Mutagenetix > Incidental Mutation

Incidental Mutation 'R5535:Elmo2'

434763

Institutional Source

Beutler Lab

Gene Symbol

Elmo2

Ensembl Gene

ENSMUSG00000017670

Gene Name

engulfment and cell motility 2

Synonyms

CED-12, 1190002F24Rik

MMRRC Submission

043093-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R5535 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

165288031-165326479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 165310212 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 163 (V163A)

Ref Sequence

ENSEMBL: ENSMUSP00000099380 (fasta)

Gene Model

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

AlphaFold

Q8BHL5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071699
AA Change: V163A

PolyPhen 2 Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000071619
Gene: ENSMUSG00000017670
AA Change: V163A

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

possibly damaging
Transcript: ENSMUST00000074046
AA Change: V163A

PolyPhen 2 Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000073691
Gene: ENSMUSG00000017670
AA Change: V163A

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

possibly damaging
Transcript: ENSMUST00000094329
AA Change: V163A

PolyPhen 2 Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000091887
Gene: ENSMUSG00000017670
AA Change: V163A

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

possibly damaging
Transcript: ENSMUST00000103088
AA Change: V163A

PolyPhen 2 Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099377
Gene: ENSMUSG00000017670
AA Change: V163A

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

possibly damaging
Transcript: ENSMUST00000103091
AA Change: V163A

PolyPhen 2 Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099380
Gene: ENSMUSG00000017670
AA Change: V163A

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: ENSMUST00000133205

Predicted Effect

unknown
Transcript: ENSMUST00000137188
AA Change: V62A

SMART Domains

Protein: ENSMUSP00000123232
Gene: ENSMUSG00000017670
AA Change: V62A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149844

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	C	T	9: 119,148,406	G403S	probably damaging	Het
Agbl2	G	A	2: 90,810,006	V699I	probably benign	Het
Amer2	AAGGAGGAGGAGGAG	AAGGAGGAGGAG	14: 60,378,853		probably benign	Het
Bace2	A	T	16: 97,413,425	Q271L	probably damaging	Het
Btn2a2	T	C	13: 23,478,275	K493E	probably benign	Het
Ces3a	T	A	8: 105,051,564	D222E	probably benign	Het
Ckap2l	A	G	2: 129,285,842	C139R	probably benign	Het
Clip4	A	G	17: 71,831,262	H485R	probably benign	Het
Cntfr	T	A	4: 41,663,216	D197V	probably benign	Het
Efcab5	A	G	11: 77,151,921	L2P	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Flrt2	A	G	12: 95,780,426	T513A	probably benign	Het
Gm10801	GT	GTTTTT	2: 98,662,499		probably null	Het
Hectd1	A	T	12: 51,802,326	F332I	probably damaging	Het
Helz	A	G	11: 107,646,120	D947G	probably damaging	Het
Hivep2	T	A	10: 14,131,022	D1121E	probably benign	Het
Hoxa13	GG	GGCG	6: 52,260,540		probably null	Homo
Hoxd13	A	T	2: 74,668,797	Y163F	probably damaging	Het
Immt	C	A	6: 71,852,784	P158Q	probably null	Het
Kcnh5	A	G	12: 75,130,907	S142P	possibly damaging	Het
Lnpep	T	G	17: 17,538,694	H796P	probably benign	Het
Mfhas1	C	A	8: 35,590,269	R633S	possibly damaging	Het
Mmp25	A	G	17: 23,644,760	L32P	probably benign	Het
Myo15b	A	G	11: 115,881,301	D299G	probably damaging	Het
Myo18b	T	C	5: 112,790,042	E1739G	probably damaging	Het
Olfr907	T	A	9: 38,498,998	S110T	probably benign	Het
Parp9	A	G	16: 35,956,825	K147E	probably damaging	Het
Pcdha3	G	T	18: 36,947,936	R577L	probably benign	Het
Plod2	T	A	9: 92,606,569	I637N	probably damaging	Het
Polk	T	G	13: 96,495,497	S243R	probably damaging	Het
Prag1	T	C	8: 36,104,014	S584P	probably benign	Het
Prex1	A	T	2: 166,580,273	V43E	possibly damaging	Het
Rdh10	T	C	1: 16,131,184	Y294H	probably damaging	Het
Rnf126	T	A	10: 79,762,699	I28F	probably damaging	Het
Sdk2	T	A	11: 113,943,158	H66L	possibly damaging	Het
Tet1	G	T	10: 62,832,907	P1431Q	probably damaging	Het
Tmco2	T	A	4: 121,105,993	Q103L	possibly damaging	Het
Ucp3	A	T	7: 100,480,666	R172W	probably benign	Het
Unc79	A	T	12: 103,169,703	I2270F	possibly damaging	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
R4950:Elmo2	UTSW	2	165314813	splice site	probably null
R5157:Elmo2	UTSW	2	165291707	unclassified	probably benign
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'- ATCTGCATAAACCTTTCAGGAGTC -3'
(R):5'- TAGTGTAAGGACCTGGGCTG -3'

Sequencing Primer
(F):5'- AGTCCTGGGAAGATCGCC -3'
(R):5'- TAAGGACCTGGGCTGTGTCC -3'

Posted On

2016-10-24