Incidental Mutation 'R5040:Elapor1'
| ID |
393156 |
| 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 |
042630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R5040 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108363010-108443852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108382317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 284
(D284V)
|
| 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 damaging
Transcript: ENSMUST00000048012
AA Change: D232V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040128
Gene: ENSMUSG00000040412
AA Change: D232V
| 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: D334V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102236
Gene: ENSMUSG00000040412
AA Change: D334V
| 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: D284V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102237
Gene: ENSMUSG00000040412
AA Change: D284V
| 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: ENSMUST00000148493
|
| 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 |
|
| Meta Mutation Damage Score |
0.3357 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
| Validation Efficiency |
98% (63/64) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,669,578 (GRCm39) |
Q159R |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,555,228 (GRCm39) |
I446V |
possibly damaging |
Het |
| Areg |
A |
T |
5: 91,292,198 (GRCm39) |
H166L |
possibly damaging |
Het |
| Arhgap15 |
T |
C |
2: 43,734,825 (GRCm39) |
|
probably null |
Het |
| Arhgef17 |
T |
C |
7: 100,526,032 (GRCm39) |
D874G |
probably benign |
Het |
| Cast |
T |
C |
13: 74,872,932 (GRCm39) |
T452A |
probably damaging |
Het |
| Ccdc154 |
A |
T |
17: 25,383,566 (GRCm39) |
T208S |
probably benign |
Het |
| Chst11 |
T |
A |
10: 83,026,780 (GRCm39) |
L69Q |
probably benign |
Het |
| Clec2d |
G |
A |
6: 129,161,793 (GRCm39) |
R142K |
probably damaging |
Het |
| Dis3l2 |
A |
T |
1: 86,785,059 (GRCm39) |
I303F |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 6,992,625 (GRCm39) |
Y3979H |
probably benign |
Het |
| Ehmt1 |
A |
T |
2: 24,774,316 (GRCm39) |
C162S |
probably benign |
Het |
| Eif4g3 |
G |
T |
4: 137,824,200 (GRCm39) |
M239I |
probably damaging |
Het |
| Eif5 |
A |
G |
12: 111,506,284 (GRCm39) |
D41G |
probably damaging |
Het |
| Fat1 |
C |
T |
8: 45,476,417 (GRCm39) |
A1821V |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,312,319 (GRCm39) |
A745T |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,765,771 (GRCm39) |
L491P |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,863,326 (GRCm39) |
L396P |
probably damaging |
Het |
| Gyg1 |
A |
G |
3: 20,176,823 (GRCm39) |
|
probably benign |
Het |
| Hhip |
C |
A |
8: 80,724,235 (GRCm39) |
V336L |
probably benign |
Het |
| Hipk2 |
G |
A |
6: 38,707,816 (GRCm39) |
P660S |
possibly damaging |
Het |
| Hnrnpul1 |
G |
A |
7: 25,442,414 (GRCm39) |
T276I |
possibly damaging |
Het |
| Ifnl2 |
G |
T |
7: 28,208,511 (GRCm39) |
R147S |
possibly damaging |
Het |
| Ilvbl |
A |
G |
10: 78,419,152 (GRCm39) |
D467G |
probably damaging |
Het |
| Kcnh1 |
A |
T |
1: 192,187,783 (GRCm39) |
H748L |
probably benign |
Het |
| Lyg1 |
A |
C |
1: 37,989,892 (GRCm39) |
|
probably benign |
Het |
| Mak |
A |
G |
13: 41,183,574 (GRCm39) |
Y544H |
possibly damaging |
Het |
| Med1 |
A |
G |
11: 98,046,230 (GRCm39) |
|
probably benign |
Het |
| Mogat2 |
T |
C |
7: 98,887,724 (GRCm39) |
T17A |
possibly damaging |
Het |
| Myom3 |
T |
C |
4: 135,516,970 (GRCm39) |
S847P |
probably damaging |
Het |
| Nprl2 |
T |
G |
9: 107,419,599 (GRCm39) |
C9G |
probably null |
Het |
| Or5b125-ps1 |
T |
A |
19: 13,056,307 (GRCm39) |
|
noncoding transcript |
Het |
| Pcmtd1 |
T |
C |
1: 7,190,599 (GRCm39) |
Y23H |
probably damaging |
Het |
| Pkd1 |
C |
A |
17: 24,790,234 (GRCm39) |
H972Q |
probably benign |
Het |
| Rbm26 |
A |
G |
14: 105,358,452 (GRCm39) |
I929T |
probably benign |
Het |
| Scrn2 |
A |
G |
11: 96,921,709 (GRCm39) |
T60A |
probably damaging |
Het |
| Setdb2 |
A |
T |
14: 59,653,156 (GRCm39) |
I398N |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,029,350 (GRCm39) |
E206G |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,859,915 (GRCm39) |
|
probably null |
Het |
| Sh3bp4 |
C |
T |
1: 89,071,962 (GRCm39) |
S270L |
probably damaging |
Het |
| Stac3 |
T |
C |
10: 127,343,993 (GRCm39) |
I297T |
probably damaging |
Het |
| Styxl2 |
G |
A |
1: 165,927,914 (GRCm39) |
T566I |
probably benign |
Het |
| Supv3l1 |
A |
T |
10: 62,282,844 (GRCm39) |
V139E |
possibly damaging |
Het |
| Syce1 |
A |
T |
7: 140,358,978 (GRCm39) |
H178Q |
probably damaging |
Het |
| Tamalin |
G |
A |
15: 101,126,923 (GRCm39) |
V134I |
probably damaging |
Het |
| Tcp10c |
T |
A |
17: 13,588,453 (GRCm39) |
M344K |
possibly damaging |
Het |
| Tcstv7a |
C |
T |
13: 120,290,025 (GRCm39) |
W57* |
probably null |
Het |
| Tmc1 |
A |
G |
19: 20,801,394 (GRCm39) |
V502A |
possibly damaging |
Het |
| Tmco4 |
G |
T |
4: 138,747,477 (GRCm39) |
G242V |
probably damaging |
Het |
| Trp53bp2 |
G |
A |
1: 182,272,271 (GRCm39) |
R460H |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,528,746 (GRCm39) |
C1328S |
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,364,875 (GRCm39) |
D12G |
probably damaging |
Het |
| Zfp457 |
C |
T |
13: 67,440,899 (GRCm39) |
A463T |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTCTGGGATTGAGCAAAC -3'
(R):5'- AACACCTTCTGGAAGTTTGTGTG -3'
Sequencing Primer
(F):5'- ACAGTTCTGGGTGACACAC -3'
(R):5'- CTTCTGGAAGTTTGTGTGGTGACAC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation