Incidental Mutation 'IGL02831:Lrrc8e'
| ID |
361423 |
| 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: 0.106)
|
| Stock # |
IGL02831
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
4276827-4287470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4285429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 551
(S551R)
|
| 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: S551R
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000052055
Gene: ENSMUSG00000046589
AA Change: S551R
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
T |
11: 109,943,907 (GRCm39) |
V1121M |
probably damaging |
Het |
| Acrbp |
C |
A |
6: 125,038,212 (GRCm39) |
T471N |
possibly damaging |
Het |
| Blnk |
C |
T |
19: 40,950,873 (GRCm39) |
D93N |
probably damaging |
Het |
| Casp7 |
A |
G |
19: 56,392,855 (GRCm39) |
D3G |
probably benign |
Het |
| Coro1c |
A |
T |
5: 113,982,469 (GRCm39) |
C456S |
probably benign |
Het |
| Dlec1 |
T |
G |
9: 118,972,983 (GRCm39) |
L1499R |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,931,250 (GRCm39) |
S1422P |
probably benign |
Het |
| Exd1 |
T |
C |
2: 119,359,235 (GRCm39) |
D216G |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,080 (GRCm38) |
T130A |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,874,395 (GRCm39) |
M1409K |
probably benign |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,678,746 (GRCm39) |
V465A |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,245,896 (GRCm39) |
Q194R |
possibly damaging |
Het |
| Ip6k2 |
C |
T |
9: 108,681,733 (GRCm39) |
|
probably benign |
Het |
| Kctd2 |
T |
A |
11: 115,321,166 (GRCm39) |
*264K |
probably null |
Het |
| Krt34 |
C |
A |
11: 99,930,973 (GRCm39) |
|
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,122,801 (GRCm39) |
S760P |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,083,603 (GRCm39) |
N1702S |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,202,071 (GRCm39) |
V139A |
probably damaging |
Het |
| Mrtfa |
A |
G |
15: 80,988,994 (GRCm39) |
L9P |
probably benign |
Het |
| Napsa |
A |
G |
7: 44,236,184 (GRCm39) |
T408A |
probably benign |
Het |
| Or2h15 |
T |
C |
17: 38,441,403 (GRCm39) |
K227E |
probably benign |
Het |
| Or2w6 |
T |
C |
13: 21,843,074 (GRCm39) |
I140V |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,780,020 (GRCm39) |
|
probably null |
Het |
| Panx1 |
A |
G |
9: 14,918,944 (GRCm39) |
L305P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,364,889 (GRCm39) |
H676R |
probably benign |
Het |
| Pld1 |
T |
A |
3: 28,130,574 (GRCm39) |
V458E |
probably damaging |
Het |
| Ppp5c |
A |
G |
7: 16,742,570 (GRCm39) |
L256P |
probably damaging |
Het |
| Pyroxd2 |
G |
T |
19: 42,724,342 (GRCm39) |
T307K |
probably damaging |
Het |
| Scart1 |
G |
T |
7: 139,808,434 (GRCm39) |
V782L |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,471,190 (GRCm39) |
E379G |
probably damaging |
Het |
| Slc22a23 |
T |
C |
13: 34,483,052 (GRCm39) |
T276A |
possibly damaging |
Het |
| Slc26a3 |
T |
C |
12: 31,502,628 (GRCm39) |
I283T |
probably damaging |
Het |
| Sltm |
A |
G |
9: 70,492,147 (GRCm39) |
D712G |
probably damaging |
Het |
| Slu7 |
C |
T |
11: 43,333,480 (GRCm39) |
Q367* |
probably null |
Het |
| Srbd1 |
T |
C |
17: 86,311,299 (GRCm39) |
N706S |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,408,335 (GRCm39) |
M870K |
possibly damaging |
Het |
| Tnxb |
T |
C |
17: 34,922,545 (GRCm39) |
Y2453H |
possibly damaging |
Het |
| Tomm40 |
A |
G |
7: 19,437,014 (GRCm39) |
Y274H |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,651,770 (GRCm39) |
D404E |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,681,344 (GRCm39) |
M84K |
probably benign |
Het |
| Wdr70 |
A |
G |
15: 7,913,787 (GRCm39) |
Y621H |
possibly damaging |
Het |
| Wfdc8 |
C |
T |
2: 164,447,685 (GRCm39) |
|
probably null |
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 |
|
IGL02524:Lrrc8e
|
APN |
8 |
4,285,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation