Incidental Mutation 'R6304:Elapor1'
ID 509185
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 044380-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R6304 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 108363010-108443852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 108368572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 806 (C806W)
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: C754W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040128
Gene: ENSMUSG00000040412
AA Change: C754W

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 damaging
Transcript: ENSMUST00000106625
AA Change: C856W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102236
Gene: ENSMUSG00000040412
AA Change: C856W

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 damaging
Transcript: ENSMUST00000106626
AA Change: C806W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102237
Gene: ENSMUSG00000040412
AA Change: C806W

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 probably benign
Transcript: ENSMUST00000185128
SMART Domains Protein: ENSMUSP00000138870
Gene: ENSMUSG00000040412

DomainStartEndE-ValueType
low complexity region 25 31 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol9b T A 15: 77,619,504 (GRCm39) V100E probably damaging Het
Bin3 A G 14: 70,374,625 (GRCm39) D218G possibly damaging Het
Cbll1 A G 12: 31,544,588 (GRCm39) probably null Het
Cped1 A T 6: 22,016,922 (GRCm39) R90S probably benign Het
Csmd1 A T 8: 16,108,688 (GRCm39) L1905Q probably damaging Het
Dnai4 T C 4: 102,944,553 (GRCm39) E266G probably benign Het
Etaa1 A C 11: 17,897,505 (GRCm39) M204R probably damaging Het
G6pc1 A G 11: 101,258,735 (GRCm39) D38G probably damaging Het
Gramd4 A G 15: 86,019,120 (GRCm39) E596G possibly damaging Het
Ifna5 T C 4: 88,754,147 (GRCm39) V129A probably benign Het
Igsf9b C T 9: 27,253,871 (GRCm39) R1354W probably benign Het
Kcnh3 T C 15: 99,124,919 (GRCm39) V123A probably benign Het
Kcnh7 A T 2: 62,594,960 (GRCm39) Y703* probably null Het
Kdm2b A G 5: 123,019,807 (GRCm39) S260P probably benign Het
Kdm6b G T 11: 69,295,084 (GRCm39) T1061K unknown Het
Lingo4 G A 3: 94,310,513 (GRCm39) G484R probably damaging Het
Lpar1 T C 4: 58,487,013 (GRCm39) Y86C probably damaging Het
Lrrc10b T C 19: 10,434,342 (GRCm39) Q113R probably benign Het
Lrrc8c A T 5: 105,756,475 (GRCm39) N750I probably benign Het
Miip T C 4: 147,947,540 (GRCm39) M207V probably benign Het
Mtcl2 T C 2: 156,882,684 (GRCm39) N456S possibly damaging Het
Mup4 T C 4: 59,960,084 (GRCm39) H60R possibly damaging Het
Naip5 C T 13: 100,359,674 (GRCm39) A521T possibly damaging Het
Nrp2 T C 1: 62,784,565 (GRCm39) L238P probably damaging Het
Nup155 T C 15: 8,147,526 (GRCm39) S262P probably damaging Het
Or51k1 G A 7: 103,661,238 (GRCm39) L224F probably damaging Het
Osbpl3 A G 6: 50,289,654 (GRCm39) S604P probably damaging Het
Pcdhb6 C T 18: 37,468,974 (GRCm39) R632* probably null Het
Pcdhb9 T A 18: 37,534,420 (GRCm39) V138E probably damaging Het
Pclo A T 5: 14,727,907 (GRCm39) probably benign Het
Phyhipl A G 10: 70,395,387 (GRCm39) probably null Het
Plcg1 A G 2: 160,603,383 (GRCm39) T1185A possibly damaging Het
Pomt1 T A 2: 32,140,802 (GRCm39) L478Q probably damaging Het
Robo2 T A 16: 73,755,196 (GRCm39) Y779F probably damaging Het
Sesn3 A T 9: 14,233,857 (GRCm39) probably null Het
Sh3gl1 A T 17: 56,343,431 (GRCm39) F10Y probably benign Het
Spata31h1 T A 10: 82,126,202 (GRCm39) K2269N possibly damaging Het
Spsb1 C T 4: 149,991,188 (GRCm39) V127I probably benign Het
Taf4b T C 18: 14,940,412 (GRCm39) I297T probably damaging Het
Trim14 C A 4: 46,522,118 (GRCm39) M186I probably benign Het
Ttn G T 2: 76,746,079 (GRCm39) probably benign Het
Ttn A T 2: 76,721,443 (GRCm39) probably benign Het
Usp54 T C 14: 20,611,036 (GRCm39) D1260G possibly damaging Het
Vmn1r3 T A 4: 3,184,975 (GRCm39) T111S probably damaging Het
Vmn2r51 T C 7: 9,832,164 (GRCm39) Q474R 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
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
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'- CGATCGTTTTGCAGATGGTAAC -3'
(R):5'- ACATCTGAGTTAAGGACAGGTTGG -3'

Sequencing Primer
(F):5'- CAGATGGTAACTCTCTGCTCAGG -3'
(R):5'- TTAAGGACAGGTTGGGGGAG -3'
Posted On 2018-04-02