Incidental Mutation 'IGL02524:Lrrc8e'
ID |
296977 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrc8e
|
Ensembl Gene |
ENSMUSG00000046589 |
Gene Name |
leucine rich repeat containing 8 family, member E |
Synonyms |
1810049O03Rik, C87354 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
IGL02524
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
4276827-4287470 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 4285392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 539
(L539R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052055
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003027]
[ENSMUST00000053035]
[ENSMUST00000062686]
[ENSMUST00000110994]
[ENSMUST00000110995]
[ENSMUST00000110998]
[ENSMUST00000110999]
[ENSMUST00000207770]
[ENSMUST00000145165]
|
AlphaFold |
Q66JT1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003027
|
SMART Domains |
Protein: ENSMUSP00000003027 Gene: ENSMUSG00000002948
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
69 |
89 |
N/A |
INTRINSIC |
S_TKc
|
136 |
396 |
8.43e-72 |
SMART |
low complexity region
|
435 |
455 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053035
AA Change: L539R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052055 Gene: ENSMUSG00000046589 AA Change: L539R
Domain | Start | End | E-Value | Type |
Pfam:Pannexin_like
|
1 |
330 |
3.8e-143 |
PFAM |
low complexity region
|
504 |
516 |
N/A |
INTRINSIC |
LRR
|
603 |
627 |
3.97e0 |
SMART |
LRR
|
628 |
650 |
2.33e2 |
SMART |
LRR_TYP
|
651 |
674 |
6.08e-5 |
SMART |
LRR
|
676 |
696 |
6.78e1 |
SMART |
LRR_TYP
|
697 |
720 |
2.43e-4 |
SMART |
LRR
|
721 |
742 |
1.09e2 |
SMART |
LRR_TYP
|
743 |
766 |
9.44e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000062686
|
SMART Domains |
Protein: ENSMUSP00000054512 Gene: ENSMUSG00000002948
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
69 |
89 |
N/A |
INTRINSIC |
S_TKc
|
136 |
396 |
8.43e-72 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110994
|
SMART Domains |
Protein: ENSMUSP00000106622 Gene: ENSMUSG00000002948
Domain | Start | End | E-Value | Type |
S_TKc
|
47 |
307 |
8.43e-72 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110995
|
SMART Domains |
Protein: ENSMUSP00000106623 Gene: ENSMUSG00000002948
Domain | Start | End | E-Value | Type |
S_TKc
|
47 |
307 |
8.43e-72 |
SMART |
low complexity region
|
346 |
366 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110998
|
SMART Domains |
Protein: ENSMUSP00000106626 Gene: ENSMUSG00000002948
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
low complexity region
|
53 |
73 |
N/A |
INTRINSIC |
S_TKc
|
120 |
380 |
8.43e-72 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110999
|
SMART Domains |
Protein: ENSMUSP00000106627 Gene: ENSMUSG00000002948
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
low complexity region
|
53 |
73 |
N/A |
INTRINSIC |
S_TKc
|
120 |
380 |
8.43e-72 |
SMART |
low complexity region
|
419 |
439 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207770
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145165
|
SMART Domains |
Protein: ENSMUSP00000117418 Gene: ENSMUSG00000109061
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
69 |
89 |
N/A |
INTRINSIC |
S_TKc
|
136 |
396 |
8.43e-72 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
Acvr1 |
T |
C |
2: 58,338,319 (GRCm39) |
|
probably benign |
Het |
Asap3 |
A |
T |
4: 135,965,927 (GRCm39) |
T453S |
probably damaging |
Het |
Ccdc110 |
C |
T |
8: 46,394,979 (GRCm39) |
P290L |
probably benign |
Het |
Ccdc127 |
A |
G |
13: 74,501,016 (GRCm39) |
N11S |
probably damaging |
Het |
Cd80 |
T |
C |
16: 38,303,045 (GRCm39) |
V164A |
probably benign |
Het |
Ctnna3 |
T |
C |
10: 64,096,605 (GRCm39) |
I381T |
possibly damaging |
Het |
Epha7 |
A |
T |
4: 28,821,494 (GRCm39) |
T220S |
possibly damaging |
Het |
Etnppl |
A |
G |
3: 130,424,320 (GRCm39) |
|
probably benign |
Het |
Far2 |
T |
A |
6: 148,052,156 (GRCm39) |
L145Q |
probably damaging |
Het |
Fdxr |
A |
G |
11: 115,162,086 (GRCm39) |
|
probably null |
Het |
Jmy |
A |
G |
13: 93,609,268 (GRCm39) |
V347A |
probably damaging |
Het |
Kcns2 |
A |
G |
15: 34,838,981 (GRCm39) |
I115V |
probably benign |
Het |
Kif2a |
A |
G |
13: 107,100,863 (GRCm39) |
L627S |
possibly damaging |
Het |
Krtap26-1 |
A |
G |
16: 88,444,367 (GRCm39) |
S85P |
possibly damaging |
Het |
Ldlr |
C |
A |
9: 21,644,977 (GRCm39) |
D168E |
probably damaging |
Het |
Mmp8 |
A |
G |
9: 7,560,506 (GRCm39) |
E61G |
probably damaging |
Het |
Msh2 |
T |
C |
17: 87,985,785 (GRCm39) |
F121L |
probably benign |
Het |
Myh4 |
A |
G |
11: 67,140,066 (GRCm39) |
K638E |
possibly damaging |
Het |
Ndufaf6 |
A |
G |
4: 11,059,091 (GRCm39) |
F246S |
probably benign |
Het |
Nynrin |
C |
T |
14: 56,108,931 (GRCm39) |
A1346V |
possibly damaging |
Het |
Or8k53 |
A |
C |
2: 86,177,686 (GRCm39) |
C141W |
probably damaging |
Het |
P2rx1 |
C |
T |
11: 72,900,474 (GRCm39) |
P196L |
probably damaging |
Het |
Pbx3 |
T |
C |
2: 34,260,830 (GRCm39) |
|
probably benign |
Het |
Psen2 |
A |
T |
1: 180,073,232 (GRCm39) |
S30T |
probably benign |
Het |
Rack1 |
T |
C |
11: 48,694,298 (GRCm39) |
V166A |
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,358,511 (GRCm39) |
T206A |
probably benign |
Het |
Rrp7a |
A |
G |
15: 83,002,379 (GRCm39) |
|
probably benign |
Het |
Slco1b2 |
C |
T |
6: 141,616,798 (GRCm39) |
T377I |
probably benign |
Het |
Spmip11 |
G |
A |
15: 98,469,006 (GRCm39) |
|
probably null |
Het |
Sult2a6 |
A |
T |
7: 13,970,611 (GRCm39) |
S162T |
possibly damaging |
Het |
Syt2 |
A |
G |
1: 134,669,703 (GRCm39) |
K115E |
probably benign |
Het |
Tet1 |
A |
G |
10: 62,714,425 (GRCm39) |
S457P |
probably damaging |
Het |
Trbv3 |
A |
G |
6: 41,025,599 (GRCm39) |
E63G |
possibly damaging |
Het |
Unc13d |
T |
C |
11: 115,961,145 (GRCm39) |
Y404C |
probably damaging |
Het |
Usp32 |
G |
A |
11: 84,900,837 (GRCm39) |
R1128* |
probably null |
Het |
Vps4a |
G |
A |
8: 107,763,383 (GRCm39) |
|
probably benign |
Het |
Ythdc2 |
T |
A |
18: 44,980,921 (GRCm39) |
H505Q |
probably damaging |
Het |
Ywhab |
T |
A |
2: 163,858,057 (GRCm39) |
L208Q |
probably damaging |
Het |
Zfyve16 |
T |
C |
13: 92,641,022 (GRCm39) |
K1241E |
probably benign |
Het |
|
Other mutations in Lrrc8e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00229:Lrrc8e
|
APN |
8 |
4,285,921 (GRCm39) |
missense |
probably benign |
|
IGL00943:Lrrc8e
|
APN |
8 |
4,285,658 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00979:Lrrc8e
|
APN |
8 |
4,285,080 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01138:Lrrc8e
|
APN |
8 |
4,284,084 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01458:Lrrc8e
|
APN |
8 |
4,286,141 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02831:Lrrc8e
|
APN |
8 |
4,285,429 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03135:Lrrc8e
|
APN |
8 |
4,285,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R0242:Lrrc8e
|
UTSW |
8 |
4,285,401 (GRCm39) |
missense |
probably benign |
0.00 |
R0242:Lrrc8e
|
UTSW |
8 |
4,285,401 (GRCm39) |
missense |
probably benign |
0.00 |
R0312:Lrrc8e
|
UTSW |
8 |
4,285,733 (GRCm39) |
missense |
probably benign |
|
R0601:Lrrc8e
|
UTSW |
8 |
4,285,239 (GRCm39) |
splice site |
probably null |
|
R1167:Lrrc8e
|
UTSW |
8 |
4,285,337 (GRCm39) |
missense |
probably benign |
|
R1405:Lrrc8e
|
UTSW |
8 |
4,281,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R1405:Lrrc8e
|
UTSW |
8 |
4,281,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R1540:Lrrc8e
|
UTSW |
8 |
4,284,990 (GRCm39) |
missense |
probably benign |
0.41 |
R1677:Lrrc8e
|
UTSW |
8 |
4,284,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R1916:Lrrc8e
|
UTSW |
8 |
4,285,202 (GRCm39) |
missense |
probably benign |
0.01 |
R2185:Lrrc8e
|
UTSW |
8 |
4,284,986 (GRCm39) |
nonsense |
probably null |
|
R2290:Lrrc8e
|
UTSW |
8 |
4,281,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R3424:Lrrc8e
|
UTSW |
8 |
4,284,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R4628:Lrrc8e
|
UTSW |
8 |
4,283,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R4996:Lrrc8e
|
UTSW |
8 |
4,285,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R5169:Lrrc8e
|
UTSW |
8 |
4,284,329 (GRCm39) |
missense |
probably benign |
|
R5516:Lrrc8e
|
UTSW |
8 |
4,285,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R5870:Lrrc8e
|
UTSW |
8 |
4,285,725 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6687:Lrrc8e
|
UTSW |
8 |
4,284,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R6700:Lrrc8e
|
UTSW |
8 |
4,286,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R7344:Lrrc8e
|
UTSW |
8 |
4,284,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R7350:Lrrc8e
|
UTSW |
8 |
4,285,626 (GRCm39) |
missense |
probably benign |
0.14 |
R7555:Lrrc8e
|
UTSW |
8 |
4,284,363 (GRCm39) |
missense |
probably benign |
0.05 |
R7691:Lrrc8e
|
UTSW |
8 |
4,284,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R8112:Lrrc8e
|
UTSW |
8 |
4,285,575 (GRCm39) |
missense |
probably benign |
0.14 |
R8184:Lrrc8e
|
UTSW |
8 |
4,285,140 (GRCm39) |
missense |
probably damaging |
0.99 |
R8328:Lrrc8e
|
UTSW |
8 |
4,285,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R8355:Lrrc8e
|
UTSW |
8 |
4,284,018 (GRCm39) |
missense |
probably benign |
0.02 |
R8487:Lrrc8e
|
UTSW |
8 |
4,284,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R8810:Lrrc8e
|
UTSW |
8 |
4,285,070 (GRCm39) |
missense |
probably benign |
0.03 |
R8971:Lrrc8e
|
UTSW |
8 |
4,284,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R9088:Lrrc8e
|
UTSW |
8 |
4,284,410 (GRCm39) |
missense |
probably damaging |
0.96 |
R9150:Lrrc8e
|
UTSW |
8 |
4,286,030 (GRCm39) |
missense |
probably benign |
0.06 |
R9225:Lrrc8e
|
UTSW |
8 |
4,284,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R9255:Lrrc8e
|
UTSW |
8 |
4,284,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R9442:Lrrc8e
|
UTSW |
8 |
4,283,964 (GRCm39) |
missense |
probably benign |
0.01 |
R9463:Lrrc8e
|
UTSW |
8 |
4,285,185 (GRCm39) |
missense |
probably damaging |
0.99 |
R9475:Lrrc8e
|
UTSW |
8 |
4,285,346 (GRCm39) |
missense |
probably benign |
|
Z1176:Lrrc8e
|
UTSW |
8 |
4,284,822 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Posted On |
2015-04-16 |