Incidental Mutation 'IGL03088:Elapor1'
| ID |
418237 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Elapor1
|
| Ensembl Gene |
ENSMUSG00000040412 |
| Gene Name |
endosome-lysosome associated apoptosis and autophagy regulator 1 |
| Synonyms |
5330417C22Rik, Iir, Inceptor |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
IGL03088
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108363010-108443852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108443674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 31
(W31R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029485]
[ENSMUST00000048012]
[ENSMUST00000106625]
[ENSMUST00000106626]
[ENSMUST00000185128]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029485
|
| SMART Domains |
Protein: ENSMUSP00000029485
Gene: ENSMUSG00000027886
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3695
|
29 |
128 |
1.5e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048012
|
| SMART Domains |
Protein: ENSMUSP00000040128
Gene: ENSMUSG00000040412
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
3 |
212 |
1.11e-6 |
PROSPERO |
|
internal_repeat_1
|
289 |
522 |
1.11e-6 |
PROSPERO |
|
transmembrane domain
|
806 |
828 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106625
AA Change: W31R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102236
Gene: ENSMUSG00000040412
AA Change: W31R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
48 |
310 |
8.31e-11 |
PROSPERO |
|
internal_repeat_1
|
325 |
620 |
8.31e-11 |
PROSPERO |
|
transmembrane domain
|
904 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106626
AA Change: W31R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102237
Gene: ENSMUSG00000040412
AA Change: W31R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
48 |
178 |
2.5e-7 |
PROSPERO |
|
internal_repeat_1
|
275 |
421 |
2.5e-7 |
PROSPERO |
|
transmembrane domain
|
854 |
876 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138210
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148237
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185128
AA Change: W31R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138870
Gene: ENSMUSG00000040412
AA Change: W31R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
31 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195529
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
PHENOTYPE: Male homozygous mice are infertile. Microscopic analysis revealed defective spermatogenesis in the testis, and hypospermia and defective spermatozoa in the epididymides. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
T |
G |
11: 58,184,210 (GRCm39) |
L299R |
unknown |
Het |
| Abca9 |
T |
G |
11: 110,035,087 (GRCm39) |
R693S |
probably benign |
Het |
| Adamts20 |
A |
T |
15: 94,227,795 (GRCm39) |
|
probably null |
Het |
| Afg1l |
T |
A |
10: 42,302,493 (GRCm39) |
D169V |
probably damaging |
Het |
| Agbl1 |
T |
A |
7: 76,369,890 (GRCm39) |
M663K |
probably benign |
Het |
| Angpt2 |
T |
A |
8: 18,791,039 (GRCm39) |
I86F |
probably benign |
Het |
| Ankrd2 |
G |
A |
19: 42,030,424 (GRCm39) |
E160K |
probably null |
Het |
| As3mt |
G |
T |
19: 46,696,233 (GRCm39) |
V14F |
probably damaging |
Het |
| Atp6v0a2 |
T |
C |
5: 124,791,171 (GRCm39) |
|
probably benign |
Het |
| Atp6v0d1 |
T |
A |
8: 106,257,591 (GRCm39) |
I113F |
probably damaging |
Het |
| Bank1 |
A |
G |
3: 135,799,123 (GRCm39) |
I406T |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,801,881 (GRCm39) |
V59A |
possibly damaging |
Het |
| Brsk1 |
A |
G |
7: 4,713,453 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
T |
A |
4: 11,810,473 (GRCm39) |
N721K |
probably damaging |
Het |
| Cercam |
A |
G |
2: 29,771,699 (GRCm39) |
|
probably benign |
Het |
| Clpb |
T |
A |
7: 101,434,656 (GRCm39) |
L484* |
probably null |
Het |
| Creb3l1 |
T |
A |
2: 91,825,739 (GRCm39) |
M127L |
probably benign |
Het |
| Cstdc1 |
A |
T |
2: 148,625,327 (GRCm39) |
H87L |
possibly damaging |
Het |
| Ctla2b |
A |
C |
13: 61,043,874 (GRCm39) |
D122E |
probably damaging |
Het |
| Cyb5rl |
C |
A |
4: 106,938,225 (GRCm39) |
Y12* |
probably null |
Het |
| Dennd5a |
T |
C |
7: 109,507,588 (GRCm39) |
Y800C |
probably damaging |
Het |
| Dmrt3 |
T |
G |
19: 25,600,411 (GRCm39) |
S419A |
probably benign |
Het |
| Fbxo38 |
A |
G |
18: 62,655,543 (GRCm39) |
V381A |
possibly damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,498 (GRCm39) |
H842L |
unknown |
Het |
| Fn1 |
A |
T |
1: 71,653,197 (GRCm39) |
|
probably null |
Het |
| Fos |
A |
C |
12: 85,522,630 (GRCm39) |
T181P |
possibly damaging |
Het |
| Fzd10 |
A |
G |
5: 128,679,669 (GRCm39) |
Y463C |
possibly damaging |
Het |
| Gprc5b |
T |
C |
7: 118,582,856 (GRCm39) |
M338V |
probably benign |
Het |
| Gsta4 |
T |
C |
9: 78,113,345 (GRCm39) |
|
probably benign |
Het |
| Gstm2 |
T |
A |
3: 107,893,362 (GRCm39) |
T34S |
probably benign |
Het |
| Haspin |
C |
T |
11: 73,027,451 (GRCm39) |
R546Q |
probably damaging |
Het |
| Itgad |
G |
A |
7: 127,802,204 (GRCm39) |
R958H |
probably benign |
Het |
| Kansl1l |
A |
T |
1: 66,774,884 (GRCm39) |
H647Q |
probably damaging |
Het |
| Kif5c |
A |
C |
2: 49,634,455 (GRCm39) |
R762S |
probably benign |
Het |
| Klf4 |
C |
A |
4: 55,530,758 (GRCm39) |
A68S |
possibly damaging |
Het |
| Klf4 |
A |
G |
4: 55,530,811 (GRCm39) |
L50P |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,504,802 (GRCm39) |
E3502G |
probably damaging |
Het |
| Krt8 |
A |
G |
15: 101,909,022 (GRCm39) |
I202T |
possibly damaging |
Het |
| Lmcd1 |
A |
T |
6: 112,287,649 (GRCm39) |
T112S |
probably damaging |
Het |
| Lpxn |
T |
C |
19: 12,810,575 (GRCm39) |
C340R |
probably damaging |
Het |
| Man2a2 |
C |
T |
7: 80,009,082 (GRCm39) |
V844M |
possibly damaging |
Het |
| Map10 |
G |
A |
8: 126,397,809 (GRCm39) |
E401K |
probably benign |
Het |
| Mark4 |
A |
T |
7: 19,185,509 (GRCm39) |
L75Q |
probably damaging |
Het |
| Mlf2 |
T |
G |
6: 124,910,945 (GRCm39) |
M81R |
probably damaging |
Het |
| Mup3 |
A |
G |
4: 62,005,079 (GRCm39) |
I67T |
probably damaging |
Het |
| Mycbpap |
T |
C |
11: 94,404,769 (GRCm39) |
|
probably null |
Het |
| Myt1l |
T |
C |
12: 29,970,476 (GRCm39) |
V1185A |
probably benign |
Het |
| Ncoa7 |
C |
T |
10: 30,574,121 (GRCm39) |
|
probably null |
Het |
| Nos1 |
C |
A |
5: 118,005,323 (GRCm39) |
N14K |
probably damaging |
Het |
| Nova2 |
G |
T |
7: 18,684,494 (GRCm39) |
V116F |
unknown |
Het |
| Obox3 |
G |
A |
7: 15,360,927 (GRCm39) |
|
probably benign |
Het |
| Or10h1 |
A |
T |
17: 33,418,534 (GRCm39) |
T171S |
probably benign |
Het |
| Or2t46 |
T |
A |
11: 58,472,653 (GRCm39) |
|
probably benign |
Het |
| Or5v1 |
A |
G |
17: 37,809,539 (GRCm39) |
|
probably benign |
Het |
| Or8b50 |
A |
T |
9: 38,518,597 (GRCm39) |
S279C |
probably damaging |
Het |
| P2rx5 |
T |
A |
11: 73,056,446 (GRCm39) |
|
probably benign |
Het |
| Parvb |
T |
A |
15: 84,193,044 (GRCm39) |
|
probably benign |
Het |
| Popdc2 |
A |
T |
16: 38,194,184 (GRCm39) |
T202S |
probably damaging |
Het |
| Ppm1j |
T |
A |
3: 104,692,725 (GRCm39) |
Y411* |
probably null |
Het |
| Rapgefl1 |
C |
A |
11: 98,740,058 (GRCm39) |
L484M |
probably damaging |
Het |
| Septin14 |
A |
G |
5: 129,774,797 (GRCm39) |
|
probably benign |
Het |
| Slf1 |
A |
G |
13: 77,232,554 (GRCm39) |
C517R |
probably damaging |
Het |
| Smyd3 |
A |
G |
1: 178,921,898 (GRCm39) |
|
probably null |
Het |
| Snx9 |
A |
G |
17: 5,974,885 (GRCm39) |
T458A |
probably benign |
Het |
| Srgap1 |
T |
C |
10: 121,661,598 (GRCm39) |
D514G |
possibly damaging |
Het |
| Tbc1d14 |
A |
G |
5: 36,682,308 (GRCm39) |
S311P |
probably damaging |
Het |
| Timd6 |
C |
A |
11: 46,475,244 (GRCm39) |
F146L |
probably benign |
Het |
| Tmem150c |
T |
G |
5: 100,234,076 (GRCm39) |
K91N |
probably damaging |
Het |
| Traf3 |
T |
A |
12: 111,228,277 (GRCm39) |
M471K |
probably damaging |
Het |
| Tubd1 |
G |
T |
11: 86,443,825 (GRCm39) |
G178C |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,157,262 (GRCm39) |
K847E |
possibly damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,742,301 (GRCm39) |
H225L |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,758,851 (GRCm39) |
|
probably benign |
Het |
| Xpo7 |
T |
G |
14: 70,918,702 (GRCm39) |
S710R |
probably benign |
Het |
| Zfp780b |
C |
T |
7: 27,662,417 (GRCm39) |
V713I |
possibly damaging |
Het |
| Zkscan17 |
A |
T |
11: 59,378,592 (GRCm39) |
I197N |
probably damaging |
Het |
|
| Other mutations in Elapor1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01552:Elapor1
|
APN |
3 |
108,388,628 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02079:Elapor1
|
APN |
3 |
108,388,675 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02268:Elapor1
|
APN |
3 |
108,375,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02869:Elapor1
|
APN |
3 |
108,380,182 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02891:Elapor1
|
APN |
3 |
108,371,708 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03345:Elapor1
|
APN |
3 |
108,399,332 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03398:Elapor1
|
APN |
3 |
108,368,537 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03138:Elapor1
|
UTSW |
3 |
108,379,309 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0325:Elapor1
|
UTSW |
3 |
108,368,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0730:Elapor1
|
UTSW |
3 |
108,376,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0844:Elapor1
|
UTSW |
3 |
108,388,279 (GRCm39) |
splice site |
probably benign |
|
|
R1646:Elapor1
|
UTSW |
3 |
108,370,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1666:Elapor1
|
UTSW |
3 |
108,377,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1726:Elapor1
|
UTSW |
3 |
108,375,184 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2202:Elapor1
|
UTSW |
3 |
108,382,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2203:Elapor1
|
UTSW |
3 |
108,382,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2204:Elapor1
|
UTSW |
3 |
108,382,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2205:Elapor1
|
UTSW |
3 |
108,382,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2249:Elapor1
|
UTSW |
3 |
108,378,726 (GRCm39) |
nonsense |
probably null |
|
|
R2443:Elapor1
|
UTSW |
3 |
108,388,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3965:Elapor1
|
UTSW |
3 |
108,365,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4171:Elapor1
|
UTSW |
3 |
108,368,259 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4785:Elapor1
|
UTSW |
3 |
108,365,543 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4810:Elapor1
|
UTSW |
3 |
108,377,327 (GRCm39) |
splice site |
probably benign |
|
|
R4862:Elapor1
|
UTSW |
3 |
108,375,149 (GRCm39) |
missense |
probably benign |
|
|
R4923:Elapor1
|
UTSW |
3 |
108,379,284 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5040:Elapor1
|
UTSW |
3 |
108,382,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5153:Elapor1
|
UTSW |
3 |
108,380,063 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5405:Elapor1
|
UTSW |
3 |
108,375,102 (GRCm39) |
nonsense |
probably null |
|
|
R5609:Elapor1
|
UTSW |
3 |
108,378,731 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5663:Elapor1
|
UTSW |
3 |
108,399,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6194:Elapor1
|
UTSW |
3 |
108,373,095 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6303:Elapor1
|
UTSW |
3 |
108,368,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6304:Elapor1
|
UTSW |
3 |
108,368,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6381:Elapor1
|
UTSW |
3 |
108,389,130 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6676:Elapor1
|
UTSW |
3 |
108,377,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:Elapor1
|
UTSW |
3 |
108,389,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7221:Elapor1
|
UTSW |
3 |
108,382,317 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7320:Elapor1
|
UTSW |
3 |
108,371,619 (GRCm39) |
nonsense |
probably null |
|
|
R7384:Elapor1
|
UTSW |
3 |
108,370,784 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7542:Elapor1
|
UTSW |
3 |
108,365,543 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7597:Elapor1
|
UTSW |
3 |
108,378,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7674:Elapor1
|
UTSW |
3 |
108,370,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8076:Elapor1
|
UTSW |
3 |
108,399,398 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8426:Elapor1
|
UTSW |
3 |
108,378,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9028:Elapor1
|
UTSW |
3 |
108,370,819 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9255:Elapor1
|
UTSW |
3 |
108,376,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9573:Elapor1
|
UTSW |
3 |
108,373,094 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9659:Elapor1
|
UTSW |
3 |
108,377,297 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9788:Elapor1
|
UTSW |
3 |
108,377,297 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0022:Elapor1
|
UTSW |
3 |
108,367,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Elapor1
|
UTSW |
3 |
108,379,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Elapor1
|
UTSW |
3 |
108,378,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation