Mutagenetix > Incidental Mutation

Incidental Mutation 'R4950:Elmo2'

381901

Institutional Source

Beutler Lab

Gene Symbol

Elmo2

Ensembl Gene

ENSMUSG00000017670

Gene Name

engulfment and cell motility 2

Synonyms

CED-12, 1190002F24Rik

MMRRC Submission

042547-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R4950 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

165288031-165326479 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 165314813 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071699] [ENSMUST00000074046] [ENSMUST00000094329] [ENSMUST00000103088] [ENSMUST00000103091] [ENSMUST00000126318] [ENSMUST00000128690] [ENSMUST00000133205]

AlphaFold

Q8BHL5

Predicted Effect

probably null
Transcript: ENSMUST00000071699

SMART Domains

Protein: ENSMUSP00000071619
Gene: ENSMUSG00000017670

Domain	Start	End	E-Value	Type
Pfam:DUF3361	115	272	1.6e-61	PFAM
Pfam:ELMO_CED12	295	474	3.2e-39	PFAM
Pfam:PH_12	541	657	5.4e-33	PFAM
internal_repeat_1	670	688	6.69e-7	PROSPERO

Predicted Effect

probably null
Transcript: ENSMUST00000074046

SMART Domains

Protein: ENSMUSP00000073691
Gene: ENSMUSG00000017670

Domain	Start	End	E-Value	Type
Pfam:DUF3361	114	285	2.7e-75	PFAM
Pfam:ELMO_CED12	304	487	3.7e-48	PFAM
PDB:3A98\|D	535	729	3e-99	PDB
SCOP:d1mai__	552	677	4e-33	SMART
Blast:PH	560	681	2e-82	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000094329

SMART Domains

Protein: ENSMUSP00000091887
Gene: ENSMUSG00000017670

Domain	Start	End	E-Value	Type
Pfam:DUF3361	114	273	5.6e-77	PFAM
Pfam:ELMO_CED12	292	475	3.6e-48	PFAM
PDB:3A98\|D	523	717	2e-99	PDB
SCOP:d1mai__	540	665	5e-33	SMART
Blast:PH	548	669	1e-82	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000103088

SMART Domains

Protein: ENSMUSP00000099377
Gene: ENSMUSG00000017670

Domain	Start	End	E-Value	Type
Pfam:DUF3361	114	273	6.6e-77	PFAM
Pfam:ELMO_CED12	292	475	4.3e-48	PFAM
internal_repeat_1	654	672	6.69e-7	PROSPERO
internal_repeat_1	670	688	6.69e-7	PROSPERO

Predicted Effect

probably null
Transcript: ENSMUST00000103091

SMART Domains

Protein: ENSMUSP00000099380
Gene: ENSMUSG00000017670

Domain	Start	End	E-Value	Type
Pfam:DUF3361	114	273	5.6e-77	PFAM
Pfam:ELMO_CED12	292	475	3.6e-48	PFAM
PDB:3A98\|D	523	717	2e-99	PDB
SCOP:d1mai__	540	665	5e-33	SMART
Blast:PH	548	669	1e-82	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000126318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127496

Predicted Effect

probably benign
Transcript: ENSMUST00000128690

Predicted Effect

probably null
Transcript: ENSMUST00000133205

Predicted Effect

probably null
Transcript: ENSMUST00000137188

SMART Domains

Protein: ENSMUSP00000123232
Gene: ENSMUSG00000017670

Domain	Start	End	E-Value	Type
Pfam:DUF3361	17	172	1.6e-64	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149844

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 92.9%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bpifb9b	A	T	2: 154,311,659	D215V	probably damaging	Het
Cacna1i	A	G	15: 80,368,671	E625G	probably damaging	Het
Cage1	C	T	13: 38,023,326	S181N	possibly damaging	Het
Ccdc36	A	C	9: 108,421,510	S36R	probably damaging	Het
Ccdc73	A	C	2: 104,992,366	I887L	probably benign	Het
Cfap65	T	A	1: 74,906,336	K1408*	probably null	Het
Cngb1	C	A	8: 95,248,507	G654W	probably damaging	Het
Cxcl15	A	T	5: 90,795,245	E35D	possibly damaging	Het
Ddi1	A	G	9: 6,266,073	S99P	probably benign	Het
Disp3	A	T	4: 148,258,126	D622E	possibly damaging	Het
Dnajc22	G	A	15: 99,101,734	V267I	probably benign	Het
Dph5	G	A	3: 115,928,643	G257S	probably benign	Het
Fam186a	T	C	15: 99,941,653	R2237G	unknown	Het
Fez1	G	A	9: 36,867,882	R285Q	probably damaging	Het
Fsip2	A	T	2: 82,946,932	H101L	probably damaging	Het
Fsip2	G	A	2: 82,977,414	C1359Y	probably benign	Het
Fxyd7	G	A	7: 31,047,390	T15I	probably benign	Het
Gpr155	A	T	2: 73,382,185	D31E	probably benign	Het
Irx6	A	T	8: 92,678,800	Y432F	probably damaging	Het
Itih5	A	C	2: 10,235,081	I340L	probably damaging	Het
Lao1	T	C	4: 118,965,375	L164S	probably damaging	Het
Mcoln3	T	C	3: 146,139,519	I490T	probably damaging	Het
Mef2b	T	C	8: 70,167,196	Y311H	probably damaging	Het
Mras	A	T	9: 99,394,484	L111Q	probably damaging	Het
Mrc1	A	G	2: 14,271,280	D475G	probably damaging	Het
Nrcam	T	C	12: 44,598,490	I1155T	probably damaging	Het
Ntrk1	A	G	3: 87,789,611		probably null	Het
Olfr58	G	A	9: 19,783,731	M199I	probably benign	Het
Olfr885	T	C	9: 38,062,001	I227T	probably damaging	Het
Parp9	A	T	16: 35,948,007	I186F	probably damaging	Het
Pcdhac2	T	A	18: 37,145,230	V421E	probably benign	Het
Pck1	T	A	2: 173,154,827	I178K	probably benign	Het
Pde6b	A	G	5: 108,430,703	K836E	probably benign	Het
Ptprd	T	A	4: 76,140,515		probably null	Het
Pwp2	A	G	10: 78,183,006	Y56H	probably benign	Het
Rarb	G	A	14: 16,432,085		probably benign	Het
Rpain	C	G	11: 70,970,921	H50Q	probably benign	Het
Rps9	CTGTTTG	CTG	7: 3,704,759		probably null	Het
Rubcn	A	T	16: 32,843,193	S358T	probably damaging	Het
Ryr2	G	A	13: 11,742,011	R1586C	probably damaging	Het
Slfn9	T	C	11: 82,981,904	I669V	probably benign	Het
Slx1b	T	C	7: 126,691,767		probably benign	Het
Spsb3	T	A	17: 24,887,511		probably benign	Het
Tbx15	A	G	3: 99,326,384	I288V	possibly damaging	Het
Tlr2	C	A	3: 83,837,332	E481D	probably damaging	Het
Trim17	A	T	11: 58,970,428	D253V	probably damaging	Het
Trim69	A	G	2: 122,178,746	D429G	probably damaging	Het
Vstm5	A	G	9: 15,257,794		probably null	Het
Vwa3b	A	G	1: 37,085,332	Q337R	probably benign	Het
Zfp113	T	C	5: 138,145,472	N172S	probably benign	Het
Zfp607a	T	A	7: 27,878,751	H415Q	probably damaging	Het
Zfp87	G	A	13: 67,517,899	T148I	probably benign	Het

Other mutations in Elmo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00796:Elmo2	APN	2	165292014	unclassified	probably benign
IGL01096:Elmo2	APN	2	165296987	unclassified	probably benign
IGL01694:Elmo2	APN	2	165314773	missense	probably benign	0.05
IGL02016:Elmo2	APN	2	165295012	critical splice donor site	probably null
IGL02402:Elmo2	APN	2	165297392	missense	probably damaging	0.97
IGL02808:Elmo2	APN	2	165291707	unclassified	probably benign
IGL03030:Elmo2	APN	2	165294317	missense	possibly damaging	0.93
IGL03117:Elmo2	APN	2	165298653	missense	probably benign	0.01
R0046:Elmo2	UTSW	2	165298726	missense	probably damaging	0.97
R0046:Elmo2	UTSW	2	165298726	missense	probably damaging	0.97
R0278:Elmo2	UTSW	2	165297367	missense	probably damaging	1.00
R0281:Elmo2	UTSW	2	165296890	missense	probably damaging	1.00
R0472:Elmo2	UTSW	2	165298330	missense	probably damaging	0.99
R0570:Elmo2	UTSW	2	165304919	missense	probably benign	0.38
R1799:Elmo2	UTSW	2	165292157	missense	probably damaging	1.00
R1940:Elmo2	UTSW	2	165292050	unclassified	probably benign
R2005:Elmo2	UTSW	2	165298279	missense	probably benign	0.00
R2504:Elmo2	UTSW	2	165298687	missense	probably damaging	0.96
R2915:Elmo2	UTSW	2	165297653	unclassified	probably benign
R3744:Elmo2	UTSW	2	165316002	missense	probably damaging	0.96
R4027:Elmo2	UTSW	2	165294249	nonsense	probably null
R4419:Elmo2	UTSW	2	165311755	splice site	probably null
R4824:Elmo2	UTSW	2	165292002	unclassified	probably benign
R4888:Elmo2	UTSW	2	165295289	missense	probably benign	0.14
R5157:Elmo2	UTSW	2	165291707	unclassified	probably benign
R5535:Elmo2	UTSW	2	165310212	missense	possibly damaging	0.51
R5682:Elmo2	UTSW	2	165297410	missense	probably damaging	1.00
R5840:Elmo2	UTSW	2	165295552	missense	possibly damaging	0.64
R5868:Elmo2	UTSW	2	165294272	missense	possibly damaging	0.89
R7022:Elmo2	UTSW	2	165295041	missense	probably damaging	0.99
R7089:Elmo2	UTSW	2	165304929	missense	possibly damaging	0.78
R7678:Elmo2	UTSW	2	165291744	missense	unknown
R8024:Elmo2	UTSW	2	165291855	missense	unknown
R8290:Elmo2	UTSW	2	165309003	missense	probably damaging	1.00
R9150:Elmo2	UTSW	2	165298687	missense	probably damaging	0.96
R9166:Elmo2	UTSW	2	165290518	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- GGGAAAGCATTCTGGAAGCC -3'
(R):5'- AGCAATGCTTAGGGGACCAG -3'

Sequencing Primer
(F):5'- AAGGTGGTCCCTCTCAGACAC -3'
(R):5'- GACAAGAACAACAGGCAGAAATGTTC -3'

Posted On

2016-04-27