Mutagenetix > Incidental Mutation

Incidental Mutation 'R5922:Elmo1'

461646

Institutional Source

Beutler Lab

Gene Symbol

Elmo1

Ensembl Gene

ENSMUSG00000041112

Gene Name

engulfment and cell motility 1

Synonyms

CED-12, C230095H21Rik, 6330578D22Rik

MMRRC Submission

043240-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5922 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20274766-20792523 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20789339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 685 (D685G)

Ref Sequence

ENSEMBL: ENSMUSP00000072334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072519]

AlphaFold

Q8BPU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000072519
AA Change: D685G

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

SMART Domains

Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: D685G

Domain	Start	End	E-Value	Type
Pfam:DUF3361	115	280	3.8e-64	PFAM
Pfam:ELMO_CED12	303	481	2.8e-42	PFAM
PH	555	676	2.32e0	SMART
low complexity region	704	717	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired Sertoli cell phagocytosis of apoptotic male germ cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Atr	A	G	9: 95,785,735 (GRCm39)	D1429G	probably benign	Het
Brinp2	A	T	1: 158,076,925 (GRCm39)	V390D	possibly damaging	Het
Cpn1	T	C	19: 43,974,532 (GRCm39)	S66G	probably damaging	Het
Dnal1	C	A	12: 84,173,746 (GRCm39)	L55M	probably damaging	Het
Dus2	G	A	8: 106,780,037 (GRCm39)	R453Q	possibly damaging	Het
Efcab5	T	C	11: 77,079,570 (GRCm39)	T59A	probably benign	Het
Ern1	T	C	11: 106,312,556 (GRCm39)	E275G	probably damaging	Het
Etnk2	A	G	1: 133,291,623 (GRCm39)		probably null	Het
Fign	T	C	2: 63,809,404 (GRCm39)	D622G	probably damaging	Het
Gjb2	A	G	14: 57,337,755 (GRCm39)	M151T	probably benign	Het
Heatr9	C	T	11: 83,403,193 (GRCm39)		probably null	Het
Herpud2	G	A	9: 25,020,280 (GRCm39)	L359F	probably benign	Het
Hpx	C	T	7: 105,244,831 (GRCm39)	R118H	probably damaging	Het
Hyal2	A	G	9: 107,448,106 (GRCm39)	Y253C	probably damaging	Het
Igkv14-130	T	C	6: 67,768,206 (GRCm39)	C22R	probably damaging	Het
Ms4a6b	T	A	19: 11,497,743 (GRCm39)	I14N	possibly damaging	Het
Myb	T	A	10: 21,028,826 (GRCm39)	I91F	probably damaging	Het
Myh6	C	T	14: 55,183,931 (GRCm39)	D1668N	probably damaging	Het
Noc2l	C	T	4: 156,325,770 (GRCm39)	Q182*	probably null	Het
Nsd1	A	G	13: 55,395,288 (GRCm39)	N1066S	probably benign	Het
Nup98	A	G	7: 101,803,224 (GRCm39)	Y659H	probably damaging	Het
Nutm1	T	C	2: 112,079,659 (GRCm39)	E752G	possibly damaging	Het
Paqr6	G	T	3: 88,273,544 (GRCm39)	A154S	probably benign	Het
Pdlim7	G	T	13: 55,656,768 (GRCm39)	T62K	probably damaging	Het
Pibf1	A	G	14: 99,374,524 (GRCm39)	D321G	probably benign	Het
Plrg1	T	A	3: 82,964,155 (GRCm39)	N29K	possibly damaging	Het
Scimp	A	C	11: 70,691,642 (GRCm39)		probably null	Het
Sec16a	T	C	2: 26,305,651 (GRCm39)	N2251S	probably benign	Het
Sec61a2	A	T	2: 5,879,134 (GRCm39)	D291E	possibly damaging	Het
Serpina3i	A	G	12: 104,232,766 (GRCm39)	K224E	probably benign	Het
Spz1	A	T	13: 92,712,106 (GRCm39)	D123E	possibly damaging	Het
St14	A	T	9: 31,041,200 (GRCm39)		probably benign	Het
Ush1c	A	T	7: 45,853,552 (GRCm39)		probably null	Het
Usp54	T	C	14: 20,602,139 (GRCm39)		probably null	Het
Zfhx3	C	T	8: 109,673,330 (GRCm39)	T1460M	probably damaging	Het
Zfp712	G	T	13: 67,189,668 (GRCm39)	N286K	probably benign	Het

Other mutations in Elmo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00548:Elmo1	APN	13	20,445,749 (GRCm39)	missense	probably benign
IGL00814:Elmo1	APN	13	20,470,894 (GRCm39)	missense	probably damaging	0.97
IGL00849:Elmo1	APN	13	20,766,493 (GRCm39)	nonsense	probably null
IGL01417:Elmo1	APN	13	20,435,345 (GRCm39)	critical splice donor site	probably null
IGL01994:Elmo1	APN	13	20,526,634 (GRCm39)	missense	probably damaging	0.99
IGL02435:Elmo1	APN	13	20,773,826 (GRCm39)	missense	probably damaging	1.00
IGL02605:Elmo1	APN	13	20,789,372 (GRCm39)	missense	probably damaging	1.00
IGL02716:Elmo1	APN	13	20,633,672 (GRCm39)	missense	probably damaging	0.98
IGL03389:Elmo1	APN	13	20,526,596 (GRCm39)	missense	probably damaging	0.98
braveheart	UTSW	13	20,458,791 (GRCm39)	critical splice donor site	probably benign
Debil	UTSW	13	20,557,331 (GRCm39)	missense	probably damaging	1.00
Dollie	UTSW	13	20,756,616 (GRCm39)	missense	possibly damaging	0.91
Edinburg	UTSW	13	20,474,553 (GRCm39)	nonsense	probably null
glasgow	UTSW	13	20,773,812 (GRCm39)	critical splice acceptor site	probably null
Golly	UTSW	13	20,557,286 (GRCm39)	missense	possibly damaging	0.96
Lockerbie	UTSW	13	20,784,371 (GRCm39)	missense	probably damaging	1.00
sesame	UTSW	13	20,784,382 (GRCm39)	nonsense	probably null
Tickle	UTSW	13	20,464,973 (GRCm39)	splice site	probably null
Wilmut	UTSW	13	20,766,438 (GRCm39)	nonsense	probably null
Writhe	UTSW	13	20,784,429 (GRCm39)	critical splice donor site	probably null
H8562:Elmo1	UTSW	13	20,465,033 (GRCm39)	missense	probably damaging	1.00
R0360:Elmo1	UTSW	13	20,748,663 (GRCm39)	nonsense	probably null
R0364:Elmo1	UTSW	13	20,748,663 (GRCm39)	nonsense	probably null
R0372:Elmo1	UTSW	13	20,756,629 (GRCm39)	critical splice donor site	probably null
R0975:Elmo1	UTSW	13	20,435,307 (GRCm39)	missense	probably damaging	0.98
R1167:Elmo1	UTSW	13	20,369,625 (GRCm39)	missense	probably damaging	1.00
R1511:Elmo1	UTSW	13	20,474,647 (GRCm39)	missense	possibly damaging	0.60
R1671:Elmo1	UTSW	13	20,472,054 (GRCm39)	splice site	probably benign
R1677:Elmo1	UTSW	13	20,773,841 (GRCm39)	missense	probably benign	0.22
R1868:Elmo1	UTSW	13	20,773,823 (GRCm39)	missense	possibly damaging	0.78
R2941:Elmo1	UTSW	13	20,784,382 (GRCm39)	nonsense	probably null
R3508:Elmo1	UTSW	13	20,789,402 (GRCm39)	missense	probably damaging	1.00
R4344:Elmo1	UTSW	13	20,445,722 (GRCm39)	splice site	probably null
R4378:Elmo1	UTSW	13	20,557,286 (GRCm39)	missense	possibly damaging	0.96
R4423:Elmo1	UTSW	13	20,784,382 (GRCm39)	nonsense	probably null
R4425:Elmo1	UTSW	13	20,784,382 (GRCm39)	nonsense	probably null
R4516:Elmo1	UTSW	13	20,467,084 (GRCm39)	missense	probably benign	0.11
R4862:Elmo1	UTSW	13	20,633,682 (GRCm39)	missense	probably benign
R4990:Elmo1	UTSW	13	20,526,689 (GRCm39)	missense	probably damaging	1.00
R4991:Elmo1	UTSW	13	20,526,689 (GRCm39)	missense	probably damaging	1.00
R4992:Elmo1	UTSW	13	20,526,689 (GRCm39)	missense	probably damaging	1.00
R5197:Elmo1	UTSW	13	20,748,607 (GRCm39)	missense	probably benign	0.20
R5269:Elmo1	UTSW	13	20,633,656 (GRCm39)	missense	probably benign	0.00
R5386:Elmo1	UTSW	13	20,784,380 (GRCm39)	missense	probably benign	0.01
R5471:Elmo1	UTSW	13	20,756,555 (GRCm39)	missense	probably benign	0.01
R5947:Elmo1	UTSW	13	20,474,553 (GRCm39)	nonsense	probably null
R6512:Elmo1	UTSW	13	20,557,331 (GRCm39)	missense	probably damaging	1.00
R6531:Elmo1	UTSW	13	20,756,616 (GRCm39)	missense	possibly damaging	0.91
R7338:Elmo1	UTSW	13	20,464,982 (GRCm39)	missense	probably benign	0.37
R7378:Elmo1	UTSW	13	20,465,105 (GRCm39)	missense	probably benign	0.00
R7477:Elmo1	UTSW	13	20,469,489 (GRCm39)	missense
R7593:Elmo1	UTSW	13	20,474,610 (GRCm39)	missense	probably benign
R7721:Elmo1	UTSW	13	20,464,973 (GRCm39)	splice site	probably null
R7778:Elmo1	UTSW	13	20,773,812 (GRCm39)	critical splice acceptor site	probably null
R8001:Elmo1	UTSW	13	20,470,902 (GRCm39)	missense	probably benign	0.05
R8133:Elmo1	UTSW	13	20,557,256 (GRCm39)	missense	probably damaging	1.00
R8248:Elmo1	UTSW	13	20,784,371 (GRCm39)	missense	probably damaging	1.00
R8685:Elmo1	UTSW	13	20,474,594 (GRCm39)	missense	possibly damaging	0.61
R8713:Elmo1	UTSW	13	20,458,791 (GRCm39)	critical splice donor site	probably benign
R8888:Elmo1	UTSW	13	20,748,630 (GRCm39)	missense	probably damaging	1.00
R8895:Elmo1	UTSW	13	20,748,630 (GRCm39)	missense	probably damaging	1.00
R8945:Elmo1	UTSW	13	20,766,438 (GRCm39)	nonsense	probably null
R9292:Elmo1	UTSW	13	20,784,429 (GRCm39)	critical splice donor site	probably null
R9389:Elmo1	UTSW	13	20,369,661 (GRCm39)	missense	probably benign	0.01
R9417:Elmo1	UTSW	13	20,756,573 (GRCm39)	missense	possibly damaging	0.57
R9472:Elmo1	UTSW	13	20,470,897 (GRCm39)	missense	probably benign	0.31
R9622:Elmo1	UTSW	13	20,392,310 (GRCm39)	missense	probably benign	0.01
R9661:Elmo1	UTSW	13	20,469,531 (GRCm39)	critical splice donor site	probably null
RF008:Elmo1	UTSW	13	20,458,706 (GRCm39)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- GTTGCCTGAGTGCAAAACCTAC -3'
(R):5'- TCCAGTTTGGGAGGAATGCG -3'

Sequencing Primer
(F):5'- AGTTCCTGTTTCTGTTAAATAGAAGG -3'
(R):5'- AATGCGTCTGGGTGCAGC -3'

Posted On

2017-02-28