Incidental Mutation 'R2204:Elapor1'
ID |
238893 |
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 |
040206-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.122)
|
Stock # |
R2204 (G1)
|
Quality Score |
216 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
108363010-108443852 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 108382359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 270
(G270E)
|
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: G218E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000040128 Gene: ENSMUSG00000040412 AA Change: G218E
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: G320E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102236 Gene: ENSMUSG00000040412 AA Change: G320E
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: G270E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102237 Gene: ENSMUSG00000040412 AA Change: G270E
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630076J17Rik |
A |
G |
3: 107,140,943 (GRCm39) |
|
probably benign |
Het |
Abca1 |
G |
A |
4: 53,090,291 (GRCm39) |
T386I |
probably damaging |
Het |
Acsf3 |
C |
T |
8: 123,540,383 (GRCm39) |
S527F |
probably damaging |
Het |
Adamts7 |
A |
T |
9: 90,062,729 (GRCm39) |
K394N |
probably damaging |
Het |
Ankrd2 |
C |
A |
19: 42,032,558 (GRCm39) |
A273E |
probably damaging |
Het |
Ankrd26 |
T |
A |
6: 118,500,843 (GRCm39) |
H876L |
possibly damaging |
Het |
Atg16l1 |
A |
C |
1: 87,694,737 (GRCm39) |
Q138P |
probably benign |
Het |
Bap1 |
T |
C |
14: 30,978,658 (GRCm39) |
V23A |
probably benign |
Het |
Cartpt |
A |
T |
13: 100,037,133 (GRCm39) |
S4T |
probably benign |
Het |
Cdan1 |
C |
A |
2: 120,551,241 (GRCm39) |
C1093F |
probably damaging |
Het |
Ceacam11 |
C |
T |
7: 17,709,273 (GRCm39) |
T157I |
possibly damaging |
Het |
Cfap45 |
T |
C |
1: 172,359,728 (GRCm39) |
V76A |
probably benign |
Het |
Chil3 |
T |
C |
3: 106,071,562 (GRCm39) |
D34G |
probably benign |
Het |
Chrnb4 |
G |
A |
9: 54,951,132 (GRCm39) |
R44C |
probably damaging |
Het |
Col6a4 |
T |
C |
9: 105,937,331 (GRCm39) |
D1395G |
probably damaging |
Het |
Cpa1 |
A |
G |
6: 30,641,818 (GRCm39) |
D214G |
probably damaging |
Het |
Cttnbp2 |
T |
G |
6: 18,408,693 (GRCm39) |
D976A |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,214,340 (GRCm39) |
E693G |
probably damaging |
Het |
Fat1 |
G |
T |
8: 45,476,737 (GRCm39) |
A1928S |
probably damaging |
Het |
Fiz1 |
C |
T |
7: 5,011,685 (GRCm39) |
E278K |
probably benign |
Het |
Flnc |
C |
T |
6: 29,459,507 (GRCm39) |
P2536S |
probably damaging |
Het |
Gm6370 |
T |
A |
5: 146,430,539 (GRCm39) |
D241E |
probably benign |
Het |
Hlcs |
T |
C |
16: 94,032,011 (GRCm39) |
T451A |
probably benign |
Het |
Hmgcr |
A |
G |
13: 96,793,141 (GRCm39) |
L497P |
probably damaging |
Het |
Hmgcs2 |
T |
A |
3: 98,198,499 (GRCm39) |
I134N |
probably damaging |
Het |
Ifit1bl1 |
C |
T |
19: 34,571,741 (GRCm39) |
E239K |
probably benign |
Het |
Ift52 |
G |
A |
2: 162,873,150 (GRCm39) |
S221N |
probably benign |
Het |
Knstrn |
T |
A |
2: 118,661,456 (GRCm39) |
|
probably null |
Het |
Map3k14 |
T |
A |
11: 103,130,280 (GRCm39) |
K212N |
possibly damaging |
Het |
Ndufb7 |
A |
G |
8: 84,297,528 (GRCm39) |
H61R |
probably damaging |
Het |
Nop56 |
T |
A |
2: 130,119,488 (GRCm39) |
I51N |
probably damaging |
Het |
Nudt5 |
A |
T |
2: 5,860,794 (GRCm39) |
I22F |
possibly damaging |
Het |
Or10j2 |
T |
A |
1: 173,097,703 (GRCm39) |
|
probably null |
Het |
Or4p23 |
C |
G |
2: 88,576,953 (GRCm39) |
G93A |
probably benign |
Het |
Or7d11 |
T |
C |
9: 19,966,507 (GRCm39) |
N84S |
possibly damaging |
Het |
P3h4 |
G |
A |
11: 100,304,832 (GRCm39) |
A185V |
probably benign |
Het |
Pdcl |
A |
T |
2: 37,242,056 (GRCm39) |
N231K |
probably benign |
Het |
Plcb4 |
T |
C |
2: 135,844,514 (GRCm39) |
I144T |
probably benign |
Het |
Pramel32 |
A |
T |
4: 88,546,355 (GRCm39) |
L329Q |
probably damaging |
Het |
Prrc2b |
C |
A |
2: 32,113,476 (GRCm39) |
Q1970K |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Sars2 |
T |
C |
7: 28,449,099 (GRCm39) |
V302A |
possibly damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Spata31d1d |
A |
G |
13: 59,879,435 (GRCm39) |
C34R |
possibly damaging |
Het |
Speg |
A |
T |
1: 75,407,121 (GRCm39) |
T3137S |
probably benign |
Het |
Ssh3 |
A |
G |
19: 4,319,101 (GRCm39) |
L3P |
probably damaging |
Het |
Stard9 |
GAAA |
GAA |
2: 120,529,012 (GRCm39) |
|
probably null |
Het |
Stoml2 |
G |
T |
4: 43,030,243 (GRCm39) |
Y119* |
probably null |
Het |
Susd1 |
A |
G |
4: 59,349,843 (GRCm39) |
L531P |
possibly damaging |
Het |
Taco1 |
C |
T |
11: 105,962,760 (GRCm39) |
A149V |
probably benign |
Het |
Tenm3 |
T |
C |
8: 49,127,585 (GRCm39) |
E31G |
probably benign |
Het |
Tmc1 |
A |
T |
19: 20,918,269 (GRCm39) |
L2M |
probably benign |
Het |
Tmem39b |
A |
C |
4: 129,587,716 (GRCm39) |
S32A |
probably benign |
Het |
Tnfsf14 |
T |
C |
17: 57,497,638 (GRCm39) |
D198G |
possibly damaging |
Het |
Trabd2b |
T |
C |
4: 114,460,191 (GRCm39) |
L443P |
probably damaging |
Het |
Trip4 |
T |
A |
9: 65,771,547 (GRCm39) |
I328F |
probably damaging |
Het |
Trpc3 |
A |
G |
3: 36,704,298 (GRCm39) |
F553S |
possibly damaging |
Het |
Tssk2 |
A |
G |
16: 17,716,603 (GRCm39) |
D2G |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,601,985 (GRCm39) |
N18559S |
possibly damaging |
Het |
Vmn1r23 |
T |
C |
6: 57,903,604 (GRCm39) |
D58G |
probably benign |
Het |
Zbtb47 |
A |
G |
9: 121,591,703 (GRCm39) |
T8A |
possibly damaging |
Het |
Zfyve27 |
C |
A |
19: 42,171,885 (GRCm39) |
A139D |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGGAAAAGGATGCCATGTTCTTG -3'
(R):5'- ATGGTGAGTCTCAGGTCAGC -3'
Sequencing Primer
(F):5'- CCATGTTCTTGGCCCCC -3'
(R):5'- AGGTCAGCCTGTCTCAGAAG -3'
|
Posted On |
2014-10-02 |