Mutagenetix > Incidental Mutation

Incidental Mutation 'R7492:Megf10'

580887

Institutional Source

Beutler Lab

Gene Symbol

Megf10

Ensembl Gene

ENSMUSG00000024593

Gene Name

multiple EGF-like-domains 10

Synonyms

3000002B06Rik, LOC240312

MMRRC Submission

045566-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R7492 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57133090-57297467 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57291794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1002 (Y1002H)

Ref Sequence

ENSEMBL: ENSMUSP00000075174 (fasta)

Gene Model

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

AlphaFold

Q6DIB5

Predicted Effect

probably benign
Transcript: ENSMUST00000075770
AA Change: Y1002H

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

SMART Domains

Protein: ENSMUSP00000075174
Gene: ENSMUSG00000024593
AA Change: Y1002H

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: Y1002H

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

SMART Domains

Protein: ENSMUSP00000116814
Gene: ENSMUSG00000024593
AA Change: Y1002H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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 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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 82,064,359	D819G	possibly damaging	Het
A830010M20Rik	G	A	5: 107,510,507	E1648K	probably benign	Het
Abca13	A	T	11: 9,293,167	I1677L	probably benign	Het
Ablim2	A	G	5: 35,841,329	S367G	probably benign	Het
Afdn	G	C	17: 13,848,376		probably null	Het
Aldh6a1	A	G	12: 84,436,866	L302P	probably damaging	Het
Ank3	A	G	10: 69,882,527	D536G	unknown	Het
Ankrd17	A	G	5: 90,233,948	V2454A	possibly damaging	Het
Apol7e	G	A	15: 77,717,456	E85K	possibly damaging	Het
Atmin	A	G	8: 116,956,918	D439G	probably damaging	Het
AU040320	G	T	4: 126,847,855	C952F	possibly damaging	Het
BC055324	A	G	1: 163,959,328	I724T	probably benign	Het
C6	A	G	15: 4,731,714	S19G	probably benign	Het
Ccdc180	A	T	4: 45,930,009		probably null	Het
Cntn1	A	C	15: 92,314,542	T862P	probably benign	Het
Col5a1	T	C	2: 27,969,800		probably null	Het
D430041D05Rik	T	C	2: 104,201,305	K964E	probably damaging	Het
Dnajc18	T	C	18: 35,686,793	Y145C	probably damaging	Het
Dsc1	C	T	18: 20,107,680	C196Y	possibly damaging	Het
Efcab11	A	C	12: 99,878,401	I58R	possibly damaging	Het
Fam81b	T	A	13: 76,271,279	I51F	probably benign	Het
Fbln1	G	A	15: 85,227,061	V139M	probably damaging	Het
Fbxw25	A	G	9: 109,664,530		probably null	Het
Fech	C	T	18: 64,467,771	W220*	probably null	Het
Fgl1	C	T	8: 41,191,587	W293*	probably null	Het
Foxi2	T	C	7: 135,410,572	L63P	probably damaging	Het
Frmpd1	A	G	4: 45,285,237	R1353G	possibly damaging	Het
Fthl17b	C	T	X: 8,962,804	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,962,808	V8M	possibly damaging	Het
Galnt5	T	A	2: 58,026,036		probably null	Het
Glb1	A	T	9: 114,473,949	I618F	probably damaging	Het
Gm13083	C	A	4: 143,616,174	Q284K	not run	Het
Hs2st1	A	T	3: 144,435,596	M237K	probably benign	Het
Ighm	T	C	12: 113,422,673	D19G		Het
Il1f10	A	G	2: 24,292,817	D35G	probably benign	Het
Itpr2	G	A	6: 146,390,938	T419I	probably damaging	Het
Khdc1a	A	T	1: 21,350,318	E54V	possibly damaging	Het
Kif19a	A	G	11: 114,790,239	D991G	probably benign	Het
Klhl18	A	C	9: 110,428,775	Y532*	probably null	Het
Lama1	T	C	17: 67,817,651	F2902S		Het
Lrba	T	C	3: 86,664,528	S2380P	probably damaging	Het
Lrp2	T	A	2: 69,537,581	I196F	probably damaging	Het
Macf1	T	C	4: 123,475,731	K1746E	possibly damaging	Het
Megf8	A	G	7: 25,353,848	T1815A	probably benign	Het
Mtg1	T	C	7: 140,144,697	L162P	probably damaging	Het
Myo6	T	A	9: 80,288,046	Y899*	probably null	Het
Nlrp9a	A	T	7: 26,557,656	D233V	probably damaging	Het
Olfr1083-ps	T	A	2: 86,606,719	N284I	unknown	Het
Olfr122	A	T	17: 37,771,680	Q9L	possibly damaging	Het
Olfr1295	C	A	2: 111,564,821	V208L	probably benign	Het
Olfr30	T	A	11: 58,455,889	N20I	probably benign	Het
Olfr770	T	A	10: 129,133,640	I43F	probably damaging	Het
Parvb	A	T	15: 84,290,450	Q148L	probably damaging	Het
Pcdhb11	C	T	18: 37,423,444	T609M	probably damaging	Het
Pcdhga3	A	T	18: 37,676,125	T544S	probably benign	Het
Pkd1	C	G	17: 24,569,741	I824M	probably benign	Het
Pkd1l2	A	T	8: 117,068,110	L370Q	probably damaging	Het
Plcb1	G	T	2: 135,251,764	E166*	probably null	Het
Pnpt1	A	G	11: 29,135,522	I138V	probably benign	Het
Pou4f3	T	C	18: 42,395,931	L313P	probably damaging	Het
Prep	A	G	10: 45,120,814	Y396C	probably damaging	Het
Prkd3	A	T	17: 78,962,545	C562*	probably null	Het
Prss12	T	A	3: 123,482,776	C351*	probably null	Het
Rnf41	C	A	10: 128,438,414	H312N	probably damaging	Het
Ror1	C	T	4: 100,441,059	T543I	probably benign	Het
Rreb1	G	A	13: 37,931,748	V1028I	probably benign	Het
Setd2	T	A	9: 110,594,632	S474T		Het
Slc1a2	T	A	2: 102,739,930	C184*	probably null	Het
Slc2a4	G	A	11: 69,946,376	T78I	probably benign	Het
Slc4a4	T	A	5: 89,129,650	I317N	possibly damaging	Het
Smad9	G	A	3: 54,786,326		probably null	Het
Sst	T	C	16: 23,889,826	E85G	probably damaging	Het
Svep1	T	G	4: 58,066,468	E3205D	possibly damaging	Het
Tmc7	G	T	7: 118,541,966	S647R	probably benign	Het
Tmem173	T	C	18: 35,738,713	Y162C	probably damaging	Het
Trnt1	T	C	6: 106,774,532	S157P	possibly damaging	Het
Ttc6	A	T	12: 57,673,136	H831L	probably benign	Het
Vmn1r121	A	G	7: 21,098,170	F115S	probably damaging	Het
Vwa7	A	G	17: 35,019,044	D207G	possibly damaging	Het
Vwde	C	A	6: 13,204,981	K300N	probably null	Het
Zfp418	A	G	7: 7,181,397	T120A	possibly damaging	Het
Zfp687	C	T	3: 95,007,530	R1220H	probably damaging	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
R0630:Megf10	UTSW	18	57287995	missense	probably benign	0.14
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
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
R9117:Megf10	UTSW	18	57259701	missense	probably damaging	1.00
R9337:Megf10	UTSW	18	57261180	nonsense	probably null
R9481:Megf10	UTSW	18	57262018	missense	probably benign	0.38
R9644:Megf10	UTSW	18	57242701	missense	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'- TCATCAGGGATGAACATGTCTG -3'
(R):5'- CCAAACAGATTCGCCAGTGG -3'

Sequencing Primer
(F):5'- ATACAGCATGCTTGGGTCCAG -3'
(R):5'- AGTGGCATTCTCTCCTTGC -3'

Posted On

2019-10-17