Mutagenetix > Incidental Mutation

Incidental Mutation 'R2202:Elapor1'

238715

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

040204-MU

Accession Numbers

Essential gene?

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

Stock #

R2202 (G1)

Quality Score

225

Status

Not validated

Chromosome

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: 98.6%
10x: 97.5%
20x: 95.6%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 64,056,011 (GRCm39)	V249A	possibly damaging	Het
9930111J21Rik2	C	G	11: 48,910,149 (GRCm39)	L761F	probably damaging	Het
Abca1	G	A	4: 53,090,291 (GRCm39)	T386I	probably damaging	Het
Abca14	T	C	7: 119,888,764 (GRCm39)	Y1237H	probably benign	Het
Abi3bp	C	T	16: 56,471,088 (GRCm39)	R578*	probably null	Het
Abi3bp	T	G	16: 56,433,566 (GRCm39)	L550R	probably benign	Het
Adamts7	A	T	9: 90,062,729 (GRCm39)	K394N	probably damaging	Het
Ahdc1	A	G	4: 132,793,220 (GRCm39)	E1487G	possibly damaging	Het
AI987944	T	C	7: 41,023,950 (GRCm39)	E343G	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
Atp1b1	G	T	1: 164,281,084 (GRCm39)	T11K	probably benign	Het
Calr3	A	G	8: 73,188,683 (GRCm39)	L40S	probably damaging	Het
Ccar1	A	C	10: 62,581,066 (GRCm39)	D1119E	unknown	Het
Cdan1	C	A	2: 120,551,241 (GRCm39)	C1093F	probably damaging	Het
Cdk12	T	G	11: 98,101,464 (GRCm39)	S441A	unknown	Het
Ces4a	T	A	8: 105,872,746 (GRCm39)	V333E	probably damaging	Het
Cfap61	T	C	2: 146,056,600 (GRCm39)	L1193P	probably damaging	Het
Chd2	A	T	7: 73,128,416 (GRCm39)	D856E	probably benign	Het
Chil3	T	C	3: 106,071,562 (GRCm39)	D34G	probably benign	Het
Cln3	T	A	7: 126,178,390 (GRCm39)	H211L	probably benign	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
Dcstamp	T	A	15: 39,617,708 (GRCm39)	V39E	probably damaging	Het
Dicer1	C	T	12: 104,697,297 (GRCm39)	V87M	possibly damaging	Het
Duox1	A	G	2: 122,175,194 (GRCm39)	T1331A	probably benign	Het
Fam184a	T	A	10: 53,528,530 (GRCm39)	Q29L	probably damaging	Het
Fcer2a	T	C	8: 3,738,557 (GRCm39)	E60G	possibly damaging	Het
Flnc	C	T	6: 29,459,507 (GRCm39)	P2536S	probably damaging	Het
Fnbp1l	A	T	3: 122,340,611 (GRCm39)	M463K	probably benign	Het
Garem2	A	G	5: 30,319,762 (GRCm39)	D408G	probably benign	Het
Gm6370	T	A	5: 146,430,539 (GRCm39)	D241E	probably benign	Het
Gpc3	T	A	X: 51,486,083 (GRCm39)	I344F	probably damaging	Het
Gtf2e1	T	A	16: 37,331,904 (GRCm39)	E390D	possibly damaging	Het
Hmgcs2	T	A	3: 98,198,499 (GRCm39)	I134N	probably damaging	Het
Il15ra	T	A	2: 11,723,155 (GRCm39)		probably null	Het
Ints8	A	T	4: 11,225,712 (GRCm39)	M615K	possibly damaging	Het
Irak1	G	A	X: 73,060,744 (GRCm39)	T193I	probably damaging	Het
Jmjd1c	A	G	10: 67,075,242 (GRCm39)		probably null	Het
Knstrn	T	A	2: 118,661,456 (GRCm39)		probably null	Het
Letm1	C	A	5: 33,926,830 (GRCm39)	V156L	possibly damaging	Het
Lrrc24	G	A	15: 76,607,111 (GRCm39)	P95L	probably damaging	Het
Map2k2	T	C	10: 80,955,213 (GRCm39)	S14P	probably damaging	Het
Me3	T	C	7: 89,499,589 (GRCm39)	Y535H	probably damaging	Het
Nfatc2ip	T	C	7: 125,990,467 (GRCm39)	E178G	probably benign	Het
Nop56	T	A	2: 130,119,488 (GRCm39)	I51N	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Nudt5	A	T	2: 5,860,794 (GRCm39)	I22F	possibly damaging	Het
Or10a2	T	A	7: 106,673,523 (GRCm39)	W163R	probably damaging	Het
Or2m12	C	T	16: 19,105,047 (GRCm39)	A149T	probably benign	Het
Or4p23	C	G	2: 88,576,953 (GRCm39)	G93A	probably benign	Het
Pbrm1	A	G	14: 30,754,406 (GRCm39)	D142G	possibly damaging	Het
Pdcl	A	T	2: 37,242,056 (GRCm39)	N231K	probably benign	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pid1	T	A	1: 84,016,159 (GRCm39)	I69F	probably damaging	Het
Pkhd1	A	G	1: 20,607,584 (GRCm39)	S1091P	probably benign	Het
Plcb4	T	C	2: 135,844,514 (GRCm39)	I144T	probably benign	Het
Plxnd1	T	C	6: 115,939,725 (GRCm39)	N1418S	probably benign	Het
Pmm1	T	C	15: 81,840,601 (GRCm39)	T82A	probably benign	Het
Prrc2b	C	A	2: 32,113,476 (GRCm39)	Q1970K	probably damaging	Het
Ptprz1	C	T	6: 23,000,649 (GRCm39)	T913M	possibly damaging	Het
Ralgapa1	T	C	12: 55,659,585 (GRCm39)		probably null	Het
Rbm8a2	T	C	1: 175,806,420 (GRCm39)	E19G	possibly damaging	Het
Rgs3	T	C	4: 62,608,741 (GRCm39)	S336P	probably damaging	Het
Saxo5	A	T	8: 3,529,028 (GRCm39)	D201V	probably benign	Het
Serpina11	G	T	12: 103,952,233 (GRCm39)	T179K	probably damaging	Het
Serpina1f	T	C	12: 103,659,655 (GRCm39)	N209S	possibly damaging	Het
Serpinf2	G	A	11: 75,327,588 (GRCm39)	T159I	probably benign	Het
Slc19a1	T	C	10: 76,877,758 (GRCm39)	C98R	possibly damaging	Het
Slc22a20	A	T	19: 6,021,553 (GRCm39)	I483N	possibly damaging	Het
Spata31d1d	A	G	13: 59,879,435 (GRCm39)	C34R	possibly damaging	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
Timd5	A	G	11: 46,419,394 (GRCm39)	N70S	probably benign	Het
Tln1	C	T	4: 43,553,083 (GRCm39)		probably null	Het
Tmem39b	A	C	4: 129,587,716 (GRCm39)	S32A	probably benign	Het
Tmx3	T	C	18: 90,546,037 (GRCm39)	F206S	probably damaging	Het
Tnfsf14	T	C	17: 57,497,638 (GRCm39)	D198G	possibly damaging	Het
Trappc10	A	G	10: 78,034,876 (GRCm39)		probably null	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
Ube3b	G	A	5: 114,527,135 (GRCm39)	V118M	probably damaging	Het
Vmn1r23	T	C	6: 57,903,604 (GRCm39)	D58G	probably benign	Het
Vmn2r53	T	A	7: 12,335,366 (GRCm39)	Y98F	probably damaging	Het
Vmn2r58	T	A	7: 41,513,594 (GRCm39)	N350Y	probably benign	Het
Vmn2r82	A	T	10: 79,192,519 (GRCm39)	H32L	probably benign	Het
Wsb1	T	C	11: 79,131,212 (GRCm39)	I395V	probably benign	Het
Zbtb47	A	G	9: 121,591,703 (GRCm39)	T8A	possibly damaging	Het
Zfat	T	C	15: 68,051,709 (GRCm39)	D695G	probably benign	Het
Zfp358	G	T	8: 3,546,995 (GRCm39)	V526F	possibly damaging	Het
Zmat1	A	G	X: 133,873,861 (GRCm39)	L476P	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
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

Predicted Primers

PCR Primer
(F):5'- AGGAAAAGGATGCCATGTTCTTGG -3'
(R):5'- AGGTCAGCCTGTCTCAGAAG -3'

Sequencing Primer
(F):5'- CCATGTTCTTGGCCCCC -3'
(R):5'- TCTCAGAAGACCAGAAGAAGGC -3'

Posted On

2014-10-02