Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01417:Elmo1'

80443

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01417

Quality Score

Status

Chromosome

Chromosomal Location

20274766-20792523 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 20435345 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

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000181429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220751

Coding Region Coverage

Validation Efficiency

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa13	T	A	15: 58,228,043 (GRCm39)		noncoding transcript	Het
Ctdsp2	T	C	10: 126,829,743 (GRCm39)	I125T	probably benign	Het
Dnah7a	T	C	1: 53,623,759 (GRCm39)	K1044E	probably benign	Het
Edem2	T	C	2: 155,570,898 (GRCm39)	Y44C	probably damaging	Het
Flnb	T	C	14: 7,905,513 (GRCm38)	S1088P	probably damaging	Het
Fmnl1	A	G	11: 103,087,520 (GRCm39)		probably benign	Het
Fv1	T	A	4: 147,953,786 (GRCm39)	C117*	probably null	Het
Hmcn1	T	C	1: 150,734,990 (GRCm39)	D174G	probably damaging	Het
Htatip2	G	A	7: 49,420,573 (GRCm39)	V140I	possibly damaging	Het
Mill1	G	T	7: 17,998,708 (GRCm39)	R306L	probably benign	Het
Myoz2	G	A	3: 122,800,081 (GRCm39)	T249I	possibly damaging	Het
Nrdc	T	C	4: 108,858,027 (GRCm39)		probably benign	Het
Or2r3	T	A	6: 42,449,046 (GRCm39)	H22L	probably benign	Het
Pcbp1	T	C	6: 86,502,836 (GRCm39)	H21R	probably damaging	Het
Pdcd2l	A	C	7: 33,892,170 (GRCm39)	L221R	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,566 (GRCm39)	E135G	probably damaging	Het
Rbsn	T	C	6: 92,184,100 (GRCm39)	E71G	possibly damaging	Het
Shc3	T	C	13: 51,585,200 (GRCm39)	R472G	probably benign	Het
Sox8	A	C	17: 25,786,502 (GRCm39)		probably null	Het
Tacr3	G	T	3: 134,535,242 (GRCm39)	W70L	possibly damaging	Het
Tacr3	A	T	3: 134,535,307 (GRCm39)	I92F	possibly damaging	Het
Ubr4	A	G	4: 139,138,111 (GRCm39)	N1156S	probably damaging	Het
Upk3b	T	C	5: 136,067,920 (GRCm39)	I37T	possibly damaging	Het
Vmn1r35	T	A	6: 66,656,191 (GRCm39)	I160F	probably benign	Het
Vps50	T	C	6: 3,522,377 (GRCm39)		probably benign	Het

Other mutations in Elmo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
RF008:Elmo1	UTSW	13	20,458,706 (GRCm39)	missense	probably benign	0.32

Posted On

2013-11-05