Incidental Mutation 'IGL00909:Elapor2'
ID |
27396 |
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 # |
IGL00909
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
9316118-9531825 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 9430282 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 64
(D64V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120849
(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: D64V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069165 Gene: ENSMUSG00000056004 AA Change: D64V
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 |
noncoding transcript
Transcript: ENSMUST00000104703
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115348
AA Change: D64V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111005 Gene: ENSMUSG00000056004 AA Change: D64V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131626
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134991
AA Change: D64V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121757 Gene: ENSMUSG00000056004 AA Change: D64V
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 damaging
Transcript: ENSMUST00000154662
AA Change: D64V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116026 Gene: ENSMUSG00000056004 AA Change: D64V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155764
AA Change: D64V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120849 Gene: ENSMUSG00000056004 AA Change: D64V
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429L15Rik |
T |
A |
9: 46,220,250 (GRCm39) |
D94V |
possibly damaging |
Het |
Adamts20 |
T |
C |
15: 94,277,694 (GRCm39) |
Y256C |
probably damaging |
Het |
Ajm1 |
A |
G |
2: 25,469,419 (GRCm39) |
L164P |
probably damaging |
Het |
Ampd1 |
A |
C |
3: 102,995,744 (GRCm39) |
D218A |
probably benign |
Het |
Arcn1 |
T |
C |
9: 44,662,651 (GRCm39) |
N332D |
probably damaging |
Het |
Arpp21 |
T |
A |
9: 112,005,191 (GRCm39) |
I219F |
probably damaging |
Het |
Bicra |
A |
T |
7: 15,730,502 (GRCm39) |
D5E |
possibly damaging |
Het |
Birc2 |
A |
C |
9: 7,833,666 (GRCm39) |
W272G |
probably damaging |
Het |
Cd2ap |
A |
T |
17: 43,141,005 (GRCm39) |
|
probably benign |
Het |
Celsr1 |
G |
A |
15: 85,806,436 (GRCm39) |
R974W |
probably damaging |
Het |
Col4a2 |
A |
C |
8: 11,498,167 (GRCm39) |
T1659P |
possibly damaging |
Het |
Coq9 |
C |
T |
8: 95,578,530 (GRCm39) |
L215F |
possibly damaging |
Het |
Cped1 |
A |
G |
6: 22,122,426 (GRCm39) |
|
probably benign |
Het |
Gga3 |
T |
A |
11: 115,482,567 (GRCm39) |
R105W |
probably damaging |
Het |
Hmcn1 |
C |
T |
1: 150,514,620 (GRCm39) |
R3584Q |
probably benign |
Het |
Hs6st3 |
T |
A |
14: 119,376,446 (GRCm39) |
L207Q |
probably damaging |
Het |
Ift43 |
A |
G |
12: 86,208,807 (GRCm39) |
E141G |
probably damaging |
Het |
Mrps31 |
T |
G |
8: 22,917,841 (GRCm39) |
F287V |
probably damaging |
Het |
Naca |
A |
G |
10: 127,877,551 (GRCm39) |
|
probably benign |
Het |
Nrf1 |
C |
T |
6: 30,098,477 (GRCm39) |
T135M |
probably damaging |
Het |
Or5p81 |
A |
G |
7: 108,266,907 (GRCm39) |
I95V |
possibly damaging |
Het |
Pfas |
A |
T |
11: 68,894,640 (GRCm39) |
Y8* |
probably null |
Het |
Ppip5k1 |
G |
A |
2: 121,177,839 (GRCm39) |
R323W |
probably damaging |
Het |
Rasal1 |
A |
G |
5: 120,802,872 (GRCm39) |
E376G |
probably damaging |
Het |
Rfc1 |
A |
G |
5: 65,437,042 (GRCm39) |
L546P |
probably benign |
Het |
Rheb |
A |
T |
5: 25,012,073 (GRCm39) |
I129N |
probably damaging |
Het |
Scpep1 |
A |
T |
11: 88,843,303 (GRCm39) |
F52I |
probably damaging |
Het |
Six2 |
A |
T |
17: 85,995,319 (GRCm39) |
L21Q |
probably damaging |
Het |
Slit1 |
G |
T |
19: 41,590,694 (GRCm39) |
T1326K |
possibly damaging |
Het |
Spata2l |
T |
C |
8: 123,960,716 (GRCm39) |
D191G |
possibly damaging |
Het |
Susd4 |
C |
A |
1: 182,719,552 (GRCm39) |
A389D |
probably damaging |
Het |
Tcaf2 |
A |
T |
6: 42,601,510 (GRCm39) |
F850I |
probably damaging |
Het |
Teddm1b |
T |
C |
1: 153,750,391 (GRCm39) |
S67P |
probably damaging |
Het |
Tiparp |
T |
A |
3: 65,439,530 (GRCm39) |
V100D |
probably damaging |
Het |
Zdhhc14 |
A |
G |
17: 5,803,067 (GRCm39) |
H390R |
probably benign |
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 |
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 |
|
IGL02939:Elapor2
|
APN |
5 |
9,511,478 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-04-17 |