Incidental Mutation 'IGL02863:Elapor2'
| ID |
362251 |
| 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 # |
IGL02863
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
9316118-9531825 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 9511399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 920
(C920*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069538]
[ENSMUST00000115348]
[ENSMUST00000134991]
[ENSMUST00000152095]
[ENSMUST00000154662]
[ENSMUST00000155764]
|
| AlphaFold |
Q3UZV7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069538
AA Change: C920*
|
| SMART Domains |
Protein: ENSMUSP00000069165
Gene: ENSMUSG00000056004
AA Change: C920*
| 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 null
Transcript: ENSMUST00000134991
AA Change: C920*
|
| SMART Domains |
Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
AA Change: C920*
| 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 |
|---|
| Abcb11 |
T |
A |
2: 69,115,026 (GRCm39) |
H640L |
probably damaging |
Het |
| Akr1c19 |
T |
A |
13: 4,287,112 (GRCm39) |
Y110* |
probably null |
Het |
| Alk |
T |
A |
17: 72,204,830 (GRCm39) |
E1114V |
probably damaging |
Het |
| Anln |
A |
T |
9: 22,287,661 (GRCm39) |
D213E |
probably damaging |
Het |
| Ano9 |
T |
C |
7: 140,688,564 (GRCm39) |
N164S |
probably benign |
Het |
| Arhgef9 |
G |
A |
X: 94,121,110 (GRCm39) |
R266C |
probably damaging |
Het |
| Armh3 |
T |
A |
19: 45,946,850 (GRCm39) |
N256Y |
probably damaging |
Het |
| Arnt2 |
C |
T |
7: 83,917,145 (GRCm39) |
R483H |
probably damaging |
Het |
| Asxl3 |
A |
T |
18: 22,656,541 (GRCm39) |
N1517I |
probably benign |
Het |
| Baiap3 |
C |
T |
17: 25,463,476 (GRCm39) |
|
probably benign |
Het |
| Capn12 |
T |
A |
7: 28,582,581 (GRCm39) |
V152E |
probably damaging |
Het |
| Casq2 |
A |
G |
3: 102,051,491 (GRCm39) |
T324A |
possibly damaging |
Het |
| Cmtm7 |
T |
C |
9: 114,592,457 (GRCm39) |
T47A |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,415,677 (GRCm39) |
S2669G |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 31,017,250 (GRCm39) |
R1520H |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,988,671 (GRCm39) |
C3214R |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,145,176 (GRCm39) |
C2688S |
possibly damaging |
Het |
| Fgf13 |
A |
G |
X: 58,109,029 (GRCm39) |
V201A |
probably damaging |
Het |
| Ghr |
A |
T |
15: 3,357,584 (GRCm39) |
L228* |
probably null |
Het |
| Gpr22 |
A |
G |
12: 31,760,006 (GRCm39) |
C39R |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,131,534 (GRCm39) |
T274A |
possibly damaging |
Het |
| Il18r1 |
T |
A |
1: 40,526,167 (GRCm39) |
L238M |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Map3k21 |
A |
T |
8: 126,654,280 (GRCm39) |
E366D |
probably benign |
Het |
| Mgat4e |
C |
T |
1: 134,468,896 (GRCm39) |
E383K |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,224,446 (GRCm39) |
|
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,223,367 (GRCm39) |
L229Q |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,368,953 (GRCm39) |
L571Q |
probably damaging |
Het |
| Ncoa1 |
T |
A |
12: 4,347,513 (GRCm39) |
M354L |
probably benign |
Het |
| Nomo1 |
T |
C |
7: 45,696,340 (GRCm39) |
F286S |
probably damaging |
Het |
| Ocstamp |
A |
G |
2: 165,239,428 (GRCm39) |
F253L |
probably damaging |
Het |
| Or10ak9 |
T |
G |
4: 118,726,083 (GRCm39) |
I34S |
possibly damaging |
Het |
| Or8j3c |
A |
G |
2: 86,253,457 (GRCm39) |
S188P |
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,120,286 (GRCm39) |
|
probably benign |
Het |
| Parp4 |
T |
C |
14: 56,886,243 (GRCm39) |
L1774P |
unknown |
Het |
| Paxip1 |
T |
C |
5: 27,964,393 (GRCm39) |
S729G |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,304,027 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
G |
A |
17: 24,788,726 (GRCm39) |
G828D |
possibly damaging |
Het |
| Ppp4r3c2 |
C |
T |
X: 88,796,429 (GRCm39) |
P87L |
possibly damaging |
Het |
| Raver1 |
A |
G |
9: 20,987,267 (GRCm39) |
L670P |
probably damaging |
Het |
| Rhd |
A |
G |
4: 134,612,621 (GRCm39) |
I291V |
probably damaging |
Het |
| Rorb |
C |
T |
19: 18,929,617 (GRCm39) |
E377K |
probably benign |
Het |
| Slc1a5 |
T |
C |
7: 16,527,646 (GRCm39) |
I314T |
probably benign |
Het |
| Synj1 |
T |
C |
16: 90,758,322 (GRCm39) |
T841A |
possibly damaging |
Het |
| Tenm4 |
T |
A |
7: 96,522,913 (GRCm39) |
L1448H |
probably damaging |
Het |
| Tmc3 |
G |
T |
7: 83,271,494 (GRCm39) |
S882I |
probably benign |
Het |
| Tmc3 |
A |
T |
7: 83,271,493 (GRCm39) |
S882C |
possibly damaging |
Het |
| Tmem168 |
T |
C |
6: 13,582,917 (GRCm39) |
N271D |
probably damaging |
Het |
| Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
| Usp13 |
A |
G |
3: 32,973,096 (GRCm39) |
I759V |
possibly damaging |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vmn2r115 |
G |
T |
17: 23,578,257 (GRCm39) |
V577F |
probably 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 |
|
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 |
2015-12-18 |
Incidental Mutation