Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Elmo2'

218504

Institutional Source

Beutler Lab

Gene Symbol

Elmo2

Ensembl Gene

ENSMUSG00000017670

Gene Name

engulfment and cell motility 2

Synonyms

CED-12, 1190002F24Rik

MMRRC Submission

038340-MU

Accession Numbers

Essential gene?

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

Stock #

R0046 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

165288031-165326479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 165298726 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 275 (N275I)

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: N275I

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071619
Gene: ENSMUSG00000017670
AA Change: N275I

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
AA Change: N287I

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000073691
Gene: ENSMUSG00000017670
AA Change: N287I

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: N275I

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091887
Gene: ENSMUSG00000017670
AA Change: N275I

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: N275I

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099377
Gene: ENSMUSG00000017670
AA Change: N275I

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: N275I

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099380
Gene: ENSMUSG00000017670
AA Change: N275I

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

unknown
Transcript: ENSMUST00000137188
AA Change: N174I

SMART Domains

Protein: ENSMUSP00000123232
Gene: ENSMUSG00000017670
AA Change: N174I

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

0.1490

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (83/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877	K135*	probably null	Het
Adamts16	A	G	13: 70,763,460	S871P	probably benign	Het
Adcy10	A	T	1: 165,539,834	I558F	probably damaging	Het
Adsl	T	G	15: 80,962,788		probably null	Het
Aldob	T	C	4: 49,543,842	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247	E46G	probably damaging	Het
Ankrd33b	G	A	15: 31,367,337	P19L	probably damaging	Het
Apoa5	T	C	9: 46,269,998	L124S	probably damaging	Het
Atp1a4	A	T	1: 172,240,097	L533Q	probably benign	Het
Atp7b	T	C	8: 22,059,995	T9A	probably benign	Het
Auh	G	A	13: 52,929,385		probably benign	Het
B3gnt3	T	C	8: 71,692,923	Y267C	probably damaging	Het
BC051142	T	C	17: 34,460,121		probably null	Het
Card11	T	C	5: 140,908,524	T117A	possibly damaging	Het
Ccdc39	A	G	3: 33,844,152	F15L	possibly damaging	Het
Chtf18	C	T	17: 25,723,460	R468Q	probably benign	Het
Cntnap5c	T	G	17: 58,359,300	D1108E	probably benign	Het
Col14a1	G	A	15: 55,408,963		probably benign	Het
Col6a6	C	T	9: 105,748,848		probably benign	Het
Col9a3	G	A	2: 180,609,487	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,959,832		probably benign	Het
Cpt2	A	G	4: 107,904,362		probably null	Het
Crebrf	T	A	17: 26,763,334	L565M	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,782,035		noncoding transcript	Het
Dhx9	C	T	1: 153,472,707	V291M	probably benign	Het
Dmxl1	T	A	18: 49,878,082	V1102E	probably benign	Het
Dnah7a	A	T	1: 53,456,874		probably null	Het
Dock4	G	A	12: 40,737,360		probably benign	Het
Dpp3	G	T	19: 4,914,643	N545K	probably damaging	Het
Farp1	A	G	14: 121,255,513	K509R	probably benign	Het
Fat3	T	C	9: 15,965,979	Y3446C	possibly damaging	Het
Fgd2	T	A	17: 29,374,990		probably benign	Het
Flg	T	A	3: 93,277,721		probably benign	Het
Gas2l2	A	T	11: 83,421,910	W859R	probably damaging	Het
Gatm	T	C	2: 122,600,744	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998	I27F	probably damaging	Het
Gsdmc2	C	A	15: 63,827,755		probably benign	Het
Haus5	C	T	7: 30,654,180	V591I	probably benign	Het
Kcnab3	G	A	11: 69,330,227		probably null	Het
Khdrbs2	A	G	1: 32,619,202	D281G	possibly damaging	Het
Krt86	A	T	15: 101,477,402	M393L	probably benign	Het
Limk1	T	C	5: 134,672,761	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,013,155	Y100*	probably null	Het
Mamstr	T	G	7: 45,641,770		probably benign	Het
Man1a	A	G	10: 53,919,187	Y657H	probably damaging	Het
Marf1	G	A	16: 14,111,727	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,683,818	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,525,669	N881I	probably damaging	Het
Nox3	T	C	17: 3,682,961	Y225C	probably benign	Het
Nrp1	C	T	8: 128,500,608		probably benign	Het
Olfr1080	A	G	2: 86,553,632	F164S	probably damaging	Het
Olfr1214	C	T	2: 88,987,349	M284I	probably benign	Het
Olfr1260	C	T	2: 89,978,507	T243I	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr742	T	A	14: 50,516,139	*312K	probably null	Het
Pcdhb13	A	T	18: 37,444,257	M563L	probably benign	Het
Pclo	C	T	5: 14,540,479	T931M	unknown	Het
Peli2	C	T	14: 48,121,202	P16S	possibly damaging	Het
Pfas	G	T	11: 68,990,467	R1025S	probably benign	Het
Pik3c2a	A	T	7: 116,354,072	I1196N	probably damaging	Het
Pmfbp1	A	T	8: 109,535,985		probably benign	Het
Prg4	T	C	1: 150,456,086	T279A	possibly damaging	Het
Psma1	A	T	7: 114,267,205		probably benign	Het
Rab11fip1	A	G	8: 27,153,121	L550P	probably damaging	Het
Rgs12	T	A	5: 34,965,320	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,399,231	H195R	probably damaging	Het
Rnf17	T	C	14: 56,471,373	L750P	probably damaging	Het
Rtcb	T	C	10: 85,957,656	N18D	probably benign	Het
Seh1l	T	C	18: 67,792,016		probably null	Het
Sis	T	G	3: 72,932,094	N813T	probably benign	Het
Sptbn2	T	C	19: 4,745,377		probably benign	Het
Stag3	C	T	5: 138,283,023		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Taok3	C	T	5: 117,272,229	Q829*	probably null	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Ttn	A	G	2: 76,951,542		probably benign	Het
Unc79	A	G	12: 103,125,681	E1756G	probably damaging	Het
Usp35	A	T	7: 97,313,597		probably null	Het
Vmn2r111	A	G	17: 22,548,009	F836L	probably benign	Het
Vmn2r77	A	G	7: 86,801,938	D344G	possibly damaging	Het
Zbtb40	A	G	4: 136,987,278	C1067R	probably 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
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
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'- CCACACCAGTTTTGAGGAGACCAC -3'
(R):5'- ATGCAGGCACCATGACTGGAAG -3'

Sequencing Primer
(F):5'- CAGTTTTGAGGAGACCACTTCAC -3'
(R):5'- CTGGAAGGAAAAGATCCCTGTCC -3'

Posted On

2014-08-12