Mutagenetix > Incidental Mutation

Incidental Mutation 'R2915:Elmo2'

254832

Institutional Source

Beutler Lab

Gene Symbol

Elmo2

Ensembl Gene

ENSMUSG00000017670

Gene Name

engulfment and cell motility 2

Synonyms

CED-12, 1190002F24Rik

MMRRC Submission

040502-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R2915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

165288031-165326479 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 165297653 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8BHL5

Predicted Effect

probably benign
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 benign
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 benign
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 benign
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 benign
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

noncoding transcript
Transcript: ENSMUST00000127496

Predicted Effect

probably benign
Transcript: ENSMUST00000137188

SMART Domains

Protein: ENSMUSP00000123232
Gene: ENSMUSG00000017670

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

Predicted Effect

probably benign
Transcript: ENSMUST00000148643

SMART Domains

Protein: ENSMUSP00000117124
Gene: ENSMUSG00000017670

Domain	Start	End	E-Value	Type
Pfam:ELMO_CED12	2	48	9.6e-10	PFAM
Pfam:PH_12	115	237	1.3e-35	PFAM
low complexity region	270	280	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Arhgap11a	A	G	2: 113,833,508	V810A	probably damaging	Het
B3gnt6	T	C	7: 98,193,593	N387D	probably benign	Het
Col5a2	C	G	1: 45,413,496	G358R	probably damaging	Het
Cracr2a	A	G	6: 127,611,505	K209R	probably damaging	Het
Dmkn	A	G	7: 30,765,316	N32S	unknown	Het
Dusp13	T	A	14: 21,740,137	N47I	probably damaging	Het
Ephb6	T	C	6: 41,614,238	F110L	probably damaging	Het
Gabrb2	T	A	11: 42,591,907	N197K	probably benign	Het
Gdnf	T	A	15: 7,815,649	V41E	possibly damaging	Het
Gm21915	A	G	9: 40,670,787	I59V	possibly damaging	Het
Gprin2	C	T	14: 34,195,081	G244D	possibly damaging	Het
Grin2d	T	C	7: 45,833,357		probably benign	Het
Ice2	A	G	9: 69,410,840	D241G	probably benign	Het
Mios	C	T	6: 8,214,935	R44C	possibly damaging	Het
Nlrp5-ps	T	C	7: 14,586,711		noncoding transcript	Het
Nyap2	C	T	1: 81,087,471	R67*	probably null	Het
Olfr1031	T	A	2: 85,992,045	V76E	probably damaging	Het
Olfr1094	T	C	2: 86,829,226	I158T	probably benign	Het
Olfr1306	G	T	2: 111,912,719	D70E	probably damaging	Het
Olfr1428	G	A	19: 12,108,625	P81L	probably benign	Het
Olfr27	G	T	9: 39,144,466	R122L	possibly damaging	Het
Otop2	G	A	11: 115,329,146	A271T	probably benign	Het
Otulin	A	G	15: 27,619,630		probably benign	Het
Pax1	A	G	2: 147,368,428	Y361C	probably damaging	Het
Pcdhb12	A	T	18: 37,437,640	N613I	probably damaging	Het
Plekha5	A	G	6: 140,589,199	K173E	probably damaging	Het
Plin4	T	A	17: 56,104,389	T881S	probably damaging	Het
Poli	A	G	18: 70,522,700		probably null	Het
Prex2	T	A	1: 11,169,853	F898I	probably damaging	Het
Prr14l	A	T	5: 32,829,768	H794Q	probably benign	Het
Prss1	A	T	6: 41,462,611	I93F	probably benign	Het
Ptpro	C	T	6: 137,414,241		probably benign	Het
Rad1	T	C	15: 10,486,642	C42R	probably damaging	Het
Rnf20	A	G	4: 49,638,769	E197G	probably benign	Het
Setx	A	G	2: 29,172,324	E2260G	probably damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Six2	A	G	17: 85,685,188	S296P	probably damaging	Het
Smg1	T	A	7: 118,210,879		probably benign	Het
Spred2	T	C	11: 19,998,215	V41A	probably damaging	Het
Ssu2	A	T	6: 112,377,605	C219*	probably null	Het
Tbc1d9b	T	A	11: 50,149,736	V360D	possibly damaging	Het
Tdrd9	G	A	12: 112,040,461	D920N	probably damaging	Het
Tyrp1	A	G	4: 80,837,455	T154A	possibly damaging	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Wac	A	C	18: 7,926,131	M596L	possibly damaging	Het
Zfhx2	G	T	14: 55,064,557	P1990Q	probably damaging	Het
Zfp853	T	C	5: 143,289,577	E96G	unknown	Het
Zzef1	G	A	11: 72,910,326		probably null	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
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
R4950:Elmo2	UTSW	2	165314813	splice site	probably null
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'- TTCTCCAGCACGATCTACAAG -3'
(R):5'- GGTTAAACACGGCTCAGCTG -3'

Sequencing Primer
(F):5'- AGCACGATCTACAAGCAGAG -3'
(R):5'- ACACGGCTCAGCTGGGAATG -3'

Posted On

2014-12-29