Mutagenetix > Incidental Mutation

Incidental Mutation 'R0630:Megf10'

57892

Institutional Source

Beutler Lab

Gene Symbol

Megf10

Ensembl Gene

ENSMUSG00000024593

Gene Name

multiple EGF-like-domains 10

Synonyms

LOC240312, 3000002B06Rik

MMRRC Submission

038819-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R0630 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57266162-57430539 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57421067 bp (GRCm39)

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]

AlphaFold

Q6DIB5

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: 183,766,104 (GRCm39)		probably benign	Het
4930562C15Rik	T	A	16: 4,668,803 (GRCm39)	N731K	possibly damaging	Het
Adgra1	A	T	7: 139,432,500 (GRCm39)	K113*	probably null	Het
Adgrl2	T	C	3: 148,544,880 (GRCm39)	I659M	probably damaging	Het
Adm	G	T	7: 110,227,755 (GRCm39)	R41L	probably damaging	Het
Aimp2	T	C	5: 143,843,419 (GRCm39)	E97G	probably benign	Het
Aox1	T	C	1: 58,376,480 (GRCm39)		probably benign	Het
Arhgap20	G	A	9: 51,760,684 (GRCm39)	R809H	probably damaging	Het
Arsa	T	C	15: 89,358,207 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,294,547 (GRCm39)	A88S	probably damaging	Het
Atm	G	A	9: 53,442,922 (GRCm39)		probably benign	Het
Atp1a2	A	T	1: 172,118,842 (GRCm39)	I100N	possibly damaging	Het
Camta2	G	C	11: 70,569,131 (GRCm39)	L605V	probably damaging	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Ccdc60	A	G	5: 116,274,440 (GRCm39)	V388A	possibly damaging	Het
Cdk14	C	T	5: 5,185,422 (GRCm39)		probably benign	Het
Cdyl2	C	T	8: 117,350,774 (GRCm39)	G119E	probably benign	Het
Celsr3	A	G	9: 108,704,891 (GRCm39)	N458S	probably damaging	Het
Chd3	A	C	11: 69,238,021 (GRCm39)	H1808Q	probably damaging	Het
Cntnap2	T	C	6: 46,965,694 (GRCm39)	V835A	probably damaging	Het
Col4a1	C	A	8: 11,249,889 (GRCm39)		probably benign	Het
Cpsf1	A	G	15: 76,486,171 (GRCm39)	V357A	probably damaging	Het
Cryzl1	A	G	16: 91,504,107 (GRCm39)		probably benign	Het
Cts8	T	C	13: 61,401,256 (GRCm39)	K90R	possibly damaging	Het
Cux1	A	G	5: 136,315,689 (GRCm39)	V1117A	probably damaging	Het
Dbx1	T	C	7: 49,282,444 (GRCm39)	T254A	probably damaging	Het
Dgki	C	A	6: 36,977,133 (GRCm39)	C659F	probably damaging	Het
Dnajc1	T	G	2: 18,236,612 (GRCm39)	D332A	probably damaging	Het
Dock8	C	A	19: 25,038,524 (GRCm39)	T70K	probably benign	Het
Dsc1	T	A	18: 20,218,919 (GRCm39)	T828S	probably damaging	Het
Dst	T	G	1: 34,232,531 (GRCm39)	V3510G	probably benign	Het
Dst	T	C	1: 34,238,554 (GRCm39)	V1738A	probably damaging	Het
Ehmt2	A	G	17: 35,118,818 (GRCm39)	T167A	probably benign	Het
Eri2	A	T	7: 119,385,640 (GRCm39)	V287E	probably benign	Het
Fat4	T	A	3: 39,054,321 (GRCm39)	L4121H	probably damaging	Het
Fbn1	T	A	2: 125,236,690 (GRCm39)	D330V	possibly damaging	Het
Fign	A	G	2: 63,810,485 (GRCm39)	Y262H	possibly damaging	Het
Fnd3c2	C	T	X: 105,282,763 (GRCm39)	M593I	probably benign	Het
Fndc7	T	A	3: 108,783,931 (GRCm39)	E226V	probably damaging	Het
Gad2	A	T	2: 22,580,348 (GRCm39)	Q583L	probably benign	Het
Gcn1	G	A	5: 115,719,148 (GRCm39)	A334T	probably benign	Het
Ggt1	A	G	10: 75,421,336 (GRCm39)		probably null	Het
Gli2	C	T	1: 118,769,648 (GRCm39)	G635R	possibly damaging	Het
Gm10253	T	C	3: 88,646,420 (GRCm39)	E93G	unknown	Het
Gm10428	A	G	11: 62,644,256 (GRCm39)		probably benign	Het
Gm7104	T	C	12: 88,252,479 (GRCm39)		noncoding transcript	Het
Gm8258	T	G	5: 104,924,385 (GRCm39)		noncoding transcript	Het
Gpr107	A	G	2: 31,104,309 (GRCm39)	N538S	possibly damaging	Het
Hars1	T	C	18: 36,904,442 (GRCm39)	E190G	probably damaging	Het
Hoxc10	C	T	15: 102,875,917 (GRCm39)	P209S	probably benign	Het
Ighg3	T	C	12: 113,323,714 (GRCm39)		probably benign	Het
Igsf10	C	A	3: 59,233,483 (GRCm39)	W1750L	probably damaging	Het
Igsf5	C	A	16: 96,174,023 (GRCm39)		probably benign	Het
Itga10	T	C	3: 96,563,615 (GRCm39)		probably benign	Het
Ldhd	T	C	8: 112,353,934 (GRCm39)	K422R	probably benign	Het
Masp1	T	C	16: 23,271,169 (GRCm39)	K693R	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Mbd1	T	A	18: 74,409,798 (GRCm39)		probably benign	Het
Mdm4	G	A	1: 132,919,491 (GRCm39)	T459I	possibly damaging	Het
Mta3	A	G	17: 84,022,056 (GRCm39)	N37S	probably damaging	Het
Mterf3	T	A	13: 67,060,372 (GRCm39)	Y372F	probably damaging	Het
Nbeal2	A	G	9: 110,465,102 (GRCm39)		probably benign	Het
Nbr1	T	C	11: 101,457,913 (GRCm39)		probably benign	Het
Ndst3	A	G	3: 123,355,720 (GRCm39)	M103T	probably damaging	Het
Notch3	C	A	17: 32,366,446 (GRCm39)		probably benign	Het
Npr2	A	T	4: 43,641,219 (GRCm39)	E415V	probably benign	Het
Or2n1c	A	G	17: 38,519,304 (GRCm39)	H56R	probably damaging	Het
Or4k40	T	C	2: 111,251,191 (GRCm39)	Y35C	probably damaging	Het
Or52h9	G	C	7: 104,202,998 (GRCm39)	V291L	probably benign	Het
Or5be3	A	T	2: 86,863,653 (GRCm39)	M304K	probably benign	Het
Or8b50	T	A	9: 38,518,192 (GRCm39)	F144I	probably benign	Het
Pappa2	T	A	1: 158,660,343 (GRCm39)	D1246V	probably benign	Het
Pcdhgc5	A	T	18: 37,954,931 (GRCm39)	D735V	probably benign	Het
Pik3ca	A	G	3: 32,504,176 (GRCm39)	Y622C	possibly damaging	Het
Plppr2	A	G	9: 21,859,197 (GRCm39)	D438G	probably benign	Het
Ppfibp2	A	T	7: 107,337,806 (GRCm39)		probably null	Het
Prdm15	A	T	16: 97,638,907 (GRCm39)	L77Q	probably null	Het
Prdm8	T	C	5: 98,332,380 (GRCm39)	S94P	probably damaging	Het
Prkdc	A	T	16: 15,628,665 (GRCm39)	Q3470L	probably damaging	Het
Prl3c1	T	C	13: 27,384,674 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,688,076 (GRCm39)	H206L	probably benign	Het
Rack1	G	A	11: 48,694,804 (GRCm39)		probably benign	Het
Rere	T	C	4: 150,703,545 (GRCm39)	L1509P	probably damaging	Het
Rgma	T	A	7: 73,067,366 (GRCm39)	L301Q	probably damaging	Het
Rgs6	T	A	12: 83,094,324 (GRCm39)		probably benign	Het
Rictor	C	A	15: 6,823,973 (GRCm39)	R1613S	probably damaging	Het
Ripk1	T	G	13: 34,211,764 (GRCm39)	F358C	probably damaging	Het
Robo2	T	C	16: 73,713,093 (GRCm39)	D1217G	probably benign	Het
Shc2	A	T	10: 79,461,975 (GRCm39)	W357R	probably null	Het
Slc25a45	T	C	19: 5,930,556 (GRCm39)	L81P	probably damaging	Het
Slc9c1	A	T	16: 45,363,483 (GRCm39)		probably benign	Het
Spats2	T	C	15: 99,083,909 (GRCm39)		probably null	Het
Stac3	A	T	10: 127,343,632 (GRCm39)	E258V	probably damaging	Het
Thada	A	G	17: 84,536,603 (GRCm39)	S1648P	probably damaging	Het
Tmem168	T	C	6: 13,583,064 (GRCm39)	T222A	probably benign	Het
Tmtc4	T	C	14: 123,163,502 (GRCm39)		probably benign	Het
Trappc14	A	G	5: 138,260,551 (GRCm39)	S292P	probably damaging	Het
Trim38	T	G	13: 23,975,115 (GRCm39)	Y351*	probably null	Het
Trip12	T	C	1: 84,771,636 (GRCm39)	R213G	possibly damaging	Het
Vav3	C	T	3: 109,331,328 (GRCm39)	R76W	probably damaging	Het
Vmn1r63	G	T	7: 5,806,263 (GRCm39)	P123H	probably damaging	Het
Wdr5	A	G	2: 27,410,619 (GRCm39)	N130S	probably benign	Het
Wnk4	C	A	11: 101,156,212 (GRCm39)	R27S	probably damaging	Het
Ykt6	G	A	11: 5,909,323 (GRCm39)	S44N	probably benign	Het
Ythdc1	T	A	5: 86,957,207 (GRCm39)		probably benign	Het

Other mutations in Megf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Megf10	APN	18	57,373,700 (GRCm39)	missense	probably damaging	1.00
IGL00736:Megf10	APN	18	57,425,782 (GRCm39)	missense	probably benign	0.35
IGL01631:Megf10	APN	18	57,392,869 (GRCm39)	missense	possibly damaging	0.61
IGL02488:Megf10	APN	18	57,425,704 (GRCm39)	missense	probably damaging	1.00
IGL02747:Megf10	APN	18	57,423,565 (GRCm39)	missense	probably benign	0.43
IGL03298:Megf10	APN	18	57,416,910 (GRCm39)	nonsense	probably null
deep	UTSW	18	57,395,203 (GRCm39)	missense	probably damaging	1.00
megalodon	UTSW	18	57,421,048 (GRCm39)	nonsense	probably null
sharkie	UTSW	18	57,324,257 (GRCm39)	nonsense	probably null
IGL03046:Megf10	UTSW	18	57,421,055 (GRCm39)	missense	possibly damaging	0.95
PIT4696001:Megf10	UTSW	18	57,410,760 (GRCm39)	missense	probably damaging	1.00
R0020:Megf10	UTSW	18	57,420,965 (GRCm39)	missense	possibly damaging	0.81
R0020:Megf10	UTSW	18	57,420,965 (GRCm39)	missense	possibly damaging	0.81
R0115:Megf10	UTSW	18	57,392,874 (GRCm39)	missense	possibly damaging	0.67
R0455:Megf10	UTSW	18	57,386,054 (GRCm39)	missense	probably benign	0.34
R0602:Megf10	UTSW	18	57,395,172 (GRCm39)	missense	probably damaging	0.98
R0652:Megf10	UTSW	18	57,410,796 (GRCm39)	missense	probably benign	0.00
R0658:Megf10	UTSW	18	57,385,968 (GRCm39)	missense	probably benign	0.00
R0761:Megf10	UTSW	18	57,421,048 (GRCm39)	nonsense	probably null
R1013:Megf10	UTSW	18	57,394,291 (GRCm39)	missense	probably benign	0.00
R1130:Megf10	UTSW	18	57,395,078 (GRCm39)	missense	probably benign	0.06
R1451:Megf10	UTSW	18	57,385,931 (GRCm39)	missense	probably damaging	0.97
R1699:Megf10	UTSW	18	57,410,802 (GRCm39)	splice site	probably null
R1729:Megf10	UTSW	18	57,373,864 (GRCm39)	critical splice donor site	probably null
R1784:Megf10	UTSW	18	57,373,864 (GRCm39)	critical splice donor site	probably null
R1870:Megf10	UTSW	18	57,324,257 (GRCm39)	nonsense	probably null
R1961:Megf10	UTSW	18	57,345,426 (GRCm39)	missense	probably damaging	0.97
R2094:Megf10	UTSW	18	57,414,785 (GRCm39)	nonsense	probably null
R2213:Megf10	UTSW	18	57,421,081 (GRCm39)	nonsense	probably null
R2853:Megf10	UTSW	18	57,427,003 (GRCm39)	missense	probably damaging	1.00
R3772:Megf10	UTSW	18	57,416,934 (GRCm39)	missense	probably benign	0.39
R3774:Megf10	UTSW	18	57,410,177 (GRCm39)	missense	probably damaging	1.00
R3775:Megf10	UTSW	18	57,410,177 (GRCm39)	missense	probably damaging	1.00
R3776:Megf10	UTSW	18	57,410,177 (GRCm39)	missense	probably damaging	1.00
R3858:Megf10	UTSW	18	57,408,907 (GRCm39)	splice site	probably benign
R3911:Megf10	UTSW	18	57,422,465 (GRCm39)	missense	probably damaging	0.99
R3966:Megf10	UTSW	18	57,313,646 (GRCm39)	missense	probably damaging	1.00
R4043:Megf10	UTSW	18	57,392,870 (GRCm39)	missense	probably damaging	0.98
R4131:Megf10	UTSW	18	57,313,607 (GRCm39)	missense	probably damaging	1.00
R4598:Megf10	UTSW	18	57,322,675 (GRCm39)	critical splice donor site	probably null
R4598:Megf10	UTSW	18	57,420,884 (GRCm39)	missense	probably damaging	1.00
R4726:Megf10	UTSW	18	57,420,864 (GRCm39)	missense	probably benign	0.32
R4765:Megf10	UTSW	18	57,420,866 (GRCm39)	missense	possibly damaging	0.56
R4874:Megf10	UTSW	18	57,426,930 (GRCm39)	missense	probably benign	0.00
R4928:Megf10	UTSW	18	57,373,745 (GRCm39)	missense	probably benign
R5412:Megf10	UTSW	18	57,324,219 (GRCm39)	missense	probably damaging	0.99
R5901:Megf10	UTSW	18	57,410,180 (GRCm39)	missense	probably benign	0.11
R6015:Megf10	UTSW	18	57,386,100 (GRCm39)	missense	probably benign	0.01
R6036:Megf10	UTSW	18	57,375,799 (GRCm39)	missense	probably damaging	1.00
R6036:Megf10	UTSW	18	57,375,799 (GRCm39)	missense	probably damaging	1.00
R6041:Megf10	UTSW	18	57,313,621 (GRCm39)	missense	probably benign
R6369:Megf10	UTSW	18	57,394,259 (GRCm39)	missense	probably benign	0.06
R6479:Megf10	UTSW	18	57,379,642 (GRCm39)	missense	possibly damaging	0.76
R6489:Megf10	UTSW	18	57,424,879 (GRCm39)	missense	probably benign	0.01
R7228:Megf10	UTSW	18	57,322,661 (GRCm39)	missense	probably damaging	1.00
R7296:Megf10	UTSW	18	57,408,825 (GRCm39)	missense	probably damaging	1.00
R7437:Megf10	UTSW	18	57,395,203 (GRCm39)	missense	probably damaging	1.00
R7461:Megf10	UTSW	18	57,385,925 (GRCm39)	missense	probably damaging	0.98
R7488:Megf10	UTSW	18	57,324,187 (GRCm39)	missense	probably damaging	0.99
R7492:Megf10	UTSW	18	57,424,866 (GRCm39)	missense	probably benign	0.00
R7542:Megf10	UTSW	18	57,322,642 (GRCm39)	missense	probably benign	0.07
R7636:Megf10	UTSW	18	57,410,061 (GRCm39)	missense	possibly damaging	0.85
R7646:Megf10	UTSW	18	57,427,071 (GRCm39)	unclassified	probably benign
R7650:Megf10	UTSW	18	57,427,071 (GRCm39)	unclassified	probably benign
R7713:Megf10	UTSW	18	57,427,071 (GRCm39)	unclassified	probably benign
R7714:Megf10	UTSW	18	57,427,071 (GRCm39)	unclassified	probably benign
R7716:Megf10	UTSW	18	57,427,071 (GRCm39)	unclassified	probably benign
R7796:Megf10	UTSW	18	57,410,731 (GRCm39)	missense	possibly damaging	0.85
R7915:Megf10	UTSW	18	57,373,807 (GRCm39)	missense	probably benign	0.05
R8221:Megf10	UTSW	18	57,416,893 (GRCm39)	missense	probably benign	0.00
R8527:Megf10	UTSW	18	57,425,790 (GRCm39)	missense	probably benign	0.00
R8559:Megf10	UTSW	18	57,373,699 (GRCm39)	missense	probably damaging	1.00
R9117:Megf10	UTSW	18	57,392,773 (GRCm39)	missense	probably damaging	1.00
R9337:Megf10	UTSW	18	57,394,252 (GRCm39)	nonsense	probably null
R9481:Megf10	UTSW	18	57,395,090 (GRCm39)	missense	probably benign	0.38
R9644:Megf10	UTSW	18	57,375,773 (GRCm39)	missense	probably benign
RF003:Megf10	UTSW	18	57,427,099 (GRCm39)	unclassified	probably benign
Z1176:Megf10	UTSW	18	57,410,766 (GRCm39)	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