Mutagenetix > Incidental Mutation

Incidental Mutation 'R1013:Megf10'

95930

Institutional Source

Beutler Lab

Gene Symbol

Megf10

Ensembl Gene

ENSMUSG00000024593

Gene Name

multiple EGF-like-domains 10

Synonyms

LOC240312, 3000002B06Rik

MMRRC Submission

039117-MU

Accession Numbers

Essential gene?

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

Stock #

R1013 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57266162-57430539 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57394291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 472 (I472V)

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: I472V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000075174
Gene: ENSMUSG00000024593
AA Change: I472V

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: I472V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116814
Gene: ENSMUSG00000024593
AA Change: I472V

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: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.4%

Validation Efficiency

98% (39/40)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,765,702 (GRCm39)	S119N	probably benign	Het
4930527J03Rik	ACCC	ACC	1: 178,276,503 (GRCm38)		noncoding transcript	Het
Bclaf1	T	A	10: 20,207,822 (GRCm39)		probably benign	Het
Bicdl2	A	G	17: 23,884,377 (GRCm39)		probably benign	Het
C8a	T	C	4: 104,685,236 (GRCm39)	I336V	probably benign	Het
Calcr	A	T	6: 3,692,621 (GRCm39)	V374D	probably damaging	Het
Col28a1	A	G	6: 7,999,452 (GRCm39)		probably benign	Het
Cuedc1	C	T	11: 88,078,853 (GRCm39)	A327V	possibly damaging	Het
Cul2	C	A	18: 3,425,535 (GRCm39)	Y378*	probably null	Het
Dnaaf10	A	G	11: 17,178,183 (GRCm39)	K226E	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Gm8369	TG	TGNG	19: 11,489,147 (GRCm39)		probably null	Het
Hivep1	A	G	13: 42,310,438 (GRCm39)	R893G	probably damaging	Het
Il10rb	A	G	16: 91,211,581 (GRCm39)	N140D	probably benign	Het
Itga4	A	G	2: 79,150,847 (GRCm39)	M818V	probably benign	Het
Kyat3	T	C	3: 142,432,007 (GRCm39)	I245T	probably damaging	Het
Lck	C	T	4: 129,451,920 (GRCm39)	C20Y	probably damaging	Het
Mcm6	T	G	1: 128,276,778 (GRCm39)	S271R	probably benign	Het
Mroh2a	T	C	1: 88,162,334 (GRCm39)		probably null	Het
Mrpl11	T	C	19: 5,013,651 (GRCm39)	I144T	possibly damaging	Het
Or2t26	G	A	11: 49,039,977 (GRCm39)	V298M	probably damaging	Het
Or8k25	G	A	2: 86,244,319 (GRCm39)	P26S	possibly damaging	Het
Pcdhb17	A	G	18: 37,619,020 (GRCm39)	D270G	probably damaging	Het
Plg	G	A	17: 12,597,608 (GRCm39)		probably benign	Het
Ppp3cb	T	A	14: 20,574,072 (GRCm39)	E255D	probably benign	Het
Psenen	A	G	7: 30,261,802 (GRCm39)	F38S	possibly damaging	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Sorl1	T	C	9: 41,913,855 (GRCm39)	N1358S	probably benign	Het
Trim3	G	A	7: 105,267,102 (GRCm39)	P426S	probably benign	Het
Ttc28	T	C	5: 111,424,831 (GRCm39)	M1552T	probably benign	Het
Unc13c	T	C	9: 73,840,614 (GRCm39)	D79G	probably benign	Het
Zcchc14	A	G	8: 122,333,664 (GRCm39)		probably benign	Het
Zfp354a	T	C	11: 50,951,677 (GRCm39)		probably benign	Het
Zfp729a	T	C	13: 67,767,626 (GRCm39)	I868V	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
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'- GGATTGCACCTGAGTCTCCACAAC -3'
(R):5'- TGGCAACAACTTCAGAGAGGACCG -3'

Sequencing Primer
(F):5'- TGAGTCTCCACAACTTGCATAG -3'
(R):5'- TTCAGAGAGGACCGAGTTTGC -3'

Posted On

2014-01-05