Incidental Mutation 'R6381:Elapor1'
| ID |
515305 |
| 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 |
044530-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R6381 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108363010-108443852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108389130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 222
(K222E)
|
| 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 |
probably benign
Transcript: ENSMUST00000048012
AA Change: K120E
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000040128
Gene: ENSMUSG00000040412
AA Change: K120E
| 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
AA Change: K222E
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102236
Gene: ENSMUSG00000040412
AA Change: K222E
| 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: K222E
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102237
Gene: ENSMUSG00000040412
AA Change: K222E
| 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: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
97% (56/58) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
A |
18: 70,600,788 (GRCm39) |
M365L |
probably damaging |
Het |
| Aars2 |
A |
G |
17: 45,829,471 (GRCm39) |
E786G |
probably benign |
Het |
| Adamts12 |
G |
T |
15: 11,257,080 (GRCm39) |
V478F |
possibly damaging |
Het |
| Akr1c21 |
T |
A |
13: 4,624,183 (GRCm39) |
D12E |
probably damaging |
Het |
| Aplf |
A |
T |
6: 87,635,959 (GRCm39) |
M118K |
probably damaging |
Het |
| Apobec1 |
A |
G |
6: 122,555,890 (GRCm39) |
L189P |
probably damaging |
Het |
| BC061237 |
A |
G |
14: 44,741,713 (GRCm39) |
Q152R |
possibly damaging |
Het |
| Bche |
A |
G |
3: 73,609,132 (GRCm39) |
I98T |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,873,118 (GRCm39) |
R983L |
possibly damaging |
Het |
| Ccnd3 |
T |
C |
17: 47,816,149 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
G |
T |
18: 60,944,435 (GRCm39) |
C215F |
probably damaging |
Het |
| Cep97 |
C |
T |
16: 55,742,534 (GRCm39) |
A138T |
probably damaging |
Het |
| Ces1e |
T |
A |
8: 93,944,206 (GRCm39) |
N204I |
probably damaging |
Het |
| Dicer1 |
T |
C |
12: 104,662,721 (GRCm39) |
D1620G |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,020,011 (GRCm39) |
V12A |
probably benign |
Het |
| Dstyk |
T |
A |
1: 132,384,503 (GRCm39) |
|
probably null |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Entr1 |
A |
G |
2: 26,275,093 (GRCm39) |
|
probably null |
Het |
| Gm10570 |
G |
T |
4: 130,202,021 (GRCm39) |
|
probably benign |
Het |
| Gm7145 |
C |
T |
1: 117,913,669 (GRCm39) |
Q184* |
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gtse1 |
G |
A |
15: 85,746,349 (GRCm39) |
R55H |
probably benign |
Het |
| Hdac4 |
G |
T |
1: 91,912,247 (GRCm39) |
Q381K |
possibly damaging |
Het |
| Ifit3b |
T |
C |
19: 34,589,871 (GRCm39) |
I349T |
probably benign |
Het |
| Inpp5a |
A |
T |
7: 138,980,589 (GRCm39) |
D9V |
probably benign |
Het |
| Irs1 |
T |
C |
1: 82,265,405 (GRCm39) |
N937S |
possibly damaging |
Het |
| Kcna4 |
T |
C |
2: 107,125,317 (GRCm39) |
M17T |
probably benign |
Het |
| Lipa |
T |
A |
19: 34,502,146 (GRCm39) |
M33L |
probably benign |
Het |
| Marchf6 |
G |
T |
15: 31,467,838 (GRCm39) |
Q790K |
probably benign |
Het |
| Mccc1 |
G |
A |
3: 36,030,876 (GRCm39) |
P397S |
probably benign |
Het |
| Mrgprb2 |
T |
C |
7: 48,202,138 (GRCm39) |
I196V |
probably benign |
Het |
| Myh15 |
T |
A |
16: 48,921,844 (GRCm39) |
S463R |
probably damaging |
Het |
| Nab2 |
T |
C |
10: 127,500,220 (GRCm39) |
K291E |
probably damaging |
Het |
| Neto2 |
T |
C |
8: 86,369,138 (GRCm39) |
T294A |
probably damaging |
Het |
| Nkx1-1 |
T |
C |
5: 33,591,320 (GRCm39) |
M1V |
probably null |
Het |
| Or2h2 |
C |
T |
17: 37,396,977 (GRCm39) |
V27I |
probably benign |
Het |
| Pla2g4c |
C |
T |
7: 13,077,933 (GRCm39) |
T357I |
probably benign |
Het |
| Psmd2 |
A |
G |
16: 20,474,023 (GRCm39) |
E242G |
probably benign |
Het |
| Rnase12 |
A |
C |
14: 51,294,551 (GRCm39) |
Y43D |
probably damaging |
Het |
| Rpl18 |
T |
A |
7: 45,369,016 (GRCm39) |
F58I |
probably damaging |
Het |
| Ryr1 |
T |
G |
7: 28,774,682 (GRCm39) |
M2313L |
possibly damaging |
Het |
| Scn4a |
G |
T |
11: 106,211,137 (GRCm39) |
Q1627K |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,366,722 (GRCm39) |
S640G |
probably benign |
Het |
| Sdr9c7 |
T |
A |
10: 127,739,542 (GRCm39) |
M219K |
probably benign |
Het |
| Soat1 |
A |
T |
1: 156,263,373 (GRCm39) |
M392K |
probably damaging |
Het |
| Spata18 |
G |
T |
5: 73,832,559 (GRCm39) |
K337N |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,417,003 (GRCm39) |
V325A |
probably benign |
Het |
| Syt2 |
A |
G |
1: 134,674,588 (GRCm39) |
E342G |
probably damaging |
Het |
| Tars2 |
A |
T |
3: 95,661,799 (GRCm39) |
L37* |
probably null |
Het |
| Tep1 |
T |
C |
14: 51,082,888 (GRCm39) |
D1040G |
probably damaging |
Het |
| Tmc8 |
A |
T |
11: 117,682,426 (GRCm39) |
S613C |
probably null |
Het |
| Top3a |
C |
T |
11: 60,634,849 (GRCm39) |
C660Y |
probably damaging |
Het |
| Tpsg1 |
C |
T |
17: 25,591,543 (GRCm39) |
R48C |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,078,242 (GRCm39) |
N72S |
probably benign |
Het |
| Whrn |
G |
A |
4: 63,390,921 (GRCm39) |
T269I |
probably benign |
Het |
| Zfp759 |
T |
A |
13: 67,286,969 (GRCm39) |
Y173* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGGGATGAAGTCATAGGG -3'
(R):5'- CATGCTCAGCCATGATTGTG -3'
Sequencing Primer
(F):5'- ATGAAGTCATAGGGGCAAACTAGCC -3'
(R):5'- CTCAGCCATGATTGTGTGCAGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation