Incidental Mutation 'R8076:Elapor1'
| ID |
629009 |
| 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 |
067510-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R8076 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108363010-108443852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 108399398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 64
(T64K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102236
(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
AA Change: T64K
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102236
Gene: ENSMUSG00000040412
AA Change: T64K
| 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 benign
Transcript: ENSMUST00000106626
AA Change: T64K
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000102237
Gene: ENSMUSG00000040412
AA Change: T64K
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.1%
|
| Validation Efficiency |
98% (62/63) |
| 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 |
|---|
| Adam9 |
T |
A |
8: 25,452,938 (GRCm39) |
R790* |
probably null |
Het |
| Adamts13 |
C |
A |
2: 26,880,624 (GRCm39) |
P736T |
probably benign |
Het |
| Aldh3b2 |
T |
A |
19: 4,028,859 (GRCm39) |
F176L |
possibly damaging |
Het |
| Aldoart2 |
A |
G |
12: 55,612,696 (GRCm39) |
E207G |
probably benign |
Het |
| Arid4b |
A |
T |
13: 14,361,535 (GRCm39) |
E753D |
probably benign |
Het |
| Cd160 |
T |
A |
3: 96,709,662 (GRCm39) |
T158S |
probably benign |
Het |
| Cd209g |
T |
A |
8: 4,185,195 (GRCm39) |
M1K |
probably null |
Het |
| Chrm4 |
A |
G |
2: 91,758,204 (GRCm39) |
Y204C |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,456,346 (GRCm39) |
N465K |
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,405,128 (GRCm39) |
H2471Q |
possibly damaging |
Het |
| Dchs1 |
A |
G |
7: 105,411,189 (GRCm39) |
V1612A |
probably damaging |
Het |
| Ddx24 |
A |
G |
12: 103,382,477 (GRCm39) |
V702A |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,003,127 (GRCm39) |
T3609A |
possibly damaging |
Het |
| Dock5 |
A |
T |
14: 68,040,426 (GRCm39) |
|
probably null |
Het |
| Dpy19l2 |
C |
T |
9: 24,591,988 (GRCm39) |
R205H |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,762,363 (GRCm39) |
D473E |
probably damaging |
Het |
| Elobl |
T |
C |
11: 88,855,796 (GRCm39) |
E89G |
possibly damaging |
Het |
| Fam186a |
A |
T |
15: 99,841,351 (GRCm39) |
I1631N |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,159,496 (GRCm39) |
W2411* |
probably null |
Het |
| Fbxl17 |
A |
G |
17: 63,367,360 (GRCm39) |
I671T |
probably damaging |
Het |
| Glul |
C |
T |
1: 153,782,868 (GRCm39) |
T193I |
possibly damaging |
Het |
| Grm7 |
A |
G |
6: 111,543,000 (GRCm39) |
Y907C |
probably damaging |
Het |
| H4c16 |
A |
G |
6: 136,781,124 (GRCm39) |
M85T |
probably benign |
Het |
| Hr |
A |
G |
14: 70,795,381 (GRCm39) |
T309A |
probably benign |
Het |
| Ighg3 |
A |
G |
12: 113,324,158 (GRCm39) |
S110P |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,737,755 (GRCm39) |
E180G |
possibly damaging |
Het |
| Mat2b |
A |
T |
11: 40,576,092 (GRCm39) |
L112Q |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,896,169 (GRCm39) |
M497T |
probably damaging |
Het |
| Mmp24 |
C |
A |
2: 155,649,481 (GRCm39) |
Y299* |
probably null |
Het |
| Mtor |
T |
C |
4: 148,610,260 (GRCm39) |
|
probably null |
Het |
| Olig2 |
C |
A |
16: 91,023,299 (GRCm39) |
D4E |
probably damaging |
Het |
| Or10ag2 |
A |
T |
2: 87,248,889 (GRCm39) |
I164L |
probably benign |
Het |
| Pard3 |
T |
C |
8: 128,142,077 (GRCm39) |
S878P |
probably damaging |
Het |
| Pcgf5 |
C |
T |
19: 36,417,483 (GRCm39) |
P137L |
probably damaging |
Het |
| Pck1 |
A |
G |
2: 172,997,071 (GRCm39) |
N238D |
probably damaging |
Het |
| Pstpip1 |
T |
C |
9: 56,035,064 (GRCm39) |
S346P |
probably benign |
Het |
| Qsox2 |
G |
A |
2: 26,114,897 (GRCm39) |
H40Y |
possibly damaging |
Het |
| Rbpj |
T |
C |
5: 53,799,479 (GRCm39) |
I129T |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Saal1 |
G |
A |
7: 46,360,031 (GRCm39) |
P9L |
probably benign |
Het |
| Sema3c |
A |
G |
5: 17,932,362 (GRCm39) |
I622V |
probably benign |
Het |
| Sigirr |
C |
T |
7: 140,671,785 (GRCm39) |
V333M |
probably benign |
Het |
| Sort1 |
T |
C |
3: 108,246,183 (GRCm39) |
S387P |
probably damaging |
Het |
| Spata31h1 |
A |
C |
10: 82,132,520 (GRCm39) |
Y163* |
probably null |
Het |
| Spta1 |
T |
A |
1: 174,014,797 (GRCm39) |
S426T |
probably benign |
Het |
| Stag3 |
G |
A |
5: 138,281,404 (GRCm39) |
S124N |
probably damaging |
Het |
| Stard10 |
A |
G |
7: 100,993,176 (GRCm39) |
Y244C |
probably damaging |
Het |
| Tcea3 |
T |
A |
4: 135,995,440 (GRCm39) |
I261N |
probably damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,832,267 (GRCm39) |
K395E |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 35,918,048 (GRCm39) |
D1905V |
probably benign |
Het |
| Trim12c |
T |
C |
7: 103,990,037 (GRCm39) |
Y480C |
unknown |
Het |
| Trip11 |
A |
G |
12: 101,849,741 (GRCm39) |
V1441A |
probably damaging |
Het |
| Ttc21a |
G |
A |
9: 119,795,392 (GRCm39) |
R1107Q |
probably benign |
Het |
| Wdr41 |
A |
G |
13: 95,153,838 (GRCm39) |
I296V |
probably benign |
Het |
| Zdbf2 |
T |
A |
1: 63,345,260 (GRCm39) |
V1213E |
possibly damaging |
Het |
| Zfp37 |
T |
C |
4: 62,109,553 (GRCm39) |
N545D |
possibly 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 |
|
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 |
|
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'- TACCACATTTCAGAAGGGCTGG -3'
(R):5'- GGGTATCATGATGCCTTGCTC -3'
Sequencing Primer
(F):5'- AATCTGATGCCTGTGCTGTCAG -3'
(R):5'- GATGCCTTGCTCTTTGCCAGG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation