
68,027,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02410:Igkv9-120
|
APN |
6 |
68,027,027 (GRCm39) |
splice site |
probably benign |
|
|
IGL03093:Igkv9-120
|
APN |
6 |
68,027,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2847:Igkv9-120
|
UTSW |
6 |
68,027,128 (GRCm39) |
splice site |
probably benign |
|
|
R2848:Igkv9-120
|
UTSW |
6 |
68,027,128 (GRCm39) |
splice site |
probably benign |
|
|
R3749:Igkv9-120
|
UTSW |
6 |
68,026,985 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3889:Igkv9-120
|
UTSW |
6 |
68,027,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4235:Igkv9-120
|
UTSW |
6 |
68,027,317 (GRCm39) |
missense |
probably benign |
|
|
R4760:Igkv9-120
|
UTSW |
6 |
68,027,351 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4767:Igkv9-120
|
UTSW |
6 |
68,027,351 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4768:Igkv9-120
|
UTSW |
6 |
68,027,351 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4769:Igkv9-120
|
UTSW |
6 |
68,027,351 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5365:Igkv9-120
|
UTSW |
6 |
68,027,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5671:Igkv9-120
|
UTSW |
6 |
68,027,257 (GRCm39) |
nonsense |
probably null |
|
|
R7749:Igkv9-120
|
UTSW |
6 |
68,027,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATGACCCAGTCTCCATCCTC -3'
(R):5'- CTCAGAGAGACCTGTTCCATCTG -3'
Sequencing Primer
(F):5'- TCCTTATCTGCCTCTCTGGG -3'
(R):5'- GAGACCTGTTCCATCTGAGAAATTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation