Incidental Mutation 'R5264:Lrrc8b'
| ID |
401594 |
| 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 |
042832-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R5264 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
105563641-105637940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105628118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 155
(I155F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112707]
|
| AlphaFold |
Q5DU41 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112707
AA Change: I155F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108327
Gene: ENSMUSG00000070639
AA Change: I155F
| 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 |
0.1078 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ckap2l |
A |
T |
2: 129,127,299 (GRCm39) |
M293K |
probably benign |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Dnai7 |
A |
G |
6: 145,127,502 (GRCm39) |
V469A |
probably benign |
Het |
| Efcab7 |
G |
A |
4: 99,735,372 (GRCm39) |
R132H |
probably benign |
Het |
| Elovl4 |
T |
C |
9: 83,662,817 (GRCm39) |
T239A |
probably benign |
Het |
| Fank1 |
A |
G |
7: 133,481,621 (GRCm39) |
D240G |
probably damaging |
Het |
| Fbln5 |
T |
A |
12: 101,723,703 (GRCm39) |
M346L |
possibly damaging |
Het |
| Fbxl21 |
T |
C |
13: 56,680,136 (GRCm39) |
F174L |
probably benign |
Het |
| Gns |
A |
G |
10: 121,216,090 (GRCm39) |
D279G |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,555,265 (GRCm39) |
V2502A |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Large2 |
A |
G |
2: 92,205,088 (GRCm39) |
|
probably benign |
Het |
| Morc2b |
T |
C |
17: 33,357,353 (GRCm39) |
I140V |
probably benign |
Het |
| Mrgprb5 |
G |
A |
7: 47,817,796 (GRCm39) |
S313L |
probably benign |
Het |
| Nectin4 |
A |
T |
1: 171,211,273 (GRCm39) |
T266S |
probably benign |
Het |
| Nsd1 |
C |
T |
13: 55,395,159 (GRCm39) |
A1023V |
possibly damaging |
Het |
| Or51a39 |
T |
C |
7: 102,363,558 (GRCm39) |
T21A |
probably benign |
Het |
| Paqr8 |
A |
G |
1: 21,005,332 (GRCm39) |
H162R |
possibly damaging |
Het |
| Pclo |
G |
A |
5: 14,726,937 (GRCm39) |
|
probably benign |
Het |
| Phactr4 |
T |
C |
4: 132,098,293 (GRCm39) |
D325G |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,361,532 (GRCm39) |
E1255V |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Polr3b |
A |
T |
10: 84,503,280 (GRCm39) |
Q399L |
probably benign |
Het |
| Ppp1r35 |
G |
A |
5: 137,778,286 (GRCm39) |
|
probably benign |
Het |
| Psd3 |
A |
T |
8: 68,166,377 (GRCm39) |
D919E |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 149,978,481 (GRCm39) |
T198A |
possibly damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,564,997 (GRCm39) |
|
probably null |
Het |
| Ptprk |
A |
G |
10: 28,461,582 (GRCm39) |
Y39C |
probably damaging |
Het |
| R3hdm4 |
A |
G |
10: 79,749,175 (GRCm39) |
Y75H |
probably benign |
Het |
| Rsph4a |
A |
G |
10: 33,785,379 (GRCm39) |
Y430C |
probably damaging |
Het |
| Samd12 |
C |
T |
15: 53,723,669 (GRCm39) |
C8Y |
probably damaging |
Het |
| Sema3e |
A |
C |
5: 14,276,662 (GRCm39) |
L314F |
probably damaging |
Het |
| Sis |
A |
G |
3: 72,857,089 (GRCm39) |
F401L |
probably damaging |
Het |
| Smoc1 |
T |
A |
12: 81,151,474 (GRCm39) |
S64T |
probably damaging |
Het |
| Socs5 |
T |
A |
17: 87,441,769 (GRCm39) |
H236Q |
probably damaging |
Het |
| Spaca1 |
C |
A |
4: 34,049,863 (GRCm39) |
R45L |
possibly damaging |
Het |
| Spag6 |
A |
G |
2: 18,750,324 (GRCm39) |
K457E |
probably benign |
Het |
| Stat2 |
T |
A |
10: 128,116,934 (GRCm39) |
|
probably null |
Het |
| Tcp11l2 |
A |
G |
10: 84,449,524 (GRCm39) |
I496M |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,725,535 (GRCm39) |
I648V |
possibly damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,801,453 (GRCm39) |
Y161C |
probably damaging |
Het |
| Wnt5b |
A |
T |
6: 119,410,813 (GRCm39) |
V171E |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,648,219 (GRCm39) |
K933E |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,676,198 (GRCm39) |
E373G |
probably damaging |
Het |
| Zfp617 |
A |
G |
8: 72,686,885 (GRCm39) |
Y405C |
probably damaging |
Het |
| Zranb1 |
CTGATGATGATG |
CTGATGATGATGATG |
7: 132,584,556 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGCAGTACTCCTACATC -3'
(R):5'- CAAAGATGGCCTTGGCTTG -3'
Sequencing Primer
(F):5'- TCGATGCTGTCTGCTACGAGAAAC -3'
(R):5'- CTTCTTGTCCAGGACGCTAGAAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation