Incidental Mutation 'R7127:Lrrc8d'
| ID |
552383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc8d
|
| Ensembl Gene |
ENSMUSG00000046079 |
| Gene Name |
leucine rich repeat containing 8D |
| Synonyms |
2810473G09Rik, 4930525N13Rik, Lrrc5 |
| MMRRC Submission |
045246-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7127 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
105847829-105963081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105960829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 413
(V413A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060531]
[ENSMUST00000120847]
[ENSMUST00000127686]
[ENSMUST00000154807]
[ENSMUST00000156630]
|
| AlphaFold |
Q8BGR2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060531
AA Change: V413A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057293
Gene: ENSMUSG00000046079
AA Change: V413A
| 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 damaging
Transcript: ENSMUST00000120847
AA Change: V413A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113603
Gene: ENSMUSG00000046079
AA Change: V413A
| 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 |
probably benign
Transcript: ENSMUST00000154807
|
| SMART Domains |
Protein: ENSMUSP00000114662
Gene: ENSMUSG00000046079
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3733
|
1 |
65 |
1.8e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156630
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
C |
T |
7: 119,931,825 (GRCm39) |
T26I |
probably benign |
Het |
| Adam5 |
A |
T |
8: 25,300,797 (GRCm39) |
I244N |
probably damaging |
Het |
| Adam7 |
A |
G |
14: 68,752,218 (GRCm39) |
|
probably null |
Het |
| Aox4 |
T |
A |
1: 58,268,033 (GRCm39) |
N204K |
probably benign |
Het |
| Arl13b |
C |
T |
16: 62,622,102 (GRCm39) |
G397D |
probably damaging |
Het |
| AU041133 |
T |
C |
10: 81,986,700 (GRCm39) |
F118L |
probably benign |
Het |
| Brinp1 |
C |
T |
4: 68,711,260 (GRCm39) |
R316H |
probably benign |
Het |
| Cabcoco1 |
C |
T |
10: 68,272,160 (GRCm39) |
V268I |
probably benign |
Het |
| Car15 |
T |
C |
16: 17,656,060 (GRCm39) |
|
probably benign |
Het |
| Ccdc185 |
G |
T |
1: 182,576,421 (GRCm39) |
D89E |
possibly damaging |
Het |
| Cckar |
T |
A |
5: 53,863,817 (GRCm39) |
Y48F |
probably damaging |
Het |
| Cdyl |
T |
A |
13: 36,040,651 (GRCm39) |
S282T |
probably benign |
Het |
| Clca3a1 |
T |
C |
3: 144,711,806 (GRCm39) |
T730A |
probably damaging |
Het |
| Cracr2b |
T |
C |
7: 141,045,695 (GRCm39) |
S318P |
possibly damaging |
Het |
| Depdc1b |
T |
C |
13: 108,460,462 (GRCm39) |
F24S |
probably damaging |
Het |
| Duox2 |
C |
T |
2: 122,122,430 (GRCm39) |
G565D |
probably benign |
Het |
| Ehbp1 |
A |
T |
11: 22,003,529 (GRCm39) |
Y1073* |
probably null |
Het |
| Epg5 |
A |
T |
18: 78,072,140 (GRCm39) |
N2384I |
probably damaging |
Het |
| Fam171b |
A |
G |
2: 83,710,110 (GRCm39) |
D594G |
probably benign |
Het |
| Flad1 |
A |
G |
3: 89,310,725 (GRCm39) |
Y441H |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,636,703 (GRCm39) |
T2150A |
probably benign |
Het |
| Fnta |
C |
A |
8: 26,497,231 (GRCm39) |
R206L |
probably damaging |
Het |
| Gadd45b |
A |
T |
10: 80,766,999 (GRCm39) |
M95L |
probably benign |
Het |
| Gbp8 |
A |
T |
5: 105,165,578 (GRCm39) |
H358Q |
probably benign |
Het |
| Glipr1l3 |
C |
A |
10: 111,983,995 (GRCm39) |
G157V |
probably damaging |
Het |
| Hoxc13 |
T |
C |
15: 102,829,903 (GRCm39) |
I94T |
possibly damaging |
Het |
| Hunk |
A |
G |
16: 90,272,779 (GRCm39) |
D361G |
probably damaging |
Het |
| Igkv3-4 |
T |
A |
6: 70,649,155 (GRCm39) |
Y51* |
probably null |
Het |
| Kif26a |
C |
T |
12: 112,144,579 (GRCm39) |
P1611L |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,374,314 (GRCm39) |
L1559P |
probably damaging |
Het |
| Med6 |
C |
T |
12: 81,635,774 (GRCm39) |
R86Q |
probably damaging |
Het |
| Myrf |
A |
T |
19: 10,192,705 (GRCm39) |
S605T |
probably benign |
Het |
| Or6c66b |
T |
A |
10: 129,376,936 (GRCm39) |
C177S |
probably damaging |
Het |
| Plk3 |
A |
T |
4: 116,987,767 (GRCm39) |
V429E |
probably benign |
Het |
| Plrg1 |
C |
T |
3: 82,967,222 (GRCm39) |
P131L |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,831 (GRCm39) |
R318* |
probably null |
Het |
| Rab34 |
A |
T |
11: 78,082,056 (GRCm39) |
K152* |
probably null |
Het |
| Rasef |
A |
T |
4: 73,662,369 (GRCm39) |
S194T |
probably damaging |
Het |
| Rcc1 |
A |
G |
4: 132,062,107 (GRCm39) |
S269P |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,229,443 (GRCm39) |
F830L |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
C |
T |
13: 11,670,599 (GRCm39) |
V3466M |
probably damaging |
Het |
| Scin |
A |
G |
12: 40,155,071 (GRCm39) |
I174T |
possibly damaging |
Het |
| Serpinb8 |
A |
G |
1: 107,525,200 (GRCm39) |
M1V |
probably null |
Het |
| Smok3c |
A |
T |
5: 138,062,971 (GRCm39) |
I153F |
probably damaging |
Het |
| Spen |
G |
A |
4: 141,203,419 (GRCm39) |
S1736L |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,426,446 (GRCm39) |
M155K |
probably benign |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Sun2 |
T |
C |
15: 79,612,100 (GRCm39) |
I528M |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,193,180 (GRCm39) |
A3956V |
probably damaging |
Het |
| Taok2 |
G |
T |
7: 126,466,326 (GRCm39) |
A831E |
possibly damaging |
Het |
| Tas2r126 |
T |
C |
6: 42,411,739 (GRCm39) |
F91L |
probably damaging |
Het |
| Tas2r140 |
A |
G |
6: 133,031,922 (GRCm39) |
S279P |
possibly damaging |
Het |
| Tiam1 |
A |
T |
16: 89,657,148 (GRCm39) |
L696H |
probably damaging |
Het |
| Trank1 |
T |
G |
9: 111,194,864 (GRCm39) |
S963A |
possibly damaging |
Het |
| Trf |
A |
G |
9: 103,102,326 (GRCm39) |
V184A |
probably benign |
Het |
| Ttll13 |
T |
A |
7: 79,903,406 (GRCm39) |
M231K |
possibly damaging |
Het |
| Tuba1a |
T |
G |
15: 98,849,455 (GRCm39) |
T41P |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,478,104 (GRCm39) |
Q3573R |
probably damaging |
Het |
| Zfp141 |
G |
A |
7: 42,124,853 (GRCm39) |
H540Y |
probably damaging |
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 |
|
R5531:Lrrc8d
|
UTSW |
5 |
105,945,536 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
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'- GTCTGCAAGCCAAAAGTCG -3'
(R):5'- TGCTTATCCTGGGCATTGCG -3'
Sequencing Primer
(F):5'- GTTCGAGTGCACTCACAATATGGC -3'
(R):5'- ATTGCGGGACACGTGCTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation