Mutagenetix > Incidental Mutation

Incidental Mutation 'R5976:Elmo3'

471772

Institutional Source

Beutler Lab

Gene Symbol

Elmo3

Ensembl Gene

ENSMUSG00000014791

Gene Name

engulfment and cell motility 3

Synonyms

CED-12

MMRRC Submission

044158-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5976 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106032240-106036625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106034279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 266 (Y266C)

Ref Sequence

ENSEMBL: ENSMUSP00000148820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015003] [ENSMUST00000070508] [ENSMUST00000109375] [ENSMUST00000209964] [ENSMUST00000210412] [ENSMUST00000212033] [ENSMUST00000211199] [ENSMUST00000210801] [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

noncoding transcript
Transcript: ENSMUST00000093622

Predicted Effect

probably damaging
Transcript: ENSMUST00000109375
AA Change: Y283C

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

SMART Domains

Protein: ENSMUSP00000105000
Gene: ENSMUSG00000014791
AA Change: Y283C

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 benign
Transcript: ENSMUST00000209964

Predicted Effect

probably benign
Transcript: ENSMUST00000210412

Predicted Effect

probably damaging
Transcript: ENSMUST00000212033
AA Change: Y266C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212345

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212655

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212572

Predicted Effect

probably benign
Transcript: ENSMUST00000211199

Predicted Effect

probably benign
Transcript: ENSMUST00000210801

Predicted Effect

probably benign
Transcript: ENSMUST00000212046

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankar	T	C	1: 72,682,450 (GRCm39)	T1154A	probably benign	Het
Ankrd26	A	T	6: 118,494,855 (GRCm39)		probably null	Het
Arih2	A	T	9: 108,485,172 (GRCm39)	*54R	probably null	Het
AW146154	T	G	7: 41,129,721 (GRCm39)	K465T	probably damaging	Het
Bend3	A	G	10: 43,386,540 (GRCm39)	Y311C	probably benign	Het
Bltp2	G	A	11: 78,174,955 (GRCm39)	A1697T	probably benign	Het
Ccdc110	A	T	8: 46,396,536 (GRCm39)	Y809F	possibly damaging	Het
Ccnh	C	T	13: 85,338,982 (GRCm39)	P76L	probably damaging	Het
Chaf1a	T	A	17: 56,371,115 (GRCm39)	C667S	probably damaging	Het
Clca3a1	A	T	3: 144,452,636 (GRCm39)	Y616N	probably damaging	Het
Cldn4	A	G	5: 134,975,410 (GRCm39)	C64R	probably damaging	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 133,801,837 (GRCm39)		probably benign	Het
Dclk2	C	A	3: 86,694,532 (GRCm39)	R752L	possibly damaging	Het
Dzank1	C	A	2: 144,343,409 (GRCm39)	G318W	probably damaging	Het
Edem1	T	A	6: 108,819,923 (GRCm39)	I236K	probably damaging	Het
Eif4e1b	T	C	13: 54,932,635 (GRCm39)	F75L	probably damaging	Het
Enpep	A	G	3: 129,092,773 (GRCm39)	S509P	probably damaging	Het
Exoc8	A	G	8: 125,623,392 (GRCm39)	M325T	probably benign	Het
Fah	A	G	7: 84,243,949 (GRCm39)	M270T	probably benign	Het
Gabbr1	T	C	17: 37,378,754 (GRCm39)	L532P	probably damaging	Het
Gm10770	T	A	2: 150,021,320 (GRCm39)	K66*	probably null	Het
Gprc5c	A	T	11: 114,755,313 (GRCm39)	Q330L	possibly damaging	Het
Grin3a	T	A	4: 49,792,602 (GRCm39)	H377L	probably damaging	Het
Hipk3	T	C	2: 104,301,529 (GRCm39)	E221G	probably damaging	Het
Hsd17b6	T	A	10: 127,827,308 (GRCm39)	M255L	probably benign	Het
Ighv1-7	T	A	12: 114,502,379 (GRCm39)	E29D	probably benign	Het
Ing3	T	A	6: 21,971,173 (GRCm39)	S326T	probably benign	Het
Ipo7	T	C	7: 109,648,014 (GRCm39)	L632P	probably damaging	Het
Kdm6b	A	G	11: 69,294,614 (GRCm39)		probably null	Het
Kif21a	T	G	15: 90,820,015 (GRCm39)	D1583A	probably damaging	Het
Lama2	C	T	10: 27,066,672 (GRCm39)	V1070I	probably benign	Het
Lrp1	A	T	10: 127,419,770 (GRCm39)	S946R	probably damaging	Het
Lrrc37a	A	G	11: 103,389,897 (GRCm39)	S1843P	possibly damaging	Het
Ltbp1	T	C	17: 75,597,078 (GRCm39)	Y517H	probably damaging	Het
Map2k4	T	A	11: 65,600,778 (GRCm39)	N51I	probably benign	Het
Mfsd2b	G	T	12: 4,916,522 (GRCm39)	A216D	probably damaging	Het
Nbea	T	C	3: 55,761,268 (GRCm39)	T2025A	probably benign	Het
Neb	A	G	2: 52,106,928 (GRCm39)	V4162A	possibly damaging	Het
Nr3c1	A	T	18: 39,554,602 (GRCm39)	F599I	probably damaging	Het
Nsun2	T	G	13: 69,771,271 (GRCm39)		probably null	Het
Or10ab4	T	A	7: 107,655,005 (GRCm39)	M272K	possibly damaging	Het
Or8b37	G	T	9: 37,958,997 (GRCm39)	V160F	possibly damaging	Het
Otoa	T	A	7: 120,726,936 (GRCm39)	W524R	probably benign	Het
Paip1	T	A	13: 119,593,533 (GRCm39)	D182E	probably damaging	Het
Pde1a	G	A	2: 79,698,586 (GRCm39)	Q415*	probably null	Het
Pfkfb2	T	A	1: 130,635,816 (GRCm39)	K72*	probably null	Het
Pigg	A	G	5: 108,480,057 (GRCm39)	E444G	probably null	Het
Plec	T	C	15: 76,073,237 (GRCm39)	Y669C	probably damaging	Het
Ptp4a3	T	C	15: 73,627,885 (GRCm39)	V94A	possibly damaging	Het
Ptprg	A	G	14: 12,211,625 (GRCm38)	E969G	probably damaging	Het
R3hcc1l	T	A	19: 42,551,789 (GRCm39)	V262E	probably benign	Het
Ranbp3l	T	G	15: 9,030,916 (GRCm39)	F65C	possibly damaging	Het
Rbm19	T	A	5: 120,278,372 (GRCm39)	S718R	probably benign	Het
Recql4	C	A	15: 76,593,624 (GRCm39)	R162L	probably benign	Het
Rest	T	C	5: 77,416,119 (GRCm39)	L111P	probably benign	Het
Rgma	T	C	7: 73,059,216 (GRCm39)	S13P	probably damaging	Het
Rogdi	T	A	16: 4,831,175 (GRCm39)	I31F	probably benign	Het
Serpinb9e	T	A	13: 33,439,112 (GRCm39)	D179E	probably benign	Het
Slc1a5	T	C	7: 16,529,807 (GRCm39)	C409R	probably damaging	Het
Slc25a38	A	G	9: 119,945,613 (GRCm39)	T38A	probably damaging	Het
Spag17	C	T	3: 100,003,107 (GRCm39)	Q1897*	probably null	Het
St7	C	A	6: 17,694,221 (GRCm39)	A4E	possibly damaging	Het
Tbcel	T	A	9: 42,350,499 (GRCm39)	I263F	possibly damaging	Het
Tmtc3	A	G	10: 100,312,534 (GRCm39)	V103A	probably benign	Het
Tnc	G	A	4: 63,936,403 (GRCm39)	P178S	probably benign	Het
Vwf	A	G	6: 125,580,426 (GRCm39)	D558G		Het
Zfp541	A	G	7: 15,810,344 (GRCm39)	K127R	probably benign	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
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
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'- CTCACCCACTGTAGGAAATGC -3'
(R):5'- TCTGGTTCAAAGGCTGCCTG -3'

Sequencing Primer
(F):5'- TGTAGGAAATGCTTGACCACC -3'
(R):5'- AGGGGCATGTCAAGATCA -3'

Posted On

2017-03-31