Incidental Mutation 'R3951:Lrrc8d'
| ID |
307927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc8d
|
| Ensembl Gene |
ENSMUSG00000046079 |
| Gene Name |
leucine rich repeat containing 8D |
| Synonyms |
2810473G09Rik, 4930525N13Rik, Lrrc5 |
| MMRRC Submission |
040828-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3951 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
105847829-105963081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 105962142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 851
(V851F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060531]
[ENSMUST00000120847]
[ENSMUST00000127686]
[ENSMUST00000154807]
[ENSMUST00000156630]
|
| AlphaFold |
Q8BGR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060531
AA Change: V851F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000057293
Gene: ENSMUSG00000046079
AA Change: V851F
| 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
AA Change: V851F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113603
Gene: ENSMUSG00000046079
AA Change: V851F
| 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: ENSMUST00000135958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149831
|
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
C |
10: 100,451,158 (GRCm39) |
|
probably benign |
Het |
| 4932414N04Rik |
T |
C |
2: 68,494,747 (GRCm39) |
|
probably null |
Het |
| Akr1c18 |
C |
T |
13: 4,185,284 (GRCm39) |
V283I |
probably benign |
Het |
| Atp2b2 |
T |
A |
6: 113,737,792 (GRCm39) |
M861L |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,493,105 (GRCm39) |
Y3C |
probably benign |
Het |
| Clspn |
A |
G |
4: 126,470,172 (GRCm39) |
E814G |
probably damaging |
Het |
| Csgalnact1 |
T |
C |
8: 68,913,914 (GRCm39) |
Q97R |
probably benign |
Het |
| Dera |
A |
G |
6: 137,814,118 (GRCm39) |
Y100C |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,184,269 (GRCm39) |
D517E |
probably benign |
Het |
| Epha4 |
A |
T |
1: 77,376,353 (GRCm39) |
Y509N |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,187,208 (GRCm39) |
T1213A |
probably benign |
Het |
| Fkbp8 |
T |
A |
8: 70,985,311 (GRCm39) |
L275Q |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,517,708 (GRCm39) |
Y510C |
probably damaging |
Het |
| Gda |
T |
C |
19: 21,449,809 (GRCm39) |
T16A |
probably benign |
Het |
| Ggcx |
G |
A |
6: 72,403,541 (GRCm39) |
G363R |
probably benign |
Het |
| Gm527 |
T |
G |
12: 64,970,276 (GRCm39) |
|
probably benign |
Het |
| Hoxb2 |
A |
G |
11: 96,244,001 (GRCm39) |
E204G |
probably damaging |
Het |
| Hsd17b11 |
G |
A |
5: 104,140,803 (GRCm39) |
|
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,249,249 (GRCm39) |
|
probably benign |
Het |
| Kif16b |
C |
T |
2: 142,549,279 (GRCm39) |
V1079I |
probably benign |
Het |
| Klhl29 |
T |
A |
12: 5,190,660 (GRCm39) |
S112C |
probably damaging |
Het |
| Lpcat2 |
G |
T |
8: 93,591,531 (GRCm39) |
M58I |
probably benign |
Het |
| Ltbp3 |
T |
C |
19: 5,806,029 (GRCm39) |
V929A |
probably damaging |
Het |
| Map3k20 |
T |
G |
2: 72,268,644 (GRCm39) |
I550M |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,769,295 (GRCm39) |
M941V |
probably benign |
Het |
| Myom2 |
A |
T |
8: 15,134,556 (GRCm39) |
Y453F |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,163,747 (GRCm39) |
K78E |
probably damaging |
Het |
| Ncor2 |
G |
T |
5: 125,109,320 (GRCm39) |
D1496E |
possibly damaging |
Het |
| Ndnf |
T |
C |
6: 65,680,125 (GRCm39) |
Y135H |
possibly damaging |
Het |
| Ndst1 |
T |
C |
18: 60,830,211 (GRCm39) |
N633S |
probably benign |
Het |
| Nmur2 |
G |
C |
11: 55,931,051 (GRCm39) |
P220R |
probably damaging |
Het |
| Nsd1 |
G |
C |
13: 55,416,267 (GRCm39) |
E1438Q |
probably benign |
Het |
| Or5al7 |
G |
T |
2: 85,992,962 (GRCm39) |
C110* |
probably null |
Het |
| Or5w10 |
T |
C |
2: 87,375,409 (GRCm39) |
T160A |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,822,021 (GRCm39) |
R307S |
probably benign |
Het |
| Or9s23 |
T |
A |
1: 92,501,511 (GRCm39) |
M206K |
possibly damaging |
Het |
| Pom121l2 |
T |
G |
13: 22,166,298 (GRCm39) |
S190A |
probably damaging |
Het |
| Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
| Rtn4ip1 |
T |
A |
10: 43,785,893 (GRCm39) |
|
probably null |
Het |
| Scarb1 |
A |
C |
5: 125,364,475 (GRCm39) |
C85G |
probably damaging |
Het |
| Sh2d4b |
A |
G |
14: 40,594,503 (GRCm39) |
I159T |
probably damaging |
Het |
| Skic3 |
T |
G |
13: 76,278,338 (GRCm39) |
L551V |
probably damaging |
Het |
| Sntg1 |
C |
T |
1: 8,853,125 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
G |
A |
17: 80,731,610 (GRCm39) |
T630I |
probably damaging |
Het |
| Spata7 |
T |
A |
12: 98,635,732 (GRCm39) |
D517E |
probably damaging |
Het |
| Tcaf1 |
T |
C |
6: 42,655,993 (GRCm39) |
T328A |
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,331,817 (GRCm39) |
L776S |
probably damaging |
Het |
| Trpc2 |
T |
A |
7: 101,742,781 (GRCm39) |
M597K |
probably damaging |
Het |
| Tubb3 |
C |
A |
8: 124,148,003 (GRCm39) |
T312N |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,120,405 (GRCm39) |
V277M |
probably damaging |
Het |
| Uhrf2 |
G |
A |
19: 30,057,261 (GRCm39) |
R473Q |
probably damaging |
Het |
| Vmn2r43 |
T |
A |
7: 8,258,319 (GRCm39) |
H298L |
probably benign |
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 |
|
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 |
105,960,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5512:Lrrc8d
|
UTSW |
5 |
105,960,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5514:Lrrc8d
|
UTSW |
5 |
105,960,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5514:Lrrc8d
|
UTSW |
5 |
105,960,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- ACTTTGAACCTGGGGCAGAAC -3'
(R):5'- GAACATTCGGTTTCGTCTGCTAC -3'
Sequencing Primer
(F):5'- TTGAACCTGGGGCAGAACTGTATC -3'
(R):5'- ACCAGCCTCTATGCATCGTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation