Mutagenetix > Incidental Mutation

Incidental Mutation 'R1699:Megf10'

192569

Institutional Source

Beutler Lab

Gene Symbol

Megf10

Ensembl Gene

ENSMUSG00000024593

Gene Name

multiple EGF-like-domains 10

Synonyms

LOC240312, 3000002B06Rik

MMRRC Submission

039732-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R1699 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57266162-57430539 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 57410802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116814 (fasta)

Gene Model

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

AlphaFold

Q6DIB5

Predicted Effect

probably null
Transcript: ENSMUST00000075770

SMART Domains

Protein: ENSMUSP00000075174
Gene: ENSMUSG00000024593

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 null
Transcript: ENSMUST00000139892

SMART Domains

Protein: ENSMUSP00000116814
Gene: ENSMUSG00000024593

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: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,337,363 (GRCm39)	E2406G	possibly damaging	Het
Adam6b	T	A	12: 113,454,205 (GRCm39)	F341I	probably benign	Het
Adam8	A	T	7: 139,563,224 (GRCm39)	N767K	possibly damaging	Het
Aig1	T	C	10: 13,744,366 (GRCm39)	D46G	possibly damaging	Het
Alms1	A	G	6: 85,599,862 (GRCm39)	I2032V	possibly damaging	Het
Ankrd16	A	G	2: 11,789,204 (GRCm39)	I264V	probably benign	Het
Areg	T	G	5: 91,291,357 (GRCm39)	V100G	probably damaging	Het
Bcan	A	G	3: 87,896,543 (GRCm39)	Y718H	probably damaging	Het
Brsk2	T	A	7: 141,539,200 (GRCm39)	I188N	probably damaging	Het
Cdt1	T	C	8: 123,296,722 (GRCm39)	Y203H	probably damaging	Het
Cfap119	A	T	7: 127,186,028 (GRCm39)		probably null	Het
Chil3	A	C	3: 106,067,682 (GRCm39)		probably null	Het
Ciao2b	A	G	8: 105,366,718 (GRCm39)	V132A	probably damaging	Het
Cimip2c	A	G	5: 30,641,210 (GRCm39)		probably null	Het
Cth	A	G	3: 157,613,073 (GRCm39)	L253P	probably damaging	Het
Cyp11b1	A	G	15: 74,712,666 (GRCm39)	F132L	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah11	A	G	12: 118,154,603 (GRCm39)	S226P	probably damaging	Het
Egfr	A	T	11: 16,809,019 (GRCm39)	Q71L	probably benign	Het
Eml6	T	A	11: 29,696,282 (GRCm39)	K1940*	probably null	Het
Epn2	T	A	11: 61,414,014 (GRCm39)	K391*	probably null	Het
Erich1	A	T	8: 14,140,259 (GRCm39)	S2T	possibly damaging	Het
Evi5	A	C	5: 107,966,786 (GRCm39)	L245R	probably damaging	Het
Evpl	T	C	11: 116,118,414 (GRCm39)	Y731C	probably damaging	Het
Exoc3l	G	A	8: 106,021,645 (GRCm39)	H128Y	probably benign	Het
Extl1	G	A	4: 134,091,894 (GRCm39)	Q320*	probably null	Het
Fam91a1	T	A	15: 58,304,797 (GRCm39)	S416T	probably benign	Het
Fat3	A	T	9: 15,849,694 (GRCm39)	S3903T	probably damaging	Het
Fer1l4	A	G	2: 155,871,605 (GRCm39)	F1392L	probably benign	Het
Fstl4	T	C	11: 53,059,005 (GRCm39)	I488T	possibly damaging	Het
Gak	A	T	5: 108,752,243 (GRCm39)	Y338*	probably null	Het
Garin4	T	A	1: 190,896,018 (GRCm39)	E208D	probably benign	Het
Glp2r	T	C	11: 67,648,367 (GRCm39)	T112A	probably benign	Het
Glrb	G	A	3: 80,769,081 (GRCm39)	T180I	probably damaging	Het
Gm10118	C	T	10: 63,762,671 (GRCm39)		probably benign	Het
Gpr19	A	T	6: 134,847,192 (GRCm39)	F72I	possibly damaging	Het
Grin3b	C	A	10: 79,811,716 (GRCm39)	N740K	probably damaging	Het
Gstk1	A	T	6: 42,223,535 (GRCm39)	T42S	probably benign	Het
Hoxd1	G	A	2: 74,594,626 (GRCm39)	A294T	probably benign	Het
Hspg2	T	A	4: 137,275,323 (GRCm39)		probably null	Het
Ift74	A	T	4: 94,573,940 (GRCm39)	N472I	probably benign	Het
Il1a	C	T	2: 129,144,813 (GRCm39)	D202N	probably damaging	Het
Islr	T	C	9: 58,064,778 (GRCm39)	D243G	probably damaging	Het
Kif21a	C	T	15: 90,843,946 (GRCm39)	E1098K	probably damaging	Het
Krtap16-1	T	C	11: 99,876,852 (GRCm39)	E184G	probably damaging	Het
Lrp1b	A	G	2: 41,075,974 (GRCm39)	I1889T	possibly damaging	Het
Mcpt4	A	G	14: 56,297,416 (GRCm39)	*247Q	probably null	Het
Mettl2	T	A	11: 105,030,544 (GRCm39)	H373Q	probably benign	Het
Mocos	A	G	18: 24,816,273 (GRCm39)	K617E	probably damaging	Het
Ms4a8a	A	G	19: 11,053,761 (GRCm39)	I115T	probably damaging	Het
Ndst1	T	C	18: 60,828,580 (GRCm39)	Y658C	probably damaging	Het
Nin	G	A	12: 70,077,712 (GRCm39)	A1031V	probably benign	Het
Nin	C	A	12: 70,092,337 (GRCm39)	K657N	possibly damaging	Het
Noc4l	G	A	5: 110,797,713 (GRCm39)	R344*	probably null	Het
Notch2	T	C	3: 98,052,443 (GRCm39)	S1980P	probably damaging	Het
Npat	C	T	9: 53,473,960 (GRCm39)	S584L	probably benign	Het
Nphp4	A	G	4: 152,581,121 (GRCm39)	T102A	probably damaging	Het
Olfml2b	A	G	1: 170,472,642 (GRCm39)	N51S	possibly damaging	Het
Or2n1e	A	G	17: 38,585,932 (GRCm39)	K90R	probably benign	Het
Or2y16	T	A	11: 49,335,116 (GRCm39)	I146N	possibly damaging	Het
Or5al1	T	C	2: 85,990,280 (GRCm39)	I145V	probably benign	Het
Or5w22	A	G	2: 87,362,427 (GRCm39)	T17A	probably benign	Het
Pced1b	T	A	15: 97,282,758 (GRCm39)	W266R	probably damaging	Het
Pdcd6ip	A	G	9: 113,507,422 (GRCm39)	V378A	probably damaging	Het
Pde8b	T	A	13: 95,169,374 (GRCm39)	K683N	probably damaging	Het
Pfas	T	G	11: 68,888,872 (GRCm39)		probably null	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plcd4	T	G	1: 74,587,394 (GRCm39)	S51R	probably benign	Het
Plekhh2	T	A	17: 84,884,612 (GRCm39)	Y775*	probably null	Het
Polr3a	G	A	14: 24,534,232 (GRCm39)	P91L	probably damaging	Het
Ppp4r3b	C	T	11: 29,163,765 (GRCm39)	T47I	possibly damaging	Het
Pter	A	T	2: 12,999,572 (GRCm39)	D169V	probably damaging	Het
Ptpn12	A	G	5: 21,203,168 (GRCm39)	S537P	probably benign	Het
Ptpru	T	A	4: 131,506,361 (GRCm39)	D1067V	probably damaging	Het
Rcn1	A	T	2: 105,229,350 (GRCm39)	D67E	probably damaging	Het
Rfc4	T	C	16: 22,932,983 (GRCm39)	E318G	probably benign	Het
Samd13	C	A	3: 146,368,469 (GRCm39)	R41L	probably benign	Het
Shoc1	T	C	4: 59,113,926 (GRCm39)	K13R	unknown	Het
Slc6a2	T	C	8: 93,699,440 (GRCm39)	I156T	possibly damaging	Het
Spag16	T	C	1: 70,036,015 (GRCm39)	F348L	probably benign	Het
Spag4	T	C	2: 155,907,342 (GRCm39)	Y21H	probably damaging	Het
Stam2	G	A	2: 52,593,187 (GRCm39)	A368V	possibly damaging	Het
Stc1	A	T	14: 69,275,776 (GRCm39)	M190L	probably benign	Het
Stxbp1	A	G	2: 32,690,629 (GRCm39)	L475P	probably damaging	Het
Syn3	A	T	10: 85,916,075 (GRCm39)	Y304N	probably damaging	Het
Tbc1d15	G	T	10: 115,056,219 (GRCm39)	T251K	probably benign	Het
Tbpl2	A	T	2: 23,985,057 (GRCm39)	M29K	probably benign	Het
Tead3	T	G	17: 28,553,698 (GRCm39)	Q170H	possibly damaging	Het
Tpbpb	T	C	13: 61,049,977 (GRCm39)	N51D	probably benign	Het
Tstd3	A	G	4: 21,759,400 (GRCm39)	M124T	probably benign	Het
Ttyh1	T	A	7: 4,122,695 (GRCm39)	H14Q	possibly damaging	Het
Tubgcp4	G	A	2: 121,020,374 (GRCm39)	W449*	probably null	Het
Txndc11	A	G	16: 10,905,639 (GRCm39)		probably null	Het
Usp24	T	A	4: 106,296,024 (GRCm39)	D2615E	probably damaging	Het
Vars1	A	G	17: 35,233,734 (GRCm39)	E1020G	possibly damaging	Het
Vmn2r58	A	G	7: 41,509,951 (GRCm39)	I542T	probably benign	Het
Vwf	A	G	6: 125,620,032 (GRCm39)	Y1570C	probably damaging	Het
Vwf	A	T	6: 125,662,863 (GRCm39)	Y2749F	possibly damaging	Het
Zfand1	A	C	3: 10,406,115 (GRCm39)	V198G	possibly damaging	Het
Zfp536	G	A	7: 37,268,879 (GRCm39)	T179I	probably damaging	Het
Zfp599	T	C	9: 22,161,700 (GRCm39)	Y155C	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
R0630:Megf10	UTSW	18	57,421,067 (GRCm39)	missense	probably benign	0.14
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
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'- TTGTGTTTATTCACAGTGTGTCCCAGT -3'
(R):5'- GGCAAGCTTTGGTTACATAGAGCcat -3'

Sequencing Primer
(F):5'- AGTGTGTCCCAGTGGCAG -3'
(R):5'- ACTAGACCTCTTGATGGAACAG -3'

Posted On

2014-05-14