Incidental Mutation 'R7542:Elapor1'
| ID |
583931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elapor1
|
| Ensembl Gene |
ENSMUSG00000040412 |
| Gene Name |
endosome-lysosome associated apoptosis and autophagy regulator 1 |
| Synonyms |
5330417C22Rik, Iir, Inceptor |
| MMRRC Submission |
045614-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R7542 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
108363010-108443852 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to T
at 108365543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138870
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048012]
[ENSMUST00000106625]
[ENSMUST00000106626]
[ENSMUST00000185128]
|
| AlphaFold |
no structure available at present |
| 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 benign
Transcript: ENSMUST00000106625
|
| SMART Domains |
Protein: ENSMUSP00000102236
Gene: ENSMUSG00000040412
| 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 |
unknown
Transcript: ENSMUST00000106626
AA Change: V922D
|
| SMART Domains |
Protein: ENSMUSP00000102237
Gene: ENSMUSG00000040412
AA Change: V922D
| 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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
T |
8: 41,133,848 (GRCm39) |
T439S |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,732 (GRCm39) |
S1552T |
|
Het |
| Akap6 |
A |
G |
12: 53,116,017 (GRCm39) |
E1040G |
probably damaging |
Het |
| Alms1 |
A |
T |
6: 85,606,344 (GRCm39) |
T2196S |
possibly damaging |
Het |
| Alox12e |
T |
C |
11: 70,212,582 (GRCm39) |
Q89R |
possibly damaging |
Het |
| AW551984 |
T |
A |
9: 39,505,927 (GRCm39) |
E423D |
possibly damaging |
Het |
| Ccpg1 |
T |
A |
9: 72,919,741 (GRCm39) |
V452D |
probably damaging |
Het |
| Cdk5r1 |
T |
C |
11: 80,369,190 (GRCm39) |
F286L |
probably damaging |
Het |
| Cgref1 |
A |
T |
5: 31,090,937 (GRCm39) |
N292K |
probably damaging |
Het |
| Clgn |
A |
T |
8: 84,122,174 (GRCm39) |
S32C |
possibly damaging |
Het |
| Csk |
C |
A |
9: 57,536,283 (GRCm39) |
|
probably null |
Het |
| Dchs2 |
A |
G |
3: 83,176,591 (GRCm39) |
T850A |
probably benign |
Het |
| Defb2 |
T |
C |
8: 22,333,360 (GRCm39) |
V45A |
probably benign |
Het |
| Disp2 |
A |
G |
2: 118,621,599 (GRCm39) |
Q777R |
probably damaging |
Het |
| Dll1 |
C |
T |
17: 15,590,609 (GRCm39) |
C369Y |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,823,658 (GRCm39) |
I3766V |
probably benign |
Het |
| Fam53a |
A |
G |
5: 33,764,815 (GRCm39) |
M297T |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,035,504 (GRCm39) |
D3052G |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,035,770 (GRCm39) |
I3141F |
possibly damaging |
Het |
| Fbxw10 |
T |
C |
11: 62,741,422 (GRCm39) |
V180A |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,560,000 (GRCm39) |
D1502E |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,815,196 (GRCm39) |
N3643I |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,043,207 (GRCm39) |
S335P |
probably damaging |
Het |
| Glb1l3 |
C |
A |
9: 26,729,491 (GRCm39) |
A659S |
possibly damaging |
Het |
| Gm8011 |
A |
T |
14: 42,288,741 (GRCm39) |
R175* |
probably null |
Het |
| Gna15 |
A |
G |
10: 81,350,136 (GRCm39) |
S89P |
probably damaging |
Het |
| Grm2 |
A |
T |
9: 106,528,368 (GRCm39) |
L172Q |
probably damaging |
Het |
| Iqcn |
A |
G |
8: 71,161,415 (GRCm39) |
T203A |
possibly damaging |
Het |
| Kcnc3 |
A |
G |
7: 44,245,138 (GRCm39) |
D476G |
possibly damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,905,387 (GRCm39) |
T216A |
possibly damaging |
Het |
| Kdm2a |
G |
A |
19: 4,383,858 (GRCm39) |
|
probably benign |
Het |
| Lrrc9 |
T |
C |
12: 72,553,094 (GRCm39) |
I1332T |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,529,007 (GRCm39) |
C317R |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,272,354 (GRCm39) |
V707A |
probably benign |
Het |
| Mcph1 |
C |
T |
8: 18,681,705 (GRCm39) |
R281C |
probably benign |
Het |
| Med25 |
A |
T |
7: 44,541,215 (GRCm39) |
D99E |
probably damaging |
Het |
| Megf10 |
C |
A |
18: 57,322,642 (GRCm39) |
D62E |
probably benign |
Het |
| Minar1 |
T |
A |
9: 89,483,964 (GRCm39) |
T478S |
probably damaging |
Het |
| Myod1 |
A |
T |
7: 46,026,097 (GRCm39) |
M1L |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,659,394 (GRCm39) |
M741K |
possibly damaging |
Het |
| Odf2l |
A |
C |
3: 144,859,197 (GRCm39) |
K618T |
probably damaging |
Het |
| Or4c107 |
A |
T |
2: 88,789,119 (GRCm39) |
E103V |
probably benign |
Het |
| Pcdha2 |
G |
A |
18: 37,073,142 (GRCm39) |
G258R |
probably damaging |
Het |
| Pcdha3 |
G |
A |
18: 37,080,784 (GRCm39) |
A509T |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,673,971 (GRCm39) |
V315A |
possibly damaging |
Het |
| Prim1 |
T |
C |
10: 127,853,903 (GRCm39) |
V107A |
probably damaging |
Het |
| Pxdc1 |
A |
G |
13: 34,822,146 (GRCm39) |
|
probably null |
Het |
| Rab7b |
C |
T |
1: 131,639,379 (GRCm39) |
H182Y |
probably benign |
Het |
| Reln |
C |
A |
5: 22,160,179 (GRCm39) |
G2130V |
probably damaging |
Het |
| Retreg1 |
T |
A |
15: 25,941,296 (GRCm39) |
M1K |
probably null |
Het |
| Rras |
G |
A |
7: 44,669,766 (GRCm39) |
R94Q |
probably damaging |
Het |
| Rundc3a |
T |
A |
11: 102,290,871 (GRCm39) |
L318Q |
probably benign |
Het |
| Scgb2b18 |
A |
T |
7: 32,872,747 (GRCm39) |
|
probably null |
Het |
| Setd1b |
A |
T |
5: 123,286,510 (GRCm39) |
M519L |
unknown |
Het |
| Tep1 |
G |
A |
14: 51,099,948 (GRCm39) |
Q426* |
probably null |
Het |
| Tesk1 |
G |
T |
4: 43,445,941 (GRCm39) |
M291I |
probably benign |
Het |
| Tgs1 |
A |
G |
4: 3,595,439 (GRCm39) |
D536G |
probably benign |
Het |
| Thbs1 |
C |
T |
2: 117,951,655 (GRCm39) |
T825M |
probably damaging |
Het |
| Tmem59l |
T |
C |
8: 70,937,814 (GRCm39) |
N189D |
possibly damaging |
Het |
| Trim30c |
A |
T |
7: 104,031,425 (GRCm39) |
D463E |
possibly damaging |
Het |
| Trpc4 |
A |
G |
3: 54,223,075 (GRCm39) |
Y706C |
probably damaging |
Het |
| Ttc13 |
A |
T |
8: 125,401,842 (GRCm39) |
|
probably null |
Het |
| Tulp1 |
T |
C |
17: 28,582,729 (GRCm39) |
K140E |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,755,327 (GRCm39) |
I345V |
probably benign |
Het |
| Vmn2r43 |
T |
C |
7: 8,258,488 (GRCm39) |
M242V |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,817,785 (GRCm39) |
V509A |
probably benign |
Het |
| Zfp202 |
T |
C |
9: 40,122,443 (GRCm39) |
C402R |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAAAGCCTGTATCTGACCAG -3'
(R):5'- CATGGACATGTGAGAGGTGC -3'
Sequencing Primer
(F):5'- TGAAAGCCTGTATCTGACCAGAAAAC -3'
(R):5'- ACATGTGAGAGGTGCCCGTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation