Incidental Mutation 'R9796:Lrrc8d'
| ID |
734932 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc8d
|
| Ensembl Gene |
ENSMUSG00000046079 |
| Gene Name |
leucine rich repeat containing 8D |
| Synonyms |
2810473G09Rik, 4930525N13Rik, Lrrc5 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9796 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
105847829-105963081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105959917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 109
(D109V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060531]
[ENSMUST00000120847]
[ENSMUST00000127686]
[ENSMUST00000154807]
[ENSMUST00000156630]
|
| AlphaFold |
Q8BGR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060531
AA Change: D109V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000057293
Gene: ENSMUSG00000046079
AA Change: D109V
| 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: D109V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000113603
Gene: ENSMUSG00000046079
AA Change: D109V
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
C |
T |
10: 29,101,349 (GRCm39) |
T574I |
possibly damaging |
Het |
| Aadac |
T |
G |
3: 59,945,882 (GRCm39) |
V184G |
probably damaging |
Het |
| Adam6b |
G |
A |
12: 113,454,272 (GRCm39) |
C363Y |
probably damaging |
Het |
| Adamts8 |
T |
A |
9: 30,862,569 (GRCm39) |
I258N |
probably damaging |
Het |
| Adarb2 |
C |
T |
13: 8,619,852 (GRCm39) |
L113F |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,302,824 (GRCm39) |
N1099S |
probably damaging |
Het |
| Alg10b |
G |
T |
15: 90,108,728 (GRCm39) |
A30S |
possibly damaging |
Het |
| Als2 |
T |
A |
1: 59,209,601 (GRCm39) |
E1460D |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,608,801 (GRCm39) |
R1515* |
probably null |
Het |
| Asxl2 |
C |
T |
12: 3,546,508 (GRCm39) |
P431S |
probably benign |
Het |
| AU018091 |
A |
T |
7: 3,213,785 (GRCm39) |
V153D |
probably damaging |
Het |
| Cd177 |
A |
G |
7: 24,459,169 (GRCm39) |
V80A |
probably benign |
Het |
| Cdc16 |
G |
T |
8: 13,807,693 (GRCm39) |
|
probably benign |
Het |
| Cdk14 |
A |
G |
5: 5,316,012 (GRCm39) |
S4P |
probably benign |
Het |
| Ctu2 |
A |
T |
8: 123,202,989 (GRCm39) |
Y8F |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,342,537 (GRCm39) |
F1294L |
probably damaging |
Het |
| Epha7 |
A |
G |
4: 28,817,457 (GRCm39) |
D37G |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,278 (GRCm39) |
N325I |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,158,941 (GRCm39) |
M2275L |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,674,055 (GRCm39) |
K9E |
possibly damaging |
Het |
| Gm3696 |
T |
C |
14: 18,435,140 (GRCm39) |
N48S |
possibly damaging |
Het |
| Greb1l |
A |
G |
18: 10,538,233 (GRCm39) |
E1082G |
possibly damaging |
Het |
| Gtdc1 |
A |
T |
2: 44,715,386 (GRCm39) |
N52K |
probably benign |
Het |
| Hrh2 |
C |
T |
13: 54,375,241 (GRCm39) |
T359I |
probably benign |
Het |
| Ifi44l |
A |
G |
3: 151,468,419 (GRCm39) |
V37A |
|
Het |
| Igfn1 |
C |
A |
1: 135,897,611 (GRCm39) |
W985L |
probably benign |
Het |
| Il22b |
A |
G |
10: 118,130,081 (GRCm39) |
S108P |
probably benign |
Het |
| Il23a |
G |
C |
10: 128,132,829 (GRCm39) |
R143G |
probably benign |
Het |
| Kcnv1 |
T |
C |
15: 44,977,987 (GRCm39) |
D17G |
unknown |
Het |
| Klk1 |
T |
C |
7: 43,877,965 (GRCm39) |
W74R |
possibly damaging |
Het |
| Lmntd2 |
A |
T |
7: 140,793,597 (GRCm39) |
N96K |
possibly damaging |
Het |
| Lrch4 |
A |
G |
5: 137,635,269 (GRCm39) |
H253R |
probably damaging |
Het |
| Magi3 |
T |
C |
3: 103,928,291 (GRCm39) |
T1004A |
probably benign |
Het |
| Mapk10 |
A |
G |
5: 103,135,101 (GRCm39) |
V287A |
possibly damaging |
Het |
| Mtss2 |
G |
A |
8: 111,456,753 (GRCm39) |
|
probably null |
Het |
| Mybpc1 |
T |
C |
10: 88,406,497 (GRCm39) |
I116V |
possibly damaging |
Het |
| Mylk4 |
T |
A |
13: 32,900,643 (GRCm39) |
M296L |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,527,969 (GRCm39) |
F2238S |
probably damaging |
Het |
| Or11g26 |
G |
T |
14: 50,753,229 (GRCm39) |
L189F |
probably damaging |
Het |
| Pax6 |
T |
C |
2: 105,522,541 (GRCm39) |
F243L |
probably damaging |
Het |
| Pcdhb22 |
G |
A |
18: 37,652,404 (GRCm39) |
E34K |
possibly damaging |
Het |
| Pdzrn4 |
T |
A |
15: 92,578,353 (GRCm39) |
F359I |
possibly damaging |
Het |
| Prkn |
A |
T |
17: 11,456,554 (GRCm39) |
D126V |
possibly damaging |
Het |
| Rnf168 |
C |
T |
16: 32,117,872 (GRCm39) |
R478C |
probably damaging |
Het |
| Sh3gl2 |
G |
A |
4: 85,295,765 (GRCm39) |
V156I |
possibly damaging |
Het |
| Taf2 |
A |
T |
15: 54,910,832 (GRCm39) |
M614K |
probably damaging |
Het |
| Tbc1d31 |
G |
A |
15: 57,833,179 (GRCm39) |
V973M |
probably damaging |
Het |
| Tmem131l |
T |
G |
3: 83,829,402 (GRCm39) |
K1085T |
probably damaging |
Het |
| Tpst1 |
A |
G |
5: 130,163,300 (GRCm39) |
T366A |
probably benign |
Het |
| Unc50 |
A |
G |
1: 37,471,679 (GRCm39) |
T110A |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,172 (GRCm39) |
H128R |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,631,828 (GRCm39) |
N2602K |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,854,505 (GRCm39) |
|
probably null |
Het |
| Vps50 |
A |
G |
6: 3,562,300 (GRCm39) |
E465G |
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 |
|
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 |
|
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'- CATCTTTGCAGGGACCATGC -3'
(R):5'- CTGACCATAAGGATGATGGTGTG -3'
Sequencing Primer
(F):5'- TTTGCAGGGACCATGCAACTTAC -3'
(R):5'- CCATAAGGATGATGGTGTGTATAAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation