Mutagenetix > Incidental Mutation

Incidental Mutation 'R8290:Elmo2'

638620

Institutional Source

Beutler Lab

Gene Symbol

Elmo2

Ensembl Gene

ENSMUSG00000017670

Gene Name

engulfment and cell motility 2

Synonyms

CED-12, 1190002F24Rik

MMRRC Submission

067712-MU

Accession Numbers

Essential gene?

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

Stock #

R8290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

165129951-165168399 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 165150923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 196 (I196T)

Ref Sequence

ENSEMBL: ENSMUSP00000071619 (fasta)

Gene Model

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

AlphaFold

Q8BHL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000071699
AA Change: I196T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071619
Gene: ENSMUSG00000017670
AA Change: I196T

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 damaging
Transcript: ENSMUST00000074046
AA Change: I196T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073691
Gene: ENSMUSG00000017670
AA Change: I196T

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 damaging
Transcript: ENSMUST00000094329
AA Change: I196T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091887
Gene: ENSMUSG00000017670
AA Change: I196T

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: I196T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099377
Gene: ENSMUSG00000017670
AA Change: I196T

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 damaging
Transcript: ENSMUST00000103091
AA Change: I196T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099380
Gene: ENSMUSG00000017670
AA Change: I196T

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

probably benign
Transcript: ENSMUST00000133205

Predicted Effect

SMART Domains

Protein: ENSMUSP00000123232
Gene: ENSMUSG00000017670
AA Change: I95T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 87,238,911 (GRCm39)	Y1100N	probably damaging	Het
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,630,002 (GRCm39)	T3576A	probably benign	Het
Adnp2	A	T	18: 80,185,948 (GRCm39)	N8K	probably damaging	Het
Aftph	A	T	11: 20,675,712 (GRCm39)	H632Q	probably benign	Het
Arhgef11	A	T	3: 87,633,275 (GRCm39)	I710F	probably damaging	Het
Atp6v1c2	T	C	12: 17,338,153 (GRCm39)	N341S	possibly damaging	Het
Ccsap	T	G	8: 124,585,986 (GRCm39)	D55A	probably benign	Het
Cdh17	A	G	4: 11,817,037 (GRCm39)	N816S	probably benign	Het
Celf3	A	G	3: 94,386,489 (GRCm39)	I26V	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Chek2	A	G	5: 111,008,766 (GRCm39)	E299G	possibly damaging	Het
Clca3a2	A	G	3: 144,793,719 (GRCm39)	V312A	possibly damaging	Het
Cnn1	A	G	9: 22,012,447 (GRCm39)	K25R	probably benign	Het
Cry1	A	T	10: 84,978,977 (GRCm39)	Y516*	probably null	Het
Dcaf4	T	C	12: 83,588,333 (GRCm39)	S498P	probably benign	Het
Dmgdh	T	C	13: 93,843,244 (GRCm39)	V360A	probably benign	Het
Dnajc18	G	A	18: 35,816,324 (GRCm39)	R205*	probably null	Het
Eif4a2	G	T	16: 22,927,372 (GRCm39)	G22C	probably damaging	Het
Epha3	A	G	16: 63,472,859 (GRCm39)	I342T	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Etf1	G	A	18: 35,064,891 (GRCm39)	P35L	unknown	Het
Etnk2	A	C	1: 133,307,127 (GRCm39)	*386C	probably null	Het
Fgg	A	T	3: 82,920,141 (GRCm39)	I307F	probably benign	Het
Flg2	A	G	3: 93,110,069 (GRCm39)	Q699R	unknown	Het
Foxp4	T	A	17: 48,191,778 (GRCm39)	T120S	unknown	Het
Fzd1	A	G	5: 4,807,060 (GRCm39)	V174A	possibly damaging	Het
Gad1	A	C	2: 70,404,610 (GRCm39)	I167L	probably benign	Het
Gfm2	T	A	13: 97,282,171 (GRCm39)	D55E	probably benign	Het
Grb14	G	T	2: 64,805,929 (GRCm39)	A12E	probably benign	Het
Hnmt	A	C	2: 23,893,896 (GRCm39)	Y199*	probably null	Het
Kit	A	G	5: 75,801,829 (GRCm39)	I615V	probably benign	Het
Kpna6	A	G	4: 129,555,097 (GRCm39)		probably null	Het
Lpxn	C	T	19: 12,810,052 (GRCm39)	R275C	probably damaging	Het
Magi1	C	T	6: 94,260,066 (GRCm39)	G80S	probably damaging	Het
Men1	A	G	19: 6,388,316 (GRCm39)	I312V	probably benign	Het
Msx2	A	G	13: 53,622,528 (GRCm39)	F161L	probably damaging	Het
Mtr	T	C	13: 12,205,139 (GRCm39)	D1107G	probably damaging	Het
Muc4	A	T	16: 32,575,434 (GRCm39)	M1397L	probably benign	Het
Mybpc3	A	G	2: 90,951,473 (GRCm39)	N259S	probably benign	Het
Myo5c	A	G	9: 75,196,178 (GRCm39)	K1242R	probably benign	Het
Myoc	T	C	1: 162,476,601 (GRCm39)	V435A	possibly damaging	Het
Nbea	G	A	3: 55,966,056 (GRCm39)	Q469*	probably null	Het
Ndufa10	A	C	1: 92,390,869 (GRCm39)	M227R	possibly damaging	Het
Obscn	C	T	11: 58,953,536 (GRCm39)	D3831N	probably damaging	Het
Obscn	T	C	11: 59,015,400 (GRCm39)	E1024G	probably damaging	Het
Oma1	T	C	4: 103,176,671 (GRCm39)	L145P	probably damaging	Het
Phf11	T	C	14: 59,485,418 (GRCm39)	Y114C	probably damaging	Het
Phf12	C	A	11: 77,920,465 (GRCm39)	N1000K	probably benign	Het
Plxnb1	G	T	9: 108,938,687 (GRCm39)	A1350S	probably benign	Het
Prkd1	C	T	12: 50,388,799 (GRCm39)	V915I	probably damaging	Het
Prkra	T	A	2: 76,463,982 (GRCm39)	N227Y	probably damaging	Het
Prtg	A	T	9: 72,798,077 (GRCm39)	H681L	probably damaging	Het
Rtn1	T	C	12: 72,355,193 (GRCm39)	K251R	probably benign	Het
Sema6b	A	T	17: 56,431,803 (GRCm39)	V620E	possibly damaging	Het
Senp7	T	A	16: 55,974,000 (GRCm39)	L407*	probably null	Het
Sh3pxd2a	A	T	19: 47,302,575 (GRCm39)	L168Q	probably damaging	Het
Shtn1	A	G	19: 58,988,326 (GRCm39)	L453P	probably damaging	Het
Slc26a6	G	A	9: 108,733,230 (GRCm39)	R43H	probably benign	Het
Stac3	T	C	10: 127,339,229 (GRCm39)		probably null	Het
Taf2	A	G	15: 54,926,416 (GRCm39)	F178S	probably damaging	Het
Tcp10a	G	A	17: 7,601,716 (GRCm39)	E239K	probably benign	Het
Ubox5	A	G	2: 130,442,333 (GRCm39)	V118A	probably damaging	Het
Unc13d	C	A	11: 115,958,973 (GRCm39)	L729F	probably damaging	Het
Vmn1r228	T	C	17: 20,996,724 (GRCm39)	T265A	probably benign	Het
Vmn2r100	G	A	17: 19,751,612 (GRCm39)	V615I	probably damaging	Het
Vmn2r60	T	G	7: 41,791,690 (GRCm39)	C538G	probably damaging	Het
Vmn2r93	A	T	17: 18,524,291 (GRCm39)	N95I	probably damaging	Het
Vsig2	A	G	9: 37,451,264 (GRCm39)	N55S	probably benign	Het
Zfp472	A	G	17: 33,197,088 (GRCm39)	T388A	probably benign	Het
Zfp853	G	A	5: 143,274,826 (GRCm39)	Q214*	probably null	Het
Zfp949	A	G	9: 88,451,293 (GRCm39)	R288G	probably damaging	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
R7022:Elmo2	UTSW	2	165,136,961 (GRCm39)	missense	probably damaging	0.99
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
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'- TACGTATGACAGGAATTGCCAG -3'
(R):5'- AAACCGAATGAGAGCTGCC -3'

Sequencing Primer
(F):5'- TATGACAGGAATTGCCAGGGGAG -3'
(R):5'- AATGAGAGCTGCCTGGGC -3'

Posted On

2020-07-28