Mutagenetix > Incidental Mutation

Incidental Mutation 'R7788:Elmo3'

599672

Institutional Source

Beutler Lab

Gene Symbol

Elmo3

Ensembl Gene

ENSMUSG00000014791

Gene Name

engulfment and cell motility 3

Synonyms

CED-12

MMRRC Submission

045844-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7788 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106032240-106036625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106034876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 389 (N389D)

Ref Sequence

ENSEMBL: ENSMUSP00000105000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015003] [ENSMUST00000070508] [ENSMUST00000109375] [ENSMUST00000209964] [ENSMUST00000210412] [ENSMUST00000210801] [ENSMUST00000211199] [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 benign
Transcript: ENSMUST00000070508

SMART Domains

Protein: ENSMUSP00000063248
Gene: ENSMUSG00000041679

Domain	Start	End	E-Value	Type
LRR	42	67	7.15e-2	SMART
LRR	68	93	1.92e-2	SMART
LRR	94	119	1.23e0	SMART
LRR	120	145	1.56e2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109375
AA Change: N389D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105000
Gene: ENSMUSG00000014791
AA Change: N389D

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 benign
Transcript: ENSMUST00000209964

Predicted Effect

probably benign
Transcript: ENSMUST00000210412

Predicted Effect

probably benign
Transcript: ENSMUST00000210801

Predicted Effect

probably benign
Transcript: ENSMUST00000211199

Predicted Effect

probably damaging
Transcript: ENSMUST00000212033
AA Change: N372D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000212046

Meta Mutation Damage Score

0.7690

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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 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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	A	T	14: 68,750,094 (GRCm39)	V442E	possibly damaging	Het
Adgrv1	A	T	13: 81,721,433 (GRCm39)	V715D	probably damaging	Het
Aldh1l1	A	C	6: 90,546,894 (GRCm39)	D399A	probably benign	Het
Ankrd23	T	C	1: 36,570,808 (GRCm39)	N274S	probably damaging	Het
Aopep	A	T	13: 63,304,407 (GRCm39)	H473L	possibly damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Arpc4	A	T	6: 113,362,565 (GRCm39)	M149L	probably benign	Het
Bdp1	T	C	13: 100,191,759 (GRCm39)	T1407A	possibly damaging	Het
Calml3	A	T	13: 3,854,121 (GRCm39)	I28N	probably damaging	Het
Cdhr3	A	G	12: 33,110,319 (GRCm39)	S322P	probably damaging	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Cntn5	A	G	9: 9,704,934 (GRCm39)	S622P	probably benign	Het
Col22a1	A	G	15: 71,824,166 (GRCm39)		probably null	Het
Csf2rb2	A	T	15: 78,177,041 (GRCm39)	I143N	probably benign	Het
Cwh43	T	C	5: 73,572,377 (GRCm39)	L205P	probably damaging	Het
Dennd5b	T	C	6: 148,970,064 (GRCm39)	T52A	probably benign	Het
Dhx40	A	G	11: 86,666,502 (GRCm39)	I597T	possibly damaging	Het
Dnajc21	A	G	15: 10,460,133 (GRCm39)	L268P	probably damaging	Het
Dzip1	A	T	14: 119,120,805 (GRCm39)	D717E	probably benign	Het
Evi2a	T	C	11: 79,418,768 (GRCm39)	E14G	unknown	Het
Fam149a	T	A	8: 45,834,554 (GRCm39)	R82W	probably damaging	Het
Farp1	A	T	14: 121,513,665 (GRCm39)	E820V	probably benign	Het
Fgd5	T	A	6: 91,965,440 (GRCm39)	S400T	possibly damaging	Het
Flnc	G	A	6: 29,456,443 (GRCm39)	V2214I	possibly damaging	Het
Galnt4	C	A	10: 98,944,975 (GRCm39)	N233K	possibly damaging	Het
Gbp5	A	G	3: 142,208,841 (GRCm39)	Y128C	probably damaging	Het
Gm4871	G	A	5: 144,969,420 (GRCm39)	T33I	probably benign	Het
Gm5592	T	C	7: 40,936,118 (GRCm39)	S207P	probably benign	Het
Gtf2ird1	A	T	5: 134,445,985 (GRCm39)	C15*	probably null	Het
Ido2	T	A	8: 25,037,242 (GRCm39)	I155F	probably damaging	Het
Ifi27l2b	A	T	12: 103,423,268 (GRCm39)		probably null	Het
Il15ra	C	T	2: 11,728,404 (GRCm39)	T49I	probably damaging	Het
Itpr3	T	A	17: 27,337,571 (GRCm39)	C2460*	probably null	Het
Kcnj11	T	C	7: 45,749,179 (GRCm39)	N48S	probably damaging	Het
Lmo7	A	C	14: 102,136,012 (GRCm39)	N695T	possibly damaging	Het
Mmp15	C	A	8: 96,094,776 (GRCm39)	H217N	probably damaging	Het
Mtcl2	C	T	2: 156,869,504 (GRCm39)	A1044T	probably benign	Het
Muc21	A	T	17: 35,929,798 (GRCm39)	S1463T	unknown	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Myo5c	A	T	9: 75,186,627 (GRCm39)	D991V	probably damaging	Het
Nfkbid	T	A	7: 30,126,603 (GRCm39)	N396K	probably damaging	Het
Oas1c	A	G	5: 120,939,107 (GRCm39)	F361L	probably benign	Het
Or10aa1	A	G	1: 173,869,650 (GRCm39)	I45V	probably benign	Het
Or1e1b-ps1	A	T	11: 73,845,948 (GRCm39)	Y144F	probably benign	Het
Osbpl9	T	C	4: 108,919,691 (GRCm39)	K606E	probably benign	Het
Pkp2	C	A	16: 16,043,272 (GRCm39)	L111I	probably benign	Het
Pogz	A	G	3: 94,782,544 (GRCm39)	Y635C	probably damaging	Het
Prdx2	A	G	8: 85,698,303 (GRCm39)	T165A	probably benign	Het
Ptcd3	T	C	6: 71,862,541 (GRCm39)	I465V	probably benign	Het
Ptprd	G	A	4: 75,916,841 (GRCm39)	T770I	probably damaging	Het
Rapgef6	A	G	11: 54,585,225 (GRCm39)	Y1541C	probably damaging	Het
Rilpl1	A	T	5: 124,634,200 (GRCm39)		probably null	Het
Rimbp3	T	A	16: 17,030,568 (GRCm39)	Y1331N	probably benign	Het
Sav1	T	C	12: 70,030,995 (GRCm39)	R176G	probably damaging	Het
Sirt5	A	G	13: 43,536,623 (GRCm39)	H219R	probably benign	Het
Skint5	T	G	4: 113,403,715 (GRCm39)	D1169A	unknown	Het
Slfn9	G	T	11: 82,873,467 (GRCm39)	Q479K	possibly damaging	Het
Spata31f1e	A	T	4: 42,793,546 (GRCm39)	H195Q	possibly damaging	Het
Susd4	T	C	1: 182,722,767 (GRCm39)	I483T	possibly damaging	Het
Tmem156	C	T	5: 65,232,912 (GRCm39)	V217I	possibly damaging	Het
Tmem79	A	G	3: 88,239,949 (GRCm39)	Y254H	probably benign	Het
Tmprss2	T	A	16: 97,377,429 (GRCm39)	K223*	probably null	Het
Trav3-1	T	C	14: 52,818,581 (GRCm39)	V85A	probably damaging	Het
Ttn	T	C	2: 76,716,100 (GRCm39)		probably null	Het
Vmn2r22	T	C	6: 123,614,559 (GRCm39)	I344V	not run	Het
Vps13c	A	T	9: 67,847,765 (GRCm39)	M2176L	probably benign	Het
Wdfy3	A	T	5: 101,996,223 (GRCm39)	V3213D	probably damaging	Het
Zbtb21	G	A	16: 97,752,654 (GRCm39)	T543M	possibly damaging	Het
Zc3hav1	A	T	6: 38,309,691 (GRCm39)	V377D	probably benign	Het
Zswim3	T	C	2: 164,661,699 (GRCm39)	C60R	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
R6826:Elmo3	UTSW	8	106,033,378 (GRCm39)	missense	probably damaging	1.00
R7541:Elmo3	UTSW	8	106,033,346 (GRCm39)	missense	probably damaging	1.00
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'- GTCTGTAGAACAGCAACCCAGC -3'
(R):5'- GGCTCAGGGAGAAAGTATCTAC -3'

Sequencing Primer
(F):5'- AGGACCTGGAGCGTGTG -3'
(R):5'- GAGAAAGTATCTACAGCCCCTGG -3'

Posted On

2019-11-26