Incidental Mutation 'R0975:Elmo1'
ID 81095
Institutional Source Beutler Lab
Gene Symbol Elmo1
Ensembl Gene ENSMUSG00000041112
Gene Name engulfment and cell motility 1
Synonyms CED-12, C230095H21Rik, 6330578D22Rik
MMRRC Submission 039104-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0975 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 20274766-20792523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20435307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 126 (I126N)
Ref Sequence ENSEMBL: ENSMUSP00000152595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072519] [ENSMUST00000180626]
AlphaFold Q8BPU7
Predicted Effect probably damaging
Transcript: ENSMUST00000072519
AA Change: I126N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: I126N

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: I126N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181429
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220751
Meta Mutation Damage Score 0.8001 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 98% (52/53)
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
Adam34l A G 8: 44,078,155 (GRCm39) F690L probably benign Het
Ampd2 T C 3: 107,984,437 (GRCm39) Y464C probably damaging Het
Arap2 A T 5: 62,888,229 (GRCm39) probably benign Het
Arhgap5 T G 12: 52,563,927 (GRCm39) N299K possibly damaging Het
Atl3 G A 19: 7,498,500 (GRCm39) W210* probably null Het
Bag1 T C 4: 40,937,152 (GRCm39) N320D probably benign Het
Ccdc39 T C 3: 33,898,274 (GRCm39) N24D probably damaging Het
Ccdc88b G A 19: 6,823,993 (GRCm39) P1420L probably damaging Het
Cdr2 G A 7: 120,557,614 (GRCm39) P304S probably benign Het
Col20a1 A T 2: 180,648,619 (GRCm39) I969F possibly damaging Het
Coro1c C G 5: 114,020,182 (GRCm39) R11P probably damaging Het
Cracd T C 5: 77,004,165 (GRCm39) probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Cyp2c67 T G 19: 39,597,622 (GRCm39) K459Q possibly damaging Het
Cyp2c68 T C 19: 39,691,802 (GRCm39) T374A possibly damaging Het
Efcab6 T A 15: 83,857,532 (GRCm39) N289I probably benign Het
Esr2 C T 12: 76,192,082 (GRCm39) M315I possibly damaging Het
Fbxw14 T A 9: 109,100,307 (GRCm39) N449I probably benign Het
Frmpd1 C T 4: 45,279,000 (GRCm39) T575I probably benign Het
Gm14403 T G 2: 177,201,217 (GRCm39) N145K probably damaging Het
Gnl2 A G 4: 124,942,171 (GRCm39) D392G probably damaging Het
Hmcn1 A C 1: 150,453,128 (GRCm39) S5396A probably benign Het
Hoxd12 G T 2: 74,506,278 (GRCm39) R230L probably damaging Het
Khsrp T A 17: 57,334,066 (GRCm39) D154V possibly damaging Het
Klhl28 C T 12: 64,998,462 (GRCm39) R344H possibly damaging Het
Klhl3 C T 13: 58,161,677 (GRCm39) V473M possibly damaging Het
Larp1b A G 3: 40,924,925 (GRCm39) E134G probably damaging Het
Mcm9 G A 10: 53,414,742 (GRCm39) Q113* probably null Het
Mug1 A T 6: 121,855,498 (GRCm39) D944V probably damaging Het
Myh6 A G 14: 55,190,826 (GRCm39) S950P probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Or1n1b C A 2: 36,780,562 (GRCm39) M99I possibly damaging Het
Or5k14 T A 16: 58,693,513 (GRCm39) probably null Het
Plcb4 T C 2: 135,829,832 (GRCm39) probably benign Het
Pomt1 T A 2: 32,143,907 (GRCm39) probably null Het
Prpf8 T C 11: 75,399,500 (GRCm39) probably benign Het
Rad9b C T 5: 122,472,320 (GRCm39) probably null Het
Recql5 A C 11: 115,814,082 (GRCm39) D240E probably damaging Het
Sec31a A C 5: 100,543,763 (GRCm39) probably null Het
Slc5a4b A G 10: 75,917,241 (GRCm39) V265A probably benign Het
Snx29 A T 16: 11,165,735 (GRCm39) D7V possibly damaging Het
Stk31 C G 6: 49,400,343 (GRCm39) D389E probably damaging Het
Tmeff2 T C 1: 50,977,364 (GRCm39) probably benign Het
Tmem131 C T 1: 36,893,966 (GRCm39) A146T probably damaging Het
Tmem63c T A 12: 87,121,843 (GRCm39) probably benign Het
Tonsl T A 15: 76,523,132 (GRCm39) D119V probably damaging Het
Trmt10a G A 3: 137,862,570 (GRCm39) E287K probably benign Het
Vmn1r192 T A 13: 22,371,633 (GRCm39) M196L probably damaging Het
Vmn2r9 T G 5: 108,991,169 (GRCm39) T731P probably damaging Het
Wfdc6b G A 2: 164,455,705 (GRCm39) M11I probably damaging Het
Ypel1 T A 16: 16,925,077 (GRCm39) T32S probably benign Het
Zfp827 A G 8: 79,787,814 (GRCm39) T327A 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
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
RF008:Elmo1 UTSW 13 20,458,706 (GRCm39) missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- AACCTGCTGCTGAAGTGCCTTG -3'
(R):5'- AAGCCACTTTTCCACAGAGTCTGG -3'

Sequencing Primer
(F):5'- cacacacacacactcacac -3'
(R):5'- CAGAGTCTGGTCACAGTCTAGTC -3'
Posted On 2013-11-07