Incidental Mutation 'R7378:Elmo1'
ID 572518
Institutional Source Beutler Lab
Gene Symbol Elmo1
Ensembl Gene ENSMUSG00000041112
Gene Name engulfment and cell motility 1
Synonyms CED-12, C230095H21Rik, 6330578D22Rik
MMRRC Submission 045460-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7378 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 20274766-20792523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20465105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 225 (I225F)
Ref Sequence ENSEMBL: ENSMUSP00000072334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072519] [ENSMUST00000180626]
AlphaFold Q8BPU7
Predicted Effect probably benign
Transcript: ENSMUST00000072519
AA Change: I225F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: I225F

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 benign
Transcript: ENSMUST00000180626
AA Change: I225F

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000221595
Meta Mutation Damage Score 0.0786 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (138/140)
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: 142 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A C 6: 128,523,210 (GRCm39) probably null Het
Aars1 A G 8: 111,768,974 (GRCm39) Y258C probably damaging Het
Acaa2 A T 18: 74,938,943 (GRCm39) Y376F probably benign Het
Adcy1 C T 11: 7,119,543 (GRCm39) S1062F possibly damaging Het
Adgrb3 A T 1: 25,571,000 (GRCm39) C492* probably null Het
Adgrg6 A G 10: 14,411,636 (GRCm39) F22S probably benign Het
Adh1 A G 3: 137,994,648 (GRCm39) probably null Het
Afm T A 5: 90,699,259 (GRCm39) C568S probably benign Het
Ago4 C T 4: 126,405,257 (GRCm39) E439K probably benign Het
Aifm2 T G 10: 61,563,496 (GRCm39) V122G possibly damaging Het
Akap6 A G 12: 53,189,357 (GRCm39) N2257S probably benign Het
Ap3m2 A G 8: 23,294,026 (GRCm39) I8T probably benign Het
Apc2 C A 10: 80,147,228 (GRCm39) L761I probably damaging Het
Asap2 A G 12: 21,162,052 (GRCm39) D3G probably benign Het
Asxl1 T C 2: 153,243,913 (GRCm39) C1489R probably damaging Het
Atm T G 9: 53,364,737 (GRCm39) probably null Het
Bmal1 C A 7: 112,898,415 (GRCm39) T281K probably benign Het
Bpifa6 C A 2: 153,828,353 (GRCm39) A153E probably damaging Het
Cav2 A G 6: 17,282,059 (GRCm39) T106A probably benign Het
Cavin4 A G 4: 48,663,631 (GRCm39) N4D probably benign Het
Cenpc1 T C 5: 86,194,358 (GRCm39) N136S probably benign Het
Cfap45 T A 1: 172,365,910 (GRCm39) probably null Het
Col3a1 G A 1: 45,366,807 (GRCm39) probably null Het
Crocc2 C T 1: 93,121,809 (GRCm39) L653F probably damaging Het
Cry2 A G 2: 92,244,009 (GRCm39) L388P probably damaging Het
Cstb T C 10: 78,262,822 (GRCm39) F43S probably damaging Het
Ctcfl A G 2: 172,954,051 (GRCm39) Y349H probably damaging Het
Ctu2 T A 8: 123,208,238 (GRCm39) V485D probably damaging Het
Cwc25 A C 11: 97,638,823 (GRCm39) L367R possibly damaging Het
Dock4 T A 12: 40,838,243 (GRCm39) H1061Q possibly damaging Het
Dpy19l3 C A 7: 35,452,067 (GRCm39) V26L probably benign Het
Efcab3 T C 11: 104,605,528 (GRCm39) I298T probably benign Het
Ep300 T C 15: 81,534,746 (GRCm39) S2268P probably damaging Het
F2r C T 13: 95,754,836 (GRCm39) C16Y probably damaging Het
Fbxo33 C A 12: 59,251,157 (GRCm39) E453* probably null Het
Flot1 A T 17: 36,136,405 (GRCm39) D186V probably damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Fras1 T C 5: 96,744,644 (GRCm39) C560R probably damaging Het
Get3 A T 8: 85,746,492 (GRCm39) F119I probably benign Het
Gfi1 A T 5: 107,871,095 (GRCm39) S165T possibly damaging Het
Gli2 T C 1: 118,776,222 (GRCm39) D400G probably damaging Het
Gm37240 T A 3: 84,879,944 (GRCm39) probably null Het
Gml C T 15: 74,688,970 (GRCm39) V27I possibly damaging Het
Htt A T 5: 34,961,143 (GRCm39) I257F probably benign Het
Hycc2 T C 1: 58,569,193 (GRCm39) K462R probably benign Het
Ier5 C T 1: 154,974,438 (GRCm39) V247M probably damaging Het
Ift46 C T 9: 44,689,892 (GRCm39) probably benign Het
Il12b A G 11: 44,298,721 (GRCm39) T59A probably benign Het
Insr A G 8: 3,248,231 (GRCm39) L438P probably damaging Het
Iqgap2 C T 13: 95,869,398 (GRCm39) probably null Het
Irx4 A T 13: 73,415,672 (GRCm39) T154S possibly damaging Het
Itgbl1 A G 14: 124,094,901 (GRCm39) K309E probably benign Het
Kcns2 T A 15: 34,839,849 (GRCm39) L404* probably null Het
Kif2c T C 4: 117,019,226 (GRCm39) E644G possibly damaging Het
Klhl22 T C 16: 17,594,669 (GRCm39) L266P probably damaging Het
Krt71 T A 15: 101,646,764 (GRCm39) K315* probably null Het
Lca5 T C 9: 83,277,583 (GRCm39) N587S probably benign Het
Lrp1b T A 2: 41,185,681 (GRCm39) M1459L Het
Lrrtm2 T C 18: 35,346,645 (GRCm39) K219R probably damaging Het
Mcmbp T C 7: 128,306,241 (GRCm39) D459G probably damaging Het
Megf8 A G 7: 25,048,367 (GRCm39) H1680R probably damaging Het
Mia3 A G 1: 183,115,629 (GRCm39) S301P probably benign Het
Mtrr A G 13: 68,712,521 (GRCm39) Y622H probably damaging Het
Myo7b T A 18: 32,099,292 (GRCm39) Q1710L probably damaging Het
Nab1 T C 1: 52,520,154 (GRCm39) N276D probably damaging Het
Nalcn C T 14: 123,540,302 (GRCm39) R1127H probably damaging Het
Nbas T A 12: 13,324,220 (GRCm39) I110N probably damaging Het
Nfe2l3 C T 6: 51,434,276 (GRCm39) Q279* probably null Het
Nlrp9c C T 7: 26,064,440 (GRCm39) E963K probably benign Het
Nsmaf A G 4: 6,416,586 (GRCm39) V569A probably benign Het
Or10ak14 T C 4: 118,611,372 (GRCm39) Y123C possibly damaging Het
Or13c3 C T 4: 52,856,421 (GRCm39) V31I probably benign Het
Or52a5b T A 7: 103,417,137 (GRCm39) I156F probably benign Het
Or52n5 A T 7: 104,588,638 (GRCm39) I302F probably benign Het
Or5ac17 T A 16: 59,036,283 (GRCm39) D231V probably benign Het
Or5p4 T C 7: 107,680,399 (GRCm39) S133P not run Het
Or7e166 A T 9: 19,624,183 (GRCm39) D20V probably damaging Het
Or7g32 T A 9: 19,408,398 (GRCm39) M118K probably damaging Het
Or8d1b T A 9: 38,887,017 (GRCm39) V15E probably benign Het
Or8k28 T C 2: 86,286,412 (GRCm39) T68A probably benign Het
Paf1 A G 7: 28,096,353 (GRCm39) Y322C probably damaging Het
Pcdha2 C A 18: 37,072,438 (GRCm39) A23D possibly damaging Het
Pcdhb6 G A 18: 37,468,225 (GRCm39) C382Y probably damaging Het
Pdzd7 C T 19: 45,034,045 (GRCm39) G13D probably damaging Het
Pik3r2 T C 8: 71,222,025 (GRCm39) N586S probably benign Het
Pik3r3 T A 4: 116,128,027 (GRCm39) D119E probably benign Het
Pkd2l1 T A 19: 44,142,154 (GRCm39) I535F probably benign Het
Ppfia3 T C 7: 45,010,870 (GRCm39) probably null Het
Ppl T A 16: 4,930,860 (GRCm39) Q53L possibly damaging Het
Rimbp3 T G 16: 17,029,068 (GRCm39) S831A probably benign Het
Rnps1 A G 17: 24,637,504 (GRCm39) T49A unknown Het
Rpl7a T A 2: 26,802,019 (GRCm39) probably null Het
Rrm2b T A 15: 37,931,891 (GRCm39) E248D probably benign Het
Sdhaf4 A G 1: 24,035,439 (GRCm39) F70L probably damaging Het
Sel1l3 A T 5: 53,273,751 (GRCm39) S1038R probably benign Het
Selenoo T A 15: 88,973,681 (GRCm39) F124I probably benign Het
Setbp1 A T 18: 78,900,701 (GRCm39) Y989N probably damaging Het
Slc1a7 A G 4: 107,859,400 (GRCm39) E163G possibly damaging Het
Slc22a2 T C 17: 12,831,278 (GRCm39) F356S probably damaging Het
Slc24a4 C T 12: 102,205,435 (GRCm39) P378L probably benign Het
Slc4a1ap A G 5: 31,684,871 (GRCm39) D169G probably benign Het
Slc4a7 T A 14: 14,757,421 (GRCm38) V422D probably damaging Het
Slitrk6 T C 14: 110,987,295 (GRCm39) Y804C probably damaging Het
Smarcad1 T A 6: 65,087,360 (GRCm39) H906Q probably benign Het
Smn1 A G 13: 100,264,373 (GRCm39) T109A probably damaging Het
Sntb2 A G 8: 107,707,944 (GRCm39) N236S probably damaging Het
Spag9 T A 11: 94,005,177 (GRCm39) probably null Het
Spg11 C A 2: 121,888,910 (GRCm39) G2154W probably damaging Het
Srsf6 T C 2: 162,776,489 (GRCm39) S278P unknown Het
Stag3 G A 5: 138,280,222 (GRCm39) R29H probably benign Het
Stambp C T 6: 83,540,888 (GRCm39) V98I not run Het
Styxl2 G T 1: 165,939,632 (GRCm39) S58* probably null Het
Suco T C 1: 161,689,780 (GRCm39) D89G possibly damaging Het
Suox C T 10: 128,506,910 (GRCm39) V373I probably benign Het
Sv2b T A 7: 74,797,476 (GRCm39) probably null Het
Tatdn2 T C 6: 113,681,662 (GRCm39) L565P probably damaging Het
Tbpl2 T A 2: 23,984,712 (GRCm39) E145V probably benign Het
Tlr1 T C 5: 65,082,571 (GRCm39) I669V not run Het
Tmc1 A T 19: 20,845,753 (GRCm39) F157I probably damaging Het
Tmem26 T G 10: 68,559,922 (GRCm39) probably null Het
Tmem33 A T 5: 67,443,476 (GRCm39) I218F probably benign Het
Tmem94 T A 11: 115,685,000 (GRCm39) D862E probably damaging Het
Tnr T C 1: 159,712,432 (GRCm39) probably null Het
Tnrc6c T C 11: 117,632,606 (GRCm39) S1103P probably benign Het
Tomm70a T A 16: 56,966,407 (GRCm39) Y453* probably null Het
Trabd C A 15: 88,969,493 (GRCm39) R229S possibly damaging Het
Trappc10 T C 10: 78,029,252 (GRCm39) D1095G probably damaging Het
Trim27 A G 13: 21,376,631 (GRCm39) T460A possibly damaging Het
Tsen54 T G 11: 115,712,531 (GRCm39) D433E probably benign Het
Ubap2 A G 4: 41,235,515 (GRCm39) probably null Het
Vat1l A T 8: 115,016,132 (GRCm39) N341Y possibly damaging Het
Vmn2r82 C G 10: 79,232,276 (GRCm39) Y758* probably null Het
Vps16 T G 2: 130,280,099 (GRCm39) V108G probably damaging Het
Vps53 T A 11: 75,967,900 (GRCm39) I585F possibly damaging Het
Wrnip1 G A 13: 33,000,264 (GRCm39) V424M probably benign Het
Yif1a G A 19: 5,139,818 (GRCm39) V88M possibly damaging Het
Zfat T C 15: 68,052,969 (GRCm39) Y275C probably damaging Het
Zfhx3 A G 8: 109,519,880 (GRCm39) E334G probably damaging Het
Zfp277 T C 12: 40,365,852 (GRCm39) D539G possibly damaging Het
Zfp292 A T 4: 34,808,384 (GRCm39) N1558K probably benign Het
Zfp3 A G 11: 70,662,899 (GRCm39) K286R probably benign Het
Zfp366 T C 13: 99,366,023 (GRCm39) C395R probably 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
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'- TTGGCTTCCCATCCTAGCAG -3'
(R):5'- CCAAAGCTGAATGTATCCTGTG -3'

Sequencing Primer
(F):5'- CCTAGCAGGAGTAGTCATTTGTGACC -3'
(R):5'- GCTGAATGTATCCTGTGATTTAGAC -3'
Posted On 2019-09-13