Mutagenetix > Incidental Mutations

Incidental Mutation 'R0630:Megf10'

57892

Institutional Source

Beutler Lab

Gene Symbol

Megf10

Ensembl Gene

ENSMUSG00000024593

Gene Name

multiple EGF-like-domains 10

Synonyms

3000002B06Rik, LOC240312

MMRRC Submission

038819-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.567) question?

Stock #

R0630 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57133090-57297467 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57287995 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 902 (I902F)

Ref Sequence

ENSEMBL: ENSMUSP00000116814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075770] [ENSMUST00000139892]

Predicted Effect

probably benign
Transcript: ENSMUST00000075770
AA Change: I902F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000075174
Gene: ENSMUSG00000024593
AA Change: I902F

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
EGF	108	136	9.41e-2	SMART
EGF_Lam	152	191	3.57e-2	SMART
EGF	190	222	5.79e-2	SMART
EGF	233	265	1.78e-2	SMART
EGF_Lam	281	320	7.58e-6	SMART
EGF	319	351	7.13e-2	SMART
EGF_Lam	368	409	9.05e-4	SMART
EGF	408	440	8.78e-2	SMART
EGF	451	483	2.85e-1	SMART
EGF	494	526	2.02e-1	SMART
EGF_Lam	542	581	1.04e-3	SMART
EGF	580	612	1.91e-2	SMART
EGF	623	657	2.16e1	SMART
EGF	668	700	2.48e-1	SMART
EGF	711	743	2.81e0	SMART
EGF_Lam	759	798	4.16e-3	SMART
EGF	797	829	1.73e0	SMART
transmembrane domain	856	878	N/A	INTRINSIC
low complexity region	1014	1026	N/A	INTRINSIC
low complexity region	1131	1146	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139892
AA Change: I902F

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116814
Gene: ENSMUSG00000024593
AA Change: I902F

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
EGF	108	136	9.41e-2	SMART
EGF_Lam	152	191	3.57e-2	SMART
EGF	190	222	5.79e-2	SMART
EGF	233	265	1.78e-2	SMART
EGF_Lam	281	320	7.58e-6	SMART
EGF	319	351	7.13e-2	SMART
EGF_Lam	368	409	9.05e-4	SMART
EGF	408	440	8.78e-2	SMART
EGF	451	483	2.85e-1	SMART
EGF	494	526	2.02e-1	SMART
EGF_Lam	542	581	1.04e-3	SMART
EGF	580	612	1.91e-2	SMART
EGF	623	657	2.16e1	SMART
EGF	668	700	2.48e-1	SMART
EGF	711	743	2.81e0	SMART
EGF_Lam	759	798	4.16e-3	SMART
EGF	797	829	1.73e0	SMART
transmembrane domain	856	878	N/A	INTRINSIC
low complexity region	1014	1026	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

97% (108/111)

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 multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a targeted allele exhibit abnormal spacing of starburst amacrine cells and horizontal cells. Homozygotes for another targeted allele exhibit impaired phagocytosis of apoptotic cells by astrocytes. Mice heterozygous for this same allele exhibit mild disorganization of starburts amacrine cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 184,033,907		probably benign	Het
4930562C15Rik	T	A	16: 4,850,939	N731K	possibly damaging	Het
Adgra1	A	T	7: 139,852,584	K113*	probably null	Het
Adgrl2	T	C	3: 148,839,244	I659M	probably damaging	Het
Adm	G	T	7: 110,628,548	R41L	probably damaging	Het
Aimp2	T	C	5: 143,906,601	E97G	probably benign	Het
Aox2	T	C	1: 58,337,321		probably benign	Het
Arhgap20	G	A	9: 51,849,384	R809H	probably damaging	Het
Arsa	T	C	15: 89,474,004		probably benign	Het
Atg2a	G	T	19: 6,244,517	A88S	probably damaging	Het
Atm	G	A	9: 53,531,622		probably benign	Het
Atp1a2	A	T	1: 172,291,275	I100N	possibly damaging	Het
BC037034	A	G	5: 138,262,289	S292P	probably damaging	Het
Camta2	G	C	11: 70,678,305	L605V	probably damaging	Het
Cand2	G	A	6: 115,803,805	E1217K	probably damaging	Het
Ccdc60	A	G	5: 116,136,381	V388A	possibly damaging	Het
Cdk14	C	T	5: 5,135,422		probably benign	Het
Cdyl2	C	T	8: 116,624,035	G119E	probably benign	Het
Celsr3	A	G	9: 108,827,692	N458S	probably damaging	Het
Chd3	A	C	11: 69,347,195	H1808Q	probably damaging	Het
Cntnap2	T	C	6: 46,988,760	V835A	probably damaging	Het
Col4a1	C	A	8: 11,199,889		probably benign	Het
Cpsf1	A	G	15: 76,601,971	V357A	probably damaging	Het
Cryzl1	A	G	16: 91,707,219		probably benign	Het
Cts8	T	C	13: 61,253,442	K90R	possibly damaging	Het
Cux1	A	G	5: 136,286,835	V1117A	probably damaging	Het
Dbx1	T	C	7: 49,632,696	T254A	probably damaging	Het
Dgki	C	A	6: 37,000,198	C659F	probably damaging	Het
Dnajc1	T	G	2: 18,231,801	D332A	probably damaging	Het
Dock8	C	A	19: 25,061,160	T70K	probably benign	Het
Dsc1	T	A	18: 20,085,862	T828S	probably damaging	Het
Dst	T	G	1: 34,193,450	V3510G	probably benign	Het
Dst	T	C	1: 34,199,473	V1738A	probably damaging	Het
Ehmt2	A	G	17: 34,899,842	T167A	probably benign	Het
Eri2	A	T	7: 119,786,417	V287E	probably benign	Het
Fat4	T	A	3: 39,000,172	L4121H	probably damaging	Het
Fbn1	T	A	2: 125,394,770	D330V	possibly damaging	Het
Fign	A	G	2: 63,980,141	Y262H	possibly damaging	Het
Fnd3c2	C	T	X: 106,239,157	M593I	probably benign	Het
Fndc7	T	A	3: 108,876,615	E226V	probably damaging	Het
Gad2	A	T	2: 22,690,336	Q583L	probably benign	Het
Gcn1l1	G	A	5: 115,581,089	A334T	probably benign	Het
Ggt1	A	G	10: 75,585,502		probably null	Het
Gli2	C	T	1: 118,841,918	G635R	possibly damaging	Het
Gm10253	T	C	3: 88,739,113	E93G	unknown	Het
Gm10428	A	G	11: 62,753,430		probably benign	Het
Gm7104	T	C	12: 88,285,709		noncoding transcript	Het
Gm8258	T	G	5: 104,776,519		noncoding transcript	Het
Gpr107	A	G	2: 31,214,297	N538S	possibly damaging	Het
Hars	T	C	18: 36,771,389	E190G	probably damaging	Het
Hoxc10	C	T	15: 102,967,482	P209S	probably benign	Het
Ighg3	T	C	12: 113,360,094		probably benign	Het
Igsf10	C	A	3: 59,326,062	W1750L	probably damaging	Het
Igsf5	C	A	16: 96,372,823		probably benign	Het
Itga10	T	C	3: 96,656,299		probably benign	Het
Ldhd	T	C	8: 111,627,302	K422R	probably benign	Het
Masp1	T	C	16: 23,452,419	K693R	probably benign	Het
Mb21d2	G	A	16: 28,929,572	A31V	probably benign	Het
Mbd1	T	A	18: 74,276,727		probably benign	Het
Mdm4	G	A	1: 132,991,753	T459I	possibly damaging	Het
Mta3	A	G	17: 83,714,627	N37S	probably damaging	Het
Mterf3	T	A	13: 66,912,308	Y372F	probably damaging	Het
Nbeal2	A	G	9: 110,636,034		probably benign	Het
Nbr1	T	C	11: 101,567,087		probably benign	Het
Ndst3	A	G	3: 123,562,071	M103T	probably damaging	Het
Notch3	C	A	17: 32,147,472		probably benign	Het
Npr2	A	T	4: 43,641,219	E415V	probably benign	Het
Olfr1105	A	T	2: 87,033,309	M304K	probably benign	Het
Olfr1286	T	C	2: 111,420,846	Y35C	probably damaging	Het
Olfr135	A	G	17: 38,208,413	H56R	probably damaging	Het
Olfr651	G	C	7: 104,553,791	V291L	probably benign	Het
Olfr914	T	A	9: 38,606,896	F144I	probably benign	Het
Pappa2	T	A	1: 158,832,773	D1246V	probably benign	Het
Pcdhgc5	A	T	18: 37,821,878	D735V	probably benign	Het
Pik3ca	A	G	3: 32,450,027	Y622C	possibly damaging	Het
Plppr2	A	G	9: 21,947,901	D438G	probably benign	Het
Ppfibp2	A	T	7: 107,738,599		probably null	Het
Prdm15	A	T	16: 97,837,707	L77Q	probably null	Het
Prdm8	T	C	5: 98,184,521	S94P	probably damaging	Het
Prkdc	A	T	16: 15,810,801	Q3470L	probably damaging	Het
Prl3c1	T	C	13: 27,200,691		probably benign	Het
Ptchd4	A	T	17: 42,377,185	H206L	probably benign	Het
Rack1	G	A	11: 48,803,977		probably benign	Het
Rere	T	C	4: 150,619,088	L1509P	probably damaging	Het
Rgma	T	A	7: 73,417,618	L301Q	probably damaging	Het
Rgs6	T	A	12: 83,047,550		probably benign	Het
Rictor	C	A	15: 6,794,492	R1613S	probably damaging	Het
Ripk1	T	G	13: 34,027,781	F358C	probably damaging	Het
Robo2	T	C	16: 73,916,205	D1217G	probably benign	Het
Shc2	A	T	10: 79,626,141	W357R	probably null	Het
Slc25a45	T	C	19: 5,880,528	L81P	probably damaging	Het
Slc9c1	A	T	16: 45,543,120		probably benign	Het
Spats2	T	C	15: 99,186,028		probably null	Het
Stac3	A	T	10: 127,507,763	E258V	probably damaging	Het
Thada	A	G	17: 84,229,175	S1648P	probably damaging	Het
Tmem168	T	C	6: 13,583,065	T222A	probably benign	Het
Tmtc4	T	C	14: 122,926,090		probably benign	Het
Trim38	T	G	13: 23,791,132	Y351*	probably null	Het
Trip12	T	C	1: 84,793,915	R213G	possibly damaging	Het
Vav3	C	T	3: 109,424,012	R76W	probably damaging	Het
Vmn1r63	G	T	7: 5,803,264	P123H	probably damaging	Het
Wdr5	A	G	2: 27,520,607	N130S	probably benign	Het
Wnk4	C	A	11: 101,265,386	R27S	probably damaging	Het
Ykt6	G	A	11: 5,959,323	S44N	probably benign	Het
Ythdc1	T	A	5: 86,809,348		probably benign	Het

Other mutations in Megf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Megf10	APN	18	57240628	missense	probably damaging	1.00
IGL00736:Megf10	APN	18	57292710	missense	probably benign	0.35
IGL01631:Megf10	APN	18	57259797	missense	possibly damaging	0.61
IGL02488:Megf10	APN	18	57292632	missense	probably damaging	1.00
IGL02747:Megf10	APN	18	57290493	missense	probably benign	0.43
IGL03298:Megf10	APN	18	57283838	nonsense	probably null
deep	UTSW	18	57262131	missense	probably damaging	1.00
megalodon	UTSW	18	57287976	nonsense	probably null
sharkie	UTSW	18	57191185	nonsense	probably null
IGL03046:Megf10	UTSW	18	57287983	missense	possibly damaging	0.95
PIT4696001:Megf10	UTSW	18	57277688	missense	probably damaging	1.00
R0020:Megf10	UTSW	18	57287893	missense	possibly damaging	0.81
R0020:Megf10	UTSW	18	57287893	missense	possibly damaging	0.81
R0115:Megf10	UTSW	18	57259802	missense	possibly damaging	0.67
R0455:Megf10	UTSW	18	57252982	missense	probably benign	0.34
R0602:Megf10	UTSW	18	57262100	missense	probably damaging	0.98
R0652:Megf10	UTSW	18	57277724	missense	probably benign	0.00
R0658:Megf10	UTSW	18	57252896	missense	probably benign	0.00
R0761:Megf10	UTSW	18	57287976	nonsense	probably null
R1013:Megf10	UTSW	18	57261219	missense	probably benign	0.00
R1130:Megf10	UTSW	18	57262006	missense	probably benign	0.06
R1451:Megf10	UTSW	18	57252859	missense	probably damaging	0.97
R1699:Megf10	UTSW	18	57277730	splice site	probably null
R1729:Megf10	UTSW	18	57240792	critical splice donor site	probably null
R1784:Megf10	UTSW	18	57240792	critical splice donor site	probably null
R1870:Megf10	UTSW	18	57191185	nonsense	probably null
R1961:Megf10	UTSW	18	57212354	missense	probably damaging	0.97
R2094:Megf10	UTSW	18	57281713	nonsense	probably null
R2213:Megf10	UTSW	18	57288009	nonsense	probably null
R2853:Megf10	UTSW	18	57293931	missense	probably damaging	1.00
R3772:Megf10	UTSW	18	57283862	missense	probably benign	0.39
R3774:Megf10	UTSW	18	57277105	missense	probably damaging	1.00
R3775:Megf10	UTSW	18	57277105	missense	probably damaging	1.00
R3776:Megf10	UTSW	18	57277105	missense	probably damaging	1.00
R3858:Megf10	UTSW	18	57275835	splice site	probably benign
R3911:Megf10	UTSW	18	57289393	missense	probably damaging	0.99
R3966:Megf10	UTSW	18	57180574	missense	probably damaging	1.00
R4043:Megf10	UTSW	18	57259798	missense	probably damaging	0.98
R4131:Megf10	UTSW	18	57180535	missense	probably damaging	1.00
R4598:Megf10	UTSW	18	57189603	critical splice donor site	probably null
R4598:Megf10	UTSW	18	57287812	missense	probably damaging	1.00
R4726:Megf10	UTSW	18	57287792	missense	probably benign	0.32
R4765:Megf10	UTSW	18	57287794	missense	possibly damaging	0.56
R4874:Megf10	UTSW	18	57293858	missense	probably benign	0.00
R4928:Megf10	UTSW	18	57240673	missense	probably benign
R5412:Megf10	UTSW	18	57191147	missense	probably damaging	0.99
R5901:Megf10	UTSW	18	57277108	missense	probably benign	0.11
R6015:Megf10	UTSW	18	57253028	missense	probably benign	0.01
R6036:Megf10	UTSW	18	57242727	missense	probably damaging	1.00
R6036:Megf10	UTSW	18	57242727	missense	probably damaging	1.00
R6041:Megf10	UTSW	18	57180549	missense	probably benign
R6369:Megf10	UTSW	18	57261187	missense	probably benign	0.06
R6479:Megf10	UTSW	18	57246570	missense	possibly damaging	0.76
R6489:Megf10	UTSW	18	57291807	missense	probably benign	0.01
R7228:Megf10	UTSW	18	57189589	missense	probably damaging	1.00
R7296:Megf10	UTSW	18	57275753	missense	probably damaging	1.00
R7437:Megf10	UTSW	18	57262131	missense	probably damaging	1.00
R7461:Megf10	UTSW	18	57252853	missense	probably damaging	0.98
R7488:Megf10	UTSW	18	57191115	missense	probably damaging	0.99
R7492:Megf10	UTSW	18	57291794	missense	probably benign	0.00
R7542:Megf10	UTSW	18	57189570	missense	probably benign	0.07
R7636:Megf10	UTSW	18	57276989	missense	possibly damaging	0.85
R7646:Megf10	UTSW	18	57293999	unclassified	probably benign
R7650:Megf10	UTSW	18	57293999	unclassified	probably benign
R7713:Megf10	UTSW	18	57293999	unclassified	probably benign
R7714:Megf10	UTSW	18	57293999	unclassified	probably benign
R7716:Megf10	UTSW	18	57293999	unclassified	probably benign
R7796:Megf10	UTSW	18	57277659	missense	possibly damaging	0.85
R7915:Megf10	UTSW	18	57240735	missense	probably benign	0.05
R8221:Megf10	UTSW	18	57283821	missense	probably benign	0.00
R8527:Megf10	UTSW	18	57292718	missense	probably benign	0.00
R8559:Megf10	UTSW	18	57240627	missense	probably damaging	1.00
R8786:Megf10	UTSW	18	57294027	unclassified	probably benign
RF003:Megf10	UTSW	18	57294027	unclassified	probably benign
Z1176:Megf10	UTSW	18	57277694	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATTCCTATCAGATCGGGGCCATCG -3'
(R):5'- ACTGGCTGTTCAGCAGAGACTATCC -3'

Sequencing Primer
(F):5'- AGGAAGGAATCAAGCATGCC -3'
(R):5'- cacacacacacacacacacac -3'

Posted On

2013-07-11