Incidental Mutation 'R4923:Elapor1'
ID 378756
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 042525-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R4923 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 108363010-108443852 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 108379284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048012] [ENSMUST00000106625] [ENSMUST00000106625] [ENSMUST00000106626] [ENSMUST00000106626] [ENSMUST00000185128]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000048012
SMART Domains Protein: ENSMUSP00000040128
Gene: ENSMUSG00000040412

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 null
Transcript: ENSMUST00000106625
SMART Domains Protein: ENSMUSP00000102236
Gene: ENSMUSG00000040412

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 null
Transcript: ENSMUST00000106625
SMART Domains Protein: ENSMUSP00000102236
Gene: ENSMUSG00000040412

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 null
Transcript: ENSMUST00000106626
SMART Domains Protein: ENSMUSP00000102237
Gene: ENSMUSG00000040412

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 probably null
Transcript: ENSMUST00000106626
SMART Domains Protein: ENSMUSP00000102237
Gene: ENSMUSG00000040412

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: ENSMUST00000148493
Predicted Effect probably benign
Transcript: ENSMUST00000185128
SMART Domains Protein: ENSMUSP00000138870
Gene: ENSMUSG00000040412

DomainStartEndE-ValueType
low complexity region 25 31 N/A INTRINSIC
Meta Mutation Damage Score 0.9499 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency 98% (107/109)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 A G 1: 173,287,372 (GRCm39) D124G probably benign Het
Akr1c6 T C 13: 4,504,494 (GRCm39) M293T probably damaging Het
Albfm1 A G 5: 90,709,158 (GRCm39) T23A probably benign Het
Ankhd1 A G 18: 36,722,505 (GRCm39) T343A probably damaging Het
Ano2 T C 6: 125,880,018 (GRCm39) probably benign Het
Arfgap2 G A 2: 91,104,004 (GRCm39) G353R probably damaging Het
Armc3 A G 2: 19,297,791 (GRCm39) probably null Het
Atp11b T C 3: 35,889,528 (GRCm39) probably null Het
Brd4 A G 17: 32,418,214 (GRCm39) M13T probably benign Het
Btd T A 14: 31,384,044 (GRCm39) M10K possibly damaging Het
C1s2 T C 6: 124,602,649 (GRCm39) K515E probably benign Het
Cars1 A T 7: 143,123,587 (GRCm39) Y455N probably damaging Het
Ccdc110 A G 8: 46,396,460 (GRCm39) S784G probably benign Het
Chic2 A G 5: 75,171,872 (GRCm39) probably benign Het
Chka A T 19: 3,942,105 (GRCm39) probably null Het
Chrne A G 11: 70,506,101 (GRCm39) I420T possibly damaging Het
Clstn1 T C 4: 149,729,486 (GRCm39) V747A probably benign Het
Cobll1 A G 2: 64,929,602 (GRCm39) S575P possibly damaging Het
Col6a6 A T 9: 105,666,147 (GRCm39) L3Q probably damaging Het
Comtd1 A T 14: 21,898,813 (GRCm39) probably benign Het
Cpsf2 T C 12: 101,948,243 (GRCm39) V13A probably benign Het
Creb3l4 T A 3: 90,149,521 (GRCm39) I115L probably benign Het
Cyp2j12 C T 4: 95,990,346 (GRCm39) A407T possibly damaging Het
Ddr2 A G 1: 169,825,498 (GRCm39) probably null Het
Dennd4c T C 4: 86,725,775 (GRCm39) L743P probably damaging Het
Egfl8 T C 17: 34,833,171 (GRCm39) T192A probably benign Het
Elf3 A G 1: 135,184,473 (GRCm39) probably benign Het
Entrep2 A G 7: 64,417,439 (GRCm39) S322P probably benign Het
Etv3 T G 3: 87,443,223 (GRCm39) L269R possibly damaging Het
Fah C A 7: 84,251,260 (GRCm39) probably benign Het
Fbll1 C A 11: 35,688,407 (GRCm39) L285F probably benign Het
Fcrla A T 1: 170,748,682 (GRCm39) F154I probably damaging Het
Fnip2 T A 3: 79,396,701 (GRCm39) probably null Het
Focad T C 4: 88,115,083 (GRCm39) probably benign Het
Gabrr1 T A 4: 33,162,820 (GRCm39) I462N possibly damaging Het
Gm57859 C A 11: 113,579,805 (GRCm39) T400K probably benign Het
Gnptab A G 10: 88,265,485 (GRCm39) T366A probably benign Het
Hnrnpu G A 1: 178,159,017 (GRCm39) probably benign Het
Il17ra T A 6: 120,454,406 (GRCm39) V299E possibly damaging Het
Impg1 G A 9: 80,252,360 (GRCm39) Q607* probably null Het
Impg1 T A 9: 80,252,827 (GRCm39) E374V probably damaging Het
Itgax C T 7: 127,747,700 (GRCm39) L1039F probably benign Het
Kcnk2 A T 1: 189,072,133 (GRCm39) V65D probably damaging Het
Kif20b A C 19: 34,918,611 (GRCm39) probably null Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lama5 T G 2: 179,825,942 (GRCm39) I2372L probably benign Het
Lilrb4a A G 10: 51,368,139 (GRCm39) T85A possibly damaging Het
Mapk13 C A 17: 28,997,197 (GRCm39) H330N probably benign Het
Mars1 C A 10: 127,132,549 (GRCm39) probably benign Het
Mdga1 C A 17: 30,057,052 (GRCm39) R818L probably damaging Het
Mdn1 T A 4: 32,671,608 (GRCm39) L476Q possibly damaging Het
Mup21 T C 4: 62,066,202 (GRCm39) E178G probably benign Het
Myg1 A G 15: 102,240,288 (GRCm39) N38S probably benign Het
Ncam1 A T 9: 49,416,779 (GRCm39) D837E probably benign Het
Ncam2 C T 16: 81,386,679 (GRCm39) P686L possibly damaging Het
Nck2 T C 1: 43,500,231 (GRCm39) probably benign Het
Nfya T C 17: 48,707,563 (GRCm39) probably benign Het
Npat A G 9: 53,482,330 (GRCm39) K1346R probably damaging Het
Odad2 C G 18: 7,181,787 (GRCm39) D846H probably damaging Het
Or12j3 G T 7: 139,952,920 (GRCm39) T201K probably benign Het
Or4a72 T C 2: 89,406,023 (GRCm39) T16A probably damaging Het
Or6c212 A G 10: 129,558,681 (GRCm39) V244A probably benign Het
Pde7b G T 10: 20,288,873 (GRCm39) Q325K probably damaging Het
Pla2r1 A T 2: 60,253,056 (GRCm39) M1345K probably benign Het
Prkcz T C 4: 155,441,946 (GRCm39) D62G probably damaging Het
Pros1 T A 16: 62,723,935 (GRCm39) C228S possibly damaging Het
Ptprc A G 1: 138,006,236 (GRCm39) M782T possibly damaging Het
Rcn1 T C 2: 105,219,518 (GRCm39) D225G probably benign Het
Recql4 G A 15: 76,594,381 (GRCm39) R46C probably damaging Het
Rnf220 C T 4: 117,346,797 (GRCm39) R205Q possibly damaging Het
Samd13 T C 3: 146,368,502 (GRCm39) D11G probably benign Het
Scp2d1 T A 2: 144,666,030 (GRCm39) I123K probably benign Het
Skap1 A T 11: 96,644,870 (GRCm39) Y311F probably damaging Het
Slc2a10 T C 2: 165,356,676 (GRCm39) I112T possibly damaging Het
Slc34a1 G A 13: 24,003,078 (GRCm39) V243M probably benign Het
Slc39a2 G A 14: 52,132,711 (GRCm39) G218D probably damaging Het
Sos1 T C 17: 80,742,381 (GRCm39) N382S probably benign Het
Spam1 C T 6: 24,796,655 (GRCm39) T202I probably damaging Het
Tas2r138 T A 6: 40,589,820 (GRCm39) Q142L possibly damaging Het
Tec T A 5: 72,939,365 (GRCm39) R217* probably null Het
Tmeff2 T A 1: 50,969,804 (GRCm39) V90D probably benign Het
Tmem119 T C 5: 113,933,405 (GRCm39) Y132C probably damaging Het
Topbp1 A G 9: 103,190,035 (GRCm39) I204V probably benign Het
Trappc14 A T 5: 138,260,641 (GRCm39) probably benign Het
Ttn A T 2: 76,601,232 (GRCm39) I17001N probably damaging Het
Vit T A 17: 78,894,270 (GRCm39) M224K probably benign Het
Vmn1r179 T G 7: 23,628,491 (GRCm39) H227Q possibly damaging Het
Vmn1r84 T C 7: 12,095,743 (GRCm39) N305D probably benign Het
Vmn2r61 A G 7: 41,916,520 (GRCm39) N378D probably damaging Het
Vmn2r87 A G 10: 130,314,435 (GRCm39) Y384H probably damaging Het
Wiz C T 17: 32,580,570 (GRCm39) A294T probably benign Het
Xdh C A 17: 74,231,931 (GRCm39) V260L possibly damaging Het
Xirp2 A G 2: 67,343,237 (GRCm39) K1826R probably benign Het
Zfp445 A C 9: 122,681,358 (GRCm39) I861R probably benign Het
Zfp691 T C 4: 119,027,999 (GRCm39) T78A probably benign 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
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
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'- GGCAACTGACTTACTTCGTCC -3'
(R):5'- TTTCCTCCTGGGTAGCCAAC -3'

Sequencing Primer
(F):5'- AAGGATTTCACCCTGAGGC -3'
(R):5'- GCCAACCGCTCTTGTGC -3'
Posted On 2016-04-15