Incidental Mutation 'R0730:Elapor1'
ID 67443
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 038911-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R0730 (G1)
Quality Score 209
Status Not validated
Chromosome 3
Chromosomal Location 108363010-108443852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108376851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 509 (H509L)
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: H457L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040128
Gene: ENSMUSG00000040412
AA Change: H457L

DomainStartEndE-ValueType
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: H559L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102236
Gene: ENSMUSG00000040412
AA Change: H559L

DomainStartEndE-ValueType
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: H509L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102237
Gene: ENSMUSG00000040412
AA Change: H509L

DomainStartEndE-ValueType
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: ENSMUST00000140357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148493
Predicted Effect probably benign
Transcript: ENSMUST00000185128
SMART Domains Protein: ENSMUSP00000138870
Gene: ENSMUSG00000040412

DomainStartEndE-ValueType
low complexity region 25 31 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency 99% (99/100)
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A T 8: 25,486,774 (GRCm39) I168N probably benign Het
Adamts20 G A 15: 94,245,571 (GRCm39) A577V probably benign Het
Agtr1a A T 13: 30,565,279 (GRCm39) S115C probably damaging Het
Ankrd11 T C 8: 123,618,692 (GRCm39) Y1720C probably damaging Het
Ano6 A T 15: 95,818,252 (GRCm39) T353S probably damaging Het
App A G 16: 84,876,840 (GRCm39) F184L probably damaging Het
Arhgef38 T A 3: 132,843,232 (GRCm39) Y446F probably benign Het
Aspg T A 12: 112,078,693 (GRCm39) Y57* probably null Het
Atp1a4 G A 1: 172,067,774 (GRCm39) probably benign Het
Bdp1 G A 13: 100,195,459 (GRCm39) probably benign Het
Bicd2 T A 13: 49,531,717 (GRCm39) S246T possibly damaging Het
Brd10 T A 19: 29,695,381 (GRCm39) I1438F probably benign Het
Bsn T A 9: 107,984,011 (GRCm39) M3348L unknown Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cacna2d3 T C 14: 28,704,322 (GRCm39) I820V probably benign Het
Cdc40 A G 10: 40,720,952 (GRCm39) probably benign Het
Cdh23 T C 10: 60,159,493 (GRCm39) E2094G probably damaging Het
Celsr2 T A 3: 108,305,922 (GRCm39) N2061Y probably damaging Het
Cfap206 G A 4: 34,711,391 (GRCm39) A502V probably benign Het
Cfap54 T C 10: 92,870,599 (GRCm39) T29A probably benign Het
Cfap57 T C 4: 118,470,117 (GRCm39) probably null Het
Chd5 A G 4: 152,432,441 (GRCm39) E43G possibly damaging Het
Clk1 G A 1: 58,453,558 (GRCm39) H343Y probably benign Het
Cntn4 A C 6: 106,527,447 (GRCm39) K443T probably damaging Het
Csn2 G A 5: 87,842,811 (GRCm39) A72V possibly damaging Het
Ctdp1 T A 18: 80,493,457 (GRCm39) H346L probably benign Het
Ctif A T 18: 75,698,083 (GRCm39) N192K probably damaging Het
Ddr2 G A 1: 169,823,135 (GRCm39) A383V probably benign Het
Derl3 C T 10: 75,731,076 (GRCm39) probably benign Het
Dgkh T C 14: 78,821,919 (GRCm39) I865V probably damaging Het
Dip2b C T 15: 100,069,532 (GRCm39) A619V probably damaging Het
Eml1 A G 12: 108,496,585 (GRCm39) T614A possibly damaging Het
Eogt G C 6: 97,092,970 (GRCm39) Y402* probably null Het
Erbb4 A G 1: 68,298,449 (GRCm39) V647A probably damaging Het
Esm1 G T 13: 113,350,036 (GRCm39) probably null Het
Fbxo31 A G 8: 122,282,103 (GRCm39) probably benign Het
Fbxw5 T A 2: 25,394,630 (GRCm39) D201E possibly damaging Het
Fgfr1 G A 8: 26,045,760 (GRCm39) D123N probably benign Het
G530012D18Rik A C 1: 85,504,757 (GRCm39) probably benign Het
Gnat1 G A 9: 107,556,662 (GRCm39) T29I probably damaging Het
Gtf2ird2 A T 5: 134,221,597 (GRCm39) R67* probably null Het
Il22b A T 10: 118,130,142 (GRCm39) D87E probably benign Het
Kcnq3 T C 15: 65,867,457 (GRCm39) T729A probably benign Het
Klrc2 A T 6: 129,635,659 (GRCm39) S156R probably damaging Het
Krt76 A T 15: 101,795,784 (GRCm39) L462Q probably damaging Het
Lama3 C A 18: 12,589,907 (GRCm39) probably benign Het
Lin28a A T 4: 133,735,319 (GRCm39) S56T probably damaging Het
Macf1 A G 4: 123,276,323 (GRCm39) probably benign Het
Macrod2 C T 2: 142,059,594 (GRCm39) probably benign Het
Mansc1 C T 6: 134,594,424 (GRCm39) probably benign Het
Map1b G T 13: 99,566,274 (GRCm39) S2149* probably null Het
Mgst1 A T 6: 138,124,667 (GRCm39) T34S probably benign Het
Mlf2 C T 6: 124,911,354 (GRCm39) T123M probably damaging Het
Mospd2 C T X: 163,731,253 (GRCm39) probably benign Het
Mrpl15 A T 1: 4,847,834 (GRCm39) V155E probably damaging Het
Mstn A T 1: 53,100,953 (GRCm39) Y10F possibly damaging Het
Myo1g C T 11: 6,470,794 (GRCm39) V21M probably damaging Het
Myom2 T C 8: 15,149,326 (GRCm39) I599T probably benign Het
Ndc80 A T 17: 71,803,241 (GRCm39) N633K probably benign Het
Nhs C A X: 160,620,296 (GRCm39) V1487L possibly damaging Het
Npc1 T C 18: 12,352,382 (GRCm39) T106A probably benign Het
Nup133 C T 8: 124,675,747 (GRCm39) V57M probably benign Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Oprm1 T C 10: 6,782,652 (GRCm39) probably benign Het
Or5j1 T C 2: 86,879,492 (GRCm39) I29M probably benign Het
Or6c219 T A 10: 129,780,980 (GRCm39) H317L probably benign Het
Or8j3 A G 2: 86,029,069 (GRCm39) V9A probably benign Het
Ostf1 C T 19: 18,581,571 (GRCm39) V14I unknown Het
Pcdhb14 C A 18: 37,581,921 (GRCm39) D342E probably damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pdpr T C 8: 111,852,387 (GRCm39) probably null Het
Plce1 G A 19: 38,705,135 (GRCm39) V847M probably damaging Het
Pon3 A G 6: 5,230,444 (GRCm39) M288T probably benign Het
Psd2 A T 18: 36,111,627 (GRCm39) D84V possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgapa1 T C 12: 55,712,448 (GRCm39) K1808E probably damaging Het
Ramp3 T C 11: 6,626,476 (GRCm39) probably benign Het
Rasgrf1 T A 9: 89,833,062 (GRCm39) probably benign Het
Rictor A G 15: 6,803,467 (GRCm39) probably benign Het
Rptor A T 11: 119,775,780 (GRCm39) I984F probably benign Het
Slc1a6 C T 10: 78,631,842 (GRCm39) P223S probably benign Het
Taar8b A C 10: 23,967,924 (GRCm39) V90G probably damaging Het
Tbc1d21 A G 9: 58,267,160 (GRCm39) V327A probably benign Het
Tex21 T C 12: 76,250,940 (GRCm39) T499A probably benign Het
Tg A T 15: 66,550,638 (GRCm39) D256V probably damaging Het
Tmf1 A G 6: 97,153,453 (GRCm39) S207P probably benign Het
Tpr A G 1: 150,269,158 (GRCm39) probably benign Het
Ufd1 A G 16: 18,633,637 (GRCm39) T21A probably damaging Het
Unc13a T C 8: 72,108,929 (GRCm39) D115G possibly damaging Het
Usb1 T A 8: 96,070,669 (GRCm39) F198L probably damaging Het
Utrn A T 10: 12,573,902 (GRCm39) probably benign Het
Vars1 A G 17: 35,233,276 (GRCm39) N954S probably damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Wdr33 C T 18: 31,968,429 (GRCm39) probably benign Het
Zfp236 A G 18: 82,658,369 (GRCm39) probably benign Het
Zfp445 A T 9: 122,690,823 (GRCm39) V124E probably damaging Het
Zfp616 A T 11: 73,975,648 (GRCm39) H639L probably damaging Het
Zfyve16 C A 13: 92,657,985 (GRCm39) S642I probably damaging Het
Zswim5 C T 4: 116,842,943 (GRCm39) T896I possibly damaging Het
Other mutations in Elapor1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TGAACTCAGAAGCCAGCATGAGC -3'
(R):5'- TGCCAGGGACTCCCTAGTACTTAAC -3'

Sequencing Primer
(F):5'- AGCTCACAGCAGGAGCC -3'
(R):5'- TGTGTTAGCCCACAGCATAG -3'
Posted On 2013-09-03