Mutagenetix > Incidental Mutation

Incidental Mutation 'R4874:Megf10'

376799

Institutional Source

Beutler Lab

Gene Symbol

Megf10

Ensembl Gene

ENSMUSG00000024593

Gene Name

multiple EGF-like-domains 10

Synonyms

LOC240312, 3000002B06Rik

MMRRC Submission

042484-MU

Accession Numbers

Essential gene?

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

Stock #

R4874 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57266162-57430539 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57426930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1083 (V1083I)

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: V1083I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000075174
Gene: ENSMUSG00000024593
AA Change: V1083I

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

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

Meta Mutation Damage Score

0.0597

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

94% (51/54)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	G	A	8: 60,969,147 (GRCm39)		probably null	Het
Adamtsl1	A	G	4: 86,260,729 (GRCm39)	N988S	possibly damaging	Het
Aph1b	A	T	9: 66,697,878 (GRCm39)		probably null	Het
B4galnt3	C	A	6: 120,184,167 (GRCm39)	R880L	probably damaging	Het
Bcam	T	C	7: 19,503,247 (GRCm39)		probably benign	Het
Cr2	A	T	1: 194,858,878 (GRCm39)	I14N	possibly damaging	Het
Dcdc5	T	C	2: 106,198,451 (GRCm39)		noncoding transcript	Het
Dll1	A	T	17: 15,590,501 (GRCm39)	M405K	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ern2	T	C	7: 121,775,810 (GRCm39)	D428G	probably benign	Het
Esp36	A	T	17: 38,727,987 (GRCm39)	M98K	unknown	Het
Foxd2	G	T	4: 114,764,768 (GRCm39)	H417Q	possibly damaging	Het
Glrb	T	C	3: 80,758,349 (GRCm39)	N304D	possibly damaging	Het
Haus3	A	G	5: 34,324,972 (GRCm39)	V229A	probably benign	Het
Hpgd	A	T	8: 56,770,838 (GRCm39)	I159F	possibly damaging	Het
Ighv1-22	T	A	12: 114,710,036 (GRCm39)	I70F	probably benign	Het
Il16	A	T	7: 83,310,153 (GRCm39)	F584L	possibly damaging	Het
Lamc2	T	C	1: 153,030,141 (GRCm39)	D167G	probably null	Het
Mertk	T	C	2: 128,592,079 (GRCm39)	S268P	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mki67	T	C	7: 135,310,500 (GRCm39)	D132G	probably damaging	Het
Nbas	A	G	12: 13,371,756 (GRCm39)	N419D	probably damaging	Het
Negr1	T	C	3: 156,565,082 (GRCm39)	L56S	probably damaging	Het
Nup214	A	G	2: 31,870,596 (GRCm39)		probably null	Het
Opn5	C	G	17: 42,891,610 (GRCm39)	A276P	probably damaging	Het
Or10j5	A	G	1: 172,785,166 (GRCm39)	E268G	probably benign	Het
Or2d3	C	T	7: 106,490,642 (GRCm39)	V225I	probably benign	Het
Or5t9	T	A	2: 86,659,598 (GRCm39)	H167Q	probably damaging	Het
Papln	G	T	12: 83,823,917 (GRCm39)	V499L	probably benign	Het
Pgap1	A	T	1: 54,569,296 (GRCm39)	W357R	probably damaging	Het
Pibf1	T	C	14: 99,377,992 (GRCm39)	Y373H	probably damaging	Het
Pitpnm1	T	C	19: 4,162,252 (GRCm39)		probably null	Het
Prcd	T	A	11: 116,550,597 (GRCm39)	W3R	probably null	Het
Prkaa1	A	G	15: 5,203,838 (GRCm39)	N249S	probably benign	Het
Reg3b	T	A	6: 78,349,809 (GRCm39)	N116K	possibly damaging	Het
Rpusd2	T	C	2: 118,865,360 (GRCm39)	L19P	probably benign	Het
Rufy1	T	C	11: 50,297,277 (GRCm39)	T392A	possibly damaging	Het
Sall3	T	C	18: 81,017,188 (GRCm39)	K247E	probably benign	Het
Shank1	C	T	7: 43,965,497 (GRCm39)	T191M	unknown	Het
Slit1	C	T	19: 41,717,493 (GRCm39)		probably null	Het
Sorl1	A	T	9: 41,975,048 (GRCm39)	V520E	probably damaging	Het
Vmn2r115	T	A	17: 23,578,825 (GRCm39)	F766Y	probably damaging	Het
Wdr87-ps	A	G	7: 29,235,608 (GRCm39)		noncoding transcript	Het
Zfp644	A	G	5: 106,783,279 (GRCm39)	S1032P	probably damaging	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
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	57,420,884 (GRCm39)	missense	probably damaging	1.00
R4598:Megf10	UTSW	18	57,322,675 (GRCm39)	critical splice donor site	probably null
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
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'- ACATCTGTAGAGTTCTATTCCCTG -3'
(R):5'- CACCCAGTAGTCCTTTGATGTC -3'

Sequencing Primer
(F):5'- TGTACAAGAAGTAGCAGCA -3'
(R):5'- GATGTCATTCACTGCTGCTG -3'

Posted On

2016-03-17