Mutagenetix > Incidental Mutation

Incidental Mutation 'R7221:Elapor1'

561801

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

045293-MU

Accession Numbers

Essential gene?

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

Stock #

R7221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108363010-108443852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 108382317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 232 (D232A)

Ref Sequence

ENSEMBL: ENSMUSP00000040128 (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: D232A

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040128
Gene: ENSMUSG00000040412
AA Change: D232A

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: D334A

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102236
Gene: ENSMUSG00000040412
AA Change: D334A

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: D284A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102237
Gene: ENSMUSG00000040412
AA Change: D284A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,836,354 (GRCm39)		probably benign	Het
Abr	A	C	11: 76,313,987 (GRCm39)	M720R	probably benign	Het
Acad10	G	A	5: 121,768,273 (GRCm39)	T761M	probably damaging	Het
Agxt	G	T	1: 93,065,623 (GRCm39)	G164V	possibly damaging	Het
Ankar	C	T	1: 72,689,390 (GRCm39)	G1247D	probably damaging	Het
Bptf	A	C	11: 106,945,658 (GRCm39)	L2527R	probably damaging	Het
Brinp2	T	C	1: 158,094,117 (GRCm39)	H195R	possibly damaging	Het
Cacna2d4	G	T	6: 119,213,624 (GRCm39)	R14S	probably benign	Het
Cep126	A	T	9: 8,100,988 (GRCm39)	C515*	probably null	Het
Chia1	A	T	3: 106,039,236 (GRCm39)	N442I	probably damaging	Het
Clasp2	A	G	9: 113,681,825 (GRCm39)	D327G	probably damaging	Het
Cnbd2	T	C	2: 156,215,581 (GRCm39)	F519L	probably benign	Het
Cntrl	T	A	2: 35,041,869 (GRCm39)	F1214I	possibly damaging	Het
Cul9	A	T	17: 46,839,491 (GRCm39)	M829K	probably damaging	Het
Cyp4b1	T	C	4: 115,493,175 (GRCm39)	Q223R	possibly damaging	Het
Defb37	A	T	8: 19,040,988 (GRCm39)	M1K	probably null	Het
Dnah7c	A	T	1: 46,494,937 (GRCm39)	Q55L	possibly damaging	Het
Efcab3	A	G	11: 104,791,432 (GRCm39)	N2882S	probably benign	Het
Eif2b4	A	T	5: 31,345,131 (GRCm39)	D463E	possibly damaging	Het
Elovl1	C	T	4: 118,288,811 (GRCm39)	H167Y	probably damaging	Het
Emb	T	A	13: 117,404,013 (GRCm39)	L255Q	probably damaging	Het
Eogt	T	C	6: 97,089,685 (GRCm39)	Y465C	probably damaging	Het
Erc2	A	G	14: 27,375,115 (GRCm39)	H111R	probably damaging	Het
Fam234b	T	C	6: 135,205,529 (GRCm39)	F498S	probably damaging	Het
Fgfr3	GAGGCTGGCAGCGTGTACGCAGGC	GAGGC	5: 33,890,092 (GRCm39)		probably null	Het
Flrt3	T	A	2: 140,503,090 (GRCm39)	E179D	probably damaging	Het
Fndc3a	T	C	14: 72,793,597 (GRCm39)	R993G	probably benign	Het
Gm14325	T	C	2: 177,476,403 (GRCm39)	T14A	probably damaging	Het
Gm5464	T	A	14: 67,106,681 (GRCm39)	V106D	unknown	Het
Gpatch11	T	A	17: 79,149,546 (GRCm39)	I182N	possibly damaging	Het
Grm6	A	G	11: 50,753,870 (GRCm39)	R725G	probably damaging	Het
Hap1	A	T	11: 100,239,655 (GRCm39)	M588K	probably benign	Het
Icam2	A	G	11: 106,273,268 (GRCm39)	F15L	probably benign	Het
Ints8	A	G	4: 11,225,613 (GRCm39)	M648T	probably benign	Het
Ipo11	A	T	13: 107,029,065 (GRCm39)	L296Q	probably damaging	Het
Kirrel1	G	A	3: 86,993,704 (GRCm39)	Q518*	probably null	Het
Krt18	G	T	15: 101,937,967 (GRCm39)	D155Y	possibly damaging	Het
Lctl	A	T	9: 64,026,217 (GRCm39)	K91*	probably null	Het
Marf1	C	A	16: 13,960,349 (GRCm39)	R565L	probably damaging	Het
Med13	A	T	11: 86,178,921 (GRCm39)	D1458E	probably benign	Het
Mroh8	T	A	2: 157,071,837 (GRCm39)	Y556F	probably benign	Het
Muc16	C	T	9: 18,553,495 (GRCm39)	G4266D	probably benign	Het
Nsrp1	A	T	11: 76,939,249 (GRCm39)	F182I	probably damaging	Het
Obox3	A	T	7: 15,359,983 (GRCm39)	Y229N	probably benign	Het
Or11h7	A	T	14: 50,891,528 (GRCm39)	Y278F	probably damaging	Het
Or2b2	T	C	13: 21,887,272 (GRCm39)	S34P	probably damaging	Het
Or2b4	A	G	17: 38,116,452 (GRCm39)	K139E	probably benign	Het
Or4a74	T	C	2: 89,440,272 (GRCm39)	Y58C	probably damaging	Het
Or4c108	A	G	2: 88,803,497 (GRCm39)	V246A	probably damaging	Het
Or4p22	T	A	2: 88,317,973 (GRCm39)	V299D	probably damaging	Het
Or8d1	A	G	9: 38,766,538 (GRCm39)	Y60C	probably damaging	Het
Pabpc2	T	A	18: 39,906,963 (GRCm39)	V76D	possibly damaging	Het
Parp9	T	C	16: 35,774,071 (GRCm39)	W348R	probably benign	Het
Pdp1	T	C	4: 11,961,004 (GRCm39)	T455A	probably damaging	Het
Phactr2	A	C	10: 13,122,783 (GRCm39)	D446E	possibly damaging	Het
Pi4kb	T	C	3: 94,901,500 (GRCm39)	L389P	probably damaging	Het
Pla2g4f	C	T	2: 120,131,476 (GRCm39)	R749H	probably benign	Het
Plec	A	G	15: 76,059,974 (GRCm39)	V3321A	probably damaging	Het
Plod2	T	C	9: 92,466,580 (GRCm39)	V180A	probably damaging	Het
Plppr5	A	G	3: 117,414,618 (GRCm39)	I80V	probably damaging	Het
Potefam3d	T	G	8: 69,975,316 (GRCm39)	D50A	probably benign	Het
Rubcn	T	C	16: 32,687,293 (GRCm39)		probably null	Het
Sacs	T	C	14: 61,446,255 (GRCm39)	V2767A	probably damaging	Het
Selenbp2	C	G	3: 94,611,133 (GRCm39)	Y414*	probably null	Het
Slc45a4	A	T	15: 73,458,259 (GRCm39)	M430K	probably benign	Het
Smg1	A	G	7: 117,782,020 (GRCm39)	L1145P	possibly damaging	Het
Spns2	A	G	11: 72,347,742 (GRCm39)	V316A	probably benign	Het
Srl	T	A	16: 4,300,811 (GRCm39)	E753D	probably damaging	Het
Thada	T	C	17: 84,771,794 (GRCm39)	T23A	possibly damaging	Het
Tmem231	T	C	8: 112,660,308 (GRCm39)	T31A	probably benign	Het
Tpr	C	T	1: 150,321,929 (GRCm39)	T2321M	possibly damaging	Het
Ttn	T	A	2: 76,772,195 (GRCm39)	N2615I	unknown	Het
Vmn1r41	A	G	6: 89,724,034 (GRCm39)	I192V	probably benign	Het
Vmn2r83	A	T	10: 79,316,001 (GRCm39)	T466S	probably benign	Het
Vnn1	A	G	10: 23,770,952 (GRCm39)	D60G	probably benign	Het
Wiz	G	A	17: 32,578,139 (GRCm39)	P449S	probably benign	Het
Zic1	A	G	9: 91,246,785 (GRCm39)	S96P	probably damaging	Het
Zw10	T	A	9: 48,981,012 (GRCm39)	S471T	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
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
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'- GTCTGGGATTGAGCAAACGG -3'
(R):5'- AACACCTTCTGGAAGTTTGTGTG -3'

Sequencing Primer
(F):5'- ACAGTTCTGGGTGACACAC -3'
(R):5'- CTTCTGGAAGTTTGTGTGGTGACAC -3'

Posted On

2019-06-26