Incidental Mutation 'IGL00519:Lrrc8b'
| ID |
5568 |
| 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 # |
IGL00519
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
105563641-105637940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 105629591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 646
(A646T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112707]
|
| AlphaFold |
Q5DU41 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112707
AA Change: A646T
PolyPhen 2
Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108327
Gene: ENSMUSG00000070639
AA Change: A646T
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
T |
8: 44,022,562 (GRCm39) |
N309K |
probably damaging |
Het |
| Asap1 |
G |
A |
15: 63,982,791 (GRCm39) |
P846S |
probably damaging |
Het |
| Atg10 |
A |
G |
13: 91,302,330 (GRCm39) |
|
probably benign |
Het |
| Cdk18 |
C |
A |
1: 132,043,226 (GRCm39) |
R433L |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,915,037 (GRCm39) |
Y979H |
probably damaging |
Het |
| Cracr2b |
T |
C |
7: 141,045,670 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,377,266 (GRCm39) |
F2049L |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,287,730 (GRCm39) |
N3450D |
probably benign |
Het |
| Dmrt1 |
T |
C |
19: 25,580,638 (GRCm39) |
L350P |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,444,364 (GRCm39) |
D4054V |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,985,290 (GRCm39) |
T783S |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,663,670 (GRCm39) |
T564A |
probably benign |
Het |
| Exoc6b |
T |
C |
6: 84,966,435 (GRCm39) |
K180E |
probably benign |
Het |
| Faf1 |
T |
A |
4: 109,697,578 (GRCm39) |
F301L |
probably benign |
Het |
| Fbxo7 |
A |
T |
10: 85,864,928 (GRCm39) |
E77V |
probably damaging |
Het |
| Gabpa |
T |
G |
16: 84,657,489 (GRCm39) |
*455G |
probably null |
Het |
| Hexim2 |
A |
T |
11: 103,024,905 (GRCm39) |
M1L |
probably benign |
Het |
| Lrrc24 |
T |
A |
15: 76,602,263 (GRCm39) |
N164I |
probably damaging |
Het |
| Mansc1 |
T |
A |
6: 134,587,769 (GRCm39) |
Q136L |
possibly damaging |
Het |
| Mlxip |
T |
A |
5: 123,585,268 (GRCm39) |
V592E |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,161,988 (GRCm39) |
T429A |
unknown |
Het |
| Tbcd |
A |
G |
11: 121,466,147 (GRCm39) |
N591S |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,454,345 (GRCm39) |
|
probably benign |
Het |
| Uri1 |
A |
G |
7: 37,660,978 (GRCm39) |
S522P |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,176,865 (GRCm39) |
S1343L |
probably benign |
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 |
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation