Incidental Mutation 'R5800:Lrrc8b'
| ID |
447344 |
| 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 |
043389-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R5800 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
105563641-105637940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 105629208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 518
(S518L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112707]
|
| AlphaFold |
Q5DU41 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112707
AA Change: S518L
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000108327
Gene: ENSMUSG00000070639
AA Change: S518L
| 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 |
0.0912 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,360,591 (GRCm39) |
V540D |
possibly damaging |
Het |
| Adamts8 |
A |
T |
9: 30,865,778 (GRCm39) |
D442V |
probably damaging |
Het |
| B3galt9 |
T |
C |
2: 34,728,654 (GRCm39) |
F151S |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,106,592 (GRCm39) |
D4974G |
probably damaging |
Het |
| Casp4 |
G |
A |
9: 5,308,915 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
T |
A |
1: 172,366,167 (GRCm39) |
V30E |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,957,474 (GRCm39) |
F117L |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,686,175 (GRCm39) |
T1810S |
probably benign |
Het |
| Drosha |
C |
T |
15: 12,865,153 (GRCm39) |
T627M |
probably damaging |
Het |
| Drosha |
C |
A |
15: 12,902,733 (GRCm39) |
A1001D |
probably damaging |
Het |
| Efhc1 |
G |
A |
1: 21,049,005 (GRCm39) |
V473I |
probably benign |
Het |
| Ephx2 |
T |
C |
14: 66,344,751 (GRCm39) |
K191R |
probably benign |
Het |
| Ero1b |
T |
A |
13: 12,617,190 (GRCm39) |
|
probably null |
Het |
| Esyt2 |
A |
T |
12: 116,333,808 (GRCm39) |
D837V |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,706,742 (GRCm39) |
D126E |
possibly damaging |
Het |
| Fyttd1 |
C |
T |
16: 32,711,658 (GRCm39) |
R86C |
probably damaging |
Het |
| Gm12888 |
T |
A |
4: 121,176,625 (GRCm39) |
T59S |
probably damaging |
Het |
| Gm7353 |
A |
T |
7: 3,160,168 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr153 |
C |
T |
4: 152,364,534 (GRCm39) |
Q197* |
probably null |
Het |
| Grep1 |
G |
A |
17: 23,936,966 (GRCm39) |
P72S |
probably damaging |
Het |
| H2-T23 |
G |
T |
17: 36,342,496 (GRCm39) |
|
probably benign |
Het |
| Ighv1-16 |
T |
A |
12: 114,629,531 (GRCm39) |
R85S |
probably benign |
Het |
| Ipcef1 |
T |
A |
10: 6,840,569 (GRCm39) |
D376V |
probably damaging |
Het |
| Kdm1a |
T |
A |
4: 136,300,381 (GRCm39) |
|
probably null |
Het |
| Klk1b27 |
A |
T |
7: 43,705,088 (GRCm39) |
Q85L |
probably benign |
Het |
| Krt39 |
A |
T |
11: 99,411,971 (GRCm39) |
D38E |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,621,999 (GRCm39) |
L187P |
possibly damaging |
Het |
| Lyg1 |
C |
T |
1: 37,986,034 (GRCm39) |
D176N |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,836,678 (GRCm39) |
N82D |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,226,690 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
T |
C |
14: 56,108,088 (GRCm39) |
L1065P |
probably damaging |
Het |
| Or5b118 |
T |
C |
19: 13,449,260 (GRCm39) |
S309P |
probably benign |
Het |
| Pcdh7 |
T |
A |
5: 57,879,567 (GRCm39) |
S1041T |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,811,302 (GRCm39) |
M1518L |
probably benign |
Het |
| Prl8a6 |
G |
T |
13: 27,619,453 (GRCm39) |
Q90K |
probably benign |
Het |
| Ptcd1 |
T |
A |
5: 145,096,475 (GRCm39) |
D206V |
probably damaging |
Het |
| Rap1gap |
C |
A |
4: 137,447,688 (GRCm39) |
D478E |
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,330,732 (GRCm39) |
Y1269H |
probably damaging |
Het |
| Sdc2 |
A |
T |
15: 33,028,290 (GRCm39) |
H136L |
probably benign |
Het |
| Senp6 |
A |
T |
9: 80,033,715 (GRCm39) |
I120F |
probably damaging |
Het |
| Shisa5 |
G |
A |
9: 108,885,162 (GRCm39) |
|
probably null |
Het |
| Slc19a1 |
A |
G |
10: 76,878,103 (GRCm39) |
S213G |
probably null |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Tbc1d20 |
T |
A |
2: 152,150,245 (GRCm39) |
|
probably null |
Het |
| Tll2 |
T |
C |
19: 41,093,373 (GRCm39) |
H481R |
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,138,663 (GRCm39) |
V692A |
probably benign |
Het |
| Tmem234 |
T |
C |
4: 129,500,924 (GRCm39) |
|
probably null |
Het |
| Vmn1r237 |
C |
G |
17: 21,535,069 (GRCm39) |
T264S |
probably benign |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,260 (GRCm39) |
T253S |
probably benign |
Het |
| Zfyve27 |
T |
C |
19: 42,171,102 (GRCm39) |
Y191H |
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 |
|
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'- AGATGGAAGTGCTGAGCCTG -3'
(R):5'- AGTTTGCTTCCCTCATTATCAAGG -3'
Sequencing Primer
(F):5'- TGATCCCGGAAGTCAAGCTG -3'
(R):5'- TATCAAGGGACAGCTTCTGC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation