Incidental Mutation 'R6637:Lrrc8b'
| ID |
525520 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc8b
|
| Ensembl Gene |
ENSMUSG00000070639 |
| Gene Name |
leucine rich repeat containing 8 family, member B |
| Synonyms |
R75581, 2210408K08Rik |
| MMRRC Submission |
044758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R6637 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
105563641-105637940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 105628137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 161
(D161A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112707]
|
| AlphaFold |
Q5DU41 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112707
AA Change: D161A
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108327
Gene: ENSMUSG00000070639
AA Change: D161A
| 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 |
|
| Meta Mutation Damage Score |
0.0848 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.1%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
G |
A |
3: 151,223,410 (GRCm39) |
W621* |
probably null |
Het |
| Adh1 |
T |
A |
3: 137,988,231 (GRCm39) |
C98* |
probably null |
Het |
| Alms1 |
A |
G |
6: 85,596,716 (GRCm39) |
H514R |
possibly damaging |
Het |
| Ap4m1 |
A |
G |
5: 138,170,437 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b2 |
T |
C |
8: 69,554,026 (GRCm39) |
Y68H |
probably damaging |
Het |
| Cdh3 |
G |
C |
8: 107,237,973 (GRCm39) |
V56L |
probably benign |
Het |
| Col3a1 |
C |
T |
1: 45,386,890 (GRCm39) |
T234I |
probably damaging |
Het |
| Cxadr |
C |
T |
16: 78,130,391 (GRCm39) |
T186M |
possibly damaging |
Het |
| Dmgdh |
A |
T |
13: 93,845,706 (GRCm39) |
E453D |
probably benign |
Het |
| Fbxo16 |
A |
G |
14: 65,533,210 (GRCm39) |
|
probably null |
Het |
| Fign |
A |
G |
2: 63,858,252 (GRCm39) |
|
probably benign |
Het |
| Hfe |
C |
G |
13: 23,890,778 (GRCm39) |
E120D |
possibly damaging |
Het |
| Hfe |
T |
C |
13: 23,890,779 (GRCm39) |
E120G |
possibly damaging |
Het |
| Invs |
G |
A |
4: 48,416,203 (GRCm39) |
|
probably null |
Het |
| Kcnb1 |
T |
C |
2: 166,947,774 (GRCm39) |
D358G |
probably damaging |
Het |
| Kcnk5 |
A |
C |
14: 20,194,789 (GRCm39) |
M183R |
probably null |
Het |
| Lamp3 |
A |
G |
16: 19,519,983 (GRCm39) |
F67L |
probably benign |
Het |
| Lrriq1 |
A |
T |
10: 103,057,293 (GRCm39) |
F169Y |
probably benign |
Het |
| Lsamp |
T |
A |
16: 41,353,743 (GRCm39) |
V2D |
possibly damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,922,612 (GRCm39) |
I132V |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,575,255 (GRCm39) |
P1280L |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,372,342 (GRCm39) |
Y2659H |
possibly damaging |
Het |
| Or2g7 |
G |
A |
17: 38,378,115 (GRCm39) |
D18N |
probably damaging |
Het |
| Or4a27 |
T |
C |
2: 88,559,185 (GRCm39) |
I253V |
probably benign |
Het |
| Or5b113 |
T |
C |
19: 13,342,589 (GRCm39) |
V199A |
probably benign |
Het |
| Or5t15 |
T |
G |
2: 86,681,784 (GRCm39) |
K86T |
probably benign |
Het |
| Spa17 |
A |
T |
9: 37,523,270 (GRCm39) |
S6T |
probably benign |
Het |
| Ston2 |
G |
C |
12: 91,680,886 (GRCm39) |
T126S |
probably damaging |
Het |
| Tal1 |
A |
G |
4: 114,925,789 (GRCm39) |
N286S |
probably damaging |
Het |
| Tbr1 |
A |
G |
2: 61,641,974 (GRCm39) |
D150G |
probably benign |
Het |
| Tgm7 |
T |
A |
2: 120,931,571 (GRCm39) |
R197S |
probably damaging |
Het |
| Topaz1 |
A |
T |
9: 122,578,851 (GRCm39) |
Q587L |
probably benign |
Het |
| Ubxn4 |
C |
A |
1: 128,204,824 (GRCm39) |
Q505K |
probably damaging |
Het |
| Vcl |
A |
G |
14: 21,053,200 (GRCm39) |
E405G |
probably damaging |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,650 (GRCm39) |
I742F |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGATGCTGTCTGCTACGAG -3'
(R):5'- AAGATGGCCTTGGCTTGTTC -3'
Sequencing Primer
(F):5'- GAAACAGCTCCATTGGTTCG -3'
(R):5'- CTTCTTGTCCAGGACGCTAGAAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation