Mutagenetix > Incidental Mutation

Incidental Mutation 'R0364:Elmo1'

65561

Institutional Source

Beutler Lab

Gene Symbol

Elmo1

Ensembl Gene

ENSMUSG00000041112

Gene Name

engulfment and cell motility 1

Synonyms

CED-12, C230095H21Rik, 6330578D22Rik

MMRRC Submission

038570-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0364 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20274766-20792523 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 20748663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 503 (K503*)

Ref Sequence

ENSEMBL: ENSMUSP00000072334 (fasta)

Gene Model

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

AlphaFold

Q8BPU7

Predicted Effect

probably null
Transcript: ENSMUST00000072519
AA Change: K503*

SMART Domains

Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: K503*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180767

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (86/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,310,553 (GRCm39)		probably benign	Het
Ano7	A	G	1: 93,316,380 (GRCm39)	D221G	probably benign	Het
Arhgef12	A	T	9: 42,929,697 (GRCm39)	N199K	probably damaging	Het
Arpc2	A	G	1: 74,276,046 (GRCm39)	N26S	probably null	Het
Camta2	G	A	11: 70,574,136 (GRCm39)	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,627,282 (GRCm39)	N665I	probably damaging	Het
Ccdc178	C	T	18: 22,048,119 (GRCm39)	R757H	probably damaging	Het
Cfap52	A	C	11: 67,844,436 (GRCm39)	I93S	possibly damaging	Het
Cmklr1	A	T	5: 113,752,578 (GRCm39)	L141H	probably damaging	Het
Crybb3	T	A	5: 113,223,819 (GRCm39)	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,504,155 (GRCm39)	P97S	probably benign	Het
Cubn	T	C	2: 13,315,318 (GRCm39)		probably benign	Het
Cyp2d37-ps	T	C	15: 82,574,253 (GRCm39)		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,290,117 (GRCm39)	N223K	probably benign	Het
Dennd2a	T	C	6: 39,485,233 (GRCm39)	T349A	probably benign	Het
Dnah12	A	G	14: 26,445,628 (GRCm39)	T730A	probably benign	Het
Dock5	G	A	14: 68,060,129 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,221,097 (GRCm39)		probably benign	Het
Elac2	A	G	11: 64,870,136 (GRCm39)	Y67C	probably damaging	Het
Endou	A	T	15: 97,616,854 (GRCm39)		probably benign	Het
Eng	T	C	2: 32,569,149 (GRCm39)	S559P	probably benign	Het
Epc2	T	A	2: 49,427,145 (GRCm39)	V563E	possibly damaging	Het
Fbxw17	T	C	13: 50,586,477 (GRCm39)	S40P	possibly damaging	Het
Flt4	A	T	11: 49,527,818 (GRCm39)	M924L	probably benign	Het
Fyb1	A	G	15: 6,610,272 (GRCm39)	K282E	probably damaging	Het
Gabpa	T	A	16: 84,654,275 (GRCm39)	N317K	possibly damaging	Het
Gli3	G	T	13: 15,899,349 (GRCm39)	G912V	probably benign	Het
Gm10295	C	A	7: 71,000,361 (GRCm39)	C73F	unknown	Het
Gm10382	G	T	5: 125,466,728 (GRCm39)		probably benign	Het
Gp1ba	T	C	11: 70,531,284 (GRCm39)		probably benign	Het
Gpr146	G	A	5: 139,364,933 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,723,594 (GRCm39)	Y628C	probably damaging	Het
Hexa	A	G	9: 59,471,218 (GRCm39)	N491D	probably benign	Het
Hexd	T	A	11: 121,102,969 (GRCm39)	H62Q	probably benign	Het
Hpx	G	T	7: 105,245,471 (GRCm39)	Q101K	probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Inpp4b	A	T	8: 82,723,943 (GRCm39)	T492S	probably benign	Het
Iqgap2	A	C	13: 95,867,783 (GRCm39)		probably benign	Het
Islr2	T	C	9: 58,107,027 (GRCm39)	T78A	possibly damaging	Het
Itga9	A	G	9: 118,670,210 (GRCm39)	T177A	probably benign	Het
Itpkc	A	C	7: 26,927,174 (GRCm39)	S247A	possibly damaging	Het
Kirrel1	T	C	3: 86,997,106 (GRCm39)	Y287C	probably damaging	Het
Kiz	T	G	2: 146,784,076 (GRCm39)	S536R	probably benign	Het
Klhl9	T	G	4: 88,638,527 (GRCm39)	K571N	probably benign	Het
Kprp	A	T	3: 92,731,642 (GRCm39)	Y469*	probably null	Het
Ksr1	A	T	11: 78,919,851 (GRCm39)		probably benign	Het
Lrrc37a	C	T	11: 103,391,466 (GRCm39)	V1320I	possibly damaging	Het
Ltf	A	T	9: 110,854,235 (GRCm39)	N350I	probably benign	Het
Msl3l2	G	A	10: 55,991,947 (GRCm39)	R224Q	possibly damaging	Het
Myh6	A	T	14: 55,185,804 (GRCm39)	Y1490*	probably null	Het
Necap1	A	G	6: 122,857,728 (GRCm39)		probably benign	Het
Nf1	A	T	11: 79,332,783 (GRCm39)	K810*	probably null	Het
Nkx6-3	A	G	8: 23,647,722 (GRCm39)	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,004,830 (GRCm39)		probably benign	Het
Obscn	G	A	11: 59,019,107 (GRCm39)	A969V	probably benign	Het
Or11a4	T	C	17: 37,536,934 (GRCm39)	L306P	possibly damaging	Het
Or7g32	G	A	9: 19,389,268 (GRCm39)	Q90*	probably null	Het
Or8b40	A	G	9: 38,027,325 (GRCm39)	T78A	probably benign	Het
Or8k33	A	T	2: 86,384,123 (GRCm39)	L115Q	probably damaging	Het
Pcdhb17	C	A	18: 37,618,888 (GRCm39)	A226E	possibly damaging	Het
Phldb1	A	T	9: 44,610,632 (GRCm39)		probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pon2	G	A	6: 5,266,156 (GRCm39)	Q288*	probably null	Het
Prr14	G	A	7: 127,073,751 (GRCm39)	R205H	probably benign	Het
Ptpn13	C	A	5: 103,681,214 (GRCm39)	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,735,992 (GRCm39)	V62D	probably damaging	Het
Rab37	G	T	11: 115,047,790 (GRCm39)	C44F	probably damaging	Het
Rbm44	T	C	1: 91,080,069 (GRCm39)	S52P	probably benign	Het
Rusf1	C	T	7: 127,889,786 (GRCm39)	R1H	probably damaging	Het
Scn5a	T	C	9: 119,351,665 (GRCm39)	D772G	probably damaging	Het
Slc7a5	A	G	8: 122,611,754 (GRCm39)	F425L	probably benign	Het
Slk	T	A	19: 47,608,628 (GRCm39)	L527*	probably null	Het
Stpg4	T	A	17: 87,697,142 (GRCm39)		probably null	Het
Taar6	C	A	10: 23,861,046 (GRCm39)	V167L	probably benign	Het
Tas2r123	T	A	6: 132,824,644 (GRCm39)	S180R	probably benign	Het
Tmc2	C	T	2: 130,044,023 (GRCm39)	R86W	probably benign	Het
Tmem200c	T	A	17: 69,147,543 (GRCm39)	V42E	probably damaging	Het
Trhde	T	C	10: 114,338,887 (GRCm39)		probably benign	Het
Tshz1	A	T	18: 84,034,249 (GRCm39)	I53N	probably benign	Het
Tshz3	A	G	7: 36,469,958 (GRCm39)	E649G	probably benign	Het
Ttll7	C	A	3: 146,650,936 (GRCm39)	R719S	possibly damaging	Het
Utp4	T	C	8: 107,625,169 (GRCm39)		probably benign	Het
Vmn1r35	A	G	6: 66,655,827 (GRCm39)	I281T	probably damaging	Het
Vps39	T	G	2: 120,176,119 (GRCm39)	K76T	probably damaging	Het
Whamm	A	G	7: 81,243,799 (GRCm39)	T674A	probably benign	Het
Zbtb16	A	G	9: 48,654,876 (GRCm39)		probably benign	Het
Zfp623	T	C	15: 75,820,510 (GRCm39)	S489P	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
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
R5922:Elmo1	UTSW	13	20,789,339 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-08-08