Mutagenetix > Incidental Mutations

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

C230095H21Rik, 6330578D22Rik, CED-12

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00814

Quality Score

Status

Chromosome

Chromosomal Location

20090596-20608353 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20286724 bp

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]

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: 138,163,378	R58L	probably damaging	Het
Faim	G	A	9: 98,992,165	G15R	probably damaging	Het
Gria4	A	T	9: 4,472,202	M429K	probably damaging	Het
Hipk2	G	A	6: 38,818,549	R262W	probably damaging	Het
Kif23	A	T	9: 61,937,107	I143K	possibly damaging	Het
Mbtd1	T	A	11: 93,943,840	S615T	possibly damaging	Het
Nlrp9c	C	T	7: 26,384,750	S468N	probably benign	Het
Nt5c2	A	T	19: 46,897,648	D212E	probably benign	Het
Olfr596	A	T	7: 103,309,807	I29L	probably benign	Het
Pck2	T	C	14: 55,548,299		probably benign	Het
Pdcd6ip	T	C	9: 113,687,653	Q230R	probably damaging	Het
Pomk	T	C	8: 25,983,596	T110A	probably benign	Het
Psg23	C	T	7: 18,614,683	W66*	probably null	Het
Rnf144b	T	C	13: 47,220,488		probably benign	Het
Sppl2c	G	A	11: 104,186,979	G202S	possibly damaging	Het
Thnsl2	A	C	6: 71,139,883	L95R	probably damaging	Het
Ttn	A	G	2: 76,807,167	V12248A	probably benign	Het

Other mutations in Elmo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00548:Elmo1	APN	13	20261579	missense	probably benign
IGL00849:Elmo1	APN	13	20582323	nonsense	probably null
IGL01417:Elmo1	APN	13	20251175	critical splice donor site	probably null
IGL01994:Elmo1	APN	13	20342464	missense	probably damaging	0.99
IGL02435:Elmo1	APN	13	20589656	missense	probably damaging	1.00
IGL02605:Elmo1	APN	13	20605202	missense	probably damaging	1.00
IGL02716:Elmo1	APN	13	20449502	missense	probably damaging	0.98
IGL03389:Elmo1	APN	13	20342426	missense	probably damaging	0.98
Debil	UTSW	13	20373161	missense	probably damaging	1.00
Dollie	UTSW	13	20572446	missense	possibly damaging	0.91
Edinburg	UTSW	13	20290383	nonsense	probably null
glasgow	UTSW	13	20589642	critical splice acceptor site	probably null
Golly	UTSW	13	20373116	missense	possibly damaging	0.96
Lockerbie	UTSW	13	20600201	missense	probably damaging	1.00
sesame	UTSW	13	20600212	nonsense	probably null
Tickle	UTSW	13	20280803	splice site	probably null
H8562:Elmo1	UTSW	13	20280863	missense	probably damaging	1.00
R0360:Elmo1	UTSW	13	20564493	nonsense	probably null
R0364:Elmo1	UTSW	13	20564493	nonsense	probably null
R0372:Elmo1	UTSW	13	20572459	critical splice donor site	probably null
R0975:Elmo1	UTSW	13	20251137	missense	probably damaging	0.98
R1167:Elmo1	UTSW	13	20185455	missense	probably damaging	1.00
R1511:Elmo1	UTSW	13	20290477	missense	possibly damaging	0.60
R1671:Elmo1	UTSW	13	20287884	splice site	probably benign
R1677:Elmo1	UTSW	13	20589671	missense	probably benign	0.22
R1868:Elmo1	UTSW	13	20589653	missense	possibly damaging	0.78
R2941:Elmo1	UTSW	13	20600212	nonsense	probably null
R3508:Elmo1	UTSW	13	20605232	missense	probably damaging	1.00
R4344:Elmo1	UTSW	13	20261552	splice site	probably null
R4378:Elmo1	UTSW	13	20373116	missense	possibly damaging	0.96
R4423:Elmo1	UTSW	13	20600212	nonsense	probably null
R4425:Elmo1	UTSW	13	20600212	nonsense	probably null
R4516:Elmo1	UTSW	13	20282914	missense	probably benign	0.11
R4862:Elmo1	UTSW	13	20449512	missense	probably benign
R4990:Elmo1	UTSW	13	20342519	missense	probably damaging	1.00
R4991:Elmo1	UTSW	13	20342519	missense	probably damaging	1.00
R4992:Elmo1	UTSW	13	20342519	missense	probably damaging	1.00
R5197:Elmo1	UTSW	13	20564437	missense	probably benign	0.20
R5269:Elmo1	UTSW	13	20449486	missense	probably benign	0.00
R5386:Elmo1	UTSW	13	20600210	missense	probably benign	0.01
R5471:Elmo1	UTSW	13	20572385	missense	probably benign	0.01
R5922:Elmo1	UTSW	13	20605169	missense	probably damaging	1.00
R5947:Elmo1	UTSW	13	20290383	nonsense	probably null
R6512:Elmo1	UTSW	13	20373161	missense	probably damaging	1.00
R6531:Elmo1	UTSW	13	20572446	missense	possibly damaging	0.91
R7338:Elmo1	UTSW	13	20280812	missense	probably benign	0.37
R7378:Elmo1	UTSW	13	20280935	missense	probably benign	0.00
R7477:Elmo1	UTSW	13	20285319	missense
R7593:Elmo1	UTSW	13	20290440	missense	probably benign
R7721:Elmo1	UTSW	13	20280803	splice site	probably null
R7778:Elmo1	UTSW	13	20589642	critical splice acceptor site	probably null
R8001:Elmo1	UTSW	13	20286732	missense	probably benign	0.05
R8133:Elmo1	UTSW	13	20373086	missense	probably damaging	1.00
R8248:Elmo1	UTSW	13	20600201	missense	probably damaging	1.00
RF008:Elmo1	UTSW	13	20274536	missense	probably benign	0.32

Posted On

2012-12-06