Incidental Mutation 'R8976:Lrrc8d'
| ID |
683430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc8d
|
| Ensembl Gene |
ENSMUSG00000046079 |
| Gene Name |
leucine rich repeat containing 8D |
| Synonyms |
2810473G09Rik, 4930525N13Rik, Lrrc5 |
| MMRRC Submission |
068810-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8976 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
105847829-105963081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105960957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 456
(W456R)
|
| 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: W456R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057293
Gene: ENSMUSG00000046079
AA Change: W456R
| 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: W456R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113603
Gene: ENSMUSG00000046079
AA Change: W456R
| 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
|
| Meta Mutation Damage Score |
0.8954 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef11 |
A |
G |
3: 87,635,321 (GRCm39) |
I906V |
probably benign |
Het |
| Atad2b |
T |
A |
12: 4,967,923 (GRCm39) |
|
probably null |
Het |
| Atr |
T |
A |
9: 95,772,819 (GRCm39) |
D1243E |
probably benign |
Het |
| Baiap2l1 |
A |
T |
5: 144,223,117 (GRCm39) |
H73Q |
probably benign |
Het |
| Bdp1 |
C |
A |
13: 100,197,407 (GRCm39) |
G993* |
probably null |
Het |
| Cacna2d4 |
A |
T |
6: 119,315,118 (GRCm39) |
I883F |
possibly damaging |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Crem |
A |
G |
18: 3,268,088 (GRCm39) |
V80A |
possibly damaging |
Het |
| Cyp2j9 |
T |
C |
4: 96,479,399 (GRCm39) |
K62E |
probably benign |
Het |
| Dnah17 |
T |
A |
11: 117,917,666 (GRCm39) |
I4132F |
probably damaging |
Het |
| Dnm3 |
G |
A |
1: 162,135,505 (GRCm39) |
P423S |
probably damaging |
Het |
| Dop1b |
G |
T |
16: 93,558,969 (GRCm39) |
V572L |
probably benign |
Het |
| F12 |
T |
A |
13: 55,569,777 (GRCm39) |
|
probably benign |
Het |
| F2 |
A |
G |
2: 91,466,738 (GRCm39) |
S2P |
probably benign |
Het |
| Fam171a2 |
T |
C |
11: 102,329,451 (GRCm39) |
E436G |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,484,332 (GRCm39) |
V3190A |
probably benign |
Het |
| Flnb |
A |
T |
14: 7,901,882 (GRCm38) |
|
probably null |
Het |
| Frs3 |
A |
T |
17: 48,009,546 (GRCm39) |
D9V |
probably benign |
Het |
| Galnt17 |
T |
G |
5: 130,935,543 (GRCm39) |
E380A |
probably benign |
Het |
| Glrb |
A |
C |
3: 80,758,363 (GRCm39) |
V350G |
probably damaging |
Het |
| Helz2 |
T |
A |
2: 180,876,486 (GRCm39) |
K1336M |
possibly damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,428,650 (GRCm39) |
V159E |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,945,659 (GRCm39) |
E310G |
probably damaging |
Het |
| Il2rb |
C |
T |
15: 78,370,681 (GRCm39) |
D145N |
probably benign |
Het |
| Iqcb1 |
A |
G |
16: 36,692,005 (GRCm39) |
I535V |
probably benign |
Het |
| Keap1 |
A |
C |
9: 21,142,663 (GRCm39) |
L531V |
probably damaging |
Het |
| Med12l |
T |
A |
3: 59,183,329 (GRCm39) |
H1910Q |
probably damaging |
Het |
| Mybphl |
G |
A |
3: 108,272,334 (GRCm39) |
E8K |
probably damaging |
Het |
| Odad3 |
T |
A |
9: 21,903,334 (GRCm39) |
|
probably benign |
Het |
| Olig2 |
A |
G |
16: 91,023,363 (GRCm39) |
S26G |
probably benign |
Het |
| Or10a4 |
T |
C |
7: 106,697,466 (GRCm39) |
S265P |
possibly damaging |
Het |
| Or5p73 |
T |
A |
7: 108,064,630 (GRCm39) |
I33N |
possibly damaging |
Het |
| Or6f2 |
T |
C |
7: 139,756,885 (GRCm39) |
V284A |
probably damaging |
Het |
| Or7a38 |
T |
C |
10: 78,753,418 (GRCm39) |
I248T |
possibly damaging |
Het |
| Or7g22 |
T |
A |
9: 19,049,141 (GRCm39) |
M284K |
probably damaging |
Het |
| Pcdhb22 |
G |
A |
18: 37,651,396 (GRCm39) |
|
probably benign |
Het |
| Plekha8 |
A |
T |
6: 54,607,521 (GRCm39) |
E376V |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,638,037 (GRCm39) |
V144A |
possibly damaging |
Het |
| Pramel34 |
T |
A |
5: 93,785,977 (GRCm39) |
N101I |
probably damaging |
Het |
| Prr18 |
T |
C |
17: 8,560,047 (GRCm39) |
S68P |
probably damaging |
Het |
| Ptprk |
G |
A |
10: 28,461,669 (GRCm39) |
R1153H |
probably damaging |
Het |
| Pus1 |
A |
G |
5: 110,922,789 (GRCm39) |
F293L |
possibly damaging |
Het |
| Shank3 |
A |
G |
15: 89,442,381 (GRCm39) |
E1758G |
probably damaging |
Het |
| Ska3 |
A |
T |
14: 58,057,851 (GRCm39) |
I167N |
probably damaging |
Het |
| Ski |
A |
G |
4: 155,242,411 (GRCm39) |
S663P |
probably damaging |
Het |
| Slc49a3 |
A |
C |
5: 108,589,897 (GRCm39) |
S502A |
probably benign |
Het |
| Spa17 |
C |
T |
9: 37,523,254 (GRCm39) |
R11Q |
possibly damaging |
Het |
| Spag5 |
T |
C |
11: 78,195,413 (GRCm39) |
V240A |
probably benign |
Het |
| Srl |
A |
T |
16: 4,300,894 (GRCm39) |
Y726N |
probably damaging |
Het |
| Ssbp4 |
A |
T |
8: 71,052,336 (GRCm39) |
|
probably null |
Het |
| Surf1 |
A |
T |
2: 26,805,767 (GRCm39) |
C48S |
probably benign |
Het |
| Tigd3 |
G |
A |
19: 5,941,853 (GRCm39) |
P426S |
probably benign |
Het |
| Tmem176b |
A |
G |
6: 48,812,600 (GRCm39) |
S122P |
probably damaging |
Het |
| Trim23 |
G |
T |
13: 104,328,545 (GRCm39) |
L355F |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,545,110 (GRCm39) |
T32664M |
probably damaging |
Het |
| Ulk3 |
T |
A |
9: 57,502,220 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,511,169 (GRCm39) |
H59R |
possibly damaging |
Het |
| Vmn1r19 |
A |
G |
6: 57,381,719 (GRCm39) |
I91V |
probably benign |
Het |
| Vmn2r10 |
T |
A |
5: 109,145,479 (GRCm39) |
N543Y |
probably damaging |
Het |
| Zbtb14 |
G |
A |
17: 69,694,752 (GRCm39) |
R150H |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,487,079 (GRCm39) |
Y585H |
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 |
|
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 |
|
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 |
|
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'- GTACTCGTTTGAGAAAGTCCGGG -3'
(R):5'- TCTGTTCCACCTTTGCAGGG -3'
Sequencing Primer
(F):5'- CGGGAGGAGAGCAGCTTC -3'
(R):5'- ACCTTTGCAGGGCAGTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation