Incidental Mutation 'R7721:Elmo1'
ID 628525
Institutional Source Beutler Lab
Gene Symbol Elmo1
Ensembl Gene ENSMUSG00000041112
Gene Name engulfment and cell motility 1
Synonyms CED-12, C230095H21Rik, 6330578D22Rik
MMRRC Submission 045777-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7721 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 20274766-20792523 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 20464973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072519] [ENSMUST00000180626]
AlphaFold Q8BPU7
Predicted Effect probably null
Transcript: ENSMUST00000072519
SMART Domains Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112

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
Predicted Effect probably null
Transcript: ENSMUST00000180626
Predicted Effect probably benign
Transcript: ENSMUST00000221595
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (51/52)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T C 5: 121,784,929 (GRCm39) probably null Het
Adamtsl3 T G 7: 82,255,728 (GRCm39) M1580R possibly damaging Het
Alg9 T C 9: 50,687,942 (GRCm39) I78T probably damaging Het
Ankmy2 G T 12: 36,207,143 (GRCm39) probably benign Het
Ankrd11 G T 8: 123,621,498 (GRCm39) L785M probably damaging Het
Atrnl1 T A 19: 57,684,763 (GRCm39) D796E probably benign Het
C1s2 A G 6: 124,607,017 (GRCm39) V277A possibly damaging Het
Ccdc121rt3 A G 5: 112,503,383 (GRCm39) I107T probably benign Het
Cldn15 A G 5: 136,997,015 (GRCm39) M19V probably benign Het
Cldn23 T G 8: 36,293,417 (GRCm39) S24R possibly damaging Het
Cnr1 T A 4: 33,944,416 (GRCm39) I268N probably damaging Het
Csf2ra A T 19: 61,215,024 (GRCm39) W147R probably damaging Het
Ctsb G T 14: 63,370,765 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,088,874 (GRCm39) M34T probably benign Het
Dmtf1 T C 5: 9,176,564 (GRCm39) I463V probably damaging Het
Dnah7a T A 1: 53,670,842 (GRCm39) D470V probably benign Het
Dtx4 A G 19: 12,459,500 (GRCm39) S435P probably benign Het
Ear2 T A 14: 44,340,495 (GRCm39) M51K probably damaging Het
Efcab3 T A 11: 104,615,366 (GRCm39) L711* probably null Het
Faf1 T A 4: 109,593,794 (GRCm39) I124N probably damaging Het
Gkap1 A C 13: 58,384,799 (GRCm39) probably null Het
Glipr2 T C 4: 43,957,770 (GRCm39) S4P probably benign Het
Gm38119 A T 3: 92,645,337 (GRCm39) C86S unknown Het
Gpr171 T G 3: 59,005,320 (GRCm39) I152L probably benign Het
Hes7 T A 11: 69,012,352 (GRCm39) T9S unknown Het
Homer3 T C 8: 70,743,662 (GRCm39) V180A probably benign Het
Irx1 T A 13: 72,108,176 (GRCm39) M169L probably benign Het
Kap A G 6: 133,828,690 (GRCm39) probably null Het
Mgat5b A G 11: 116,857,627 (GRCm39) M2V Het
Mob4 C T 1: 55,187,479 (GRCm39) Q76* probably null Het
Or10w3 T A 19: 13,704,207 (GRCm39) I194N possibly damaging Het
Or8b47 A T 9: 38,435,013 (GRCm39) probably null Het
Or8g26 A G 9: 39,096,056 (GRCm39) D191G probably benign Het
Pate14 C T 9: 36,549,159 (GRCm39) G34R possibly damaging Het
Pcdha9 A T 18: 37,132,689 (GRCm39) Q586L probably benign Het
Pgk2 T A 17: 40,518,409 (GRCm39) I340F probably benign Het
Prex1 G A 2: 166,419,810 (GRCm39) Q1289* probably null Het
Prr22 A G 17: 57,078,819 (GRCm39) D324G possibly damaging Het
Rab2b A T 14: 52,501,217 (GRCm39) S201T probably benign Het
Rdh1 T A 10: 127,596,121 (GRCm39) probably null Het
Rhbdl1 G T 17: 26,055,123 (GRCm39) N82K probably benign Het
Rspo1 C A 4: 124,885,210 (GRCm39) Q29K possibly damaging Het
Rtp3 A T 9: 110,814,948 (GRCm39) Y472* probably null Het
Senp5 T A 16: 31,809,252 (GRCm39) M1L unknown Het
Slfn4 A T 11: 83,078,389 (GRCm39) probably null Het
Stab1 A G 14: 30,863,413 (GRCm39) V2091A possibly damaging Het
Stk32c A G 7: 138,768,069 (GRCm39) S71P possibly damaging Het
Tpr A G 1: 150,320,180 (GRCm39) T2243A probably benign Het
Tubgcp6 A T 15: 88,985,604 (GRCm39) N1544K probably damaging Het
Uqcc1 T C 2: 155,700,066 (GRCm39) N202S probably benign Het
Vmn2r18 C T 5: 151,510,158 (GRCm39) E72K possibly damaging Het
Zfp654 C A 16: 64,606,570 (GRCm39) C3F probably damaging Het
Zfp804b T C 5: 6,821,263 (GRCm39) E600G possibly damaging 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
R4425: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
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'- GGCAGTCAGTTATTGCTGAGTC -3'
(R):5'- AGTGCCTAGCATGCTTACCC -3'

Sequencing Primer
(F):5'- TTGCTGAGTCATGAGATGAGTAAC -3'
(R):5'- TAGCATGCTTACCCCTGAAGATGAG -3'
Posted On 2020-04-27