Incidental Mutation 'IGL01799:Lrrc8b'
ID |
155444 |
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: 0.200)
|
Stock # |
IGL01799
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
105563641-105637940 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 105633757 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 743
(L743Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108327
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112707]
|
AlphaFold |
Q5DU41 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000112707
AA Change: L743Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108327 Gene: ENSMUSG00000070639 AA Change: L743Q
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c20 |
T |
A |
13: 4,564,257 (GRCm39) |
|
probably null |
Het |
Anp32a |
A |
G |
9: 62,279,092 (GRCm39) |
T35A |
probably benign |
Het |
Dennd1a |
A |
G |
2: 37,938,754 (GRCm39) |
Y119H |
probably damaging |
Het |
Evc |
T |
C |
5: 37,482,258 (GRCm39) |
I32V |
possibly damaging |
Het |
Fbll1 |
A |
C |
11: 35,688,936 (GRCm39) |
V109G |
possibly damaging |
Het |
Gli3 |
T |
C |
13: 15,900,746 (GRCm39) |
S1378P |
probably benign |
Het |
Hcfc2 |
G |
A |
10: 82,536,825 (GRCm39) |
C79Y |
probably damaging |
Het |
Hdac5 |
A |
T |
11: 102,090,911 (GRCm39) |
I741N |
possibly damaging |
Het |
Heatr5a |
T |
C |
12: 51,944,618 (GRCm39) |
D1289G |
probably benign |
Het |
Hyal5 |
T |
A |
6: 24,891,336 (GRCm39) |
N383K |
probably benign |
Het |
Itsn1 |
T |
C |
16: 91,645,770 (GRCm39) |
L59P |
probably damaging |
Het |
Micos10 |
G |
T |
4: 138,831,308 (GRCm39) |
|
probably benign |
Het |
Mks1 |
A |
T |
11: 87,747,689 (GRCm39) |
I191F |
probably benign |
Het |
Mrc1 |
T |
A |
2: 14,243,187 (GRCm39) |
N104K |
probably damaging |
Het |
Ms4a6d |
A |
T |
19: 11,567,499 (GRCm39) |
I26N |
probably damaging |
Het |
Mup17 |
T |
C |
4: 61,511,948 (GRCm39) |
T109A |
probably benign |
Het |
Mylk4 |
T |
G |
13: 32,965,674 (GRCm39) |
E9A |
probably benign |
Het |
Myo7b |
C |
T |
18: 32,095,823 (GRCm39) |
V1812M |
probably damaging |
Het |
Nbas |
T |
C |
12: 13,374,401 (GRCm39) |
|
probably benign |
Het |
Ncoa2 |
T |
C |
1: 13,222,599 (GRCm39) |
|
probably benign |
Het |
Nlrp4f |
T |
C |
13: 65,335,276 (GRCm39) |
H771R |
probably benign |
Het |
Opa1 |
T |
C |
16: 29,435,476 (GRCm39) |
V642A |
possibly damaging |
Het |
Or9g3 |
T |
A |
2: 85,589,986 (GRCm39) |
I245F |
probably benign |
Het |
Pate12 |
T |
C |
9: 36,344,179 (GRCm39) |
L54P |
possibly damaging |
Het |
Pi4ka |
C |
A |
16: 17,207,235 (GRCm39) |
L23F |
probably damaging |
Het |
Rerg |
T |
A |
6: 137,033,376 (GRCm39) |
K100* |
probably null |
Het |
Sema6c |
T |
C |
3: 95,078,142 (GRCm39) |
V506A |
probably damaging |
Het |
Slc15a1 |
T |
G |
14: 121,718,141 (GRCm39) |
N246T |
possibly damaging |
Het |
Sorcs1 |
A |
G |
19: 50,218,647 (GRCm39) |
|
probably null |
Het |
Vmn2r118 |
A |
G |
17: 55,899,990 (GRCm39) |
L638P |
probably damaging |
Het |
Vmn2r80 |
G |
A |
10: 79,007,385 (GRCm39) |
G454S |
possibly 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 |
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 |
IGL03076:Lrrc8b
|
APN |
5 |
105,629,415 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2014-02-04 |