Incidental Mutation 'R5415:Igkv4-80'
| ID |
427681 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igkv4-80
|
| Ensembl Gene |
ENSMUSG00000076540 |
| Gene Name |
immunoglobulin kappa variable 4-80 |
| Synonyms |
Gm16729 |
| MMRRC Submission |
042984-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R5415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
68993542-68994064 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 68993649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 81
(S81A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103341]
|
| AlphaFold |
A0A075B5L7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103341
AA Change: S81A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100142
Gene: ENSMUSG00000076540
AA Change: S81A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IGv
|
40 |
111 |
1.7e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef18 |
G |
A |
8: 3,438,075 (GRCm39) |
R303H |
probably damaging |
Het |
| Ark2c |
C |
A |
18: 77,554,435 (GRCm39) |
V60L |
probably damaging |
Het |
| Asb15 |
A |
T |
6: 24,570,690 (GRCm39) |
Q556L |
probably benign |
Het |
| Ccr1 |
G |
T |
9: 123,764,413 (GRCm39) |
P39H |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,451,816 (GRCm39) |
L400Q |
probably damaging |
Het |
| Cfap298 |
G |
T |
16: 90,722,953 (GRCm39) |
D260E |
probably benign |
Het |
| Cideb |
T |
C |
14: 55,995,312 (GRCm39) |
E58G |
probably damaging |
Het |
| Drd2 |
A |
G |
9: 49,313,553 (GRCm39) |
K241E |
possibly damaging |
Het |
| Ect2 |
C |
T |
3: 27,201,002 (GRCm39) |
C126Y |
probably damaging |
Het |
| Eef1d |
T |
C |
15: 75,775,030 (GRCm39) |
T210A |
probably benign |
Het |
| Enpp2 |
G |
A |
15: 54,745,552 (GRCm39) |
H315Y |
probably damaging |
Het |
| Ero1b |
A |
T |
13: 12,616,656 (GRCm39) |
M362L |
probably benign |
Het |
| Exosc2 |
A |
G |
2: 31,562,578 (GRCm39) |
K73E |
possibly damaging |
Het |
| Gm9637 |
T |
A |
14: 19,402,143 (GRCm38) |
|
noncoding transcript |
Het |
| Gstm5 |
A |
G |
3: 107,804,811 (GRCm39) |
D101G |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,519,699 (GRCm39) |
D2137G |
probably benign |
Het |
| Mecom |
T |
C |
3: 30,011,675 (GRCm39) |
D619G |
possibly damaging |
Het |
| Met |
A |
G |
6: 17,527,084 (GRCm39) |
I512V |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,937,658 (GRCm39) |
K753R |
probably null |
Het |
| Nfatc4 |
A |
G |
14: 56,070,091 (GRCm39) |
D753G |
probably benign |
Het |
| Or2l5 |
T |
A |
16: 19,333,996 (GRCm39) |
H130L |
possibly damaging |
Het |
| Or4c113 |
T |
A |
2: 88,885,240 (GRCm39) |
T177S |
probably benign |
Het |
| Or4c12 |
T |
A |
2: 89,773,731 (GRCm39) |
T243S |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp9 |
C |
T |
16: 35,763,752 (GRCm39) |
A10V |
probably damaging |
Het |
| Pcdh8 |
C |
A |
14: 80,007,688 (GRCm39) |
E292* |
probably null |
Het |
| Pdpn |
A |
T |
4: 142,995,788 (GRCm39) |
V161D |
probably damaging |
Het |
| Peg3 |
A |
G |
7: 6,711,628 (GRCm39) |
V1198A |
probably benign |
Het |
| Phykpl |
T |
C |
11: 51,476,342 (GRCm39) |
S21P |
probably benign |
Het |
| Plcb1 |
G |
T |
2: 135,189,322 (GRCm39) |
V817F |
possibly damaging |
Het |
| Polk |
T |
C |
13: 96,620,463 (GRCm39) |
Y579C |
probably benign |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,511 (GRCm39) |
N129D |
probably benign |
Het |
| Psg29 |
C |
A |
7: 16,945,561 (GRCm39) |
|
probably null |
Het |
| Rims4 |
C |
T |
2: 163,760,596 (GRCm39) |
R3H |
probably benign |
Het |
| Rps6kl1 |
A |
T |
12: 85,186,155 (GRCm39) |
C292S |
probably benign |
Het |
| Uaca |
G |
T |
9: 60,777,421 (GRCm39) |
G603C |
possibly damaging |
Het |
| Vmn1r60 |
T |
C |
7: 5,547,416 (GRCm39) |
H228R |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,623,658 (GRCm39) |
T221A |
probably benign |
Het |
| Zfp647 |
C |
A |
15: 76,795,593 (GRCm39) |
V356L |
possibly damaging |
Het |
|
| Other mutations in Igkv4-80 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02452:Igkv4-80
|
APN |
6 |
68,993,816 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02630:Igkv4-80
|
APN |
6 |
68,993,680 (GRCm39) |
nonsense |
probably null |
|
|
IGL02711:Igkv4-80
|
APN |
6 |
68,993,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02934:Igkv4-80
|
APN |
6 |
68,993,840 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4584:Igkv4-80
|
UTSW |
6 |
68,993,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4873:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R4875:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R4925:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R4934:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R4991:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R4992:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R5020:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R5061:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R5063:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R5097:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R5164:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R5165:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R5169:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R5170:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R5171:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R5172:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R5203:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R5204:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R5205:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R5257:Igkv4-80
|
UTSW |
6 |
68,993,811 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5258:Igkv4-80
|
UTSW |
6 |
68,993,811 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5380:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R5381:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R5382:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R5383:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R5416:Igkv4-80
|
UTSW |
6 |
68,993,649 (GRCm39) |
missense |
probably benign |
|
|
R6778:Igkv4-80
|
UTSW |
6 |
68,993,545 (GRCm39) |
nonsense |
probably null |
|
|
R7385:Igkv4-80
|
UTSW |
6 |
68,993,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7507:Igkv4-80
|
UTSW |
6 |
68,993,677 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7994:Igkv4-80
|
UTSW |
6 |
68,993,621 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9323:Igkv4-80
|
UTSW |
6 |
68,993,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9439:Igkv4-80
|
UTSW |
6 |
68,993,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9484:Igkv4-80
|
UTSW |
6 |
68,993,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
|
| Posted On |
2016-09-01 |
Incidental Mutation