Mutagenetix > Incidental Mutations

Incidental Mutation 'R6340:Elmo3'

513885

Institutional Source

Beutler Lab

Gene Symbol

Elmo3

Ensembl Gene

ENSMUSG00000014791

Gene Name

engulfment and cell motility 3

Synonyms

CED-12

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6340 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105305601-105310760 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105306747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 115 (I115N)

Ref Sequence

ENSEMBL: ENSMUSP00000148820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015003] [ENSMUST00000109375] [ENSMUST00000212033] [ENSMUST00000212046]

AlphaFold

Q8BYZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000015003

SMART Domains

Protein: ENSMUSP00000015003
Gene: ENSMUSG00000014859

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
E2F_TDP	17	83	3.56e-31	SMART
Pfam:E2F_CC-MB	100	196	2.8e-36	PFAM
low complexity region	201	252	N/A	INTRINSIC
low complexity region	360	372	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000093622

Predicted Effect

probably damaging
Transcript: ENSMUST00000109375
AA Change: I132N

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

SMART Domains

Protein: ENSMUSP00000105000
Gene: ENSMUSG00000014791
AA Change: I132N

Domain	Start	End	E-Value	Type
Pfam:DUF3361	115	268	3.8e-55	PFAM
Pfam:ELMO_CED12	291	468	1.1e-42	PFAM
PH	542	665	2.17e0	SMART
low complexity region	694	706	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184892

Predicted Effect

probably damaging
Transcript: ENSMUST00000212033
AA Change: I115N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212046

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212345

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212655

Meta Mutation Damage Score

0.8863

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

98% (41/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	C	T	1: 34,732,223	L1204F	probably damaging	Het
Atp9b	T	C	18: 80,778,900	D495G	probably benign	Het
B020011L13Rik	G	A	1: 117,801,884	V374I	probably benign	Het
Babam1	T	A	8: 71,402,805	V214D	probably damaging	Het
Chpf2	T	C	5: 24,591,775	V573A	probably damaging	Het
Emc1	T	A	4: 139,365,563	Y564N	probably damaging	Het
Fam180a	A	C	6: 35,315,387	L28R	probably damaging	Het
Fiz1	C	T	7: 5,008,401	A373T	possibly damaging	Het
Fnip2	A	G	3: 79,507,845	F243L	probably damaging	Het
Gabra5	A	T	7: 57,413,748	N309K	probably damaging	Het
Gm17654	A	G	14: 43,578,077	L91P	unknown	Het
Gm19684	G	A	17: 36,127,510		probably null	Het
Gm9376	A	T	14: 118,267,257	M34L	unknown	Het
Hmgcr	A	G	13: 96,665,858	F106S	probably damaging	Het
Hydin	T	G	8: 110,354,942		probably null	Het
Igf2bp3	A	G	6: 49,214,459	Y5H	probably damaging	Het
Igsf11	A	G	16: 39,008,974	T77A	probably benign	Het
Il20	A	G	1: 130,908,381	Y142H	probably benign	Het
Macf1	A	T	4: 123,448,249	D2160E	probably benign	Het
Melk	A	G	4: 44,340,633	Y310C	probably damaging	Het
Mep1a	C	T	17: 43,479,058	V454M	probably benign	Het
Mep1a	A	T	17: 43,479,233	N395K	probably benign	Het
Mnt	A	G	11: 74,836,416	K43E	probably damaging	Het
Nrap	A	G	19: 56,347,184	I853T	probably damaging	Het
Ogfrl1	T	G	1: 23,369,863	K427N	probably benign	Het
Olfr341	T	C	2: 36,480,020	T37A	probably benign	Het
Olfr933	T	G	9: 38,975,766	L30R	probably damaging	Het
Pdia4	A	G	6: 47,801,018	S347P	probably benign	Het
Pkd1l1	T	G	11: 8,844,649	Q1837H	probably benign	Het
Pramef6	T	C	4: 143,897,307	N99S	possibly damaging	Het
Pygo1	T	A	9: 72,945,429	N299K	probably damaging	Het
Sirpb1b	A	T	3: 15,548,665	V52E	probably damaging	Het
Tdrd7	T	A	4: 45,994,517	I305N	probably damaging	Het
Trav14-1	T	C	14: 53,554,498	S102P	probably damaging	Het
Tsga10	C	A	1: 37,835,185		probably benign	Het
Uso1	T	A	5: 92,199,852	H837Q	probably benign	Het
Vmn2r82	A	T	10: 79,395,893	R575S	probably benign	Het
Yae1d1	C	A	13: 17,993,276	A11S	probably benign	Het
Zfp277	A	G	12: 40,318,549	I459T	possibly damaging	Het

Other mutations in Elmo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02183:Elmo3	APN	8	105308323	missense	probably benign	0.22
IGL02580:Elmo3	APN	8	105308494	missense	probably damaging	1.00
IGL03126:Elmo3	APN	8	105306381	missense	probably damaging	1.00
IGL03349:Elmo3	APN	8	105306388	missense	possibly damaging	0.95
R0119:Elmo3	UTSW	8	105309768	missense	probably damaging	1.00
R0244:Elmo3	UTSW	8	105309171	missense	probably benign	0.03
R1572:Elmo3	UTSW	8	105308301	missense	probably benign	0.03
R1861:Elmo3	UTSW	8	105308581	missense	probably damaging	1.00
R2143:Elmo3	UTSW	8	105308673	missense	probably damaging	1.00
R2344:Elmo3	UTSW	8	105309161	missense	probably damaging	1.00
R2920:Elmo3	UTSW	8	105308059	missense	possibly damaging	0.61
R3687:Elmo3	UTSW	8	105308836	critical splice donor site	probably null
R3944:Elmo3	UTSW	8	105309220	critical splice donor site	probably null
R4992:Elmo3	UTSW	8	105309501	nonsense	probably null
R5255:Elmo3	UTSW	8	105307353	missense	probably benign	0.08
R5976:Elmo3	UTSW	8	105307647	missense	probably damaging	1.00
R6826:Elmo3	UTSW	8	105306746	missense	probably damaging	1.00
R7541:Elmo3	UTSW	8	105306714	missense	probably damaging	1.00
R7788:Elmo3	UTSW	8	105308244	missense	probably damaging	0.98
R7860:Elmo3	UTSW	8	105309017	missense	probably damaging	1.00
R8553:Elmo3	UTSW	8	105307178	missense	probably benign	0.02
V8831:Elmo3	UTSW	8	105307061	missense	probably benign	0.24
X0060:Elmo3	UTSW	8	105306013	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TCCAGTTGTAGGGGTAACATTCTC -3'
(R):5'- AGGAGATGCTGAGTGTCTCC -3'

Sequencing Primer
(F):5'- GTAGGGGTAACATTCTCTAACCAC -3'
(R):5'- ATGCTGAGTGTCTCCCAGGAC -3'

Posted On

2018-04-27