Mutagenetix > Incidental Mutation

Incidental Mutation 'R5153:Elapor1'

395501

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

042735-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R5153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108363010-108443852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108380063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 349 (Y349N)

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

possibly damaging
Transcript: ENSMUST00000048012
AA Change: Y297N

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040128
Gene: ENSMUSG00000040412
AA Change: Y297N

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

possibly damaging
Transcript: ENSMUST00000106625
AA Change: Y399N

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102236
Gene: ENSMUSG00000040412
AA Change: Y399N

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: Y349N

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102237
Gene: ENSMUSG00000040412
AA Change: Y349N

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,073 (GRCm39)	C257S	unknown	Het
4930596D02Rik	C	A	14: 35,532,212 (GRCm39)	R121L	probably benign	Het
Aadacl4fm1	T	A	4: 144,248,837 (GRCm39)	M68K	probably benign	Het
Acin1	A	G	14: 54,883,070 (GRCm39)	V194A	probably benign	Het
Acsm1	T	C	7: 119,239,950 (GRCm39)	I298T	possibly damaging	Het
Aoc1	A	G	6: 48,885,681 (GRCm39)	N729D	probably benign	Het
Apobr	C	T	7: 126,186,904 (GRCm39)	T20I	possibly damaging	Het
Arsb	A	G	13: 94,077,106 (GRCm39)	E491G	probably benign	Het
AW209491	C	G	13: 14,811,764 (GRCm39)	Q206E	probably benign	Het
Camsap1	A	T	2: 25,823,630 (GRCm39)	N1473K	probably damaging	Het
Casp8	A	G	1: 58,884,004 (GRCm39)	Q457R	probably benign	Het
Ccdc154	G	A	17: 25,387,315 (GRCm39)	A350T	probably damaging	Het
Cecr2	A	G	6: 120,711,521 (GRCm39)	E183G	probably benign	Het
Cep295	A	T	9: 15,268,925 (GRCm39)	S39T	probably benign	Het
Cep350	A	T	1: 155,811,692 (GRCm39)	I416K	probably damaging	Het
Cidea	C	T	18: 67,500,490 (GRCm39)	T184M	probably damaging	Het
Cnot10	G	A	9: 114,442,803 (GRCm39)	A468V	probably damaging	Het
Cstdc1	A	G	2: 148,625,360 (GRCm39)	Q98R	probably benign	Het
Defb22	A	T	2: 152,327,722 (GRCm39)	N154K	unknown	Het
Dnah17	A	T	11: 117,973,800 (GRCm39)	C1915*	probably null	Het
Dnah2	T	C	11: 69,411,759 (GRCm39)	T288A	possibly damaging	Het
Dop1b	T	A	16: 93,570,891 (GRCm39)	M1512K	probably damaging	Het
Dsp	T	G	13: 38,366,282 (GRCm39)	I572S	probably damaging	Het
Eepd1	A	G	9: 25,498,049 (GRCm39)	H378R	probably benign	Het
Emilin2	A	G	17: 71,580,497 (GRCm39)	M743T	possibly damaging	Het
Ext1	C	A	15: 52,939,213 (GRCm39)	W612L	probably damaging	Het
F2rl2	A	G	13: 95,833,620 (GRCm39)	T17A	probably benign	Het
Fbxl8	T	G	8: 105,993,739 (GRCm39)	C32G	probably damaging	Het
Fbxw17	A	G	13: 50,573,897 (GRCm39)	T38A	probably damaging	Het
Flii	A	T	11: 60,607,512 (GRCm39)	L882Q	possibly damaging	Het
Focad	T	G	4: 88,278,121 (GRCm39)	S1197A	unknown	Het
H1f11-ps	A	G	19: 47,159,356 (GRCm39)	V73A	probably damaging	Het
Heatr5b	G	A	17: 79,102,536 (GRCm39)	R1281*	probably null	Het
Khdc3	A	G	9: 73,010,720 (GRCm39)	Q190R	probably benign	Het
Krt9	T	A	11: 100,082,068 (GRCm39)	D244V	probably damaging	Het
Ldhd	T	C	8: 112,353,724 (GRCm39)	E463G	probably benign	Het
Lig4	A	T	8: 10,023,003 (GRCm39)	V259E	possibly damaging	Het
Luc7l3	A	T	11: 94,186,806 (GRCm39)		probably benign	Het
Man1a2	T	C	3: 100,563,579 (GRCm39)	E22G	probably damaging	Het
Mmp23	T	G	4: 155,735,797 (GRCm39)	D258A	probably damaging	Het
Msantd2	C	T	9: 37,434,509 (GRCm39)	R250*	probably null	Het
Mynn	T	C	3: 30,665,738 (GRCm39)	S457P	probably benign	Het
Nectin1	C	T	9: 43,714,795 (GRCm39)	H50Y	probably damaging	Het
Or10a3b	T	C	7: 108,444,906 (GRCm39)	I104V	probably benign	Het
Or2d3c	C	T	7: 106,525,776 (GRCm39)	V297M	possibly damaging	Het
Or4a47	G	A	2: 89,665,578 (GRCm39)	T237I	possibly damaging	Het
Or6c6c	A	G	10: 129,541,026 (GRCm39)	N93S	probably benign	Het
Pfkfb2	G	A	1: 130,629,527 (GRCm39)	T303M	probably damaging	Het
Pkhd1l1	A	G	15: 44,368,705 (GRCm39)	D841G	probably benign	Het
Plxna4	A	T	6: 32,201,094 (GRCm39)		probably null	Het
Podnl1	C	T	8: 84,857,272 (GRCm39)	H294Y	probably benign	Het
Ppig	T	A	2: 69,579,994 (GRCm39)	D509E	unknown	Het
Ppp1r16a	T	A	15: 76,578,596 (GRCm39)	Y433*	probably null	Het
Prdm1	A	C	10: 44,326,221 (GRCm39)	V134G	possibly damaging	Het
Prx	T	C	7: 27,217,901 (GRCm39)	S940P	probably damaging	Het
Ptprd	C	T	4: 75,930,339 (GRCm39)	V731I	probably damaging	Het
Qki	A	G	17: 10,457,820 (GRCm39)		probably null	Het
Rassf6	T	C	5: 90,754,699 (GRCm39)	K206R	possibly damaging	Het
Rdh16f2	G	A	10: 127,712,124 (GRCm39)	E194K	possibly damaging	Het
Rims1	C	A	1: 22,522,328 (GRCm39)	G457*	probably null	Het
Ripk1	T	G	13: 34,197,279 (GRCm39)	I123R	probably damaging	Het
Rnf111	A	T	9: 70,383,422 (GRCm39)	S170R	probably benign	Het
Shc3	A	T	13: 51,615,413 (GRCm39)	F181L	probably damaging	Het
Siglec1	A	C	2: 130,927,497 (GRCm39)	V103G	probably damaging	Het
Slc26a11	G	T	11: 119,268,085 (GRCm39)	A488S	possibly damaging	Het
Smoc2	A	T	17: 14,556,841 (GRCm39)	T97S	probably damaging	Het
Son	T	C	16: 91,451,910 (GRCm39)	I219T	possibly damaging	Het
Sptbn1	A	T	11: 30,071,510 (GRCm39)	I1474N	possibly damaging	Het
Syt16	A	T	12: 74,269,542 (GRCm39)	D127V	possibly damaging	Het
Tet1	G	T	10: 62,714,357 (GRCm39)	N479K	possibly damaging	Het
Thsd7a	G	A	6: 12,338,654 (GRCm39)	A1192V	probably benign	Het
Tmed3	G	A	9: 89,581,825 (GRCm39)	R213*	probably null	Het
Traj57	A	G	14: 54,396,016 (GRCm39)		probably benign	Het
Trpv1	G	T	11: 73,129,342 (GRCm39)	R86S	probably benign	Het
Usp48	T	A	4: 137,343,673 (GRCm39)	F434L	possibly damaging	Het
Vmn2r59	A	C	7: 41,691,834 (GRCm39)		probably null	Het
Vmn2r71	T	A	7: 85,268,430 (GRCm39)	I211N	possibly damaging	Het
Vps13b	T	A	15: 35,422,599 (GRCm39)	D186E	probably damaging	Het
Vps33a	A	G	5: 123,696,691 (GRCm39)	S321P	probably damaging	Het
Wdr12	A	T	1: 60,133,670 (GRCm39)	D19E	probably benign	Het
Zc3h12c	A	G	9: 52,037,947 (GRCm39)	F278L	probably damaging	Het
Zpld1	T	C	16: 55,067,007 (GRCm39)	T183A	probably damaging	Het
Zswim2	G	T	2: 83,770,010 (GRCm39)	T68K	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
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'- CCAGGTCCTGTTTGCAGATG -3'
(R):5'- CCCTATAAGTGATGAATCTTGCTG -3'

Sequencing Primer
(F):5'- CCTGTTTGCAGATGGAGTGAG -3'
(R):5'- CAAAAATCTGCGGTGAGGA -3'

Posted On

2016-06-21