Mutagenetix > Incidental Mutation

Incidental Mutation 'R7022:Elmo2'

545674

Institutional Source

Beutler Lab

Gene Symbol

Elmo2

Ensembl Gene

ENSMUSG00000017670

Gene Name

engulfment and cell motility 2

Synonyms

CED-12, 1190002F24Rik

MMRRC Submission

045123-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

R7022 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

165129951-165168399 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 165136961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 592 (V592M)

Ref Sequence

ENSEMBL: ENSMUSP00000099377 (fasta)

Gene Model

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

AlphaFold

Q8BHL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000071699
AA Change: V592M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071619
Gene: ENSMUSG00000017670
AA Change: V592M

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: V604M

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000073691
Gene: ENSMUSG00000017670
AA Change: V604M

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: V592M

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091887
Gene: ENSMUSG00000017670
AA Change: V592M

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 damaging
Transcript: ENSMUST00000103088
AA Change: V592M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099377
Gene: ENSMUSG00000017670
AA Change: V592M

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: V592M

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099380
Gene: ENSMUSG00000017670
AA Change: V592M

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: ENSMUST00000137188

SMART Domains

Protein: ENSMUSP00000123232
Gene: ENSMUSG00000017670

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000117124
Gene: ENSMUSG00000017670
AA Change: V165M

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

0.1487

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,974,326 (GRCm39)	S203T	probably damaging	Het
Adat1	A	T	8: 112,716,494 (GRCm39)	M76K	probably damaging	Het
Ankrd33	G	C	15: 101,014,780 (GRCm39)	V56L	probably benign	Het
Ascc3	T	A	10: 50,592,725 (GRCm39)	L1134I	possibly damaging	Het
C3	T	G	17: 57,524,286 (GRCm39)	D948A	probably damaging	Het
Ccdc121rt3	A	C	5: 112,503,395 (GRCm39)	M103R	probably benign	Het
Ccdc40	A	G	11: 119,122,612 (GRCm39)	E138G	possibly damaging	Het
Cd80	A	G	16: 38,306,866 (GRCm39)		probably null	Het
Cdca7	T	A	2: 72,309,873 (GRCm39)		probably null	Het
Chit1	A	G	1: 134,079,030 (GRCm39)	S447G	probably benign	Het
Cmya5	C	T	13: 93,205,786 (GRCm39)		probably null	Het
Cnnm2	A	T	19: 46,750,989 (GRCm39)	I260F	probably damaging	Het
Cnnm2	T	A	19: 46,847,379 (GRCm39)		probably null	Het
Col1a2	T	C	6: 4,534,639 (GRCm39)	L881P	unknown	Het
Crebbp	A	T	16: 3,935,187 (GRCm39)	S901T	probably damaging	Het
Dcun1d2	T	C	8: 13,321,637 (GRCm39)	Y158C	probably damaging	Het
Dnhd1	C	T	7: 105,370,005 (GRCm39)	P4477S	probably benign	Het
Donson	A	G	16: 91,478,218 (GRCm39)	Y428H	probably damaging	Het
Dsp	G	T	13: 38,375,716 (GRCm39)	W1167L	probably benign	Het
Enpp3	T	A	10: 24,702,093 (GRCm39)	E60D	probably damaging	Het
Erfl	A	T	7: 24,631,089 (GRCm39)		probably null	Het
Fam83b	TAAGA	T	9: 76,409,394 (GRCm39)		probably null	Het
Fbxo38	A	G	18: 62,669,295 (GRCm39)	C52R	probably damaging	Het
Gm10912	T	C	2: 103,897,055 (GRCm39)	W65R	probably damaging	Het
Gm43518	A	T	5: 124,074,490 (GRCm39)	M44L	probably benign	Het
Gnb1	T	A	4: 155,637,913 (GRCm39)	D212E	probably damaging	Het
Gnl1	A	G	17: 36,299,620 (GRCm39)	N597S	probably damaging	Het
Gprin1	T	G	13: 54,886,855 (GRCm39)	E473A	probably benign	Het
Ighv1-69	T	A	12: 115,586,834 (GRCm39)	M100L	probably benign	Het
Igkv14-100	T	C	6: 68,496,193 (GRCm39)	S29P	probably damaging	Het
Ints6	A	G	14: 62,951,786 (GRCm39)	V232A	probably damaging	Het
Jup	A	G	11: 100,270,379 (GRCm39)	L376P	probably damaging	Het
Kdr	A	T	5: 76,132,920 (GRCm39)	Y119*	probably null	Het
Kif1a	T	G	1: 92,993,820 (GRCm39)	T377P	probably benign	Het
Lama5	C	A	2: 179,822,524 (GRCm39)	V2850L	probably damaging	Het
Lrp2	T	C	2: 69,313,552 (GRCm39)	Y2393C	probably damaging	Het
Mfsd13a	C	T	19: 46,356,763 (GRCm39)	Q255*	probably null	Het
Msh3	A	C	13: 92,372,096 (GRCm39)	D891E	probably damaging	Het
Msl2	A	G	9: 100,957,335 (GRCm39)	N2D	possibly damaging	Het
Myo19	T	C	11: 84,791,373 (GRCm39)	L476P	probably damaging	Het
Nbeal2	G	A	9: 110,467,686 (GRCm39)	R501W	probably damaging	Het
Nfasc	C	A	1: 132,548,787 (GRCm39)	K293N	probably damaging	Het
Npbwr1	A	T	1: 5,987,319 (GRCm39)	L65Q	probably damaging	Het
Nrbp1	T	A	5: 31,401,825 (GRCm39)	D34E	probably damaging	Het
Nup205	T	A	6: 35,220,871 (GRCm39)	V1891D	probably benign	Het
Or51g2	T	A	7: 102,623,175 (GRCm39)	N8I	possibly damaging	Het
Or5g29	T	A	2: 85,420,942 (GRCm39)	D19E	probably benign	Het
Or5k1b	T	C	16: 58,581,482 (GRCm39)	N19S	probably benign	Het
Or8g22	G	T	9: 38,958,379 (GRCm39)	C156*	probably null	Het
Oscp1	G	A	4: 125,976,783 (GRCm39)		probably null	Het
Pcdhgb7	A	G	18: 37,886,086 (GRCm39)	T419A	probably damaging	Het
Pdzph1	T	C	17: 59,281,121 (GRCm39)	D387G	probably benign	Het
Phc1	A	G	6: 122,311,990 (GRCm39)	F56S	probably damaging	Het
Pik3c2g	A	G	6: 139,599,061 (GRCm39)	E59G	possibly damaging	Het
Prickle1	G	T	15: 93,398,752 (GRCm39)	T692K	possibly damaging	Het
Rbm45	T	A	2: 76,206,738 (GRCm39)	L250Q	probably damaging	Het
Ror1	T	A	4: 100,265,108 (GRCm39)	M194K	probably damaging	Het
Rrbp1	T	A	2: 143,799,722 (GRCm39)		probably null	Het
Rundc3b	T	C	5: 8,562,348 (GRCm39)	K340R	probably null	Het
Scn1a	T	A	2: 66,148,243 (GRCm39)	T1101S	probably damaging	Het
Sdk1	C	G	5: 142,080,412 (GRCm39)		probably null	Het
Skic2	A	G	17: 35,064,183 (GRCm39)	F501S	possibly damaging	Het
Slc20a1	T	A	2: 129,041,979 (GRCm39)	M114K	probably damaging	Het
Sorl1	A	C	9: 41,881,047 (GRCm39)	I2158S	probably benign	Het
Strip1	A	T	3: 107,534,111 (GRCm39)	F174L	probably benign	Het
Sucnr1	A	T	3: 59,993,699 (GRCm39)	I76L	probably benign	Het
Syt17	C	T	7: 118,007,242 (GRCm39)	V412I	probably benign	Het
Tie1	T	A	4: 118,346,850 (GRCm39)	H18L	probably benign	Het
Tpp1	T	G	7: 105,398,129 (GRCm39)	K345Q	probably damaging	Het
Trcg1	G	A	9: 57,148,852 (GRCm39)	M141I	possibly damaging	Het
Trpc4ap	T	C	2: 155,499,742 (GRCm39)	N260S	probably benign	Het
Vps41	C	A	13: 19,026,438 (GRCm39)	T512K	possibly damaging	Het
Vps52	A	T	17: 34,178,293 (GRCm39)	M147L	probably benign	Het
Ywhaq	A	G	12: 21,441,752 (GRCm39)		probably benign	Het
Zfp619	A	G	7: 39,184,387 (GRCm39)	N139S	probably benign	Het

Other mutations in Elmo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00796:Elmo2	APN	2	165,133,934 (GRCm39)	unclassified	probably benign
IGL01096:Elmo2	APN	2	165,138,907 (GRCm39)	unclassified	probably benign
IGL01694:Elmo2	APN	2	165,156,693 (GRCm39)	missense	probably benign	0.05
IGL02016:Elmo2	APN	2	165,136,932 (GRCm39)	critical splice donor site	probably null
IGL02402:Elmo2	APN	2	165,139,312 (GRCm39)	missense	probably damaging	0.97
IGL02808:Elmo2	APN	2	165,133,627 (GRCm39)	unclassified	probably benign
IGL03030:Elmo2	APN	2	165,136,237 (GRCm39)	missense	possibly damaging	0.93
IGL03117:Elmo2	APN	2	165,140,573 (GRCm39)	missense	probably benign	0.01
R0046:Elmo2	UTSW	2	165,140,646 (GRCm39)	missense	probably damaging	0.97
R0046:Elmo2	UTSW	2	165,140,646 (GRCm39)	missense	probably damaging	0.97
R0278:Elmo2	UTSW	2	165,139,287 (GRCm39)	missense	probably damaging	1.00
R0281:Elmo2	UTSW	2	165,138,810 (GRCm39)	missense	probably damaging	1.00
R0472:Elmo2	UTSW	2	165,140,250 (GRCm39)	missense	probably damaging	0.99
R0570:Elmo2	UTSW	2	165,146,839 (GRCm39)	missense	probably benign	0.38
R1799:Elmo2	UTSW	2	165,134,077 (GRCm39)	missense	probably damaging	1.00
R1940:Elmo2	UTSW	2	165,133,970 (GRCm39)	unclassified	probably benign
R2005:Elmo2	UTSW	2	165,140,199 (GRCm39)	missense	probably benign	0.00
R2504:Elmo2	UTSW	2	165,140,607 (GRCm39)	missense	probably damaging	0.96
R2915:Elmo2	UTSW	2	165,139,573 (GRCm39)	unclassified	probably benign
R3744:Elmo2	UTSW	2	165,157,922 (GRCm39)	missense	probably damaging	0.96
R4027:Elmo2	UTSW	2	165,136,169 (GRCm39)	nonsense	probably null
R4419:Elmo2	UTSW	2	165,153,675 (GRCm39)	splice site	probably null
R4824:Elmo2	UTSW	2	165,133,922 (GRCm39)	unclassified	probably benign
R4888:Elmo2	UTSW	2	165,137,209 (GRCm39)	missense	probably benign	0.14
R4950:Elmo2	UTSW	2	165,156,733 (GRCm39)	splice site	probably null
R5157:Elmo2	UTSW	2	165,133,627 (GRCm39)	unclassified	probably benign
R5535:Elmo2	UTSW	2	165,152,132 (GRCm39)	missense	possibly damaging	0.51
R5682:Elmo2	UTSW	2	165,139,330 (GRCm39)	missense	probably damaging	1.00
R5840:Elmo2	UTSW	2	165,137,472 (GRCm39)	missense	possibly damaging	0.64
R5868:Elmo2	UTSW	2	165,136,192 (GRCm39)	missense	possibly damaging	0.89
R7089:Elmo2	UTSW	2	165,146,849 (GRCm39)	missense	possibly damaging	0.78
R7678:Elmo2	UTSW	2	165,133,664 (GRCm39)	missense	unknown
R8024:Elmo2	UTSW	2	165,133,775 (GRCm39)	missense	unknown
R8290:Elmo2	UTSW	2	165,150,923 (GRCm39)	missense	probably damaging	1.00
R9150:Elmo2	UTSW	2	165,140,607 (GRCm39)	missense	probably damaging	0.96
R9166:Elmo2	UTSW	2	165,132,438 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- ACTGCCACAACTGGGATTC -3'
(R):5'- CAGCAGCTTCCGGAAAATCG -3'

Sequencing Primer
(F):5'- GGGATTCAGTAACTCTCCCAC -3'
(R):5'- AGCATGGGTAGTCTGCCAG -3'

Posted On

2019-05-13