Incidental Mutation 'R5514:Lrrc8d'
| ID |
440226 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc8d
|
| Ensembl Gene |
ENSMUSG00000046079 |
| Gene Name |
leucine rich repeat containing 8D |
| Synonyms |
2810473G09Rik, 4930525N13Rik, Lrrc5 |
| MMRRC Submission |
043074-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5514 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
105847829-105963081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 105960650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 353
(F353L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060531]
[ENSMUST00000120847]
[ENSMUST00000127686]
[ENSMUST00000154807]
[ENSMUST00000156630]
|
| AlphaFold |
Q8BGR2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060531
AA Change: F353L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057293
Gene: ENSMUSG00000046079
AA Change: F353L
| 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: F353L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113603
Gene: ENSMUSG00000046079
AA Change: F353L
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
T |
C |
12: 21,390,520 (GRCm39) |
S382G |
probably damaging |
Het |
| Agr2 |
G |
A |
12: 36,046,090 (GRCm39) |
V74I |
probably benign |
Het |
| Aldh3a1 |
T |
C |
11: 61,108,867 (GRCm39) |
S423P |
probably damaging |
Het |
| Ampd1 |
C |
T |
3: 102,986,488 (GRCm39) |
H56Y |
possibly damaging |
Het |
| Arhgef2 |
C |
A |
3: 88,550,304 (GRCm39) |
P670T |
probably benign |
Het |
| Blk |
T |
G |
14: 63,615,930 (GRCm39) |
D333A |
probably damaging |
Het |
| Bmi1 |
T |
C |
2: 18,686,714 (GRCm39) |
I31T |
probably damaging |
Het |
| Cacna1d |
G |
A |
14: 30,072,790 (GRCm39) |
Q62* |
probably null |
Het |
| Ccdc88c |
A |
G |
12: 100,879,698 (GRCm39) |
S1801P |
probably damaging |
Het |
| Cdkal1 |
C |
T |
13: 29,961,270 (GRCm39) |
A100T |
probably damaging |
Het |
| Cfap251 |
G |
T |
5: 123,425,829 (GRCm39) |
|
probably null |
Het |
| Chst4 |
G |
T |
8: 110,756,606 (GRCm39) |
S419Y |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,649,844 (GRCm39) |
I680T |
probably damaging |
Het |
| Ddx55 |
T |
C |
5: 124,694,875 (GRCm39) |
V101A |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,411,091 (GRCm39) |
E451V |
probably damaging |
Het |
| Dffa |
T |
A |
4: 149,190,772 (GRCm39) |
|
probably null |
Het |
| Dgkd |
A |
G |
1: 87,861,832 (GRCm39) |
R796G |
probably damaging |
Het |
| Dzank1 |
T |
A |
2: 144,323,605 (GRCm39) |
M614L |
probably benign |
Het |
| Elf2 |
G |
T |
3: 51,215,555 (GRCm39) |
Q52K |
probably damaging |
Het |
| Fcamr |
T |
A |
1: 130,741,793 (GRCm39) |
L522Q |
probably damaging |
Het |
| Fscn2 |
T |
C |
11: 120,258,858 (GRCm39) |
Y468H |
probably damaging |
Het |
| Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
| Gm4787 |
A |
G |
12: 81,425,102 (GRCm39) |
V352A |
possibly damaging |
Het |
| Gtsf1 |
T |
C |
15: 103,336,802 (GRCm39) |
Q13R |
probably benign |
Het |
| Itpkb |
G |
A |
1: 180,241,474 (GRCm39) |
V715M |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,053,928 (GRCm39) |
S263T |
probably damaging |
Het |
| Krba1 |
T |
G |
6: 48,390,429 (GRCm39) |
L736R |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,630,901 (GRCm39) |
V2286E |
probably damaging |
Het |
| Mybbp1a |
T |
A |
11: 72,341,462 (GRCm39) |
V1100E |
possibly damaging |
Het |
| Myo5a |
G |
A |
9: 75,061,048 (GRCm39) |
G518D |
probably damaging |
Het |
| Nalcn |
A |
T |
14: 123,521,123 (GRCm39) |
I1594N |
probably benign |
Het |
| Nav1 |
C |
G |
1: 135,398,299 (GRCm39) |
G761A |
probably benign |
Het |
| Ncoa2 |
A |
T |
1: 13,251,445 (GRCm39) |
L276H |
probably damaging |
Het |
| Ndufaf7 |
T |
C |
17: 79,245,051 (GRCm39) |
Y57H |
probably damaging |
Het |
| Nfkb2 |
A |
G |
19: 46,299,847 (GRCm39) |
Y807C |
probably damaging |
Het |
| Nid2 |
A |
T |
14: 19,852,535 (GRCm39) |
Q1081L |
probably damaging |
Het |
| Nkain2 |
T |
A |
10: 31,827,189 (GRCm39) |
I134F |
probably damaging |
Het |
| Nmu |
A |
C |
5: 76,497,979 (GRCm39) |
S69A |
probably damaging |
Het |
| Or4c15b |
A |
T |
2: 89,112,817 (GRCm39) |
I220N |
probably damaging |
Het |
| Or5t7 |
T |
C |
2: 86,507,225 (GRCm39) |
I151V |
probably benign |
Het |
| Pard3 |
A |
G |
8: 128,153,086 (GRCm39) |
R886G |
probably damaging |
Het |
| Pde6b |
G |
T |
5: 108,571,317 (GRCm39) |
Q423H |
probably benign |
Het |
| Pip5k1b |
A |
T |
19: 24,327,505 (GRCm39) |
D450E |
probably damaging |
Het |
| Plcg1 |
T |
C |
2: 160,595,275 (GRCm39) |
|
probably null |
Het |
| Pnpt1 |
T |
C |
11: 29,103,246 (GRCm39) |
S504P |
possibly damaging |
Het |
| Pomt2 |
A |
T |
12: 87,175,797 (GRCm39) |
D312E |
probably damaging |
Het |
| Ppp1r1b |
T |
C |
11: 98,246,228 (GRCm39) |
L70P |
probably damaging |
Het |
| Prr5 |
C |
A |
15: 84,587,096 (GRCm39) |
P282Q |
probably benign |
Het |
| Reln |
A |
T |
5: 22,176,883 (GRCm39) |
W1928R |
possibly damaging |
Het |
| Sacm1l |
A |
T |
9: 123,415,419 (GRCm39) |
R465* |
probably null |
Het |
| Sema7a |
A |
G |
9: 57,863,046 (GRCm39) |
Y239C |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,044,054 (GRCm39) |
T3531A |
possibly damaging |
Het |
| Tjp1 |
A |
T |
7: 65,004,609 (GRCm39) |
W19R |
probably damaging |
Het |
| Tmc2 |
T |
A |
2: 130,083,564 (GRCm39) |
M507K |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,095,795 (GRCm39) |
Y1241H |
probably damaging |
Het |
| Upp1 |
C |
T |
11: 9,081,771 (GRCm39) |
P103S |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,221,624 (GRCm39) |
E663G |
probably damaging |
Het |
| Vmn2r68 |
G |
A |
7: 84,886,767 (GRCm39) |
T49I |
possibly damaging |
Het |
| Xirp2 |
A |
T |
2: 67,335,465 (GRCm39) |
M95L |
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 |
|
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 |
|
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'- TAAGGAAATTCCGTGCCCAC -3'
(R):5'- TCGACCATGTGCAGAAGGAAC -3'
Sequencing Primer
(F):5'- CACGTGGAAGACAGTGACTTGATC -3'
(R):5'- CAAAGTCGTTCTTGACATCCGGG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation