Incidental Mutation 'IGL01327:Lrrc8d'
| ID |
74308 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc8d
|
| Ensembl Gene |
ENSMUSG00000046079 |
| Gene Name |
leucine rich repeat containing 8D |
| Synonyms |
2810473G09Rik, 4930525N13Rik, Lrrc5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01327
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
105847829-105963081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105960131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 180
(S180R)
|
| 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: S180R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057293
Gene: ENSMUSG00000046079
AA Change: S180R
| 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: S180R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113603
Gene: ENSMUSG00000046079
AA Change: S180R
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
A |
4: 148,029,521 (GRCm39) |
V497E |
probably damaging |
Het |
| Adcy7 |
T |
G |
8: 89,045,418 (GRCm39) |
|
probably benign |
Het |
| Aldh1a2 |
T |
A |
9: 71,193,248 (GRCm39) |
F486I |
possibly damaging |
Het |
| Alox12 |
T |
A |
11: 70,145,375 (GRCm39) |
H66L |
probably benign |
Het |
| Apoh |
T |
G |
11: 108,288,187 (GRCm39) |
Y102D |
probably damaging |
Het |
| Arl9 |
T |
C |
5: 77,154,401 (GRCm39) |
V43A |
possibly damaging |
Het |
| Atf6 |
A |
G |
1: 170,616,175 (GRCm39) |
|
probably null |
Het |
| Atp4a |
T |
A |
7: 30,412,675 (GRCm39) |
I127N |
possibly damaging |
Het |
| AY358078 |
T |
A |
14: 52,043,166 (GRCm39) |
|
probably benign |
Het |
| Baat |
T |
G |
4: 49,490,338 (GRCm39) |
K249Q |
probably damaging |
Het |
| Brat1 |
C |
T |
5: 140,703,963 (GRCm39) |
Q739* |
probably null |
Het |
| C8g |
A |
G |
2: 25,389,089 (GRCm39) |
F165L |
probably damaging |
Het |
| Cel |
T |
G |
2: 28,447,967 (GRCm39) |
D353A |
possibly damaging |
Het |
| Col6a1 |
G |
T |
10: 76,546,813 (GRCm39) |
T803K |
unknown |
Het |
| Cpxm1 |
A |
G |
2: 130,238,277 (GRCm39) |
L95P |
probably benign |
Het |
| Ctsr |
A |
G |
13: 61,310,489 (GRCm39) |
|
probably benign |
Het |
| Cyth1 |
A |
G |
11: 118,084,439 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
A |
T |
12: 110,583,126 (GRCm39) |
|
probably benign |
Het |
| Ezh1 |
C |
T |
11: 101,094,262 (GRCm39) |
C407Y |
probably damaging |
Het |
| Fam243 |
T |
C |
16: 92,117,661 (GRCm39) |
Y209C |
probably benign |
Het |
| Gm3696 |
A |
T |
14: 18,435,903 (GRCm39) |
W38R |
probably benign |
Het |
| Gm9611 |
T |
C |
14: 42,116,622 (GRCm39) |
T39A |
possibly damaging |
Het |
| Gnpat |
T |
A |
8: 125,605,372 (GRCm39) |
L287H |
probably damaging |
Het |
| Golm1 |
G |
T |
13: 59,792,958 (GRCm39) |
N182K |
possibly damaging |
Het |
| Hdac6 |
T |
C |
X: 7,798,013 (GRCm39) |
M899V |
probably benign |
Het |
| Hsf3 |
T |
A |
X: 95,358,578 (GRCm39) |
M272L |
probably benign |
Het |
| Kif19a |
C |
T |
11: 114,672,625 (GRCm39) |
|
probably benign |
Het |
| Lcn2 |
T |
G |
2: 32,276,030 (GRCm39) |
Y100S |
possibly damaging |
Het |
| Ly6h |
A |
G |
15: 75,436,948 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,403,705 (GRCm39) |
N705D |
probably benign |
Het |
| Mst1r |
C |
T |
9: 107,785,043 (GRCm39) |
P234S |
probably benign |
Het |
| Msto1 |
T |
A |
3: 88,817,939 (GRCm39) |
|
probably null |
Het |
| Myo5a |
T |
A |
9: 75,094,820 (GRCm39) |
|
probably benign |
Het |
| Nipa1 |
T |
C |
7: 55,629,409 (GRCm39) |
I235V |
probably benign |
Het |
| Nlgn3 |
T |
C |
X: 100,362,228 (GRCm39) |
V399A |
probably benign |
Het |
| Or1d2 |
T |
A |
11: 74,255,738 (GRCm39) |
M81K |
possibly damaging |
Het |
| Or2b28 |
A |
G |
13: 21,531,377 (GRCm39) |
N93S |
probably benign |
Het |
| Pih1d1 |
T |
C |
7: 44,809,399 (GRCm39) |
S289P |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,905,508 (GRCm39) |
N1596D |
probably benign |
Het |
| Psmb6 |
T |
A |
11: 70,417,412 (GRCm39) |
S114R |
possibly damaging |
Het |
| Pum1 |
C |
A |
4: 130,457,854 (GRCm39) |
Q289K |
probably damaging |
Het |
| Shkbp1 |
T |
C |
7: 27,054,676 (GRCm39) |
I75V |
probably benign |
Het |
| Slc24a3 |
T |
A |
2: 145,444,478 (GRCm39) |
I284N |
probably benign |
Het |
| Slc44a3 |
C |
T |
3: 121,320,842 (GRCm39) |
G53D |
probably damaging |
Het |
| Slc9a4 |
A |
C |
1: 40,668,565 (GRCm39) |
D736A |
probably benign |
Het |
| Stra6 |
A |
G |
9: 58,059,854 (GRCm39) |
D605G |
probably benign |
Het |
| Tas2r126 |
T |
A |
6: 42,411,684 (GRCm39) |
H72Q |
probably benign |
Het |
| Tbrg1 |
C |
T |
9: 37,564,408 (GRCm39) |
R166Q |
probably benign |
Het |
| Thumpd1 |
C |
T |
7: 119,319,925 (GRCm39) |
G14R |
probably benign |
Het |
| Ticrr |
C |
T |
7: 79,344,209 (GRCm39) |
T1358I |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,184,340 (GRCm39) |
N518K |
probably benign |
Het |
| Trpm4 |
C |
A |
7: 44,964,497 (GRCm39) |
W533C |
probably damaging |
Het |
| Tsen54 |
T |
C |
11: 115,712,538 (GRCm39) |
Y119H |
possibly damaging |
Het |
| Tulp3 |
G |
A |
6: 128,304,597 (GRCm39) |
T219M |
probably damaging |
Het |
| Usp19 |
T |
C |
9: 108,376,160 (GRCm39) |
L1000S |
possibly damaging |
Het |
| Vps16 |
A |
T |
2: 130,279,616 (GRCm39) |
Y43F |
probably benign |
Het |
| Vsig1 |
T |
A |
X: 139,838,429 (GRCm39) |
V283E |
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 |
|
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 |
105,960,651 (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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation