Incidental Mutation 'IGL00229:Lrrc8e'
ID |
2321 |
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 # |
IGL00229
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
4276827-4287470 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 4285921 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 715
(D715E)
|
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 benign
Transcript: ENSMUST00000053035
AA Change: D715E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000052055 Gene: ENSMUSG00000046589 AA Change: D715E
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,964,603 (GRCm39) |
T929A |
probably damaging |
Het |
Adam6b |
G |
A |
12: 113,455,013 (GRCm39) |
R610H |
probably damaging |
Het |
Adamts12 |
T |
A |
15: 11,311,685 (GRCm39) |
M1314K |
probably benign |
Het |
Alg6 |
T |
A |
4: 99,641,291 (GRCm39) |
F152I |
probably damaging |
Het |
Aopep |
A |
G |
13: 63,347,314 (GRCm39) |
|
probably benign |
Het |
Arid5b |
A |
G |
10: 67,964,805 (GRCm39) |
S289P |
probably damaging |
Het |
Axin1 |
T |
C |
17: 26,413,046 (GRCm39) |
F780L |
probably damaging |
Het |
C9 |
C |
T |
15: 6,512,712 (GRCm39) |
S278L |
possibly damaging |
Het |
Calr4 |
A |
T |
4: 109,101,312 (GRCm39) |
I65F |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,359,327 (GRCm39) |
V260A |
probably benign |
Het |
Ddx25 |
T |
C |
9: 35,454,891 (GRCm39) |
|
probably benign |
Het |
Dppa4 |
A |
G |
16: 48,111,446 (GRCm39) |
T92A |
possibly damaging |
Het |
Ercc5 |
T |
C |
1: 44,203,058 (GRCm39) |
Y232H |
probably damaging |
Het |
Exoc4 |
A |
G |
6: 33,895,334 (GRCm39) |
|
probably null |
Het |
Fam149a |
A |
G |
8: 45,804,823 (GRCm39) |
V253A |
probably damaging |
Het |
Fam209 |
C |
T |
2: 172,316,102 (GRCm39) |
T159I |
probably damaging |
Het |
Gcfc2 |
A |
T |
6: 81,912,996 (GRCm39) |
N265I |
probably damaging |
Het |
Glud1 |
T |
C |
14: 34,058,087 (GRCm39) |
V366A |
probably benign |
Het |
Hdac10 |
T |
C |
15: 89,012,645 (GRCm39) |
T3A |
probably damaging |
Het |
Ifnar1 |
T |
C |
16: 91,286,670 (GRCm39) |
S54P |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,045,683 (GRCm39) |
Y2561C |
probably damaging |
Het |
Klhl30 |
A |
G |
1: 91,281,879 (GRCm39) |
E160G |
possibly damaging |
Het |
Kmt2d |
A |
T |
15: 98,760,214 (GRCm39) |
S1015T |
unknown |
Het |
Lactb2 |
A |
G |
1: 13,730,598 (GRCm39) |
M26T |
probably damaging |
Het |
Lactbl1 |
A |
T |
4: 136,358,362 (GRCm39) |
D111V |
probably damaging |
Het |
Lig4 |
T |
C |
8: 10,022,775 (GRCm39) |
Y335C |
probably damaging |
Het |
Med6 |
A |
T |
12: 81,626,348 (GRCm39) |
V142D |
possibly damaging |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mettl13 |
A |
G |
1: 162,363,434 (GRCm39) |
V600A |
possibly damaging |
Het |
Mpdz |
A |
T |
4: 81,228,461 (GRCm39) |
C1314* |
probably null |
Het |
Nbeal2 |
A |
G |
9: 110,464,937 (GRCm39) |
V1009A |
probably damaging |
Het |
Nmur2 |
A |
G |
11: 55,931,603 (GRCm39) |
L36P |
probably damaging |
Het |
Nudt2 |
T |
A |
4: 41,480,474 (GRCm39) |
L119Q |
probably damaging |
Het |
Or5b117 |
T |
C |
19: 13,431,204 (GRCm39) |
M226V |
possibly damaging |
Het |
Osbpl3 |
C |
T |
6: 50,300,048 (GRCm39) |
E519K |
probably damaging |
Het |
Pak6 |
A |
T |
2: 118,520,326 (GRCm39) |
T106S |
possibly damaging |
Het |
Pggt1b |
T |
G |
18: 46,413,786 (GRCm39) |
Q34P |
probably benign |
Het |
Phactr4 |
T |
C |
4: 132,098,303 (GRCm39) |
T322A |
possibly damaging |
Het |
Plekhj1 |
T |
C |
10: 80,632,436 (GRCm39) |
|
probably null |
Het |
Pnpt1 |
T |
C |
11: 29,104,217 (GRCm39) |
|
probably null |
Het |
Pramel32 |
A |
G |
4: 88,547,290 (GRCm39) |
I214T |
probably damaging |
Het |
Prr14l |
T |
C |
5: 32,988,020 (GRCm39) |
I492V |
probably benign |
Het |
Ranbp2 |
C |
A |
10: 58,313,078 (GRCm39) |
A1266E |
probably damaging |
Het |
Riok3 |
G |
A |
18: 12,270,077 (GRCm39) |
D140N |
probably damaging |
Het |
Rsph4a |
G |
A |
10: 33,790,339 (GRCm39) |
E643K |
probably damaging |
Het |
Scara3 |
T |
G |
14: 66,170,570 (GRCm39) |
E103A |
probably benign |
Het |
Sgk3 |
T |
C |
1: 9,938,609 (GRCm39) |
V33A |
probably damaging |
Het |
Slc38a4 |
A |
G |
15: 96,897,375 (GRCm39) |
F480S |
probably damaging |
Het |
Slc44a1 |
G |
A |
4: 53,543,571 (GRCm39) |
V372M |
probably damaging |
Het |
Slc9a2 |
A |
G |
1: 40,806,897 (GRCm39) |
Y728C |
probably benign |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Spidr |
A |
T |
16: 15,713,442 (GRCm39) |
L847Q |
probably damaging |
Het |
Sptb |
A |
G |
12: 76,667,527 (GRCm39) |
S857P |
probably benign |
Het |
Syde1 |
A |
G |
10: 78,421,643 (GRCm39) |
V636A |
probably damaging |
Het |
Syna |
A |
G |
5: 134,588,571 (GRCm39) |
L126P |
possibly damaging |
Het |
Taar2 |
A |
G |
10: 23,817,266 (GRCm39) |
T269A |
possibly damaging |
Het |
Tapbp |
C |
T |
17: 34,144,678 (GRCm39) |
T258I |
probably damaging |
Het |
Tcf20 |
T |
A |
15: 82,741,343 (GRCm39) |
Q36L |
possibly damaging |
Het |
Tmem131l |
A |
T |
3: 83,849,807 (GRCm39) |
M260K |
probably damaging |
Het |
Tnc |
T |
A |
4: 63,935,061 (GRCm39) |
|
probably benign |
Het |
Ugp2 |
T |
A |
11: 21,304,345 (GRCm39) |
E27D |
probably benign |
Het |
Vps35l |
T |
A |
7: 118,403,414 (GRCm39) |
|
probably benign |
Het |
Wdr27 |
A |
T |
17: 15,148,572 (GRCm39) |
C140* |
probably null |
Het |
Wnt2b |
T |
C |
3: 104,860,449 (GRCm39) |
T153A |
possibly damaging |
Het |
Xirp2 |
A |
T |
2: 67,343,719 (GRCm39) |
T1987S |
probably benign |
Het |
Zfp36l1 |
C |
A |
12: 80,157,238 (GRCm39) |
G48C |
probably damaging |
Het |
Zfp474 |
A |
T |
18: 52,771,565 (GRCm39) |
I73F |
possibly damaging |
Het |
Zfp790 |
T |
A |
7: 29,527,988 (GRCm39) |
F224L |
probably benign |
Het |
|
Other mutations in Lrrc8e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02524:Lrrc8e
|
APN |
8 |
4,285,392 (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 |
2011-12-09 |