Incidental Mutation 'RF008:Elmo1'
ID 603006
Institutional Source Beutler Lab
Gene Symbol Elmo1
Ensembl Gene ENSMUSG00000041112
Gene Name engulfment and cell motility 1
Synonyms CED-12, C230095H21Rik, 6330578D22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF008 (G1)
Quality Score 166.009
Status Validated
Chromosome 13
Chromosomal Location 20274766-20792523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20458706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 156 (S156T)
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: S156T

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: S156T

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 possibly damaging
Transcript: ENSMUST00000180626
AA Change: S156T

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency 100% (45/45)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp CCACGACC CCACGACCACGACC 16: 56,447,952 (GRCm39) probably benign Het
Acan T G 7: 78,742,148 (GRCm39) V515G possibly damaging Het
Acap3 TGG TGGACTGCTGCATCCAGG 4: 155,989,555 (GRCm39) probably benign Het
AI837181 G GGCT 19: 5,475,266 (GRCm39) probably benign Het
Ankhd1 GGCGGC GGCGGCAGCGGC 18: 36,693,977 (GRCm39) probably benign Het
Anks1b G A 10: 89,869,087 (GRCm39) G49D probably damaging Het
Arid1b GCG GCGACG 17: 5,045,869 (GRCm39) probably benign Het
Arid1b CGG CGGAGG 17: 5,045,870 (GRCm39) probably benign Het
Begain G GCCGCCC 12: 108,999,363 (GRCm39) probably null Het
Cacna1e A G 1: 154,317,882 (GRCm39) M1500T probably damaging Het
Casp16 C A 17: 23,774,201 (GRCm39) probably benign Het
Ccdc174 T C 6: 91,876,347 (GRCm39) S395P possibly damaging Het
Ccdc7a T G 8: 129,691,434 (GRCm39) Q396H probably damaging Het
Ccdc85c CC CCGGC 12: 108,240,887 (GRCm39) probably benign Het
Cemip T C 7: 83,610,843 (GRCm39) T704A probably damaging Het
Cfap68 C T 9: 50,677,067 (GRCm39) R8H probably benign Het
Col7a1 C T 9: 108,793,547 (GRCm39) P1370S unknown Het
Cts8 T C 13: 61,397,102 (GRCm39) I273V probably benign Het
Cyp2c50 T A 19: 40,078,268 (GRCm39) I42N probably damaging Het
Dbt T G 3: 116,341,717 (GRCm39) Y439* probably null Het
Dennd1b T A 1: 138,981,135 (GRCm39) D116E probably damaging Het
Dkk2 T A 3: 131,883,863 (GRCm39) H254Q probably damaging Het
Dpy30 C A 17: 74,622,902 (GRCm39) V27F possibly damaging Het
Efhd2 GCCGCC GCCGCCCCCGCC 4: 141,602,069 (GRCm39) probably benign Het
Eif4g3 A T 4: 137,903,235 (GRCm39) E1020V probably damaging Het
Fancd2os T C 6: 113,574,881 (GRCm39) T42A probably damaging Het
Fbrsl1 TGTGC TGTGCGGGTGTGGGTGC 5: 110,525,984 (GRCm39) probably benign Het
Fsip2 T C 2: 82,808,184 (GRCm39) V1501A probably benign Het
Gabrb2 A G 11: 42,517,705 (GRCm39) Y509C probably damaging Het
Gm8369 GTGT GTGTTTGT 19: 11,489,118 (GRCm39) probably null Het
Gpr139 T C 7: 118,744,090 (GRCm39) D165G probably benign Het
Grik2 T C 10: 49,120,480 (GRCm39) E603G probably damaging Het
H13 G A 2: 152,511,589 (GRCm39) E30K probably damaging Het
Ifitm10 T A 7: 141,882,330 (GRCm39) M147L unknown Het
Itpkb C T 1: 180,160,887 (GRCm39) R338W probably damaging Het
Kif1b T A 4: 149,336,195 (GRCm39) probably null Het
Krtap28-10 ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC 1: 83,019,974 (GRCm39) probably benign Het
Krtap28-10 AGCCACCACAGC AGCCACCACAGCCACCGCCACCACAGC 1: 83,020,000 (GRCm39) probably benign Het
Krtap28-10 CAGCCA CAGCCATAGCCA 1: 83,019,849 (GRCm39) probably benign Het
Krtap28-10 AGCCAC AGCCACCGCCAC 1: 83,019,856 (GRCm39) probably benign Het
Las1l AGTGG AGTGGTGG X: 94,984,422 (GRCm39) probably benign Het
Mical2 T C 7: 111,922,833 (GRCm39) Y613H probably damaging Het
Mlf2 C A 6: 124,911,259 (GRCm39) H91Q probably benign Het
Nat9 A T 11: 115,074,212 (GRCm39) I152N probably damaging Het
Or10d4c T C 9: 39,558,559 (GRCm39) M179T probably benign Het
Or4a75 A T 2: 89,447,711 (GRCm39) I275N possibly damaging Het
Pdik1l CACCAC CACCACAACCAC 4: 134,006,822 (GRCm39) probably benign Het
Phldb2 T C 16: 45,583,337 (GRCm39) S1054G probably damaging Het
Pkhd1l1 TTTT TTTTTTTTTTGTTT 15: 44,421,901 (GRCm39) probably benign Het
Plcg2 T A 8: 118,300,263 (GRCm39) probably null Het
Polr1has CACCACCACCACCACCAC CACCACCACCACCACCACCACAACCACCACCACCACCAC 17: 37,275,946 (GRCm39) probably benign Het
Prdm16 T A 4: 154,426,452 (GRCm39) R444S probably damaging Het
Rgs6 T C 12: 83,110,223 (GRCm39) F163L probably damaging Het
Rnaseh2a A T 8: 85,686,687 (GRCm39) L154* probably null Het
Rpp38 A G 2: 3,330,072 (GRCm39) S277P unknown Het
Setd1a GGTAGTGGT GGTAGTGGTTGTAGTGGT 7: 127,384,486 (GRCm39) probably benign Het
Shisa6 CGACAGCAGCAGAG CG 11: 66,416,749 (GRCm39) probably benign Het
Slc27a2 T A 2: 126,395,175 (GRCm39) L34Q possibly damaging Het
Slc7a6 G A 8: 106,922,030 (GRCm39) V386I probably benign Het
Spry1 C T 3: 37,697,264 (GRCm39) T169I possibly damaging Het
Sry TGCTGCTGCTG TGCTGCTGCTGCTG Y: 2,662,826 (GRCm39) probably benign Het
Stk24 A T 14: 121,532,172 (GRCm39) I275N probably benign Het
Strn TC TCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGGC 17: 78,984,716 (GRCm39) probably null Het
Tcp11l2 C A 10: 84,449,388 (GRCm39) P451Q probably damaging Het
Tfeb AGC AGCTGC 17: 48,097,027 (GRCm39) probably benign Het
Trappc9 TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT 15: 72,673,138 (GRCm39) probably benign Het
V1ra8 A G 6: 90,180,591 (GRCm39) T265A probably benign Het
Zfp106 CTCCTGGCAGT CT 2: 120,355,026 (GRCm39) probably benign Het
Zfp612 C A 8: 110,816,193 (GRCm39) H467N probably damaging Het
Zfp777 A T 6: 48,018,982 (GRCm39) Y317* 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
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
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
Predicted Primers PCR Primer
(F):5'- GGTGATTTCGAGTTCCTGCC -3'
(R):5'- ACTCTGGGTTCTTACACGCTAC -3'

Sequencing Primer
(F):5'- GTGATTTCGAGTTCCTGCCCTTTC -3'
(R):5'- GCAATTTTTACACAGCATTTGGGG -3'
Posted On 2019-12-04