Incidental Mutation 'R4425:Elmo1'
ID 328123
Institutional Source Beutler Lab
Gene Symbol Elmo1
Ensembl Gene ENSMUSG00000041112
Gene Name engulfment and cell motility 1
Synonyms CED-12, C230095H21Rik, 6330578D22Rik
MMRRC Submission 041144-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4425 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 20274766-20792523 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to G at 20784382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 646 (Y646*)
Ref Sequence ENSEMBL: ENSMUSP00000072334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072519]
AlphaFold Q8BPU7
Predicted Effect probably null
Transcript: ENSMUST00000072519
AA Change: Y646*
SMART Domains Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: Y646*

DomainStartEndE-ValueType
Pfam:DUF3361 115 280 3.8e-64 PFAM
Pfam:ELMO_CED12 303 481 2.8e-42 PFAM
PH 555 676 2.32e0 SMART
low complexity region 704 717 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired Sertoli cell phagocytosis of apoptotic male germ cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,236,870 (GRCm39) T1456A probably damaging Het
Acad11 T C 9: 103,950,844 (GRCm39) F56S probably damaging Het
Adamts8 A G 9: 30,867,952 (GRCm39) N592S possibly damaging Het
Amh A G 10: 80,642,755 (GRCm39) D313G probably damaging Het
Ampd2 T C 3: 107,994,052 (GRCm39) probably benign Het
Arap3 A G 18: 38,111,653 (GRCm39) L1115P probably damaging Het
Arfgap1 C A 2: 180,622,869 (GRCm39) D327E probably benign Het
Capns2 T A 8: 93,628,252 (GRCm39) I47N possibly damaging Het
Cd163 T C 6: 124,304,862 (GRCm39) S1080P possibly damaging Het
Ceacam10 A T 7: 24,480,433 (GRCm39) Y68F possibly damaging Het
Cep44 G A 8: 56,991,652 (GRCm39) P317S probably benign Het
Cfh A T 1: 140,028,613 (GRCm39) Y688* probably null Het
Chrnb1 A T 11: 69,677,773 (GRCm39) S326R probably damaging Het
Cngb1 C T 8: 96,026,344 (GRCm39) V25M probably damaging Het
Cyp2c50 A T 19: 40,079,136 (GRCm39) N160Y possibly damaging Het
Dalrd3 T C 9: 108,448,800 (GRCm39) probably benign Het
Eef1d C A 15: 75,774,648 (GRCm39) S253I possibly damaging Het
Efl1 G A 7: 82,412,491 (GRCm39) C960Y probably damaging Het
Epb41l2 C A 10: 25,382,078 (GRCm39) D701E possibly damaging Het
Fbxl4 T A 4: 22,422,699 (GRCm39) probably null Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Igkv10-95 A T 6: 68,657,606 (GRCm39) I21F probably damaging Het
Il10rb C A 16: 91,204,603 (GRCm39) N51K possibly damaging Het
Krt78 T C 15: 101,856,375 (GRCm39) T479A probably benign Het
Lrig3 T C 10: 125,849,273 (GRCm39) S998P probably benign Het
Lrrc8c T A 5: 105,755,755 (GRCm39) M510K probably benign Het
Nfrkb G T 9: 31,311,258 (GRCm39) C369F probably damaging Het
Nphp1 T C 2: 127,630,719 (GRCm39) E19G possibly damaging Het
Or10a5 A C 7: 106,635,698 (GRCm39) E112A probably damaging Het
Or4f14b T C 2: 111,775,534 (GRCm39) H89R probably benign Het
Ovol3 A T 7: 29,934,789 (GRCm39) probably null Het
Ppp1r16b C T 2: 158,599,174 (GRCm39) T382I probably benign Het
Rims2 T C 15: 39,301,320 (GRCm39) probably null Het
Sh3rf3 T C 10: 58,919,398 (GRCm39) V505A probably benign Het
Shkbp1 T C 7: 27,042,727 (GRCm39) N570S probably benign Het
Slc35f4 C T 14: 49,556,307 (GRCm39) V149I possibly damaging Het
Snx27 A G 3: 94,469,330 (GRCm39) F4L probably benign Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tagap1 G A 17: 7,223,511 (GRCm39) S395L probably benign Het
Tcstv2b C A 13: 120,373,908 (GRCm39) L127F probably damaging Het
Tek A G 4: 94,751,904 (GRCm39) T1014A probably damaging Het
Top2a A G 11: 98,892,231 (GRCm39) I1077T probably benign Het
Tpo T C 12: 30,154,015 (GRCm39) Y230C probably damaging Het
Trav12-2 A G 14: 53,854,332 (GRCm39) Q102R possibly damaging Het
Ttn G A 2: 76,733,430 (GRCm39) probably benign Het
Vmn1r183 A T 7: 23,754,973 (GRCm39) I259F probably benign Het
Vmn1r228 T C 17: 20,996,861 (GRCm39) E219G probably damaging Het
Vsig8 G T 1: 172,390,714 (GRCm39) G254V probably damaging Het
Vwa8 A G 14: 79,320,246 (GRCm39) I1086V probably benign Het
Zfp423 G A 8: 88,509,601 (GRCm39) H123Y probably damaging Het
Zfp811 A T 17: 33,016,521 (GRCm39) C506* probably null Het
Other mutations in Elmo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00548:Elmo1 APN 13 20,445,749 (GRCm39) missense probably benign
IGL00814:Elmo1 APN 13 20,470,894 (GRCm39) missense probably damaging 0.97
IGL00849:Elmo1 APN 13 20,766,493 (GRCm39) nonsense probably null
IGL01417:Elmo1 APN 13 20,435,345 (GRCm39) critical splice donor site probably null
IGL01994:Elmo1 APN 13 20,526,634 (GRCm39) missense probably damaging 0.99
IGL02435:Elmo1 APN 13 20,773,826 (GRCm39) missense probably damaging 1.00
IGL02605:Elmo1 APN 13 20,789,372 (GRCm39) missense probably damaging 1.00
IGL02716:Elmo1 APN 13 20,633,672 (GRCm39) missense probably damaging 0.98
IGL03389:Elmo1 APN 13 20,526,596 (GRCm39) missense probably damaging 0.98
braveheart UTSW 13 20,458,791 (GRCm39) critical splice donor site probably benign
Debil UTSW 13 20,557,331 (GRCm39) missense probably damaging 1.00
Dollie UTSW 13 20,756,616 (GRCm39) missense possibly damaging 0.91
Edinburg UTSW 13 20,474,553 (GRCm39) nonsense probably null
glasgow UTSW 13 20,773,812 (GRCm39) critical splice acceptor site probably null
Golly UTSW 13 20,557,286 (GRCm39) missense possibly damaging 0.96
Lockerbie UTSW 13 20,784,371 (GRCm39) missense probably damaging 1.00
sesame UTSW 13 20,784,382 (GRCm39) nonsense probably null
Tickle UTSW 13 20,464,973 (GRCm39) splice site probably null
Wilmut UTSW 13 20,766,438 (GRCm39) nonsense probably null
Writhe UTSW 13 20,784,429 (GRCm39) critical splice donor site probably null
H8562:Elmo1 UTSW 13 20,465,033 (GRCm39) missense probably damaging 1.00
R0360:Elmo1 UTSW 13 20,748,663 (GRCm39) nonsense probably null
R0364:Elmo1 UTSW 13 20,748,663 (GRCm39) nonsense probably null
R0372:Elmo1 UTSW 13 20,756,629 (GRCm39) critical splice donor site probably null
R0975:Elmo1 UTSW 13 20,435,307 (GRCm39) missense probably damaging 0.98
R1167:Elmo1 UTSW 13 20,369,625 (GRCm39) missense probably damaging 1.00
R1511:Elmo1 UTSW 13 20,474,647 (GRCm39) missense possibly damaging 0.60
R1671:Elmo1 UTSW 13 20,472,054 (GRCm39) splice site probably benign
R1677:Elmo1 UTSW 13 20,773,841 (GRCm39) missense probably benign 0.22
R1868:Elmo1 UTSW 13 20,773,823 (GRCm39) missense possibly damaging 0.78
R2941:Elmo1 UTSW 13 20,784,382 (GRCm39) nonsense probably null
R3508:Elmo1 UTSW 13 20,789,402 (GRCm39) missense probably damaging 1.00
R4344:Elmo1 UTSW 13 20,445,722 (GRCm39) splice site probably null
R4378:Elmo1 UTSW 13 20,557,286 (GRCm39) missense possibly damaging 0.96
R4423:Elmo1 UTSW 13 20,784,382 (GRCm39) nonsense probably null
R4516:Elmo1 UTSW 13 20,467,084 (GRCm39) missense probably benign 0.11
R4862:Elmo1 UTSW 13 20,633,682 (GRCm39) missense probably benign
R4990:Elmo1 UTSW 13 20,526,689 (GRCm39) missense probably damaging 1.00
R4991:Elmo1 UTSW 13 20,526,689 (GRCm39) missense probably damaging 1.00
R4992:Elmo1 UTSW 13 20,526,689 (GRCm39) missense probably damaging 1.00
R5197:Elmo1 UTSW 13 20,748,607 (GRCm39) missense probably benign 0.20
R5269:Elmo1 UTSW 13 20,633,656 (GRCm39) missense probably benign 0.00
R5386:Elmo1 UTSW 13 20,784,380 (GRCm39) missense probably benign 0.01
R5471:Elmo1 UTSW 13 20,756,555 (GRCm39) missense probably benign 0.01
R5922:Elmo1 UTSW 13 20,789,339 (GRCm39) missense probably damaging 1.00
R5947:Elmo1 UTSW 13 20,474,553 (GRCm39) nonsense probably null
R6512:Elmo1 UTSW 13 20,557,331 (GRCm39) missense probably damaging 1.00
R6531:Elmo1 UTSW 13 20,756,616 (GRCm39) missense possibly damaging 0.91
R7338:Elmo1 UTSW 13 20,464,982 (GRCm39) missense probably benign 0.37
R7378:Elmo1 UTSW 13 20,465,105 (GRCm39) missense probably benign 0.00
R7477:Elmo1 UTSW 13 20,469,489 (GRCm39) missense
R7593:Elmo1 UTSW 13 20,474,610 (GRCm39) missense probably benign
R7721:Elmo1 UTSW 13 20,464,973 (GRCm39) splice site probably null
R7778:Elmo1 UTSW 13 20,773,812 (GRCm39) critical splice acceptor site probably null
R8001:Elmo1 UTSW 13 20,470,902 (GRCm39) missense probably benign 0.05
R8133:Elmo1 UTSW 13 20,557,256 (GRCm39) missense probably damaging 1.00
R8248:Elmo1 UTSW 13 20,784,371 (GRCm39) missense probably damaging 1.00
R8685:Elmo1 UTSW 13 20,474,594 (GRCm39) missense possibly damaging 0.61
R8713:Elmo1 UTSW 13 20,458,791 (GRCm39) critical splice donor site probably benign
R8888:Elmo1 UTSW 13 20,748,630 (GRCm39) missense probably damaging 1.00
R8895:Elmo1 UTSW 13 20,748,630 (GRCm39) missense probably damaging 1.00
R8945:Elmo1 UTSW 13 20,766,438 (GRCm39) nonsense probably null
R9292:Elmo1 UTSW 13 20,784,429 (GRCm39) critical splice donor site probably null
R9389:Elmo1 UTSW 13 20,369,661 (GRCm39) missense probably benign 0.01
R9417:Elmo1 UTSW 13 20,756,573 (GRCm39) missense possibly damaging 0.57
R9472:Elmo1 UTSW 13 20,470,897 (GRCm39) missense probably benign 0.31
R9622:Elmo1 UTSW 13 20,392,310 (GRCm39) missense probably benign 0.01
R9661:Elmo1 UTSW 13 20,469,531 (GRCm39) critical splice donor site probably null
RF008:Elmo1 UTSW 13 20,458,706 (GRCm39) missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- CTGAATGCAGAGGAGGACTC -3'
(R):5'- TCAGCGGCTAAGAAGTTTGAG -3'

Sequencing Primer
(F):5'- AGGAGGACTCACGCTGG -3'
(R):5'- CTGGTGGTTTCCATGTCAACAAGAC -3'
Posted On 2015-07-07