Incidental Mutation 'R5211:Lrrc8d'
| ID |
403126 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc8d
|
| Ensembl Gene |
ENSMUSG00000046079 |
| Gene Name |
leucine rich repeat containing 8D |
| Synonyms |
2810473G09Rik, 4930525N13Rik, Lrrc5 |
| MMRRC Submission |
042785-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5211 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
105847829-105963081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 105961606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 672
(R672Q)
|
| 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: R672Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057293
Gene: ENSMUSG00000046079
AA Change: R672Q
| 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: R672Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113603
Gene: ENSMUSG00000046079
AA Change: R672Q
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
A |
G |
14: 70,394,233 (GRCm39) |
S181P |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,733,511 (GRCm39) |
T112S |
probably benign |
Het |
| Ascc2 |
T |
C |
11: 4,623,399 (GRCm39) |
V545A |
possibly damaging |
Het |
| Bmp2 |
A |
T |
2: 133,396,550 (GRCm39) |
S69C |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,973,962 (GRCm39) |
I1378K |
probably benign |
Het |
| Ces2b |
C |
T |
8: 105,561,695 (GRCm39) |
T263I |
possibly damaging |
Het |
| Cntn5 |
A |
T |
9: 9,704,894 (GRCm39) |
V635D |
possibly damaging |
Het |
| Dock6 |
T |
C |
9: 21,731,648 (GRCm39) |
E1218G |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,804,145 (GRCm39) |
I319V |
probably benign |
Het |
| Esd |
T |
C |
14: 74,978,632 (GRCm39) |
S65P |
probably damaging |
Het |
| Exoc1l |
C |
A |
5: 76,664,250 (GRCm39) |
T113K |
possibly damaging |
Het |
| Fstl3 |
A |
T |
10: 79,616,012 (GRCm39) |
Q166L |
probably benign |
Het |
| Garin1a |
A |
T |
6: 29,286,098 (GRCm39) |
K128* |
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,757,371 (GRCm39) |
S2445T |
probably benign |
Het |
| Gfy |
C |
A |
7: 44,827,282 (GRCm39) |
L271F |
possibly damaging |
Het |
| Gjc2 |
A |
G |
11: 59,068,284 (GRCm39) |
V66A |
possibly damaging |
Het |
| H3c4 |
G |
T |
13: 23,760,015 (GRCm39) |
G14C |
possibly damaging |
Het |
| Itm2c |
T |
A |
1: 85,834,249 (GRCm39) |
V188E |
probably damaging |
Het |
| Jmjd1c |
C |
G |
10: 67,067,795 (GRCm39) |
S1766C |
probably damaging |
Het |
| Kcnn3 |
A |
G |
3: 89,428,538 (GRCm39) |
T255A |
probably benign |
Het |
| Kdm4d |
A |
C |
9: 14,374,400 (GRCm39) |
V486G |
probably benign |
Het |
| Krt18 |
T |
G |
15: 101,939,888 (GRCm39) |
I362S |
probably damaging |
Het |
| Ly6f |
G |
A |
15: 75,143,652 (GRCm39) |
V120M |
probably damaging |
Het |
| Map3k4 |
A |
G |
17: 12,451,321 (GRCm39) |
V1524A |
possibly damaging |
Het |
| Mrgprh |
T |
C |
17: 13,095,889 (GRCm39) |
V43A |
probably benign |
Het |
| Mx2 |
A |
T |
16: 97,348,633 (GRCm39) |
M269L |
probably damaging |
Het |
| Myrfl |
C |
T |
10: 116,634,535 (GRCm39) |
V620I |
probably benign |
Het |
| Nlrp9b |
G |
A |
7: 19,783,381 (GRCm39) |
C908Y |
probably damaging |
Het |
| Nyap2 |
T |
A |
1: 81,064,991 (GRCm39) |
M1K |
probably null |
Het |
| Olfml3 |
A |
T |
3: 103,644,515 (GRCm39) |
H51Q |
probably benign |
Het |
| Or11h6 |
C |
T |
14: 50,880,710 (GRCm39) |
T324I |
possibly damaging |
Het |
| Pcdhb1 |
G |
A |
18: 37,399,704 (GRCm39) |
V552I |
probably benign |
Het |
| Pm20d1 |
T |
A |
1: 131,734,647 (GRCm39) |
I353N |
possibly damaging |
Het |
| Sbk2 |
A |
G |
7: 4,965,966 (GRCm39) |
F73L |
possibly damaging |
Het |
| Scn10a |
A |
C |
9: 119,490,298 (GRCm39) |
L548R |
possibly damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,204,117 (GRCm39) |
Y68C |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,707,093 (GRCm39) |
V611A |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,769,814 (GRCm39) |
M164V |
probably benign |
Het |
| Syt17 |
T |
C |
7: 118,041,626 (GRCm39) |
S43G |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,723,651 (GRCm39) |
T1303A |
possibly damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,746,257 (GRCm39) |
Y535C |
possibly 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 |
|
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'- TCTAACATCACCGACGTGGC -3'
(R):5'- TAGCTGACGTCTAAGCATCTG -3'
Sequencing Primer
(F):5'- GCTCCGCACCTCACGAAG -3'
(R):5'- GCTGACGTCTAAGCATCTGAGTTTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation