Incidental Mutation 'IGL02939:Elapor2'
| ID |
365956 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Elapor2
|
| Ensembl Gene |
ENSMUSG00000056004 |
| Gene Name |
endosome-lysosome associated apoptosis and autophagy regulator family member 2 |
| Synonyms |
9330182L06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02939
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
9316118-9531825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9511478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 947
(Y947H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069538]
[ENSMUST00000115348]
[ENSMUST00000134991]
[ENSMUST00000152095]
[ENSMUST00000154662]
[ENSMUST00000155764]
|
| AlphaFold |
Q3UZV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069538
AA Change: Y947H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069165
Gene: ENSMUSG00000056004
AA Change: Y947H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
58 |
334 |
1.12e-7 |
PROSPERO |
|
internal_repeat_1
|
343 |
665 |
1.12e-7 |
PROSPERO |
|
transmembrane domain
|
926 |
948 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115348
|
| SMART Domains |
Protein: ENSMUSP00000111005
Gene: ENSMUSG00000056004
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134991
AA Change: Y947H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
AA Change: Y947H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
58 |
334 |
9.82e-8 |
PROSPERO |
|
internal_repeat_1
|
343 |
665 |
9.82e-8 |
PROSPERO |
|
transmembrane domain
|
926 |
948 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152095
|
| SMART Domains |
Protein: ENSMUSP00000116440
Gene: ENSMUSG00000056004
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154662
|
| SMART Domains |
Protein: ENSMUSP00000116026
Gene: ENSMUSG00000056004
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155764
|
| SMART Domains |
Protein: ENSMUSP00000120849
Gene: ENSMUSG00000056004
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
58 |
180 |
5.47e-6 |
PROSPERO |
|
internal_repeat_1
|
343 |
476 |
5.47e-6 |
PROSPERO |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6ap1 |
A |
G |
X: 73,340,924 (GRCm39) |
D47G |
probably benign |
Het |
| Atr |
T |
C |
9: 95,747,314 (GRCm39) |
F199L |
probably benign |
Het |
| Bivm |
C |
A |
1: 44,182,120 (GRCm39) |
H443N |
probably benign |
Het |
| Btnl2 |
A |
T |
17: 34,580,043 (GRCm39) |
H192L |
probably benign |
Het |
| Ccdc178 |
A |
T |
18: 22,253,775 (GRCm39) |
C155S |
probably benign |
Het |
| Celsr1 |
C |
A |
15: 85,785,673 (GRCm39) |
V2934L |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,726,652 (GRCm39) |
S3294P |
probably damaging |
Het |
| Ddx10 |
T |
A |
9: 53,115,579 (GRCm39) |
E585V |
possibly damaging |
Het |
| Eps15l1 |
A |
T |
8: 73,138,606 (GRCm39) |
|
probably benign |
Het |
| Erlin1 |
G |
T |
19: 44,051,491 (GRCm39) |
T70K |
probably damaging |
Het |
| Ext2 |
A |
T |
2: 93,534,964 (GRCm39) |
|
probably null |
Het |
| Fam124a |
G |
A |
14: 62,793,368 (GRCm39) |
|
probably null |
Het |
| Fam53a |
T |
C |
5: 33,765,103 (GRCm39) |
D201G |
probably damaging |
Het |
| Fgf14 |
C |
T |
14: 124,369,891 (GRCm39) |
G136D |
possibly damaging |
Het |
| Gdi2 |
A |
T |
13: 3,614,623 (GRCm39) |
T323S |
probably benign |
Het |
| Gemin5 |
A |
T |
11: 58,047,556 (GRCm39) |
N339K |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,364,522 (GRCm39) |
E286G |
probably benign |
Het |
| Golga4 |
A |
C |
9: 118,363,700 (GRCm39) |
K233T |
probably damaging |
Het |
| Gosr1 |
A |
G |
11: 76,641,732 (GRCm39) |
|
probably benign |
Het |
| Haus8 |
A |
G |
8: 71,708,361 (GRCm39) |
|
probably benign |
Het |
| Itgb3bp |
T |
C |
4: 99,690,373 (GRCm39) |
T49A |
probably null |
Het |
| Ldlrad4 |
A |
G |
18: 68,387,585 (GRCm39) |
D299G |
probably damaging |
Het |
| Lpo |
A |
G |
11: 87,706,004 (GRCm39) |
M273T |
possibly damaging |
Het |
| Map3k4 |
T |
A |
17: 12,491,036 (GRCm39) |
S132C |
probably damaging |
Het |
| Mycbp2 |
T |
G |
14: 103,414,715 (GRCm39) |
T2566P |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,536,284 (GRCm39) |
E1255G |
probably null |
Het |
| Nop56 |
A |
T |
2: 130,120,117 (GRCm39) |
K157N |
probably damaging |
Het |
| Or10g9 |
C |
T |
9: 39,912,194 (GRCm39) |
E110K |
probably benign |
Het |
| Or6c1 |
A |
T |
10: 129,517,857 (GRCm39) |
Y250* |
probably null |
Het |
| Pcdh15 |
A |
G |
10: 74,340,648 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,172,074 (GRCm39) |
H557R |
probably damaging |
Het |
| Plekha4 |
C |
T |
7: 45,181,787 (GRCm39) |
Q64* |
probably null |
Het |
| Ppp2r3c |
G |
A |
12: 55,345,192 (GRCm39) |
|
probably benign |
Het |
| Rgmb |
C |
T |
17: 16,027,755 (GRCm39) |
M321I |
probably benign |
Het |
| Rnf31 |
T |
C |
14: 55,833,131 (GRCm39) |
S363P |
probably benign |
Het |
| Sap18b |
T |
A |
8: 96,552,329 (GRCm39) |
M113K |
probably benign |
Het |
| Scara3 |
T |
A |
14: 66,169,105 (GRCm39) |
M171L |
probably benign |
Het |
| Slc9a2 |
T |
G |
1: 40,781,863 (GRCm39) |
M364R |
probably damaging |
Het |
| Sorcs1 |
C |
T |
19: 50,666,368 (GRCm39) |
W180* |
probably null |
Het |
| Stat6 |
T |
A |
10: 127,482,809 (GRCm39) |
M10K |
probably benign |
Het |
| Sun1 |
T |
C |
5: 139,221,243 (GRCm39) |
|
probably benign |
Het |
| Tead2 |
T |
C |
7: 44,869,858 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
T |
G |
7: 64,964,638 (GRCm39) |
E844D |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,206,411 (GRCm39) |
S295P |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,612,756 (GRCm39) |
R17108C |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,711,664 (GRCm39) |
|
probably null |
Het |
| Vmn2r108 |
T |
A |
17: 20,691,545 (GRCm39) |
H326L |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,250,840 (GRCm39) |
|
probably null |
Het |
| Zfp385b |
A |
G |
2: 77,242,403 (GRCm39) |
S439P |
probably benign |
Het |
| Zfp597 |
G |
A |
16: 3,683,805 (GRCm39) |
S317L |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,946,214 (GRCm39) |
D1081G |
probably damaging |
Het |
| Zfp93 |
C |
T |
7: 23,974,509 (GRCm39) |
H165Y |
possibly damaging |
Het |
|
| Other mutations in Elapor2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Elapor2
|
APN |
5 |
9,472,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00909:Elapor2
|
APN |
5 |
9,430,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01477:Elapor2
|
APN |
5 |
9,487,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02486:Elapor2
|
APN |
5 |
9,472,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02863:Elapor2
|
APN |
5 |
9,511,399 (GRCm39) |
nonsense |
probably null |
|
|
IGL03039:Elapor2
|
APN |
5 |
9,468,055 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03395:Elapor2
|
APN |
5 |
9,472,359 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0063:Elapor2
|
UTSW |
5 |
9,490,709 (GRCm39) |
intron |
probably benign |
|
|
R0063:Elapor2
|
UTSW |
5 |
9,490,709 (GRCm39) |
intron |
probably benign |
|
|
R0193:Elapor2
|
UTSW |
5 |
9,472,359 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0265:Elapor2
|
UTSW |
5 |
9,484,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Elapor2
|
UTSW |
5 |
9,495,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0432:Elapor2
|
UTSW |
5 |
9,490,966 (GRCm39) |
nonsense |
probably null |
|
|
R0494:Elapor2
|
UTSW |
5 |
9,470,723 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0736:Elapor2
|
UTSW |
5 |
9,491,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0850:Elapor2
|
UTSW |
5 |
9,467,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1398:Elapor2
|
UTSW |
5 |
9,430,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1709:Elapor2
|
UTSW |
5 |
9,490,726 (GRCm39) |
nonsense |
probably null |
|
|
R1720:Elapor2
|
UTSW |
5 |
9,478,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1770:Elapor2
|
UTSW |
5 |
9,468,021 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1782:Elapor2
|
UTSW |
5 |
9,471,620 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1803:Elapor2
|
UTSW |
5 |
9,477,832 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1868:Elapor2
|
UTSW |
5 |
9,529,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1870:Elapor2
|
UTSW |
5 |
9,468,007 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1871:Elapor2
|
UTSW |
5 |
9,468,007 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1913:Elapor2
|
UTSW |
5 |
9,316,275 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2054:Elapor2
|
UTSW |
5 |
9,513,030 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2170:Elapor2
|
UTSW |
5 |
9,529,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2381:Elapor2
|
UTSW |
5 |
9,430,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2396:Elapor2
|
UTSW |
5 |
9,485,395 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4003:Elapor2
|
UTSW |
5 |
9,490,877 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5030:Elapor2
|
UTSW |
5 |
9,478,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5049:Elapor2
|
UTSW |
5 |
9,478,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5069:Elapor2
|
UTSW |
5 |
9,490,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5219:Elapor2
|
UTSW |
5 |
9,511,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5400:Elapor2
|
UTSW |
5 |
9,529,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5555:Elapor2
|
UTSW |
5 |
9,472,296 (GRCm39) |
splice site |
probably null |
|
|
R5593:Elapor2
|
UTSW |
5 |
9,316,350 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5681:Elapor2
|
UTSW |
5 |
9,509,308 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5707:Elapor2
|
UTSW |
5 |
9,491,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5756:Elapor2
|
UTSW |
5 |
9,512,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6087:Elapor2
|
UTSW |
5 |
9,449,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6252:Elapor2
|
UTSW |
5 |
9,460,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7067:Elapor2
|
UTSW |
5 |
9,316,295 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7078:Elapor2
|
UTSW |
5 |
9,460,709 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7079:Elapor2
|
UTSW |
5 |
9,449,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Elapor2
|
UTSW |
5 |
9,495,384 (GRCm39) |
nonsense |
probably null |
|
|
R7265:Elapor2
|
UTSW |
5 |
9,496,975 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7996:Elapor2
|
UTSW |
5 |
9,512,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8199:Elapor2
|
UTSW |
5 |
9,470,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8246:Elapor2
|
UTSW |
5 |
9,496,966 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8928:Elapor2
|
UTSW |
5 |
9,496,979 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8935:Elapor2
|
UTSW |
5 |
9,491,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8963:Elapor2
|
UTSW |
5 |
9,487,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9140:Elapor2
|
UTSW |
5 |
9,449,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9244:Elapor2
|
UTSW |
5 |
9,460,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9272:Elapor2
|
UTSW |
5 |
9,460,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9395:Elapor2
|
UTSW |
5 |
9,477,822 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9548:Elapor2
|
UTSW |
5 |
9,490,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Elapor2
|
UTSW |
5 |
9,449,231 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0052:Elapor2
|
UTSW |
5 |
9,490,908 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0063:Elapor2
|
UTSW |
5 |
9,449,239 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation