Incidental Mutation 'R9475:Lrrc8e'
ID |
715707 |
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: 0.106)
|
Stock # |
R9475 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
4276827-4287470 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 4285346 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 524
(G524S)
|
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 benign
Transcript: ENSMUST00000053035
AA Change: G524S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000052055 Gene: ENSMUSG00000046589 AA Change: G524S
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: 98.5%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
T |
7: 45,665,892 (GRCm39) |
W243R |
probably damaging |
Het |
Ablim1 |
T |
G |
19: 57,227,612 (GRCm39) |
K18Q |
probably benign |
Het |
Adamts18 |
T |
A |
8: 114,504,570 (GRCm39) |
N174Y |
possibly damaging |
Het |
Afg2a |
T |
C |
3: 37,486,058 (GRCm39) |
V260A |
probably benign |
Het |
Agbl2 |
A |
G |
2: 90,614,437 (GRCm39) |
H23R |
probably benign |
Het |
Akap6 |
T |
G |
12: 53,057,335 (GRCm39) |
Y934D |
probably damaging |
Het |
Alas1 |
C |
T |
9: 106,111,261 (GRCm39) |
S635N |
probably benign |
Het |
Ankrd24 |
A |
G |
10: 81,478,133 (GRCm39) |
|
probably null |
Het |
Atp6v0a4 |
A |
G |
6: 38,037,917 (GRCm39) |
L560P |
probably damaging |
Het |
Cacng1 |
C |
T |
11: 107,607,118 (GRCm39) |
V34M |
possibly damaging |
Het |
Clcn3 |
C |
T |
8: 61,387,551 (GRCm39) |
A233T |
probably damaging |
Het |
Cntnap3 |
A |
G |
13: 64,946,949 (GRCm39) |
F160S |
probably damaging |
Het |
Ctnnd2 |
A |
G |
15: 30,881,276 (GRCm39) |
S719G |
probably damaging |
Het |
Exosc2 |
G |
A |
2: 31,564,755 (GRCm39) |
V107I |
probably benign |
Het |
Fam83b |
C |
A |
9: 76,399,085 (GRCm39) |
V673F |
probably benign |
Het |
Fras1 |
T |
C |
5: 96,927,929 (GRCm39) |
F3781L |
probably damaging |
Het |
Gal3st1 |
T |
A |
11: 3,948,660 (GRCm39) |
L289H |
probably damaging |
Het |
Garem1 |
T |
C |
18: 21,281,370 (GRCm39) |
I329V |
probably benign |
Het |
Gli3 |
G |
A |
13: 15,900,296 (GRCm39) |
G1228S |
possibly damaging |
Het |
Gpbp1l1 |
T |
C |
4: 116,431,558 (GRCm39) |
F72S |
possibly damaging |
Het |
Hao1 |
T |
A |
2: 134,390,181 (GRCm39) |
M53L |
probably benign |
Het |
Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
Iqcm |
A |
G |
8: 76,480,083 (GRCm39) |
E347G |
probably damaging |
Het |
Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
Kcnrg |
A |
G |
14: 61,845,106 (GRCm39) |
I49V |
possibly damaging |
Het |
Lrrn1 |
A |
T |
6: 107,545,261 (GRCm39) |
Y353F |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,739,849 (GRCm39) |
D3701G |
possibly damaging |
Het |
Mtmr2 |
A |
G |
9: 13,716,767 (GRCm39) |
T623A |
probably benign |
Het |
Ndst4 |
C |
A |
3: 125,508,296 (GRCm39) |
S287* |
probably null |
Het |
Ntrk3 |
A |
C |
7: 77,952,480 (GRCm39) |
M579R |
probably benign |
Het |
Oas1a |
G |
A |
5: 121,037,317 (GRCm39) |
L237F |
probably damaging |
Het |
Or2aj4 |
T |
C |
16: 19,385,270 (GRCm39) |
D121G |
probably benign |
Het |
Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Het |
Or7e166 |
T |
C |
9: 19,624,939 (GRCm39) |
M272T |
probably benign |
Het |
Paqr5 |
T |
A |
9: 61,863,507 (GRCm39) |
I272F |
probably damaging |
Het |
Pcdha11 |
T |
A |
18: 37,140,591 (GRCm39) |
V740E |
probably damaging |
Het |
Pdgfra |
A |
C |
5: 75,328,588 (GRCm39) |
N240T |
possibly damaging |
Het |
Plbd2 |
G |
A |
5: 120,632,445 (GRCm39) |
Q186* |
probably null |
Het |
Plce1 |
G |
A |
19: 38,766,337 (GRCm39) |
E2121K |
possibly damaging |
Het |
Ppargc1a |
C |
A |
5: 51,653,080 (GRCm39) |
G161C |
probably damaging |
Het |
Ptprk |
T |
C |
10: 28,210,476 (GRCm39) |
I166T |
possibly damaging |
Het |
Rhox8 |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
X: 36,966,991 (GRCm39) |
|
probably benign |
Het |
Rpap2 |
T |
A |
5: 107,768,455 (GRCm39) |
L431Q |
probably damaging |
Het |
Rslcan18 |
T |
A |
13: 67,250,128 (GRCm39) |
K160* |
probably null |
Het |
Sema7a |
T |
C |
9: 57,862,188 (GRCm39) |
F180L |
probably benign |
Het |
Sh2d3c |
C |
T |
2: 32,643,039 (GRCm39) |
L741F |
probably damaging |
Het |
Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
Skic2 |
A |
T |
17: 35,060,078 (GRCm39) |
D897E |
probably benign |
Het |
Skint6 |
C |
T |
4: 112,664,037 (GRCm39) |
|
probably null |
Het |
Slc35f3 |
T |
C |
8: 127,108,993 (GRCm39) |
S181P |
probably damaging |
Het |
Slc4a9 |
A |
T |
18: 36,662,269 (GRCm39) |
E127V |
probably null |
Het |
Speg |
C |
T |
1: 75,364,735 (GRCm39) |
T372I |
probably damaging |
Het |
Syce1l |
A |
G |
8: 114,381,735 (GRCm39) |
T204A |
probably benign |
Het |
Tas2r138 |
T |
A |
6: 40,589,392 (GRCm39) |
M285L |
probably benign |
Het |
Tbc1d10a |
G |
C |
11: 4,163,604 (GRCm39) |
K285N |
probably damaging |
Het |
Trim9 |
T |
A |
12: 70,393,228 (GRCm39) |
M239L |
probably benign |
Het |
Trp53bp1 |
A |
G |
2: 121,039,761 (GRCm39) |
S1293P |
probably benign |
Het |
Uaca |
C |
T |
9: 60,779,498 (GRCm39) |
T1295M |
possibly damaging |
Het |
Ubald1 |
G |
T |
16: 4,693,433 (GRCm39) |
Q161K |
possibly damaging |
Het |
Ugt1a10 |
C |
T |
1: 88,143,982 (GRCm39) |
R201C |
probably damaging |
Het |
Vps45 |
T |
G |
3: 95,950,237 (GRCm39) |
T231P |
probably damaging |
Het |
Wdr17 |
A |
T |
8: 55,088,512 (GRCm39) |
D1186E |
probably benign |
Het |
Zfp534 |
G |
A |
4: 147,766,731 (GRCm39) |
T8I |
probably benign |
Het |
Zfp68 |
T |
C |
5: 138,605,517 (GRCm39) |
N269D |
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 |
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 |
Z1176:Lrrc8e
|
UTSW |
8 |
4,284,822 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCTTCACTCACCAGCCAG -3'
(R):5'- CAGGCTGAAGATTGCATGGG -3'
Sequencing Primer
(F):5'- AGGCTGCCCTTTTCATCACAG -3'
(R):5'- CGTAACACTGCCAGCTTCTTGAG -3'
|
Posted On |
2022-06-15 |