Mutagenetix > Incidental Mutation

Incidental Mutation 'R9389:Elmo1'

710500

Institutional Source

Beutler Lab

Gene Symbol

Elmo1

Ensembl Gene

ENSMUSG00000041112

Gene Name

engulfment and cell motility 1

Synonyms

C230095H21Rik, 6330578D22Rik, CED-12

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20090596-20608353 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 20185491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 22 (M22R)

Ref Sequence

ENSEMBL: ENSMUSP00000072334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072519] [ENSMUST00000180626] [ENSMUST00000221067]

AlphaFold

Q8BPU7

Predicted Effect

probably benign
Transcript: ENSMUST00000072519
AA Change: M22R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: M22R

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

possibly damaging
Transcript: ENSMUST00000180626
AA Change: M22R

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000221067

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	T	6: 41,033,145	G85D	probably benign	Het
4931440F15Rik	A	G	11: 29,825,107	S117P	probably damaging	Het
Abcb1b	G	A	5: 8,825,614	V596I	probably benign	Het
Agtpbp1	A	T	13: 59,466,070	M1019K	probably damaging	Het
Arfgef3	A	G	10: 18,603,523	V1448A	probably damaging	Het
Baz1a	T	A	12: 54,916,823	E828D	probably damaging	Het
Ces1f	A	T	8: 93,269,972		probably null	Het
Cfap53	T	A	18: 74,299,343		probably null	Het
Col6a4	T	C	9: 106,000,784	Y1998C	probably damaging	Het
Col9a2	A	G	4: 121,054,751	T675A	probably benign	Het
Dusp6	G	A	10: 99,263,977	V96M	possibly damaging	Het
Gm19965	A	G	1: 116,821,836	N416D		Het
Gpr162	A	G	6: 124,861,394	Y98H	probably damaging	Het
Igfals	G	A	17: 24,881,626	V564I	probably benign	Het
Il4	C	T	11: 53,614,010	R76H	probably damaging	Het
Itgb1	T	A	8: 128,707,156	N50K	probably benign	Het
Itpr3	A	T	17: 27,095,925	Y682F	possibly damaging	Het
Jak3	C	T	8: 71,684,052	P668S	probably damaging	Het
Malrd1	A	T	2: 15,703,156	N932I	unknown	Het
Mast4	C	A	13: 103,333,930	R88L	probably benign	Het
Mfsd11	T	G	11: 116,873,335	S381A	probably benign	Het
Mrm3	A	G	11: 76,250,030	D288G	probably damaging	Het
Myg1	G	T	15: 102,336,937	V198F	probably damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Npy6r	T	C	18: 44,275,692	I60T	probably damaging	Het
Olfr1109	A	T	2: 87,093,046	M117K	possibly damaging	Het
Olfr1308	G	T	2: 111,960,527	P182H	probably damaging	Het
Olfr1341	A	T	4: 118,710,156	M250L	probably benign	Het
Olfr177	C	T	16: 58,872,613	C179Y	probably damaging	Het
Olfr530	T	C	7: 140,373,017	T198A	probably benign	Het
Olfr811	G	A	10: 129,801,671	P285S	probably damaging	Het
Ovgp1	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	3: 105,986,525		probably benign	Het
Oxtr	C	A	6: 112,489,349	R150L	probably damaging	Het
Pappa	A	T	4: 65,180,888	Y548F	probably damaging	Het
Pip4k2a	T	C	2: 18,908,079	K73R	probably damaging	Het
Pla2g4f	T	A	2: 120,302,300	D685V	probably damaging	Het
Ppp1r35	T	A	5: 137,779,315	L81Q	probably damaging	Het
Ptprf	C	A	4: 118,236,039	A469S	probably benign	Het
Ranbp3l	T	A	15: 9,057,223	N322K	probably damaging	Het
Rev3l	T	A	10: 39,822,971	Y1155N	possibly damaging	Het
Rfesd	T	C	13: 76,003,012	Y96C	probably damaging	Het
Runx1	C	T	16: 92,613,680	V283I	possibly damaging	Het
Sema5b	A	C	16: 35,645,722	Q125P	probably damaging	Het
Spef2	A	T	15: 9,725,221	M150K	probably damaging	Het
Srcap	T	G	7: 127,542,283	L1745W	probably damaging	Het
Srgap2	A	G	1: 131,355,627	Y239H	probably damaging	Het
Svil	T	A	18: 5,090,811	H1304Q	possibly damaging	Het
Syne1	T	C	10: 5,229,193	D4427G	possibly damaging	Het
Tg	T	A	15: 66,689,324	M1065K	probably benign	Het
Tgm2	T	C	2: 158,117,896	T656A	probably benign	Het
Ttc37	A	G	13: 76,127,039	D403G	probably benign	Het
Ubr4	A	G	4: 139,425,924	K809E		Het
Vmn1r88	T	C	7: 13,178,619	S301P	probably damaging	Het
Wdr27	A	G	17: 14,891,718	V671A	possibly damaging	Het
Zbtb17	G	A	4: 141,465,820	V550I	possibly damaging	Het
Zeb2	A	T	2: 44,997,908	I379N	probably damaging	Het

Other mutations in Elmo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00548:Elmo1	APN	13	20261579	missense	probably benign
IGL00814:Elmo1	APN	13	20286724	missense	probably damaging	0.97
IGL00849:Elmo1	APN	13	20582323	nonsense	probably null
IGL01417:Elmo1	APN	13	20251175	critical splice donor site	probably null
IGL01994:Elmo1	APN	13	20342464	missense	probably damaging	0.99
IGL02435:Elmo1	APN	13	20589656	missense	probably damaging	1.00
IGL02605:Elmo1	APN	13	20605202	missense	probably damaging	1.00
IGL02716:Elmo1	APN	13	20449502	missense	probably damaging	0.98
IGL03389:Elmo1	APN	13	20342426	missense	probably damaging	0.98
braveheart	UTSW	13	20274621	critical splice donor site	probably benign
Debil	UTSW	13	20373161	missense	probably damaging	1.00
Dollie	UTSW	13	20572446	missense	possibly damaging	0.91
Edinburg	UTSW	13	20290383	nonsense	probably null
glasgow	UTSW	13	20589642	critical splice acceptor site	probably null
Golly	UTSW	13	20373116	missense	possibly damaging	0.96
Lockerbie	UTSW	13	20600201	missense	probably damaging	1.00
sesame	UTSW	13	20600212	nonsense	probably null
Tickle	UTSW	13	20280803	splice site	probably null
Wilmut	UTSW	13	20582268	nonsense	probably null
Writhe	UTSW	13	20600259	critical splice donor site	probably null
H8562:Elmo1	UTSW	13	20280863	missense	probably damaging	1.00
R0360:Elmo1	UTSW	13	20564493	nonsense	probably null
R0364:Elmo1	UTSW	13	20564493	nonsense	probably null
R0372:Elmo1	UTSW	13	20572459	critical splice donor site	probably null
R0975:Elmo1	UTSW	13	20251137	missense	probably damaging	0.98
R1167:Elmo1	UTSW	13	20185455	missense	probably damaging	1.00
R1511:Elmo1	UTSW	13	20290477	missense	possibly damaging	0.60
R1671:Elmo1	UTSW	13	20287884	splice site	probably benign
R1677:Elmo1	UTSW	13	20589671	missense	probably benign	0.22
R1868:Elmo1	UTSW	13	20589653	missense	possibly damaging	0.78
R2941:Elmo1	UTSW	13	20600212	nonsense	probably null
R3508:Elmo1	UTSW	13	20605232	missense	probably damaging	1.00
R4344:Elmo1	UTSW	13	20261552	splice site	probably null
R4378:Elmo1	UTSW	13	20373116	missense	possibly damaging	0.96
R4423:Elmo1	UTSW	13	20600212	nonsense	probably null
R4425:Elmo1	UTSW	13	20600212	nonsense	probably null
R4516:Elmo1	UTSW	13	20282914	missense	probably benign	0.11
R4862:Elmo1	UTSW	13	20449512	missense	probably benign
R4990:Elmo1	UTSW	13	20342519	missense	probably damaging	1.00
R4991:Elmo1	UTSW	13	20342519	missense	probably damaging	1.00
R4992:Elmo1	UTSW	13	20342519	missense	probably damaging	1.00
R5197:Elmo1	UTSW	13	20564437	missense	probably benign	0.20
R5269:Elmo1	UTSW	13	20449486	missense	probably benign	0.00
R5386:Elmo1	UTSW	13	20600210	missense	probably benign	0.01
R5471:Elmo1	UTSW	13	20572385	missense	probably benign	0.01
R5922:Elmo1	UTSW	13	20605169	missense	probably damaging	1.00
R5947:Elmo1	UTSW	13	20290383	nonsense	probably null
R6512:Elmo1	UTSW	13	20373161	missense	probably damaging	1.00
R6531:Elmo1	UTSW	13	20572446	missense	possibly damaging	0.91
R7338:Elmo1	UTSW	13	20280812	missense	probably benign	0.37
R7378:Elmo1	UTSW	13	20280935	missense	probably benign	0.00
R7477:Elmo1	UTSW	13	20285319	missense
R7593:Elmo1	UTSW	13	20290440	missense	probably benign
R7721:Elmo1	UTSW	13	20280803	splice site	probably null
R7778:Elmo1	UTSW	13	20589642	critical splice acceptor site	probably null
R8001:Elmo1	UTSW	13	20286732	missense	probably benign	0.05
R8133:Elmo1	UTSW	13	20373086	missense	probably damaging	1.00
R8248:Elmo1	UTSW	13	20600201	missense	probably damaging	1.00
R8685:Elmo1	UTSW	13	20290424	missense	possibly damaging	0.61
R8713:Elmo1	UTSW	13	20274621	critical splice donor site	probably benign
R8888:Elmo1	UTSW	13	20564460	missense	probably damaging	1.00
R8895:Elmo1	UTSW	13	20564460	missense	probably damaging	1.00
R8945:Elmo1	UTSW	13	20582268	nonsense	probably null
R9292:Elmo1	UTSW	13	20600259	critical splice donor site	probably null
R9417:Elmo1	UTSW	13	20572403	missense	possibly damaging	0.57
R9472:Elmo1	UTSW	13	20286727	missense	probably benign	0.31
R9622:Elmo1	UTSW	13	20208140	missense	probably benign	0.01
R9661:Elmo1	UTSW	13	20285361	critical splice donor site	probably null
RF008:Elmo1	UTSW	13	20274536	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- TTGCATCTGCGCTGAACTAC -3'
(R):5'- CCCAGTATTGACAGAATCCAGC -3'

Sequencing Primer
(F):5'- ATCTGCGCTGAACTACTTTCTTTTTG -3'
(R):5'- CCAGTATTGACAGAATCCAGCAGATG -3'

Posted On

2022-04-18