Incidental Mutation 'IGL03398:Elapor1'
| ID |
421325 |
| 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: 0.122)
|
| Stock # |
IGL03398
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108363010-108443852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108368537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 818
(V818D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048012]
[ENSMUST00000106625]
[ENSMUST00000106626]
[ENSMUST00000185128]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048012
AA Change: V766D
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040128
Gene: ENSMUSG00000040412
AA Change: V766D
| 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 |
possibly damaging
Transcript: ENSMUST00000106625
AA Change: V868D
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102236
Gene: ENSMUSG00000040412
AA Change: V868D
| 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 |
possibly damaging
Transcript: ENSMUST00000106626
AA Change: V818D
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102237
Gene: ENSMUSG00000040412
AA Change: V818D
| 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: ENSMUST00000140357
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185128
|
| SMART Domains |
Protein: ENSMUSP00000138870
Gene: ENSMUSG00000040412
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
31 |
N/A |
INTRINSIC |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
A |
5: 77,039,566 (GRCm39) |
I248L |
probably benign |
Het |
| Ackr2 |
C |
T |
9: 121,737,654 (GRCm39) |
L10F |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,789,890 (GRCm39) |
|
probably benign |
Het |
| Arhgap5 |
A |
G |
12: 52,564,094 (GRCm39) |
E355G |
probably damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,889,522 (GRCm39) |
V1031A |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,914,527 (GRCm39) |
V1719E |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,461,539 (GRCm39) |
N1284D |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,779,164 (GRCm39) |
D549G |
probably benign |
Het |
| Dhx32 |
A |
G |
7: 133,361,254 (GRCm39) |
Y60H |
probably damaging |
Het |
| Fcamr |
A |
G |
1: 130,730,985 (GRCm39) |
I79M |
probably damaging |
Het |
| Filip1 |
A |
G |
9: 79,726,225 (GRCm39) |
V798A |
probably benign |
Het |
| Ifi208 |
A |
C |
1: 173,510,817 (GRCm39) |
N324T |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nsl1 |
T |
C |
1: 190,814,361 (GRCm39) |
|
probably benign |
Het |
| Parp6 |
T |
C |
9: 59,548,336 (GRCm39) |
I483T |
probably damaging |
Het |
| Ppp2r5e |
A |
C |
12: 75,509,179 (GRCm39) |
W367G |
possibly damaging |
Het |
| Pramel31 |
A |
G |
4: 144,090,061 (GRCm39) |
D367G |
probably damaging |
Het |
| Serpini2 |
G |
A |
3: 75,166,852 (GRCm39) |
T135I |
probably benign |
Het |
| Sgsm1 |
T |
A |
5: 113,403,182 (GRCm39) |
N955I |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 35,915,370 (GRCm39) |
Y2055H |
probably damaging |
Het |
| Tex2 |
T |
C |
11: 106,459,098 (GRCm39) |
N111D |
probably damaging |
Het |
| Ttc5 |
T |
C |
14: 51,018,964 (GRCm39) |
E51G |
possibly damaging |
Het |
| Usp47 |
A |
T |
7: 111,673,710 (GRCm39) |
E334V |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,769,247 (GRCm39) |
K2227E |
probably benign |
Het |
| Xkr4 |
T |
C |
1: 3,286,798 (GRCm39) |
E464G |
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 |
|
IGL03088:Elapor1
|
APN |
3 |
108,443,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03345:Elapor1
|
APN |
3 |
108,399,332 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
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