Incidental Mutation 'R5531:Lrrc8d'
ID |
433691 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc8d
|
Ensembl Gene |
ENSMUSG00000046079 |
Gene Name |
leucine rich repeat containing 8D |
Synonyms |
2810473G09Rik, 4930525N13Rik, Lrrc5 |
MMRRC Submission |
043089-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5531 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
105847829-105963081 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 105945536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116346
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060531]
[ENSMUST00000120847]
[ENSMUST00000127686]
[ENSMUST00000156630]
[ENSMUST00000154807]
|
AlphaFold |
Q8BGR2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060531
|
SMART Domains |
Protein: ENSMUSP00000057293 Gene: ENSMUSG00000046079
Domain | Start | End | E-Value | Type |
Pfam:DUF3733
|
1 |
65 |
5.6e-31 |
PFAM |
Pfam:DUF3733
|
138 |
197 |
2e-24 |
PFAM |
transmembrane domain
|
366 |
388 |
N/A |
INTRINSIC |
internal_repeat_1
|
490 |
607 |
1.13e-8 |
PROSPERO |
LRR
|
658 |
681 |
1.23e0 |
SMART |
LRR
|
683 |
705 |
2.03e1 |
SMART |
LRR_TYP
|
706 |
729 |
9.58e-3 |
SMART |
LRR
|
730 |
751 |
2.47e2 |
SMART |
LRR
|
752 |
775 |
1.76e-1 |
SMART |
LRR
|
776 |
797 |
1.01e2 |
SMART |
LRR
|
798 |
821 |
3.29e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120847
|
SMART Domains |
Protein: ENSMUSP00000113603 Gene: ENSMUSG00000046079
Domain | Start | End | E-Value | Type |
Pfam:Pannexin_like
|
1 |
385 |
2.2e-160 |
PFAM |
internal_repeat_1
|
490 |
607 |
1.13e-8 |
PROSPERO |
LRR
|
658 |
681 |
1.23e0 |
SMART |
LRR
|
683 |
705 |
2.03e1 |
SMART |
LRR_TYP
|
706 |
729 |
9.58e-3 |
SMART |
LRR
|
730 |
751 |
2.47e2 |
SMART |
LRR
|
752 |
775 |
1.76e-1 |
SMART |
LRR
|
776 |
797 |
1.01e2 |
SMART |
LRR
|
798 |
821 |
3.29e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127686
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132586
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140081
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149831
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156630
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154807
|
SMART Domains |
Protein: ENSMUSP00000114662 Gene: ENSMUSG00000046079
Domain | Start | End | E-Value | Type |
Pfam:DUF3733
|
1 |
65 |
1.8e-32 |
PFAM |
|
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.5%
- 10x: 95.6%
- 20x: 92.2%
|
Validation Efficiency |
97% (64/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
T |
C |
5: 114,342,767 (GRCm39) |
F878L |
possibly damaging |
Het |
Acr |
T |
A |
15: 89,458,146 (GRCm39) |
Y276N |
probably damaging |
Het |
AI987944 |
A |
T |
7: 41,023,814 (GRCm39) |
Y388* |
probably null |
Het |
Ankrd29 |
G |
A |
18: 12,412,835 (GRCm39) |
T114I |
probably damaging |
Het |
Ap5z1 |
T |
C |
5: 142,453,536 (GRCm39) |
M168T |
probably benign |
Het |
Bard1 |
A |
C |
1: 71,085,880 (GRCm39) |
C608W |
probably damaging |
Het |
Brd10 |
A |
G |
19: 29,731,072 (GRCm39) |
S647P |
possibly damaging |
Het |
Clspn |
A |
G |
4: 126,471,566 (GRCm39) |
R907G |
probably benign |
Het |
Cubn |
C |
T |
2: 13,355,743 (GRCm39) |
V1830I |
probably benign |
Het |
Cwc22 |
T |
C |
2: 77,754,913 (GRCm39) |
N221S |
probably damaging |
Het |
Dact3 |
A |
G |
7: 16,609,540 (GRCm39) |
E64G |
possibly damaging |
Het |
Dhx40 |
T |
C |
11: 86,680,330 (GRCm39) |
E381G |
possibly damaging |
Het |
Dnah7a |
A |
G |
1: 53,458,907 (GRCm39) |
S3744P |
possibly damaging |
Het |
Epha4 |
A |
G |
1: 77,351,513 (GRCm39) |
V914A |
probably benign |
Het |
Fbxw10 |
G |
A |
11: 62,753,482 (GRCm39) |
C492Y |
probably damaging |
Het |
G930045G22Rik |
C |
A |
6: 50,824,756 (GRCm39) |
|
noncoding transcript |
Het |
Gm21103 |
A |
T |
14: 17,484,855 (GRCm39) |
I63K |
probably damaging |
Het |
Gpr156 |
T |
C |
16: 37,825,619 (GRCm39) |
V612A |
probably benign |
Het |
Gucy2g |
A |
G |
19: 55,229,572 (GRCm39) |
S33P |
probably benign |
Het |
Hibch |
A |
G |
1: 52,884,228 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,619,539 (GRCm39) |
C1192S |
probably damaging |
Het |
Hsd11b1 |
CGG |
CG |
1: 192,922,557 (GRCm39) |
|
probably null |
Het |
Ifi214 |
A |
G |
1: 173,352,686 (GRCm39) |
Y248H |
probably damaging |
Het |
Igf2bp2 |
T |
G |
16: 21,907,835 (GRCm39) |
I89L |
probably damaging |
Het |
Il2ra |
A |
T |
2: 11,681,703 (GRCm39) |
T103S |
possibly damaging |
Het |
Ino80 |
T |
A |
2: 119,276,056 (GRCm39) |
M407L |
probably benign |
Het |
Jade1 |
A |
C |
3: 41,567,946 (GRCm39) |
K671N |
probably benign |
Het |
Lca5 |
C |
T |
9: 83,280,648 (GRCm39) |
S384N |
probably benign |
Het |
Lce1l |
G |
T |
3: 92,757,804 (GRCm39) |
P18H |
unknown |
Het |
Ly75 |
T |
C |
2: 60,195,489 (GRCm39) |
N223S |
probably damaging |
Het |
Mcm3 |
A |
T |
1: 20,873,768 (GRCm39) |
F784Y |
possibly damaging |
Het |
Ncf4 |
T |
G |
15: 78,144,988 (GRCm39) |
|
probably benign |
Het |
Ncoa1 |
T |
A |
12: 4,303,746 (GRCm39) |
M1362L |
probably benign |
Het |
Or1e16 |
T |
C |
11: 73,286,003 (GRCm39) |
T282A |
probably benign |
Het |
Or5p5 |
A |
G |
7: 107,414,451 (GRCm39) |
Y220C |
probably benign |
Het |
Or6c8b |
G |
C |
10: 128,882,433 (GRCm39) |
F166L |
probably damaging |
Het |
Prkg2 |
T |
C |
5: 99,115,593 (GRCm39) |
R543G |
probably damaging |
Het |
Ptprd |
A |
C |
4: 75,977,904 (GRCm39) |
|
probably null |
Het |
Scap |
A |
G |
9: 110,210,497 (GRCm39) |
S969G |
possibly damaging |
Het |
Sgk2 |
T |
C |
2: 162,836,624 (GRCm39) |
F60S |
probably benign |
Het |
Sgpp1 |
G |
T |
12: 75,781,981 (GRCm39) |
Y119* |
probably null |
Het |
Siglech |
A |
T |
7: 55,418,413 (GRCm39) |
K31* |
probably null |
Het |
Slc40a1 |
A |
G |
1: 45,951,498 (GRCm39) |
Y220H |
probably damaging |
Het |
Smurf2 |
G |
A |
11: 106,743,389 (GRCm39) |
T219M |
possibly damaging |
Het |
Speer4f2 |
A |
G |
5: 17,581,526 (GRCm39) |
K156R |
possibly damaging |
Het |
Spp1 |
T |
G |
5: 104,588,424 (GRCm39) |
D276E |
probably benign |
Het |
Stk32b |
T |
C |
5: 37,617,078 (GRCm39) |
|
probably null |
Het |
Stxbp5 |
G |
A |
10: 9,638,668 (GRCm39) |
Q1044* |
probably null |
Het |
Sv2c |
T |
A |
13: 96,097,886 (GRCm39) |
T696S |
probably damaging |
Het |
Tubgcp2 |
A |
C |
7: 139,584,937 (GRCm39) |
|
probably null |
Het |
Ubap1l |
C |
T |
9: 65,278,973 (GRCm39) |
P91S |
probably damaging |
Het |
Vmn2r76 |
A |
T |
7: 85,874,657 (GRCm39) |
D773E |
probably damaging |
Het |
Xirp2 |
C |
G |
2: 67,345,646 (GRCm39) |
S2629C |
probably benign |
Het |
Zbtb20 |
C |
A |
16: 43,431,230 (GRCm39) |
C580* |
probably null |
Het |
Zfp957 |
T |
A |
14: 79,450,622 (GRCm39) |
Q392H |
unknown |
Het |
Zfyve19 |
C |
T |
2: 119,042,427 (GRCm39) |
T178M |
probably damaging |
Het |
Zswim6 |
T |
C |
13: 107,906,128 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Lrrc8d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00765:Lrrc8d
|
APN |
5 |
105,959,818 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL01327:Lrrc8d
|
APN |
5 |
105,960,131 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02148:Lrrc8d
|
APN |
5 |
105,960,253 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02228:Lrrc8d
|
APN |
5 |
105,959,730 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02551:Lrrc8d
|
APN |
5 |
105,961,414 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL02605:Lrrc8d
|
APN |
5 |
105,974,683 (GRCm39) |
intron |
noncoding transcript |
|
heehaw
|
UTSW |
5 |
105,960,957 (GRCm39) |
missense |
probably damaging |
1.00 |
hoot
|
UTSW |
5 |
105,959,626 (GRCm39) |
missense |
probably damaging |
1.00 |
BB009:Lrrc8d
|
UTSW |
5 |
105,960,891 (GRCm39) |
missense |
probably damaging |
1.00 |
BB019:Lrrc8d
|
UTSW |
5 |
105,960,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R0415:Lrrc8d
|
UTSW |
5 |
105,959,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R1424:Lrrc8d
|
UTSW |
5 |
105,974,782 (GRCm39) |
missense |
unknown |
|
R1754:Lrrc8d
|
UTSW |
5 |
105,960,523 (GRCm39) |
missense |
probably benign |
|
R3411:Lrrc8d
|
UTSW |
5 |
105,974,572 (GRCm39) |
intron |
noncoding transcript |
|
R3605:Lrrc8d
|
UTSW |
5 |
105,974,873 (GRCm39) |
missense |
unknown |
|
R3705:Lrrc8d
|
UTSW |
5 |
105,961,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R3798:Lrrc8d
|
UTSW |
5 |
105,960,355 (GRCm39) |
missense |
probably benign |
0.12 |
R3951:Lrrc8d
|
UTSW |
5 |
105,962,142 (GRCm39) |
missense |
probably benign |
0.00 |
R4300:Lrrc8d
|
UTSW |
5 |
105,961,606 (GRCm39) |
missense |
probably damaging |
0.99 |
R4953:Lrrc8d
|
UTSW |
5 |
105,961,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R5211:Lrrc8d
|
UTSW |
5 |
105,961,606 (GRCm39) |
missense |
probably damaging |
0.99 |
R5436:Lrrc8d
|
UTSW |
5 |
105,960,418 (GRCm39) |
missense |
probably damaging |
0.98 |
R5512:Lrrc8d
|
UTSW |
5 |
105,960,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R5512:Lrrc8d
|
UTSW |
5 |
105,960,651 (GRCm39) |
missense |
probably benign |
0.00 |
R5514:Lrrc8d
|
UTSW |
5 |
105,960,651 (GRCm39) |
missense |
probably benign |
0.00 |
R5514:Lrrc8d
|
UTSW |
5 |
105,960,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R5929:Lrrc8d
|
UTSW |
5 |
105,960,472 (GRCm39) |
missense |
probably damaging |
0.98 |
R6063:Lrrc8d
|
UTSW |
5 |
105,959,992 (GRCm39) |
missense |
probably benign |
0.01 |
R6379:Lrrc8d
|
UTSW |
5 |
105,960,675 (GRCm39) |
missense |
probably benign |
0.08 |
R6431:Lrrc8d
|
UTSW |
5 |
105,959,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R7127:Lrrc8d
|
UTSW |
5 |
105,960,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R7682:Lrrc8d
|
UTSW |
5 |
105,960,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R7821:Lrrc8d
|
UTSW |
5 |
105,960,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R7932:Lrrc8d
|
UTSW |
5 |
105,960,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R8528:Lrrc8d
|
UTSW |
5 |
105,960,352 (GRCm39) |
missense |
probably benign |
0.22 |
R8976:Lrrc8d
|
UTSW |
5 |
105,960,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R9063:Lrrc8d
|
UTSW |
5 |
105,961,959 (GRCm39) |
missense |
probably damaging |
0.97 |
R9116:Lrrc8d
|
UTSW |
5 |
105,961,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R9211:Lrrc8d
|
UTSW |
5 |
105,960,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R9358:Lrrc8d
|
UTSW |
5 |
105,960,358 (GRCm39) |
missense |
probably benign |
0.01 |
R9388:Lrrc8d
|
UTSW |
5 |
105,961,862 (GRCm39) |
missense |
probably damaging |
0.97 |
R9796:Lrrc8d
|
UTSW |
5 |
105,959,917 (GRCm39) |
missense |
probably benign |
0.01 |
RF003:Lrrc8d
|
UTSW |
5 |
105,960,507 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Lrrc8d
|
UTSW |
5 |
105,959,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTCAACCTTCCTGTGAGG -3'
(R):5'- TAGCGCTACTGTTCTGACTG -3'
Sequencing Primer
(F):5'- TGAGGTTCACAACAATCTTCCCAG -3'
(R):5'- CCTTGTAATCAATCCCAAGGCTTAGG -3'
|
Posted On |
2016-10-06 |