Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02869:Elapor1'

362496

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Elapor1

Ensembl Gene

ENSMUSG00000040412

Gene Name

endosome-lysosome associated apoptosis and autophagy regulator 1

Synonyms

5330417C22Rik, Iir, Inceptor

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL02869

Quality Score

Status

Chromosome

Chromosomal Location

108363010-108443852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108380182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 309 (I309T)

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: I257T

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000040128
Gene: ENSMUSG00000040412
AA Change: I257T

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: I359T

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102236
Gene: ENSMUSG00000040412
AA Change: I359T

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: I309T

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102237
Gene: ENSMUSG00000040412
AA Change: I309T

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

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,685,323 (GRCm39)	S1142T	possibly damaging	Het
Aadacl4fm5	T	C	4: 144,512,938 (GRCm39)	I54V	probably benign	Het
Actr3b	T	G	5: 26,037,433 (GRCm39)	V215G	probably damaging	Het
Adam9	C	T	8: 25,460,634 (GRCm39)	V617M	probably damaging	Het
Adgrl2	G	T	3: 148,596,241 (GRCm39)	P32T	probably damaging	Het
Afg2a	G	T	3: 37,518,694 (GRCm39)	G743W	probably damaging	Het
Ago3	A	T	4: 126,261,580 (GRCm39)		probably benign	Het
Allc	A	C	12: 28,623,206 (GRCm39)	I20M	probably benign	Het
Asic3	G	A	5: 24,621,972 (GRCm39)	W361*	probably null	Het
Atf7ip	A	G	6: 136,583,577 (GRCm39)	K1203E	probably damaging	Het
Babam2	C	A	5: 32,162,116 (GRCm39)	H272Q	possibly damaging	Het
Baz2b	G	A	2: 59,807,872 (GRCm39)	T129I	probably benign	Het
C130073F10Rik	A	T	4: 101,747,590 (GRCm39)	Y146*	probably null	Het
Cd247	A	G	1: 165,684,986 (GRCm39)	E74G	probably damaging	Het
Cdh17	A	T	4: 11,814,908 (GRCm39)	Q778L	probably benign	Het
Ceacam1	T	C	7: 25,175,966 (GRCm39)	D76G	probably benign	Het
Cela3a	T	C	4: 137,131,145 (GRCm39)	K198E	probably benign	Het
Cemip2	T	A	19: 21,789,241 (GRCm39)	D558E	probably damaging	Het
Ces2a	T	A	8: 105,465,691 (GRCm39)	D281E	probably damaging	Het
Cetn2	A	T	X: 71,958,527 (GRCm39)	D116E	probably damaging	Het
Cracd	A	G	5: 77,006,890 (GRCm39)	K1084E	unknown	Het
Ctu2	G	T	8: 123,205,530 (GRCm39)		probably null	Het
Cybb	T	C	X: 9,308,828 (GRCm39)	N469D	probably benign	Het
Cygb	C	T	11: 116,540,749 (GRCm39)	R79Q	probably damaging	Het
Cyp2d10	C	T	15: 82,288,069 (GRCm39)	V186M	possibly damaging	Het
Defb29	T	A	2: 152,380,942 (GRCm39)		probably null	Het
Depdc7	T	G	2: 104,560,694 (GRCm39)	Q100P	probably damaging	Het
Dhx30	A	C	9: 109,926,251 (GRCm39)	I91R	probably damaging	Het
Dnm1l	T	A	16: 16,159,288 (GRCm39)	K105*	probably null	Het
Eddm13	T	C	7: 6,272,898 (GRCm39)		probably benign	Het
Efhc1	T	C	1: 21,037,567 (GRCm39)	I248T	probably damaging	Het
Entpd2	A	G	2: 25,288,120 (GRCm39)	T115A	probably damaging	Het
Epb42	G	T	2: 120,856,227 (GRCm39)	A439E	probably benign	Het
Esm1	T	G	13: 113,346,618 (GRCm39)	L81R	probably damaging	Het
F8	T	C	X: 74,330,987 (GRCm39)	S968G	probably benign	Het
Fam234b	T	G	6: 135,202,201 (GRCm39)	Y308D	probably damaging	Het
Fbxo46	T	G	7: 18,871,139 (GRCm39)	V586G	probably damaging	Het
Foxp1	C	A	6: 98,907,044 (GRCm39)		probably benign	Het
Gm10754	A	T	10: 97,518,136 (GRCm39)		probably benign	Het
Gm12695	A	C	4: 96,650,370 (GRCm39)		probably benign	Het
Gm5468	T	C	15: 25,414,726 (GRCm39)		probably benign	Het
Grhl1	T	C	12: 24,631,490 (GRCm39)	S66P	probably damaging	Het
Gstt3	A	T	10: 75,612,576 (GRCm39)		probably null	Het
Gtf2i	A	G	5: 134,308,281 (GRCm39)		probably benign	Het
Gzmk	C	A	13: 113,308,560 (GRCm39)	G175C	probably damaging	Het
Helz2	T	C	2: 180,872,939 (GRCm39)		probably benign	Het
Ift20	T	C	11: 78,430,780 (GRCm39)		probably benign	Het
Intu	A	G	3: 40,642,216 (GRCm39)	D491G	probably damaging	Het
Itch	G	T	2: 155,015,853 (GRCm39)		probably null	Het
Itgb5	A	G	16: 33,665,362 (GRCm39)	N26S	possibly damaging	Het
Lama2	A	T	10: 26,891,534 (GRCm39)	S2526R	probably damaging	Het
Lat2	A	G	5: 134,637,027 (GRCm39)	I40T	probably damaging	Het
Lipa	T	A	19: 34,471,397 (GRCm39)	M393L	probably benign	Het
Lipa	G	T	19: 34,471,371 (GRCm39)		probably benign	Het
Lpcat1	T	A	13: 73,632,417 (GRCm39)	L10H	probably damaging	Het
Lpcat3	T	C	6: 124,679,970 (GRCm39)	Y348H	possibly damaging	Het
Lrp1b	A	T	2: 40,591,842 (GRCm39)	N50K	unknown	Het
Lrrk2	T	A	15: 91,634,480 (GRCm39)	Y1415N	probably damaging	Het
Lsamp	A	T	16: 41,965,078 (GRCm39)	T312S	probably benign	Het
Man2a2	T	C	7: 80,013,689 (GRCm39)	E454G	probably benign	Het
Mcm3	T	C	1: 20,879,063 (GRCm39)	K570R	probably damaging	Het
Mctp2	C	A	7: 71,878,219 (GRCm39)		probably null	Het
Msantd2	T	G	9: 37,434,796 (GRCm39)	C345W	probably damaging	Het
Musk	T	C	4: 58,354,078 (GRCm39)	I362T	probably benign	Het
Myh15	A	T	16: 48,965,767 (GRCm39)	N1224I	probably benign	Het
Myo18a	A	G	11: 77,755,612 (GRCm39)	Y1983C	probably damaging	Het
Myo18a	C	T	11: 77,720,699 (GRCm39)		probably benign	Het
Myrfl	G	T	10: 116,664,909 (GRCm39)	Q374K	probably damaging	Het
Ndrg1	T	A	15: 66,818,346 (GRCm39)	Q87H	probably benign	Het
Nol9	G	A	4: 152,131,030 (GRCm39)	C351Y	probably damaging	Het
Nr5a1	A	G	2: 38,598,141 (GRCm39)	S219P	probably benign	Het
Or8b43	T	C	9: 38,360,489 (GRCm39)	F107S	possibly damaging	Het
Or8g28	A	T	9: 39,169,520 (GRCm39)	Y149*	probably null	Het
Pcdhb19	A	G	18: 37,631,690 (GRCm39)	D495G	probably damaging	Het
Pfkm	A	G	15: 98,026,123 (GRCm39)	M573V	probably damaging	Het
Plec	A	T	15: 76,065,516 (GRCm39)	L1586Q	probably damaging	Het
Prelp	C	A	1: 133,843,005 (GRCm39)	E47*	probably null	Het
Rbm33	T	A	5: 28,615,753 (GRCm39)	I32N	probably damaging	Het
Rgs12	A	T	5: 35,183,227 (GRCm39)	D310V	probably damaging	Het
Ripor2	A	C	13: 24,880,512 (GRCm39)	H404P	possibly damaging	Het
Sh3d21	T	C	4: 126,056,034 (GRCm39)	E124G	probably benign	Het
Shroom2	C	T	X: 151,442,549 (GRCm39)	S872N	probably benign	Het
Slc44a5	A	G	3: 153,956,651 (GRCm39)	Y301C	probably damaging	Het
Smap1	A	T	1: 23,930,995 (GRCm39)	H66Q	possibly damaging	Het
Smyd1	G	T	6: 71,198,007 (GRCm39)		probably benign	Het
Sptbn4	T	A	7: 27,093,573 (GRCm39)		probably benign	Het
Srsf3-ps	T	A	11: 98,516,146 (GRCm39)	R76*	probably null	Het
Stag3	A	G	5: 138,280,955 (GRCm39)	K49R	probably damaging	Het
Stim1	C	A	7: 101,917,758 (GRCm39)	A46E	unknown	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tbc1d19	A	G	5: 53,992,559 (GRCm39)	T114A	probably benign	Het
Tln2	G	A	9: 67,128,807 (GRCm39)		probably benign	Het
Trmt10a	T	A	3: 137,857,945 (GRCm39)		probably null	Het
Vwde	G	A	6: 13,187,136 (GRCm39)	H784Y	probably damaging	Het
Zfp773	T	C	7: 7,137,232 (GRCm39)	T121A	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
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
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

Posted On

2015-12-18