Incidental Mutation 'IGL00979:Lrrc8e'
| ID |
28085 |
| 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 # |
IGL00979
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
4276827-4287470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4285080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 435
(L435P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003027]
[ENSMUST00000053035]
[ENSMUST00000062686]
[ENSMUST00000110998]
[ENSMUST00000110999]
[ENSMUST00000145165]
[ENSMUST00000207770]
|
| 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: L435P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000052055
Gene: ENSMUSG00000046589
AA Change: L435P
| 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: 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207770
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
T |
4: 123,754,338 (GRCm39) |
K84M |
probably damaging |
Het |
| A4gnt |
T |
A |
9: 99,502,489 (GRCm39) |
Y216* |
probably null |
Het |
| Abcb1b |
A |
G |
5: 8,875,293 (GRCm39) |
|
probably benign |
Het |
| Ankrd50 |
G |
A |
3: 38,506,563 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,381,584 (GRCm39) |
T89A |
probably benign |
Het |
| Ccdc15 |
C |
T |
9: 37,227,786 (GRCm39) |
S236N |
probably benign |
Het |
| Cd34 |
A |
C |
1: 194,631,816 (GRCm39) |
T151P |
possibly damaging |
Het |
| Col28a1 |
A |
T |
6: 8,014,810 (GRCm39) |
V865E |
probably damaging |
Het |
| Csf2rb |
T |
A |
15: 78,232,304 (GRCm39) |
V537E |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,011,777 (GRCm39) |
F553L |
probably damaging |
Het |
| Dolk |
A |
T |
2: 30,174,743 (GRCm39) |
L434Q |
probably damaging |
Het |
| Dsg2 |
C |
A |
18: 20,715,824 (GRCm39) |
D255E |
probably damaging |
Het |
| Endov |
T |
C |
11: 119,391,444 (GRCm39) |
V144A |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 49,232,034 (GRCm39) |
N499D |
probably damaging |
Het |
| Hephl1 |
G |
T |
9: 14,978,341 (GRCm39) |
T855K |
probably benign |
Het |
| Hif1a |
A |
G |
12: 73,988,784 (GRCm39) |
D557G |
probably damaging |
Het |
| Idh1 |
G |
A |
1: 65,210,308 (GRCm39) |
T75I |
probably damaging |
Het |
| Ighv1-37 |
A |
G |
12: 114,860,070 (GRCm39) |
S47P |
probably benign |
Het |
| Irx4 |
A |
G |
13: 73,416,341 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
C |
T |
6: 108,448,081 (GRCm39) |
A1871V |
probably damaging |
Het |
| Klkb1 |
A |
G |
8: 45,747,105 (GRCm39) |
|
probably benign |
Het |
| Megf11 |
T |
A |
9: 64,416,009 (GRCm39) |
Y73N |
probably damaging |
Het |
| Nfe2 |
T |
C |
15: 103,157,607 (GRCm39) |
D128G |
probably damaging |
Het |
| Or13a22 |
A |
G |
7: 140,072,614 (GRCm39) |
E21G |
probably benign |
Het |
| Or4k51 |
T |
A |
2: 111,584,771 (GRCm39) |
M59K |
probably damaging |
Het |
| Pak6 |
C |
A |
2: 118,526,963 (GRCm39) |
L653I |
probably damaging |
Het |
| Pde4dip |
T |
A |
3: 97,655,074 (GRCm39) |
|
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,789,066 (GRCm39) |
V831A |
probably benign |
Het |
| Prc1 |
G |
T |
7: 79,957,444 (GRCm39) |
|
probably null |
Het |
| Ptprs |
C |
T |
17: 56,765,243 (GRCm39) |
G14S |
probably damaging |
Het |
| Pygb |
A |
G |
2: 150,661,833 (GRCm39) |
K520E |
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,883,505 (GRCm39) |
S92P |
probably benign |
Het |
| Samd4b |
A |
T |
7: 28,113,638 (GRCm39) |
L109Q |
probably damaging |
Het |
| Saxo4 |
T |
C |
19: 10,451,863 (GRCm39) |
*428W |
probably null |
Het |
| Scn8a |
A |
T |
15: 100,853,287 (GRCm39) |
|
probably benign |
Het |
| Sdc3 |
A |
G |
4: 130,545,991 (GRCm39) |
I23V |
unknown |
Het |
| Sec61a2 |
A |
G |
2: 5,876,831 (GRCm39) |
Y350H |
possibly damaging |
Het |
| Slc4a3 |
A |
T |
1: 75,530,891 (GRCm39) |
Q759L |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,387,378 (GRCm39) |
P1378L |
probably damaging |
Het |
| Spta1 |
T |
G |
1: 174,035,956 (GRCm39) |
Y1087* |
probably null |
Het |
| Tenm4 |
A |
G |
7: 96,378,598 (GRCm39) |
E401G |
probably damaging |
Het |
| Tom1 |
C |
A |
8: 75,781,331 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,257,577 (GRCm39) |
V1273D |
probably damaging |
Het |
| Vmn2r106 |
G |
T |
17: 20,497,837 (GRCm39) |
D467E |
possibly damaging |
Het |
| Washc4 |
A |
T |
10: 83,386,747 (GRCm39) |
T124S |
probably benign |
Het |
| Zfp790 |
A |
G |
7: 29,529,034 (GRCm39) |
E573G |
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 |
|
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 |
2013-04-17 |
Incidental Mutation