Mutagenetix > Incidental Mutation

Incidental Mutation 'R1167:Elmo1'

101179

Institutional Source

Beutler Lab

Gene Symbol

Elmo1

Ensembl Gene

ENSMUSG00000041112

Gene Name

engulfment and cell motility 1

Synonyms

C230095H21Rik, 6330578D22Rik, CED-12

MMRRC Submission

039240-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1167 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20090596-20608353 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20185455 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 10 (V10A)

Ref Sequence

ENSEMBL: ENSMUSP00000152595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072519] [ENSMUST00000180626] [ENSMUST00000221067]

AlphaFold

Q8BPU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000072519
AA Change: V10A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: V10A

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: V10A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181429

Predicted Effect

probably benign
Transcript: ENSMUST00000221067

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,993,579	D315V	probably damaging	Het
4931440F15Rik	C	T	11: 29,823,567	R630H	probably damaging	Het
Acr	T	C	15: 89,573,974	I286T	probably damaging	Het
Adnp	A	G	2: 168,184,500	S292P	probably benign	Het
Apol6	T	A	15: 77,047,108	Y17*	probably null	Het
Arhgap22	A	G	14: 33,343,307		probably null	Het
Bfar	A	G	16: 13,698,894	K202E	possibly damaging	Het
Bmpr2	A	T	1: 59,859,304	S470C	probably damaging	Het
Cep135	A	G	5: 76,624,637	E623G	probably damaging	Het
Clcn3	A	G	8: 60,922,788		probably null	Het
Clptm1	A	T	7: 19,634,211	M523K	probably damaging	Het
Cyp26b1	A	G	6: 84,584,330	W117R	probably damaging	Het
Dnmt3c	T	G	2: 153,711,781		probably null	Het
Dst	A	G	1: 34,223,858	E2212G	probably damaging	Het
Edrf1	A	G	7: 133,644,066	T238A	probably benign	Het
Ermp1	A	G	19: 29,628,679	S225P	possibly damaging	Het
Fes	A	T	7: 80,383,109	L296Q	probably damaging	Het
Foxn1	A	T	11: 78,359,066	N544K	probably damaging	Het
Gga1	C	G	15: 78,888,170	N223K	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Gm4884	A	T	7: 41,043,912	Q435L	possibly damaging	Het
Gm8444	T	C	15: 81,843,380		probably benign	Het
Gm8882	G	A	6: 132,361,590	P222S	unknown	Het
Ift140	T	G	17: 25,035,745	S131A	probably benign	Het
Ipo4	A	G	14: 55,635,020	L88P	probably damaging	Het
Itgal	G	A	7: 127,300,939	S123N	probably damaging	Het
Kcnn3	C	T	3: 89,564,952	Q344*	probably null	Het
Lrrc8e	A	T	8: 4,235,337	M521L	probably benign	Het
Myocd	G	T	11: 65,196,377	D113E	possibly damaging	Het
Nek4	G	A	14: 30,974,345	R499H	possibly damaging	Het
Notch3	T	C	17: 32,122,745	D2011G	possibly damaging	Het
Ola1	A	G	2: 73,097,194	V347A	probably damaging	Het
Olfr1037	A	G	2: 86,085,291	V162A	probably benign	Het
Olfr1339	C	A	4: 118,734,632	F34L	possibly damaging	Het
Olfr790	G	A	10: 129,501,150	V89I	probably benign	Het
Oxct2b	A	G	4: 123,117,585	T433A	probably damaging	Het
P2ry14	T	C	3: 59,115,131	R312G	probably damaging	Het
Pbrm1	A	G	14: 31,050,142	N398D	probably damaging	Het
Pdc	T	C	1: 150,333,245	Y160H	probably damaging	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pop4	A	T	7: 38,263,269	D190E	probably benign	Het
R3hdm4	A	G	10: 79,912,073		probably null	Het
Rab1a	C	A	11: 20,223,172	T91K	possibly damaging	Het
Rad9a	A	G	19: 4,197,502	V215A	possibly damaging	Het
Rassf3	A	G	10: 121,416,254	V84A	probably damaging	Het
Rftn2	G	A	1: 55,204,299	T270M	probably damaging	Het
Rho	A	G	6: 115,935,423	T100A	probably damaging	Het
Rnft2	T	C	5: 118,228,882	I264V	possibly damaging	Het
Robo3	A	T	9: 37,423,907	Y567*	probably null	Het
Rpp14	T	A	14: 8,083,705		probably null	Het
Rtkn2	T	C	10: 67,997,620	S98P	probably damaging	Het
Ryr2	A	G	13: 11,660,113	V3376A	possibly damaging	Het
Sbf2	A	T	7: 110,364,549	W1030R	probably damaging	Het
Setbp1	G	A	18: 78,857,236	A1072V	possibly damaging	Het
Slc4a10	A	G	2: 62,228,574	K142E	probably damaging	Het
Slc52a2	A	G	15: 76,539,591	E40G	probably benign	Het
Slc8a2	A	G	7: 16,157,387	N784S	possibly damaging	Het
Spats2l	A	T	1: 57,943,111	Q384L	probably damaging	Het
Steap4	A	C	5: 7,976,520	K161T	probably benign	Het
Taf10	T	C	7: 105,743,231	S188G	probably benign	Het
Tbc1d4	C	T	14: 101,608,019	D148N	probably damaging	Het
Tenm2	T	G	11: 36,864,684	K162N	probably benign	Het
Tmem147	A	G	7: 30,727,796	V146A	probably benign	Het
Tnfsf8	A	G	4: 63,837,086	S100P	possibly damaging	Het
Trim56	T	C	5: 137,112,520	Y714C	probably damaging	Het
Ubxn8	A	G	8: 33,641,901	S13P	probably damaging	Het
Usp49	A	G	17: 47,672,226	D52G	possibly damaging	Het
Vegfc	A	C	8: 54,186,043	Y408S	probably benign	Het
Vmn2r77	A	G	7: 86,801,746	N280S	probably benign	Het
Vmn2r8	T	A	5: 108,803,176	L134F	probably benign	Het
Wdfy3	T	A	5: 101,875,931	I2437F	probably benign	Het
Wwc2	A	T	8: 47,858,779	L783*	probably null	Het
Zer1	C	T	2: 30,108,246	R351H	probably benign	Het
Zfp715	A	T	7: 43,298,437	F700I	possibly damaging	Het
Zfp995	G	A	17: 21,879,979	H425Y	probably damaging	Het

Other mutations in Elmo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00548:Elmo1	APN	13	20261579	missense	probably benign
IGL00814:Elmo1	APN	13	20286724	missense	probably damaging	0.97
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
braveheart	UTSW	13	20274621	critical splice donor site	probably benign
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
Wilmut	UTSW	13	20582268	nonsense	probably null
Writhe	UTSW	13	20600259	critical splice donor 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
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
R8685:Elmo1	UTSW	13	20290424	missense	possibly damaging	0.61
R8713:Elmo1	UTSW	13	20274621	critical splice donor site	probably benign
R8888:Elmo1	UTSW	13	20564460	missense	probably damaging	1.00
R8895:Elmo1	UTSW	13	20564460	missense	probably damaging	1.00
R8945:Elmo1	UTSW	13	20582268	nonsense	probably null
R9292:Elmo1	UTSW	13	20600259	critical splice donor site	probably null
R9389:Elmo1	UTSW	13	20185491	missense	probably benign	0.01
R9417:Elmo1	UTSW	13	20572403	missense	possibly damaging	0.57
R9472:Elmo1	UTSW	13	20286727	missense	probably benign	0.31
R9622:Elmo1	UTSW	13	20208140	missense	probably benign	0.01
R9661:Elmo1	UTSW	13	20285361	critical splice donor site	probably null
RF008:Elmo1	UTSW	13	20274536	missense	probably benign	0.32

Predicted Primers

Posted On

2014-01-15