Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01631:Megf10'

93471

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Megf10

Ensembl Gene

ENSMUSG00000024593

Gene Name

multiple EGF-like-domains 10

Synonyms

LOC240312, 3000002B06Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01631

Quality Score

Status

Chromosome

Chromosomal Location

57266162-57430539 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57392869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 422 (D422G)

Ref Sequence

ENSEMBL: ENSMUSP00000075174 (fasta)

Gene Model

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

AlphaFold

Q6DIB5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075770
AA Change: D422G

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000075174
Gene: ENSMUSG00000024593
AA Change: D422G

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: D422G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000116814
Gene: ENSMUSG00000024593
AA Change: D422G

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apip	C	A	2: 102,904,194 (GRCm39)		probably benign	Het
Arid4a	C	T	12: 71,069,036 (GRCm39)		probably benign	Het
Brwd1	C	A	16: 95,847,666 (GRCm39)	E98D	probably damaging	Het
Cactin	A	G	10: 81,159,058 (GRCm39)	E303G	probably benign	Het
Ccdc181	T	A	1: 164,107,713 (GRCm39)	I132K	possibly damaging	Het
Celsr3	A	G	9: 108,714,603 (GRCm39)	H1995R	probably benign	Het
Cog4	A	G	8: 111,608,472 (GRCm39)	E756G	probably damaging	Het
Ctsf	T	C	19: 4,908,106 (GRCm39)	L217P	probably damaging	Het
Dmp1	G	T	5: 104,360,734 (GRCm39)	R470L	probably benign	Het
Dnajc9	T	C	14: 20,438,176 (GRCm39)	D142G	probably benign	Het
Ednrb	T	A	14: 104,080,661 (GRCm39)	R84S	probably benign	Het
Gm1110	A	T	9: 26,809,212 (GRCm39)		probably null	Het
Has2	A	G	15: 56,545,072 (GRCm39)	S177P	possibly damaging	Het
Herc6	C	T	6: 57,581,092 (GRCm39)	S264F	probably benign	Het
Il1rl2	T	A	1: 40,395,974 (GRCm39)		probably null	Het
Ltbp2	A	G	12: 84,855,920 (GRCm39)		probably null	Het
Map4	A	G	9: 109,892,201 (GRCm39)		probably benign	Het
Marchf4	T	A	1: 72,491,690 (GRCm39)	K194*	probably null	Het
Mfsd2a	C	A	4: 122,843,100 (GRCm39)	A394S	probably benign	Het
Mmp27	T	C	9: 7,573,289 (GRCm39)		probably benign	Het
Mvd	A	G	8: 123,161,560 (GRCm39)	Y370H	possibly damaging	Het
Or4a81	T	C	2: 89,619,129 (GRCm39)	D189G	probably damaging	Het
Or8b55	T	A	9: 38,727,335 (GRCm39)	C179S	probably damaging	Het
Pramel31	A	G	4: 144,089,015 (GRCm39)	H111R	probably benign	Het
Ptk2	G	A	15: 73,088,220 (GRCm39)	H859Y	probably damaging	Het
Ptprq	T	A	10: 107,479,399 (GRCm39)	E1209D	probably benign	Het
Rhot1	C	T	11: 80,156,600 (GRCm39)	T636M	probably damaging	Het
Ripk2	C	A	4: 16,163,342 (GRCm39)	A19S	possibly damaging	Het
Rsbn1l	G	A	5: 21,101,569 (GRCm39)	S657L	probably damaging	Het
Rsbn1l	A	T	5: 21,101,570 (GRCm39)	S657T	probably damaging	Het
Sema6c	A	G	3: 95,077,714 (GRCm39)	T450A	probably benign	Het
Slc25a1	C	T	16: 17,743,930 (GRCm39)	C262Y	probably damaging	Het
Slfn3	T	C	11: 83,104,361 (GRCm39)	S288P	probably damaging	Het
Snrnp200	T	A	2: 127,080,744 (GRCm39)		probably benign	Het
Spata31e2	T	C	1: 26,724,495 (GRCm39)	I228M	probably damaging	Het
Ssu2	T	C	6: 112,351,843 (GRCm39)	Y294C	probably damaging	Het
Terb1	A	G	8: 105,199,496 (GRCm39)	S483P	probably damaging	Het
Tsga13	T	C	6: 30,890,501 (GRCm39)	K8E	possibly damaging	Het
Zbbx	T	G	3: 74,985,984 (GRCm39)	D351A	probably damaging	Het
Zfp454	G	T	11: 50,774,562 (GRCm39)	A37D	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
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	57,322,675 (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

Posted On

2013-12-09