Incidental Mutation 'R7507:Igkv4-80'
| ID |
581841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igkv4-80
|
| Ensembl Gene |
ENSMUSG00000076540 |
| Gene Name |
immunoglobulin kappa variable 4-80 |
| Synonyms |
Gm16729 |
| MMRRC Submission |
045580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R7507 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
68993542-68994064 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 68993677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 71
(S71R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103341]
|
| AlphaFold |
A0A075B5L7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103341
AA Change: S71R
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000100142
Gene: ENSMUSG00000076540
AA Change: S71R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IGv
|
40 |
111 |
1.7e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,652,177 (GRCm39) |
T1359S |
probably benign |
Het |
| Adam8 |
C |
T |
7: 139,567,091 (GRCm39) |
|
probably null |
Het |
| Adnp2 |
A |
G |
18: 80,174,068 (GRCm39) |
S114P |
probably benign |
Het |
| BC051019 |
T |
A |
7: 109,315,475 (GRCm39) |
D260V |
possibly damaging |
Het |
| Btnl10 |
A |
G |
11: 58,811,384 (GRCm39) |
T236A |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 119,034,200 (GRCm39) |
L109Q |
|
Het |
| Clint1 |
C |
A |
11: 45,799,776 (GRCm39) |
Q512K |
possibly damaging |
Het |
| Dop1a |
A |
G |
9: 86,418,002 (GRCm39) |
N1957S |
probably benign |
Het |
| Gosr1 |
A |
T |
11: 76,645,240 (GRCm39) |
N101K |
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,119,765 (GRCm39) |
T350A |
probably benign |
Het |
| Hs3st5 |
T |
A |
10: 36,709,011 (GRCm39) |
V182D |
probably damaging |
Het |
| Kif2b |
A |
G |
11: 91,468,269 (GRCm39) |
F5L |
probably benign |
Het |
| Med1 |
A |
G |
11: 98,048,852 (GRCm39) |
L648P |
probably damaging |
Het |
| Mgat4a |
G |
A |
1: 37,491,608 (GRCm39) |
L375F |
probably damaging |
Het |
| Mlph |
A |
T |
1: 90,855,429 (GRCm39) |
|
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,274,626 (GRCm39) |
S346P |
probably damaging |
Het |
| Nhlrc2 |
G |
A |
19: 56,585,810 (GRCm39) |
V682I |
not run |
Het |
| Nos3 |
T |
C |
5: 24,577,642 (GRCm39) |
M552T |
probably damaging |
Het |
| Or4e2 |
A |
G |
14: 52,687,930 (GRCm39) |
N20S |
probably benign |
Het |
| Or5w19 |
T |
C |
2: 87,698,713 (GRCm39) |
I126T |
probably damaging |
Het |
| Or6c209 |
T |
A |
10: 129,483,366 (GRCm39) |
I123N |
probably damaging |
Het |
| Pcdha5 |
A |
T |
18: 37,093,909 (GRCm39) |
R139S |
probably benign |
Het |
| Pik3r1 |
G |
A |
13: 101,845,490 (GRCm39) |
S147L |
probably benign |
Het |
| Plppr4 |
T |
A |
3: 117,115,754 (GRCm39) |
H701L |
possibly damaging |
Het |
| Pnpla1 |
T |
C |
17: 29,095,791 (GRCm39) |
Y71H |
probably damaging |
Het |
| Ppp1r12c |
G |
A |
7: 4,486,970 (GRCm39) |
A521V |
probably benign |
Het |
| Rasgrp3 |
C |
A |
17: 75,804,055 (GRCm39) |
D119E |
probably damaging |
Het |
| Rnf216 |
A |
T |
5: 143,075,557 (GRCm39) |
D342E |
probably damaging |
Het |
| Rnpc3 |
A |
T |
3: 113,410,410 (GRCm39) |
S294T |
probably benign |
Het |
| Sepsecs |
A |
G |
5: 52,801,397 (GRCm39) |
F422L |
probably damaging |
Het |
| Sgcz |
T |
A |
8: 38,420,200 (GRCm39) |
E17D |
probably benign |
Het |
| Slc2a5 |
T |
C |
4: 150,210,107 (GRCm39) |
Y31H |
probably damaging |
Het |
| Spag9 |
A |
G |
11: 93,958,906 (GRCm39) |
E310G |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,117,733 (GRCm39) |
Y288C |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,668,671 (GRCm39) |
|
probably null |
Het |
| Trim62 |
A |
G |
4: 128,790,664 (GRCm39) |
T154A |
probably benign |
Het |
| Tubb4a |
T |
C |
17: 57,388,642 (GRCm39) |
D128G |
probably damaging |
Het |
| Ube3d |
G |
A |
9: 86,304,939 (GRCm39) |
A301V |
possibly damaging |
Het |
| Utp6 |
A |
G |
11: 79,833,012 (GRCm39) |
S444P |
possibly damaging |
Het |
| Vasn |
T |
C |
16: 4,467,345 (GRCm39) |
C431R |
probably damaging |
Het |
| Zfp260 |
T |
C |
7: 29,804,291 (GRCm39) |
S64P |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,808,840 (GRCm39) |
M1007K |
probably damaging |
Het |
| Zfp606 |
C |
A |
7: 12,226,868 (GRCm39) |
Q330K |
probably benign |
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 |
|
|
R5415: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 |
|
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 |
PCR Primer
(F):5'- TGGAGGAAGTAGCTAGACCC -3'
(R):5'- GCTTCCTGCTAATCAGTGCC -3'
Sequencing Primer
(F):5'- AGTAGCTAGACCCTAAGGACTTAG -3'
(R):5'- TGCTAATCAGTGCCTCAGGTAACAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation