Incidental Mutation 'R9463:Lrrc8e'
ID |
715003 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc8e
|
Ensembl Gene |
ENSMUSG00000046589 |
Gene Name |
leucine rich repeat containing 8 family, member E |
Synonyms |
1810049O03Rik, C87354 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R9463 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
4276827-4287470 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 4285185 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 470
(P470L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052055
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003027]
[ENSMUST00000053035]
[ENSMUST00000062686]
[ENSMUST00000110994]
[ENSMUST00000110995]
[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: P470L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000052055 Gene: ENSMUSG00000046589 AA Change: P470L
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: 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox2 |
C |
T |
14: 8,256,789 (GRCm38) |
E25K |
probably damaging |
Het |
Acss2 |
A |
G |
2: 155,392,032 (GRCm39) |
Y218C |
probably benign |
Het |
Armc8 |
C |
T |
9: 99,378,203 (GRCm39) |
|
probably null |
Het |
Aspg |
G |
A |
12: 112,089,824 (GRCm39) |
G454D |
probably damaging |
Het |
Atp9b |
T |
C |
18: 80,809,051 (GRCm39) |
T623A |
|
Het |
Cacna1e |
A |
G |
1: 154,357,411 (GRCm39) |
L655P |
probably damaging |
Het |
Cant1 |
T |
A |
11: 118,302,281 (GRCm39) |
N12I |
probably damaging |
Het |
Cep63 |
T |
C |
9: 102,475,382 (GRCm39) |
T445A |
probably benign |
Het |
Clstn1 |
A |
T |
4: 149,698,564 (GRCm39) |
D50V |
possibly damaging |
Het |
Cnnm2 |
T |
A |
19: 46,750,990 (GRCm39) |
I260N |
probably damaging |
Het |
Col4a4 |
T |
C |
1: 82,431,076 (GRCm39) |
M1609V |
unknown |
Het |
Dand5 |
A |
T |
8: 85,542,938 (GRCm39) |
C179* |
probably null |
Het |
Dbndd1 |
A |
G |
8: 124,233,547 (GRCm39) |
L153P |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,306,454 (GRCm39) |
I437V |
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,344,223 (GRCm39) |
S1856T |
probably benign |
Het |
Dpp8 |
T |
A |
9: 64,973,700 (GRCm39) |
Y641* |
probably null |
Het |
Dthd1 |
G |
A |
5: 63,039,626 (GRCm39) |
R676H |
probably benign |
Het |
Efl1 |
C |
T |
7: 82,426,733 (GRCm39) |
T1077M |
probably damaging |
Het |
Eif3e |
G |
T |
15: 43,138,709 (GRCm39) |
Q83K |
probably benign |
Het |
Firrm |
A |
T |
1: 163,795,907 (GRCm39) |
M428K |
probably benign |
Het |
Gfm2 |
G |
A |
13: 97,286,910 (GRCm39) |
A170T |
probably damaging |
Het |
Gm14496 |
T |
A |
2: 181,642,256 (GRCm39) |
H642Q |
probably benign |
Het |
Gmip |
G |
A |
8: 70,269,693 (GRCm39) |
R596Q |
possibly damaging |
Het |
Hook1 |
A |
T |
4: 95,910,510 (GRCm39) |
Q708L |
probably damaging |
Het |
Krtap9-3 |
G |
A |
11: 99,488,526 (GRCm39) |
R119C |
unknown |
Het |
Lnpk |
A |
C |
2: 74,381,403 (GRCm39) |
|
probably null |
Het |
Lrp1 |
G |
T |
10: 127,429,334 (GRCm39) |
Y484* |
probably null |
Het |
Mapre1 |
A |
G |
2: 153,606,960 (GRCm39) |
N231D |
probably benign |
Het |
Muc5b |
T |
A |
7: 141,405,503 (GRCm39) |
N937K |
unknown |
Het |
Ndufaf7 |
T |
C |
17: 79,253,900 (GRCm39) |
|
probably null |
Het |
Nlrp5 |
A |
T |
7: 23,118,225 (GRCm39) |
I650F |
probably benign |
Het |
Notch1 |
T |
C |
2: 26,359,845 (GRCm39) |
D1290G |
probably benign |
Het |
Or7g27 |
C |
T |
9: 19,250,320 (GRCm39) |
A188V |
possibly damaging |
Het |
Or8b46 |
T |
C |
9: 38,450,665 (GRCm39) |
I158T |
probably damaging |
Het |
Orc4 |
C |
T |
2: 48,826,783 (GRCm39) |
|
probably null |
Het |
Plekhm2 |
A |
G |
4: 141,357,949 (GRCm39) |
V664A |
probably benign |
Het |
Pom121l2 |
T |
G |
13: 22,168,402 (GRCm39) |
I891S |
probably benign |
Het |
Prkcsh |
T |
C |
9: 21,923,982 (GRCm39) |
Y425H |
probably damaging |
Het |
Prps1l1 |
A |
C |
12: 35,035,559 (GRCm39) |
T225P |
probably damaging |
Het |
Prr18 |
T |
G |
17: 8,560,324 (GRCm39) |
V160G |
probably damaging |
Het |
Psd2 |
T |
A |
18: 36,143,798 (GRCm39) |
F701L |
probably damaging |
Het |
Sclt1 |
T |
C |
3: 41,601,931 (GRCm39) |
E593G |
probably damaging |
Het |
Sdk1 |
T |
C |
5: 141,948,548 (GRCm39) |
I631T |
probably benign |
Het |
Sirt1 |
A |
T |
10: 63,171,487 (GRCm39) |
D231E |
probably benign |
Het |
Slc22a30 |
C |
T |
19: 8,378,259 (GRCm39) |
C139Y |
probably damaging |
Het |
Sntg1 |
T |
A |
1: 8,624,974 (GRCm39) |
N274I |
probably damaging |
Het |
Spocd1 |
A |
G |
4: 129,847,398 (GRCm39) |
Q529R |
|
Het |
Trarg1 |
T |
A |
11: 76,571,098 (GRCm39) |
L38Q |
probably damaging |
Het |
Trbv3 |
T |
A |
6: 41,025,530 (GRCm39) |
L40H |
probably damaging |
Het |
Trpm6 |
T |
C |
19: 18,761,264 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,578,519 (GRCm39) |
Y24125H |
probably damaging |
Het |
Ush1g |
C |
A |
11: 115,209,056 (GRCm39) |
L379F |
probably damaging |
Het |
Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
Vmn2r73 |
A |
T |
7: 85,506,795 (GRCm39) |
M839K |
|
Het |
Wee1 |
T |
C |
7: 109,721,917 (GRCm39) |
S121P |
probably damaging |
Het |
Zfp608 |
T |
C |
18: 55,030,274 (GRCm39) |
K1222R |
probably damaging |
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 |
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 |
R9475:Lrrc8e
|
UTSW |
8 |
4,285,346 (GRCm39) |
missense |
probably benign |
|
Z1176:Lrrc8e
|
UTSW |
8 |
4,284,822 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGACACCTGAGAAGCTGAG -3'
(R):5'- CGTAGAGACAGTACCTTGAGCTG -3'
Sequencing Primer
(F):5'- CTGCAGCGTAACATGCGTG -3'
(R):5'- GAGACAGTACCTTGAGCTGTTTAAG -3'
|
Posted On |
2022-06-15 |