Incidental Mutation 'R7338:Elmo1'
ID 569662
Institutional Source Beutler Lab
Gene Symbol Elmo1
Ensembl Gene ENSMUSG00000041112
Gene Name engulfment and cell motility 1
Synonyms CED-12, C230095H21Rik, 6330578D22Rik
MMRRC Submission 045428-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7338 (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 20464982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 184 (I184L)
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: I184L

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: I184L

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 damaging
Transcript: ENSMUST00000180626
AA Change: I184L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000221595
Meta Mutation Damage Score 0.1028 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (54/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,595,717 (GRCm39) S357P possibly damaging Het
Arhgap28 T C 17: 68,203,106 (GRCm39) R166G probably damaging Het
Bcan T A 3: 87,901,550 (GRCm39) E384V probably damaging Het
Bcl9l A G 9: 44,420,005 (GRCm39) N1137S probably benign Het
Caprin1 A G 2: 103,609,768 (GRCm39) L170S probably benign Het
Card6 C T 15: 5,129,354 (GRCm39) E681K probably benign Het
Catsperb G A 12: 101,447,243 (GRCm39) V248I probably benign Het
Ccnj T A 19: 40,825,477 (GRCm39) H62Q probably damaging Het
Cd180 A C 13: 102,842,936 (GRCm39) I661L probably benign Het
Cdk11b A G 4: 155,732,008 (GRCm39) R473G unknown Het
Cep126 T C 9: 8,099,799 (GRCm39) T912A possibly damaging Het
Chek2 T A 5: 111,021,380 (GRCm39) V530E probably benign Het
Chga G T 12: 102,529,100 (GRCm39) S359I probably damaging Het
Cnrip1 T C 11: 17,004,657 (GRCm39) V69A probably damaging Het
Cyp2a5 A T 7: 26,542,372 (GRCm39) Q458L probably damaging Het
Cyp2j11 T A 4: 96,195,524 (GRCm39) T391S possibly damaging Het
Dhx16 T C 17: 36,199,036 (GRCm39) L794P probably damaging Het
Dscaml1 A G 9: 45,585,802 (GRCm39) T580A probably benign Het
Gabra1 C T 11: 42,073,121 (GRCm39) G51S unknown Het
Gabrr3 C A 16: 59,268,439 (GRCm39) L351I possibly damaging Het
Gbp7 A T 3: 142,243,786 (GRCm39) N111I probably damaging Het
Gjd2 C T 2: 113,841,583 (GRCm39) R298H probably damaging Het
Gm5930 T C 14: 44,573,914 (GRCm39) Y141C probably damaging Het
Grin3a G T 4: 49,771,238 (GRCm39) N511K probably benign Het
Hdac7 T C 15: 97,707,903 (GRCm39) D122G probably benign Het
Ifi204 G A 1: 173,587,703 (GRCm39) T152I possibly damaging Het
Lrrc9 C T 12: 72,510,305 (GRCm39) probably null Het
Med21 T A 6: 146,544,082 (GRCm39) probably benign Het
Mmp19 A T 10: 128,634,952 (GRCm39) T523S probably benign Het
Nav3 G A 10: 109,605,073 (GRCm39) T1000I probably benign Het
Nherf2 T A 17: 24,869,182 (GRCm39) probably benign Het
Nin T C 12: 70,090,838 (GRCm39) D859G Het
Nip7 T G 8: 107,783,916 (GRCm39) L52R possibly damaging Het
Or10d1c A G 9: 38,893,816 (GRCm39) Y175H probably damaging Het
Or5al5 A T 2: 85,961,726 (GRCm39) F94I probably damaging Het
Or6b13 A T 7: 139,782,446 (GRCm39) V79E probably benign Het
Otop1 T A 5: 38,457,547 (GRCm39) Y435* probably null Het
Pak4 A G 7: 28,264,381 (GRCm39) S174P probably benign Het
Pcsk7 G A 9: 45,837,287 (GRCm39) R537Q probably benign Het
Podxl G A 6: 31,505,941 (GRCm39) S34F unknown Het
Prr36 G A 8: 4,266,212 (GRCm39) R113C probably damaging Het
Ptk7 T C 17: 46,890,525 (GRCm39) I436V probably benign Het
Slc13a5 C T 11: 72,157,310 (GRCm39) V28I probably benign Het
Slco6d1 A T 1: 98,349,097 (GRCm39) D56V probably benign Het
Spg11 G A 2: 121,885,858 (GRCm39) R2317W probably damaging Het
Stom T A 2: 35,213,760 (GRCm39) probably null Het
Svs5 T C 2: 164,174,728 (GRCm39) L8P possibly damaging Het
Tmem141 C A 2: 25,511,626 (GRCm39) V39F probably damaging Het
Tmprss6 A G 15: 78,344,019 (GRCm39) L181P probably damaging Het
Tnni3 A G 7: 4,524,379 (GRCm39) S40P probably benign Het
Tubgcp4 A G 2: 121,024,465 (GRCm39) I548V probably benign Het
Twf2 A G 9: 106,081,138 (GRCm39) probably benign Het
Wnt5b C A 6: 119,425,092 (GRCm39) probably null Het
Wrap73 A G 4: 154,237,043 (GRCm39) D210G probably benign Het
Yipf4 T G 17: 74,796,771 (GRCm39) S21A probably benign Het
Zscan20 A G 4: 128,481,943 (GRCm39) M573T probably benign 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
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'- GGCAGTCAGTTATTGCTGAGTC -3'
(R):5'- AGTGCCTAGCATGCTTACCC -3'

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