Mutagenetix > Incidental Mutation

Incidental Mutation 'R7089:Elmo2'

550061

Institutional Source

Beutler Lab

Gene Symbol

Elmo2

Ensembl Gene

ENSMUSG00000017670

Gene Name

engulfment and cell motility 2

Synonyms

CED-12, 1190002F24Rik

MMRRC Submission

045183-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.233) question?

Stock #

R7089 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

165129951-165168399 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 165146849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 243 (F243I)

Ref Sequence

ENSEMBL: ENSMUSP00000071619 (fasta)

Gene Model

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

AlphaFold

Q8BHL5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071699
AA Change: F243I

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071619
Gene: ENSMUSG00000017670
AA Change: F243I

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: F243I

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073691
Gene: ENSMUSG00000017670
AA Change: F243I

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: F243I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091887
Gene: ENSMUSG00000017670
AA Change: F243I

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: F243I

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099377
Gene: ENSMUSG00000017670
AA Change: F243I

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: F243I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099380
Gene: ENSMUSG00000017670
AA Change: F243I

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

SMART Domains

Protein: ENSMUSP00000123232
Gene: ENSMUSG00000017670
AA Change: F142I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,226,927 (GRCm39)	V494A	probably benign	Het
1700017B05Rik	A	T	9: 57,166,041 (GRCm39)	L111Q	probably damaging	Het
Adgrf4	T	G	17: 42,977,424 (GRCm39)	I640L	possibly damaging	Het
Afdn	T	G	17: 14,111,074 (GRCm39)		probably null	Het
Ammecr1l	A	T	18: 31,894,877 (GRCm39)		probably benign	Het
Aox1	A	T	1: 58,375,808 (GRCm39)	Y879F	probably benign	Het
Arhgap45	G	A	10: 79,862,181 (GRCm39)		probably null	Het
Arpp21	G	T	9: 111,955,514 (GRCm39)	H542N	probably benign	Het
Ccdc192	C	T	18: 57,725,059 (GRCm39)	T96I	probably benign	Het
Cdt1	G	A	8: 123,298,719 (GRCm39)	R452Q	probably damaging	Het
Clcn7	C	T	17: 25,372,667 (GRCm39)	H149Y		Het
Clpp	T	G	17: 57,297,421 (GRCm39)	W32G	probably benign	Het
Dnmt1	G	T	9: 20,819,785 (GRCm39)	L1572M	probably damaging	Het
Drd3	G	T	16: 43,627,741 (GRCm39)	R128S	probably damaging	Het
Endou	G	A	15: 97,618,126 (GRCm39)	P128L	probably benign	Het
Fat3	A	G	9: 15,908,214 (GRCm39)	M2596T	probably benign	Het
Fbxl16	A	G	17: 26,035,703 (GRCm39)	K100R	probably benign	Het
Fbxo10	A	G	4: 45,062,230 (GRCm39)	S99P	possibly damaging	Het
Fez1	A	T	9: 36,778,999 (GRCm39)	R225S	probably benign	Het
Gm14326	A	T	2: 177,588,464 (GRCm39)	H177Q	probably damaging	Het
Gm32742	T	A	9: 51,054,546 (GRCm39)	M1360L	probably benign	Het
Hspg2	T	C	4: 137,271,677 (GRCm39)	V2481A	possibly damaging	Het
Ifnl3	A	G	7: 28,223,283 (GRCm39)	K101E	probably benign	Het
Il15	A	T	8: 83,064,204 (GRCm39)	S77R	probably damaging	Het
Ints13	T	C	6: 146,476,216 (GRCm39)	D95G	probably damaging	Het
Kcmf1	G	A	6: 72,819,929 (GRCm39)	P357S	probably benign	Het
Kcmf1	G	T	6: 72,825,289 (GRCm39)	T268K	probably benign	Het
Kmt2d	A	T	15: 98,748,153 (GRCm39)	I3057N	unknown	Het
Lgi2	A	G	5: 52,695,832 (GRCm39)	F376L	probably damaging	Het
Lrig3	T	G	10: 125,832,993 (GRCm39)	L289R	probably damaging	Het
Mafk	A	G	5: 139,785,876 (GRCm39)	S25G	probably benign	Het
Mpz	T	C	1: 170,987,204 (GRCm39)		probably null	Het
Nalcn	A	C	14: 123,515,761 (GRCm39)	I1680R	probably benign	Het
Or13d1	C	T	4: 52,971,470 (GRCm39)	P283L	probably damaging	Het
Or5ak24	T	A	2: 85,260,902 (GRCm39)	K90N	probably benign	Het
Or5g26	C	T	2: 85,494,518 (GRCm39)	V87M	possibly damaging	Het
Or5p62	A	T	7: 107,771,701 (GRCm39)	N83K	probably benign	Het
Otof	A	C	5: 30,528,912 (GRCm39)	I1827S	possibly damaging	Het
Oxgr1	A	G	14: 120,259,614 (GRCm39)	Y198H	probably damaging	Het
P3h2	T	A	16: 25,784,559 (GRCm39)	N645I	probably damaging	Het
Pbld2	A	G	10: 62,889,691 (GRCm39)	T158A	probably benign	Het
Pdgfrb	C	T	18: 61,206,315 (GRCm39)	R608C	probably damaging	Het
Pdia5	T	C	16: 35,228,049 (GRCm39)	T408A	probably benign	Het
Pik3cg	A	G	12: 32,226,845 (GRCm39)	V1014A	probably benign	Het
Prpf8	A	G	11: 75,399,374 (GRCm39)	T2180A	probably damaging	Het
Rabgap1l	A	T	1: 160,551,742 (GRCm39)	Y245*	probably null	Het
Rerg	T	C	6: 137,044,033 (GRCm39)	T28A	possibly damaging	Het
Rhcg	A	G	7: 79,249,216 (GRCm39)	I335T	probably damaging	Het
Rmnd1	C	T	10: 4,353,873 (GRCm39)	V78I	probably damaging	Het
Ryr2	A	C	13: 11,664,662 (GRCm39)	V3547G	probably benign	Het
Scnn1a	C	A	6: 125,314,770 (GRCm39)	Q324K	probably benign	Het
Serpinb6e	G	A	13: 34,016,698 (GRCm39)	T345I	probably damaging	Het
Smchd1	T	C	17: 71,668,955 (GRCm39)	T1687A	probably benign	Het
Smim45	A	T	15: 82,136,774 (GRCm39)		probably benign	Het
Speer4f2	A	C	5: 17,581,661 (GRCm39)	H201P		Het
Spef2	G	A	15: 9,725,257 (GRCm39)	R167C	probably damaging	Het
Srp68	A	G	11: 116,162,733 (GRCm39)		probably null	Het
Tbc1d14	A	T	5: 36,669,884 (GRCm39)	F455I	probably benign	Het
Tet3	A	G	6: 83,432,006 (GRCm39)	V10A	possibly damaging	Het
Tlr3	A	T	8: 45,850,810 (GRCm39)	S696T	probably benign	Het
Tmem63b	T	C	17: 45,978,709 (GRCm39)	N300S	probably benign	Het
Tmprss11g	T	C	5: 86,637,150 (GRCm39)	I328M	probably damaging	Het
Tpm3	C	T	3: 89,980,029 (GRCm39)		probably benign	Het
Trim28	T	A	7: 12,758,833 (GRCm39)	L63Q	probably damaging	Het
Unc5b	G	A	10: 60,613,265 (GRCm39)	R324C	probably damaging	Het
Vmn1r236	T	A	17: 21,507,204 (GRCm39)	N107K	possibly damaging	Het
Vmn2r88	A	G	14: 51,656,100 (GRCm39)	T770A		Het
Zcchc2	C	A	1: 105,958,211 (GRCm39)	P894Q	probably damaging	Het
Zfhx2	A	G	14: 55,303,229 (GRCm39)	V1585A	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
R7022:Elmo2	UTSW	2	165,136,961 (GRCm39)	missense	probably damaging	0.99
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'- CACTCCCAGTTCATTCCTAAGG -3'
(R):5'- TGCTCGGAATGCTCTTCTGAC -3'

Sequencing Primer
(F):5'- CCTAAGGCTTCCCTAACTTAGG -3'
(R):5'- GAATGCTCTTCTGACGCCGTC -3'

Posted On

2019-05-15