Mutagenetix > Incidental Mutation

Incidental Mutation 'R8221:Megf10'

636734

Institutional Source

Beutler Lab

Gene Symbol

Megf10

Ensembl Gene

ENSMUSG00000024593

Gene Name

multiple EGF-like-domains 10

Synonyms

3000002B06Rik, LOC240312

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R8221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57133090-57297467 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57283821 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 754 (D754G)

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: D754G

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

SMART Domains

Protein: ENSMUSP00000075174
Gene: ENSMUSG00000024593
AA Change: D754G

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: D754G

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

SMART Domains

Protein: ENSMUSP00000116814
Gene: ENSMUSG00000024593
AA Change: D754G

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

0.1119

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (74/74)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,519,750	F134S	probably damaging	Het
Acsl5	T	C	19: 55,268,830		probably null	Het
Adam29	G	T	8: 55,872,428	N330K	probably benign	Het
Adgrv1	A	G	13: 81,528,914	S1933P	probably benign	Het
Afap1l2	T	C	19: 56,914,392	H785R	probably damaging	Het
Ahnak	T	A	19: 9,010,436	L3028*	probably null	Het
Ajuba	T	C	14: 54,570,390	T462A	possibly damaging	Het
Ankrd36	A	G	11: 5,584,016	N289S	possibly damaging	Het
Ankrd46	A	T	15: 36,485,855	L84Q	probably damaging	Het
Ankrd54	T	G	15: 79,056,070	D163A	probably damaging	Het
Arhgef28	A	G	13: 98,145,556	L10P	probably benign	Het
Atm	A	T	9: 53,455,988		probably null	Het
Azin1	G	C	15: 38,492,328	F312L	probably damaging	Het
BC080695	T	G	4: 143,571,960	Y158D	probably benign	Het
C2cd4c	A	G	10: 79,612,648	S222P	probably damaging	Het
Cdyl	A	G	13: 35,816,164	T143A	probably benign	Het
Clhc1	G	A	11: 29,553,751	V56I	possibly damaging	Het
Cntn4	T	C	6: 106,509,510	S300P	probably benign	Het
Col12a1	A	G	9: 79,643,942	Y2131H	probably damaging	Het
Cyp3a41b	A	G	5: 145,569,380	S287P	probably benign	Het
Dctn4	A	G	18: 60,556,329	D424G	probably benign	Het
Dnajb8	C	T	6: 88,222,958	R159C	possibly damaging	Het
Dopey2	A	G	16: 93,749,959	T284A	probably benign	Het
E330034G19Rik	A	C	14: 24,296,067		probably null	Het
Ehhadh	G	A	16: 21,762,623	P540S	possibly damaging	Het
Emsy	T	C	7: 98,647,904	E24G	probably damaging	Het
F930015N05Rik	A	C	11: 64,435,592	L74W	unknown	Het
Fat1	A	G	8: 44,953,353	D1047G		Het
Galnt7	A	G	8: 57,552,566	V211A	possibly damaging	Het
Gdap2	T	C	3: 100,202,295	C543R	unknown	Het
Ghr	A	C	15: 3,333,419	D190E	probably benign	Het
Glrx	A	G	13: 75,847,227	M89V	probably benign	Het
Gm10323	A	C	13: 66,852,795	Y91*	noncoding transcript	Het
Gnb4	A	T	3: 32,590,035	D153E	possibly damaging	Het
Gnptab	G	T	10: 88,440,392		probably null	Het
Grip2	T	C	6: 91,785,684	D193G	possibly damaging	Het
Igsf3	T	C	3: 101,439,722	W658R	probably damaging	Het
Ip6k1	T	A	9: 108,045,916	F416I	probably benign	Het
Klhl1	T	G	14: 96,280,110	T377P	possibly damaging	Het
Lrrc38	G	A	4: 143,350,733	G189R	probably damaging	Het
Lrrfip1	T	C	1: 91,115,156	S428P	probably benign	Het
Mrgprx2	T	A	7: 48,482,779	Y97F	probably benign	Het
Msantd2	T	G	9: 37,489,388	V22G	probably damaging	Het
Myl6b	T	C	10: 128,497,340	K11R	unknown	Het
Nab2	C	A	10: 127,662,776	V475L	probably benign	Het
Npas1	T	C	7: 16,455,965	E552G	probably damaging	Het
Pknox2	T	C	9: 36,909,744	N274S	possibly damaging	Het
Pmepa1	A	T	2: 173,227,907	L247Q	probably damaging	Het
Poll	T	C	19: 45,553,608	K420E	probably damaging	Het
Polr2a	A	G	11: 69,737,518	V1283A	probably benign	Het
Ppil4	A	T	10: 7,795,680	Y36F	probably benign	Het
Psd2	C	T	18: 35,980,425	R317W	probably damaging	Het
Pspc1	T	A	14: 56,778,159	M1L	probably benign	Het
Qrsl1	A	T	10: 43,882,084	F338I	possibly damaging	Het
Rcor3	A	G	1: 192,130,449	Y77H	unknown	Het
Sbno2	G	A	10: 80,070,011	P157L	probably benign	Het
Scn10a	C	T	9: 119,617,763	V1400I	probably damaging	Het
Setd3	C	G	12: 108,107,353	G555A	possibly damaging	Het
Slc12a4	A	T	8: 105,951,969	M245K	probably benign	Het
Slc1a5	T	A	7: 16,781,977	L26Q	probably benign	Het
Slc38a3	T	G	9: 107,657,709	M156L	probably damaging	Het
Slc45a2	A	T	15: 11,001,147	I111F	probably benign	Het
Slc4a3	T	A	1: 75,552,166	M491K	probably benign	Het
Son	A	G	16: 91,656,846	D827G	probably damaging	Het
Sppl2c	A	T	11: 104,186,884	H170L	probably damaging	Het
St6gal2	T	A	17: 55,490,934		probably null	Het
Taf4b	T	A	18: 14,898,049	L830H	probably damaging	Het
Tex22	A	G	12: 113,075,076		probably null	Het
Tiam2	C	T	17: 3,518,585	R1669C	probably damaging	Het
Tmprss15	T	A	16: 79,024,335	N506I	probably damaging	Het
Topors	A	T	4: 40,260,686	I866K	unknown	Het
Trip12	G	T	1: 84,766,050	T512K	possibly damaging	Het
Ubr1	T	A	2: 120,961,104	H133L	probably damaging	Het
Wwtr1	T	C	3: 57,459,020	D422G	probably damaging	Het
Zfp689	A	C	7: 127,444,586	C291G	probably damaging	Het
Zfyve9	A	G	4: 108,719,680	L68P	possibly damaging	Het
Zswim5	G	T	4: 116,878,022	R188L	probably benign	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
R7492:Megf10	UTSW	18	57291794	missense	probably benign	0.00
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
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'- TGAAGGAGCCCAGACTTGAG -3'
(R):5'- GGCAATTAACCGTCAGTCACATG -3'

Sequencing Primer
(F):5'- TCCAAGCAGCCCTGTGATAG -3'
(R):5'- GTCACATGACTCAAGCTGCAG -3'

Posted On

2020-07-13