Mutagenetix > Incidental Mutation

Incidental Mutation 'R8001:Elmo1'

616368

Institutional Source

Beutler Lab

Gene Symbol

Elmo1

Ensembl Gene

ENSMUSG00000041112

Gene Name

engulfment and cell motility 1

Synonyms

C230095H21Rik, 6330578D22Rik, CED-12

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20090596-20608353 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20286732 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 265 (I265V)

Ref Sequence

ENSEMBL: ENSMUSP00000072334 (fasta)

Gene Model

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

AlphaFold

Q8BPU7

Predicted Effect

probably benign
Transcript: ENSMUST00000072519
AA Change: I265V

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: I265V

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 benign
Transcript: ENSMUST00000180626
AA Change: I265V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	A	G	1: 93,154,599	L266P	probably damaging	Het
Acr	A	G	15: 89,573,962	Y282C	probably damaging	Het
Alkbh4	A	G	5: 136,140,269	R136G	probably damaging	Het
Bptf	C	A	11: 107,047,340	E2*	probably null	Het
Cse1l	T	A	2: 166,939,913	F659Y	probably damaging	Het
Ctrc	A	T	4: 141,840,360	L144Q	probably damaging	Het
Erich3	T	C	3: 154,713,916	S19P	probably benign	Het
Hmcn1	A	T	1: 150,664,878	C2893*	probably null	Het
Hnrnpll	G	A	17: 80,038,723	Q370*	probably null	Het
Itpkb	T	C	1: 180,332,494	S62P	probably damaging	Het
Lig3	T	A	11: 82,792,076	C501S	probably benign	Het
Nrxn1	C	T	17: 91,088,536	R64H	possibly damaging	Het
Ogfod2	T	G	5: 124,114,883	C319G	probably damaging	Het
Olfr1474	A	G	19: 13,471,422	I109V	probably benign	Het
Olfr201	T	C	16: 59,269,109	N186S	probably benign	Het
Olfr555	A	T	7: 102,659,034	D71V	probably damaging	Het
Olfr827	A	G	10: 130,210,860	V90A	probably benign	Het
Pabpc6	C	A	17: 9,669,373	R83L	probably damaging	Het
Pcdhgb2	A	T	18: 37,690,634	Q226L	probably benign	Het
Pole	A	T	5: 110,312,734	I1127F	probably damaging	Het
Psg22	A	T	7: 18,719,746	Q161L	possibly damaging	Het
Slc17a7	A	T	7: 45,168,788	T46S	probably benign	Het
Smad4	A	G	18: 73,641,810	S473P	probably damaging	Het
Snap47	T	A	11: 59,438,354	T41S	probably benign	Het
Snx21	T	C	2: 164,786,737	L100P	probably benign	Het
Stc1	T	A	14: 69,038,395	N212K	probably benign	Het
Stk32a	A	T	18: 43,315,144	N396I	possibly damaging	Het
Stox2	G	A	8: 47,186,477	P894L	probably benign	Het
Trav16d-dv11	A	G	14: 53,047,287	M1V	probably null	Het
Trim33	T	C	3: 103,311,515		probably null	Het
Tyrp1	T	C	4: 80,840,670	V260A	probably benign	Het
Ush2a	T	C	1: 188,911,064	Y4208H	probably damaging	Het
Vmn1r25	T	A	6: 57,979,080	K75*	probably null	Het
Vmn2r117	T	A	17: 23,479,407	N64I	possibly damaging	Het
Wdfy4	C	T	14: 32,973,535		probably null	Het
Wnt8a	A	T	18: 34,545,516	I128F	probably damaging	Het
Zc3h7b	C	A	15: 81,779,260	Y484*	probably null	Het
Zfp619	A	G	7: 39,535,221	K225R	probably benign	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
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
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

PCR Primer
(F):5'- CACAGAGAGTCTCAGAGGTGTG -3'
(R):5'- TGCCAGTTCTAAAGCATACTTCC -3'

Sequencing Primer
(F):5'- AGTCTCAGAGGTGTGGGGAC -3'
(R):5'- AAAGCATACTTCCCCTTCCTAGATTG -3'

Posted On

2020-01-23