Mutagenetix > Incidental Mutation

Incidental Mutation 'R6826:Elmo3'

534167

Institutional Source

Beutler Lab

Gene Symbol

Elmo3

Ensembl Gene

ENSMUSG00000014791

Gene Name

engulfment and cell motility 3

Synonyms

CED-12

MMRRC Submission

045019-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6826 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106032240-106036625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106033378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 115 (I115F)

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

probably damaging
Transcript: ENSMUST00000109375
AA Change: I132F

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

SMART Domains

Protein: ENSMUSP00000105000
Gene: ENSMUSG00000014791
AA Change: I132F

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

probably damaging
Transcript: ENSMUST00000212033
AA Change: I115F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212046

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 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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,107,431 (GRCm39)	N728S	probably benign	Het
Acaca	T	C	11: 84,086,362 (GRCm39)	S63P	probably damaging	Het
Akr1c12	A	G	13: 4,325,733 (GRCm39)	V120A	probably benign	Het
Ap4b1	G	A	3: 103,720,224 (GRCm39)		probably null	Het
Apol7e	T	A	15: 77,602,491 (GRCm39)	V363D	probably damaging	Het
Bmpr1b	A	T	3: 141,563,167 (GRCm39)	L259Q	probably damaging	Het
Cdhr17	A	G	5: 17,013,292 (GRCm39)	I219V	unknown	Het
Clca3a2	T	C	3: 144,523,815 (GRCm39)	T57A	possibly damaging	Het
Copb1	T	C	7: 113,825,954 (GRCm39)	T677A	probably benign	Het
Crhr2	T	C	6: 55,094,725 (GRCm39)		probably benign	Het
Cyp11a1	A	G	9: 57,932,370 (GRCm39)	T228A	probably damaging	Het
Dnah1	T	C	14: 31,008,247 (GRCm39)	I2084V	probably benign	Het
Dnajc17	T	C	2: 119,011,408 (GRCm39)	K174R	probably damaging	Het
Dnm2	T	A	9: 21,415,767 (GRCm39)	Y646*	probably null	Het
Dock9	G	A	14: 121,860,330 (GRCm39)	P866L	probably damaging	Het
Elmod1	T	C	9: 53,826,883 (GRCm39)	T268A	probably benign	Het
F10	T	C	8: 13,096,165 (GRCm39)		probably null	Het
Fmo4	C	T	1: 162,631,338 (GRCm39)	V210M	probably damaging	Het
Foxred2	G	T	15: 77,831,285 (GRCm39)	H509Q	probably benign	Het
Hyal6	A	G	6: 24,734,371 (GRCm39)	I101M	probably damaging	Het
Igkv5-48	T	C	6: 69,703,584 (GRCm39)	Y107C	probably damaging	Het
Jag1	A	G	2: 136,958,095 (GRCm39)		probably null	Het
Leng8	T	A	7: 4,148,319 (GRCm39)	V697E	probably damaging	Het
Mdga1	T	C	17: 30,189,000 (GRCm39)	N21S	unknown	Het
Midn	T	A	10: 79,989,961 (GRCm39)	C126*	probably null	Het
Mlh3	A	T	12: 85,292,598 (GRCm39)	V1303E	probably benign	Het
Myh4	T	C	11: 67,137,357 (GRCm39)	L526P	probably damaging	Het
Or10ag55-ps1	G	A	2: 87,114,672 (GRCm39)	E13K	probably benign	Het
Or5b3	T	A	19: 13,388,452 (GRCm39)	V173E	probably benign	Het
Pde6b	C	T	5: 108,578,458 (GRCm39)	R799*	probably null	Het
Pde9a	A	G	17: 31,685,414 (GRCm39)	D382G	probably benign	Het
Pdrg1	A	C	2: 152,852,176 (GRCm39)		probably null	Het
Peg10	C	CATCAGGATG	6: 4,756,353 (GRCm39)		probably benign	Het
Ppp1r3a	C	A	6: 14,718,980 (GRCm39)	E645*	probably null	Het
Prrc2b	A	G	2: 32,112,300 (GRCm39)		probably null	Het
Ptprb	T	A	10: 116,153,277 (GRCm39)	M578K	probably benign	Het
Rasgrp3	G	T	17: 75,810,241 (GRCm39)	V314F	probably damaging	Het
Rps9	C	A	7: 3,708,775 (GRCm39)	D84E	probably benign	Het
Sdf2l1	C	G	16: 16,950,158 (GRCm39)	R6P	probably benign	Het
Serpina1e	A	G	12: 103,915,397 (GRCm39)	F270L	probably benign	Het
Slc24a5	G	A	2: 124,910,778 (GRCm39)	V70I	probably benign	Het
Slfn14	C	A	11: 83,172,644 (GRCm39)		probably null	Het
Smcr8	G	T	11: 60,669,688 (GRCm39)	D279Y	possibly damaging	Het
Snx16	A	T	3: 10,503,148 (GRCm39)	V33D	probably damaging	Het
Tesc	A	G	5: 118,194,483 (GRCm39)	T131A	probably damaging	Het
Tnfaip8l3	G	T	9: 53,934,783 (GRCm39)	T64K	possibly damaging	Het
Vmn2r1	T	A	3: 64,012,567 (GRCm39)	Y809*	probably null	Het
Vmn2r25	A	G	6: 123,800,071 (GRCm39)	V757A	probably damaging	Het
Vmn2r3	A	T	3: 64,182,327 (GRCm39)	Y457*	probably null	Het
Wee1	T	C	7: 109,723,870 (GRCm39)		probably null	Het
Wfdc3	C	T	2: 164,576,178 (GRCm39)	G38R	possibly damaging	Het
Zfp541	A	G	7: 15,812,907 (GRCm39)	E520G	probably damaging	Het
Zfp579	G	T	7: 4,997,425 (GRCm39)	A162D	probably benign	Het
Zfp811	A	G	17: 33,016,762 (GRCm39)	F425S	probably damaging	Het

Other mutations in Elmo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02183:Elmo3	APN	8	106,034,955 (GRCm39)	missense	probably benign	0.22
IGL02580:Elmo3	APN	8	106,035,126 (GRCm39)	missense	probably damaging	1.00
IGL03126:Elmo3	APN	8	106,033,013 (GRCm39)	missense	probably damaging	1.00
IGL03349:Elmo3	APN	8	106,033,020 (GRCm39)	missense	possibly damaging	0.95
R0119:Elmo3	UTSW	8	106,036,400 (GRCm39)	missense	probably damaging	1.00
R0244:Elmo3	UTSW	8	106,035,803 (GRCm39)	missense	probably benign	0.03
R1572:Elmo3	UTSW	8	106,034,933 (GRCm39)	missense	probably benign	0.03
R1861:Elmo3	UTSW	8	106,035,213 (GRCm39)	missense	probably damaging	1.00
R2143:Elmo3	UTSW	8	106,035,305 (GRCm39)	missense	probably damaging	1.00
R2344:Elmo3	UTSW	8	106,035,793 (GRCm39)	missense	probably damaging	1.00
R2920:Elmo3	UTSW	8	106,034,691 (GRCm39)	missense	possibly damaging	0.61
R3687:Elmo3	UTSW	8	106,035,468 (GRCm39)	critical splice donor site	probably null
R3944:Elmo3	UTSW	8	106,035,852 (GRCm39)	critical splice donor site	probably null
R4992:Elmo3	UTSW	8	106,036,133 (GRCm39)	nonsense	probably null
R5255:Elmo3	UTSW	8	106,033,985 (GRCm39)	missense	probably benign	0.08
R5976:Elmo3	UTSW	8	106,034,279 (GRCm39)	missense	probably damaging	1.00
R6340:Elmo3	UTSW	8	106,033,379 (GRCm39)	missense	probably damaging	1.00
R7541:Elmo3	UTSW	8	106,033,346 (GRCm39)	missense	probably damaging	1.00
R7788:Elmo3	UTSW	8	106,034,876 (GRCm39)	missense	probably damaging	0.98
R7860:Elmo3	UTSW	8	106,035,649 (GRCm39)	missense	probably damaging	1.00
R8553:Elmo3	UTSW	8	106,033,810 (GRCm39)	missense	probably benign	0.02
R9586:Elmo3	UTSW	8	106,034,760 (GRCm39)	missense	probably damaging	1.00
V8831:Elmo3	UTSW	8	106,033,693 (GRCm39)	missense	probably benign	0.24
X0060:Elmo3	UTSW	8	106,032,645 (GRCm39)	splice site	probably null

Predicted Primers

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

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

Posted On

2018-09-12