Incidental Mutation 'IGL03076:Lrrc8b'
| ID |
417696 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc8b
|
| Ensembl Gene |
ENSMUSG00000070639 |
| Gene Name |
leucine rich repeat containing 8 family, member B |
| Synonyms |
R75581, 2210408K08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
IGL03076
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
105563641-105637940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105629415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 587
(L587Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112707]
|
| AlphaFold |
Q5DU41 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112707
AA Change: L587Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108327
Gene: ENSMUSG00000070639
AA Change: L587Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pannexin_like
|
1 |
334 |
2.9e-133 |
PFAM |
|
LRR
|
509 |
536 |
5.27e1 |
SMART |
|
LRR
|
584 |
607 |
2.03e1 |
SMART |
|
LRR
|
632 |
654 |
1.97e1 |
SMART |
|
LRR_TYP
|
655 |
678 |
4.79e-3 |
SMART |
|
LRR
|
679 |
700 |
3.09e1 |
SMART |
|
LRR_TYP
|
701 |
724 |
4.17e-3 |
SMART |
|
LRR
|
747 |
770 |
2.17e-1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy2 |
T |
C |
12: 36,215,917 (GRCm39) |
V39A |
probably damaging |
Het |
| Bcl2 |
A |
G |
1: 106,471,037 (GRCm39) |
V223A |
probably benign |
Het |
| Bsn |
T |
A |
9: 107,982,581 (GRCm39) |
Y3724F |
unknown |
Het |
| Chd8 |
T |
C |
14: 52,463,619 (GRCm39) |
|
probably benign |
Het |
| Cyp2a5 |
T |
C |
7: 26,535,299 (GRCm39) |
V87A |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,807,226 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
C |
T |
12: 110,624,327 (GRCm39) |
R3652W |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,479,549 (GRCm39) |
T152S |
probably damaging |
Het |
| Flnb |
T |
G |
14: 7,901,988 (GRCm38) |
N950K |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,414,437 (GRCm39) |
D1128G |
probably damaging |
Het |
| Fndc3a |
T |
A |
14: 72,793,908 (GRCm39) |
T922S |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,812,482 (GRCm39) |
N2934Y |
possibly damaging |
Het |
| Gnptab |
T |
C |
10: 88,276,151 (GRCm39) |
V1146A |
possibly damaging |
Het |
| Gsg1l |
A |
G |
7: 125,522,665 (GRCm39) |
F188L |
probably benign |
Het |
| Kmt2c |
C |
A |
5: 25,504,149 (GRCm39) |
E309* |
probably null |
Het |
| Krt71 |
C |
T |
15: 101,643,032 (GRCm39) |
R492H |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,023,794 (GRCm39) |
V63E |
possibly damaging |
Het |
| Lrch3 |
T |
C |
16: 32,802,223 (GRCm39) |
V58A |
possibly damaging |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,568 (GRCm39) |
C342R |
probably damaging |
Het |
| Mdm1 |
T |
C |
10: 117,995,588 (GRCm39) |
S541P |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,735,564 (GRCm39) |
V3410D |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,059,100 (GRCm39) |
H213Y |
probably damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,679 (GRCm39) |
N90K |
probably benign |
Het |
| Or7e175 |
T |
C |
9: 20,049,023 (GRCm39) |
S204P |
probably benign |
Het |
| Pigt |
A |
G |
2: 164,339,585 (GRCm39) |
E36G |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,935,970 (GRCm39) |
V1120D |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,516,793 (GRCm39) |
L350P |
probably damaging |
Het |
| Rasgef1c |
C |
A |
11: 49,861,073 (GRCm39) |
T302K |
probably damaging |
Het |
| Riox2 |
C |
A |
16: 59,311,575 (GRCm39) |
A386D |
possibly damaging |
Het |
| Semp2l1 |
A |
G |
1: 32,584,626 (GRCm39) |
I428T |
probably damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,059,469 (GRCm39) |
|
probably benign |
Het |
| Trim24 |
T |
A |
6: 37,942,567 (GRCm39) |
S992R |
probably damaging |
Het |
| Trpc3 |
T |
C |
3: 36,694,804 (GRCm39) |
N717D |
probably damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,327,499 (GRCm39) |
D359G |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,046 (GRCm39) |
T303A |
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,618,636 (GRCm39) |
T45A |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,219,944 (GRCm39) |
S240P |
probably damaging |
Het |
|
| Other mutations in Lrrc8b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:Lrrc8b
|
APN |
5 |
105,628,365 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00519:Lrrc8b
|
APN |
5 |
105,629,591 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01732:Lrrc8b
|
APN |
5 |
105,633,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01799:Lrrc8b
|
APN |
5 |
105,633,757 (GRCm39) |
missense |
probably benign |
|
|
IGL02005:Lrrc8b
|
APN |
5 |
105,628,920 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02205:Lrrc8b
|
APN |
5 |
105,629,703 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03038:Lrrc8b
|
APN |
5 |
105,629,358 (GRCm39) |
missense |
probably damaging |
0.98 |
|
sospecho
|
UTSW |
5 |
105,628,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Whiff
|
UTSW |
5 |
105,628,137 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02796:Lrrc8b
|
UTSW |
5 |
105,629,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0647:Lrrc8b
|
UTSW |
5 |
105,628,473 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0722:Lrrc8b
|
UTSW |
5 |
105,627,978 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1382:Lrrc8b
|
UTSW |
5 |
105,628,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Lrrc8b
|
UTSW |
5 |
105,629,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1801:Lrrc8b
|
UTSW |
5 |
105,628,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Lrrc8b
|
UTSW |
5 |
105,629,217 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1888:Lrrc8b
|
UTSW |
5 |
105,629,217 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2169:Lrrc8b
|
UTSW |
5 |
105,629,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4514:Lrrc8b
|
UTSW |
5 |
105,627,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4898:Lrrc8b
|
UTSW |
5 |
105,628,080 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5243:Lrrc8b
|
UTSW |
5 |
105,628,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5264:Lrrc8b
|
UTSW |
5 |
105,628,118 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5424:Lrrc8b
|
UTSW |
5 |
105,628,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5513:Lrrc8b
|
UTSW |
5 |
105,633,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5632:Lrrc8b
|
UTSW |
5 |
105,628,163 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5799:Lrrc8b
|
UTSW |
5 |
105,629,208 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5800:Lrrc8b
|
UTSW |
5 |
105,629,208 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6637:Lrrc8b
|
UTSW |
5 |
105,628,137 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7249:Lrrc8b
|
UTSW |
5 |
105,629,133 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7253:Lrrc8b
|
UTSW |
5 |
105,629,522 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7558:Lrrc8b
|
UTSW |
5 |
105,629,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8077:Lrrc8b
|
UTSW |
5 |
105,627,883 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8423:Lrrc8b
|
UTSW |
5 |
105,628,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8480:Lrrc8b
|
UTSW |
5 |
105,633,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8765:Lrrc8b
|
UTSW |
5 |
105,629,133 (GRCm39) |
missense |
probably benign |
|
|
R8841:Lrrc8b
|
UTSW |
5 |
105,628,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8912:Lrrc8b
|
UTSW |
5 |
105,629,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9040:Lrrc8b
|
UTSW |
5 |
105,628,161 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9432:Lrrc8b
|
UTSW |
5 |
105,633,888 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Posted On |
2016-08-02 |
Incidental Mutation