Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00814:Elmo1'

10466

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 #

IGL00814

Quality Score

Status

Chromosome

Chromosomal Location

20274766-20792523 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20470894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 262 (M262K)

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: M262K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: M262K

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 damaging
Transcript: ENSMUST00000180626
AA Change: M262K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220751

Predicted Effect

unknown
Transcript: ENSMUST00000221595
AA Change: M41K

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cops6	G	T	5: 138,161,640 (GRCm39)	R58L	probably damaging	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Gria4	A	T	9: 4,472,202 (GRCm39)	M429K	probably damaging	Het
Hipk2	G	A	6: 38,795,484 (GRCm39)	R262W	probably damaging	Het
Kif23	A	T	9: 61,844,389 (GRCm39)	I143K	possibly damaging	Het
Mbtd1	T	A	11: 93,834,666 (GRCm39)	S615T	possibly damaging	Het
Nlrp9c	C	T	7: 26,084,175 (GRCm39)	S468N	probably benign	Het
Nt5c2	A	T	19: 46,886,087 (GRCm39)	D212E	probably benign	Het
Or52e19	A	T	7: 102,959,014 (GRCm39)	I29L	probably benign	Het
Pck2	T	C	14: 55,785,756 (GRCm39)		probably benign	Het
Pdcd6ip	T	C	9: 113,516,721 (GRCm39)	Q230R	probably damaging	Het
Pomk	T	C	8: 26,473,624 (GRCm39)	T110A	probably benign	Het
Psg23	C	T	7: 18,348,608 (GRCm39)	W66*	probably null	Het
Rnf144b	T	C	13: 47,373,964 (GRCm39)		probably benign	Het
Sppl2c	G	A	11: 104,077,805 (GRCm39)	G202S	possibly damaging	Het
Thnsl2	A	C	6: 71,116,867 (GRCm39)	L95R	probably damaging	Het
Ttn	A	G	2: 76,637,511 (GRCm39)	V12248A	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
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
RF008:Elmo1	UTSW	13	20,458,706 (GRCm39)	missense	probably benign	0.32

Posted On

2012-12-06