Mutagenetix > Incidental Mutation

Incidental Mutation 'R4620:Megf8'

345235

Institutional Source

Beutler Lab

Gene Symbol

Megf8

Ensembl Gene

ENSMUSG00000045039

Gene Name

multiple EGF-like-domains 8

Synonyms

m687Ddg, b2b1702Clo, Egfl4, b2b288Clo

MMRRC Submission

042008-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R4620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25016589-25065342 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25054523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1880 (A1880T)

Ref Sequence

ENSEMBL: ENSMUSP00000122192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000128119]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128119
AA Change: A1880T

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122192
Gene: ENSMUSG00000045039
AA Change: A1880T

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
CUB	33	140	1.24e-15	SMART
EGF	141	170	4.26e0	SMART
EGF	173	203	2.43e1	SMART
Pfam:Kelch_4	227	277	1.3e-11	PFAM
Pfam:Kelch_3	240	287	1.6e-7	PFAM
low complexity region	320	341	N/A	INTRINSIC
low complexity region	517	531	N/A	INTRINSIC
low complexity region	728	738	N/A	INTRINSIC
PSI	847	899	1.37e0	SMART
low complexity region	932	938	N/A	INTRINSIC
PSI	949	991	2.11e-2	SMART
PSI	1005	1073	7.82e-1	SMART
EGF_CA	1074	1115	2.62e-9	SMART
EGF	1117	1160	5.4e-2	SMART
EGF_like	1163	1208	4e-1	SMART
EGF_Lam	1211	1259	1.03e-7	SMART
Blast:CUB	1263	1401	1e-30	BLAST
EGF_like	1406	1445	3.29e1	SMART
Pfam:Kelch_4	1509	1564	6.5e-12	PFAM
Pfam:Kelch_3	1520	1574	1.2e-10	PFAM
PSI	1868	1923	2.75e-1	SMART
PSI	2004	2062	1.6e0	SMART
PSI	2064	2121	1.68e-5	SMART
EGF	2125	2164	1.08e-1	SMART
EGF	2166	2194	4.26e0	SMART
EGF	2204	2244	2.2e1	SMART
EGF_like	2248	2321	6.37e-1	SMART
low complexity region	2493	2504	N/A	INTRINSIC
low complexity region	2530	2541	N/A	INTRINSIC
transmembrane domain	2592	2614	N/A	INTRINSIC
low complexity region	2649	2668	N/A	INTRINSIC
low complexity region	2674	2702	N/A	INTRINSIC
low complexity region	2759	2774	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153077

Meta Mutation Damage Score

0.1007

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for an ENU mutation exhibit varying degrees of heterotaxia and congenital heart defects. Mice homozygous for another ENU-induced mutation exhibit abnormal development and patterning of the peripheral nervous system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,945,335 (GRCm39)	Y433*	probably null	Het
Apba2	C	T	7: 64,364,215 (GRCm39)	R331C	probably damaging	Het
Apod	T	C	16: 31,116,211 (GRCm39)	D173G	probably benign	Het
B3gnt5	A	T	16: 19,588,632 (GRCm39)	M284L	probably benign	Het
Birc6	A	C	17: 74,947,145 (GRCm39)	T2955P	probably benign	Het
Blvra	T	C	2: 126,938,885 (GRCm39)	I287T	probably damaging	Het
Capn5	T	C	7: 97,778,578 (GRCm39)	Y347C	probably damaging	Het
Cdcp2	A	G	4: 106,963,927 (GRCm39)	E259G	probably damaging	Het
Cdh2	A	G	18: 16,781,665 (GRCm39)	V85A	probably benign	Het
Cdk5rap2	A	G	4: 70,184,943 (GRCm39)	I1169T	probably benign	Het
Cenpj	A	G	14: 56,772,911 (GRCm39)	V1043A	probably damaging	Het
Cfap54	T	A	10: 92,805,619 (GRCm39)	H1497L	probably benign	Het
Chat	A	G	14: 32,175,775 (GRCm39)	M95T	probably damaging	Het
Csmd1	T	C	8: 16,052,694 (GRCm39)		probably null	Het
Csmd3	T	C	15: 47,449,149 (GRCm39)	E3615G	probably benign	Het
Cyp2c68	A	T	19: 39,701,006 (GRCm39)		probably null	Het
Dll1	C	T	17: 15,590,828 (GRCm39)	A332T	probably benign	Het
Dmrta1	A	T	4: 89,577,021 (GRCm39)	Q159L	probably benign	Het
Dnai3	A	T	3: 145,748,564 (GRCm39)	L850Q	probably damaging	Het
Eci3	A	T	13: 35,132,741 (GRCm39)	M212K	probably damaging	Het
Eml4	T	C	17: 83,768,962 (GRCm39)	F557L	probably benign	Het
Fat3	A	T	9: 15,908,190 (GRCm39)	V2604D	probably damaging	Het
Frem3	T	C	8: 81,395,586 (GRCm39)	V1871A	possibly damaging	Het
Gart	T	C	16: 91,422,321 (GRCm39)	N732S	probably damaging	Het
Gas2l2	T	C	11: 83,313,924 (GRCm39)	I463V	probably benign	Het
H2-M3	C	A	17: 37,583,310 (GRCm39)	T257K	probably damaging	Het
Hdgf	A	G	3: 87,821,883 (GRCm39)	N166S	possibly damaging	Het
Hoxb3	A	T	11: 96,236,599 (GRCm39)	N226Y	probably damaging	Het
Itgav	T	C	2: 83,586,246 (GRCm39)	Y169H	probably benign	Het
Kalrn	T	G	16: 33,849,075 (GRCm39)	I426L	probably damaging	Het
Kcnh3	G	A	15: 99,131,982 (GRCm39)	V646M	probably damaging	Het
Kif6	T	C	17: 50,208,324 (GRCm39)	V735A	probably benign	Het
Krt1c	T	A	15: 101,726,026 (GRCm39)	I171F	probably damaging	Het
Miox	A	T	15: 89,220,324 (GRCm39)	Y172F	probably benign	Het
Myo18a	G	A	11: 77,708,773 (GRCm39)	R48H	possibly damaging	Het
Ndufb7	T	C	8: 84,293,487 (GRCm39)	S14P	probably damaging	Het
Npepps	A	T	11: 97,129,070 (GRCm39)	H371Q	probably damaging	Het
Or10d5j	C	T	9: 39,868,205 (GRCm39)	V9M	probably damaging	Het
Or52e15	T	A	7: 104,645,830 (GRCm39)	I94F	probably damaging	Het
Or52e19	C	T	7: 102,959,165 (GRCm39)	T79I	probably benign	Het
Or8b12c	A	G	9: 37,716,115 (GRCm39)	T303A	probably benign	Het
Orc5	A	T	5: 22,734,174 (GRCm39)	D203E	probably damaging	Het
Pappa	A	G	4: 65,245,265 (GRCm39)	T1518A	probably benign	Het
Pde6a	A	G	18: 61,395,563 (GRCm39)	D602G	probably damaging	Het
Pnliprp2	G	A	19: 58,750,718 (GRCm39)	V136I	possibly damaging	Het
Postn	A	C	3: 54,284,414 (GRCm39)	D627A	probably damaging	Het
Prpf39	T	C	12: 65,089,337 (GRCm39)	V25A	probably benign	Het
Pxdc1	A	G	13: 34,836,297 (GRCm39)	I41T	probably damaging	Het
Rab11fip1	T	A	8: 27,644,243 (GRCm39)	E514V	probably damaging	Het
Rag1	A	T	2: 101,474,025 (GRCm39)	H372Q	probably damaging	Het
Ranbp1	A	G	16: 18,057,968 (GRCm39)		probably benign	Het
Rexo5	A	G	7: 119,426,526 (GRCm39)	I317V	probably benign	Het
Rragc	A	G	4: 123,818,622 (GRCm39)	Q279R	probably damaging	Het
Sbf1	A	G	15: 89,191,129 (GRCm39)	S187P	probably damaging	Het
Senp3	T	A	11: 69,567,944 (GRCm39)	Y432F	probably benign	Het
Slfn5	G	A	11: 82,852,478 (GRCm39)	C868Y	probably damaging	Het
Sorcs2	C	T	5: 36,194,838 (GRCm39)	A722T	probably benign	Het
Sptb	A	T	12: 76,630,581 (GRCm39)	C2244*	probably null	Het
Srbd1	A	T	17: 86,416,693 (GRCm39)	F488L	probably benign	Het
Sucnr1	A	G	3: 59,994,190 (GRCm39)	I239M	possibly damaging	Het
Themis2	A	G	4: 132,513,333 (GRCm39)	W298R	probably damaging	Het
Tmem168	T	G	6: 13,594,952 (GRCm39)	N37T	probably benign	Het
Tmem62	A	G	2: 120,826,845 (GRCm39)		probably benign	Het
Tmprss15	T	C	16: 78,818,358 (GRCm39)	D524G	probably damaging	Het
Trav5-4	G	T	14: 53,941,853 (GRCm39)	M75I	probably benign	Het
Trio	T	A	15: 27,871,257 (GRCm39)	H620L	probably damaging	Het
Ubap2	C	T	4: 41,233,698 (GRCm39)	G64E	probably damaging	Het
Usp32	C	A	11: 84,949,953 (GRCm39)		probably null	Het
Wdfy3	A	T	5: 102,054,011 (GRCm39)	F1603Y	probably damaging	Het
Xpo4	A	T	14: 57,867,782 (GRCm39)	L155Q	probably damaging	Het
Zbtb21	T	C	16: 97,751,092 (GRCm39)	T1092A	possibly damaging	Het
Zfp780b	A	T	7: 27,662,178 (GRCm39)	Y792*	probably null	Het

Other mutations in Megf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00639:Megf8	APN	7	25,043,109 (GRCm39)	missense	possibly damaging	0.87
IGL00696:Megf8	APN	7	25,041,817 (GRCm39)	missense	probably benign
IGL01021:Megf8	APN	7	25,037,799 (GRCm39)	missense	probably benign	0.39
IGL01290:Megf8	APN	7	25,049,083 (GRCm39)	nonsense	probably null
IGL01392:Megf8	APN	7	25,063,174 (GRCm39)	missense	probably benign	0.03
IGL01410:Megf8	APN	7	25,059,296 (GRCm39)	missense	probably benign	0.01
IGL01634:Megf8	APN	7	25,058,206 (GRCm39)	splice site	probably benign
IGL01648:Megf8	APN	7	25,026,997 (GRCm39)	missense	probably damaging	1.00
IGL01930:Megf8	APN	7	25,034,286 (GRCm39)	missense	probably damaging	1.00
IGL01954:Megf8	APN	7	25,048,439 (GRCm39)	missense	possibly damaging	0.94
IGL02150:Megf8	APN	7	25,045,842 (GRCm39)	splice site	probably null
IGL02192:Megf8	APN	7	25,053,285 (GRCm39)	missense	probably damaging	1.00
IGL02250:Megf8	APN	7	25,042,000 (GRCm39)	missense	probably benign	0.02
IGL02301:Megf8	APN	7	25,037,325 (GRCm39)	missense	probably damaging	0.96
IGL02317:Megf8	APN	7	25,063,213 (GRCm39)	missense	probably damaging	1.00
IGL02324:Megf8	APN	7	25,039,873 (GRCm39)	missense	probably benign	0.10
IGL02503:Megf8	APN	7	25,062,988 (GRCm39)	missense	possibly damaging	0.70
IGL02583:Megf8	APN	7	25,055,218 (GRCm39)	missense	probably benign
IGL02636:Megf8	APN	7	25,057,857 (GRCm39)	missense	probably damaging	0.99
IGL02704:Megf8	APN	7	25,059,207 (GRCm39)	missense	probably damaging	0.97
IGL02898:Megf8	APN	7	25,045,933 (GRCm39)	missense	possibly damaging	0.79
IGL03082:Megf8	APN	7	25,029,661 (GRCm39)	missense	probably benign
IGL03182:Megf8	APN	7	25,046,773 (GRCm39)	missense	possibly damaging	0.92
megatherium	UTSW	7	25,041,850 (GRCm39)	critical splice donor site	probably null
PIT4810001:Megf8	UTSW	7	25,041,710 (GRCm39)	missense	probably damaging	1.00
R0076:Megf8	UTSW	7	25,053,383 (GRCm39)	critical splice donor site	probably null
R0217:Megf8	UTSW	7	25,063,504 (GRCm39)	missense	probably damaging	0.99
R0514:Megf8	UTSW	7	25,063,728 (GRCm39)	missense	possibly damaging	0.86
R0561:Megf8	UTSW	7	25,028,257 (GRCm39)	missense	probably benign	0.21
R0563:Megf8	UTSW	7	25,041,820 (GRCm39)	missense	probably damaging	1.00
R0601:Megf8	UTSW	7	25,027,965 (GRCm39)	missense	probably benign	0.03
R0879:Megf8	UTSW	7	25,037,896 (GRCm39)	missense	possibly damaging	0.58
R1323:Megf8	UTSW	7	25,059,527 (GRCm39)	splice site	probably null
R1323:Megf8	UTSW	7	25,059,527 (GRCm39)	splice site	probably null
R1430:Megf8	UTSW	7	25,063,768 (GRCm39)	missense	possibly damaging	0.86
R1445:Megf8	UTSW	7	25,042,081 (GRCm39)	missense	probably damaging	0.97
R1533:Megf8	UTSW	7	25,034,280 (GRCm39)	missense	possibly damaging	0.70
R1606:Megf8	UTSW	7	25,058,120 (GRCm39)	missense	probably damaging	1.00
R1635:Megf8	UTSW	7	25,046,172 (GRCm39)	missense	possibly damaging	0.77
R1654:Megf8	UTSW	7	25,037,911 (GRCm39)	missense	possibly damaging	0.56
R1661:Megf8	UTSW	7	25,063,272 (GRCm39)	missense	probably damaging	1.00
R1880:Megf8	UTSW	7	25,034,285 (GRCm39)	missense	possibly damaging	0.68
R1962:Megf8	UTSW	7	25,062,976 (GRCm39)	missense	probably damaging	1.00
R2077:Megf8	UTSW	7	25,053,163 (GRCm39)	missense	probably benign	0.15
R2127:Megf8	UTSW	7	25,064,007 (GRCm39)	missense	possibly damaging	0.73
R2129:Megf8	UTSW	7	25,030,140 (GRCm39)	missense	probably damaging	0.98
R2199:Megf8	UTSW	7	25,039,039 (GRCm39)	missense	possibly damaging	0.87
R2201:Megf8	UTSW	7	25,040,170 (GRCm39)	missense	probably damaging	1.00
R2205:Megf8	UTSW	7	25,041,173 (GRCm39)	missense	probably benign	0.13
R2207:Megf8	UTSW	7	25,049,222 (GRCm39)	missense	probably damaging	0.97
R2361:Megf8	UTSW	7	25,048,379 (GRCm39)	missense	possibly damaging	0.94
R2680:Megf8	UTSW	7	25,016,981 (GRCm39)	missense	probably benign	0.01
R3084:Megf8	UTSW	7	25,048,444 (GRCm39)	missense	probably damaging	1.00
R3085:Megf8	UTSW	7	25,048,444 (GRCm39)	missense	probably damaging	1.00
R3086:Megf8	UTSW	7	25,048,444 (GRCm39)	missense	probably damaging	1.00
R3433:Megf8	UTSW	7	25,059,549 (GRCm39)	missense	probably benign	0.00
R3939:Megf8	UTSW	7	25,058,627 (GRCm39)	missense	probably benign	0.07
R4022:Megf8	UTSW	7	25,037,200 (GRCm39)	missense	probably damaging	1.00
R4214:Megf8	UTSW	7	25,054,793 (GRCm39)	missense	probably benign	0.03
R4357:Megf8	UTSW	7	25,055,174 (GRCm39)	missense	probably benign	0.02
R4521:Megf8	UTSW	7	25,042,126 (GRCm39)	missense	probably benign	0.19
R4700:Megf8	UTSW	7	25,062,940 (GRCm39)	missense	probably damaging	1.00
R4916:Megf8	UTSW	7	25,039,089 (GRCm39)	missense	probably benign	0.24
R4940:Megf8	UTSW	7	25,060,131 (GRCm39)	missense	probably damaging	1.00
R5048:Megf8	UTSW	7	25,030,517 (GRCm39)	missense	possibly damaging	0.71
R5258:Megf8	UTSW	7	25,047,751 (GRCm39)	missense	possibly damaging	0.88
R5271:Megf8	UTSW	7	25,041,131 (GRCm39)	missense	probably damaging	1.00
R5390:Megf8	UTSW	7	25,039,714 (GRCm39)	missense	possibly damaging	0.92
R5391:Megf8	UTSW	7	25,039,714 (GRCm39)	missense	possibly damaging	0.92
R5708:Megf8	UTSW	7	25,034,022 (GRCm39)	missense	probably benign	0.03
R5752:Megf8	UTSW	7	25,054,539 (GRCm39)	missense	probably damaging	0.97
R5930:Megf8	UTSW	7	25,025,866 (GRCm39)	nonsense	probably null
R6037:Megf8	UTSW	7	25,063,831 (GRCm39)	missense	probably damaging	1.00
R6037:Megf8	UTSW	7	25,063,831 (GRCm39)	missense	probably damaging	1.00
R6153:Megf8	UTSW	7	25,046,796 (GRCm39)	missense	possibly damaging	0.93
R6210:Megf8	UTSW	7	25,043,145 (GRCm39)	missense	possibly damaging	0.90
R6457:Megf8	UTSW	7	25,049,120 (GRCm39)	missense	probably damaging	0.99
R6659:Megf8	UTSW	7	25,058,159 (GRCm39)	missense	probably benign	0.38
R6867:Megf8	UTSW	7	25,030,460 (GRCm39)	missense	probably benign	0.42
R6896:Megf8	UTSW	7	25,029,357 (GRCm39)	missense	probably benign	0.00
R6899:Megf8	UTSW	7	25,060,138 (GRCm39)	missense	probably damaging	1.00
R6905:Megf8	UTSW	7	25,037,357 (GRCm39)	missense	probably benign	0.02
R7099:Megf8	UTSW	7	25,045,945 (GRCm39)	missense	probably damaging	0.99
R7172:Megf8	UTSW	7	25,043,092 (GRCm39)	missense	probably damaging	0.99
R7378:Megf8	UTSW	7	25,048,367 (GRCm39)	missense	probably damaging	1.00
R7427:Megf8	UTSW	7	25,037,796 (GRCm39)	missense	probably benign	0.44
R7492:Megf8	UTSW	7	25,053,273 (GRCm39)	missense	probably benign	0.24
R7699:Megf8	UTSW	7	25,029,353 (GRCm39)	missense	possibly damaging	0.91
R7700:Megf8	UTSW	7	25,029,353 (GRCm39)	missense	possibly damaging	0.91
R7756:Megf8	UTSW	7	25,041,850 (GRCm39)	critical splice donor site	probably null
R7758:Megf8	UTSW	7	25,041,850 (GRCm39)	critical splice donor site	probably null
R7786:Megf8	UTSW	7	25,017,120 (GRCm39)	critical splice donor site	probably null
R7797:Megf8	UTSW	7	25,034,022 (GRCm39)	missense	probably damaging	0.99
R7881:Megf8	UTSW	7	25,040,060 (GRCm39)	missense	possibly damaging	0.72
R8165:Megf8	UTSW	7	25,053,298 (GRCm39)	missense	probably damaging	1.00
R8258:Megf8	UTSW	7	25,057,848 (GRCm39)	missense	probably benign	0.03
R8259:Megf8	UTSW	7	25,057,848 (GRCm39)	missense	probably benign	0.03
R8328:Megf8	UTSW	7	25,046,917 (GRCm39)	missense	probably benign	0.05
R8362:Megf8	UTSW	7	25,039,943 (GRCm39)	missense	probably benign	0.04
R8680:Megf8	UTSW	7	25,059,166 (GRCm39)	critical splice acceptor site	probably null
R9080:Megf8	UTSW	7	25,041,131 (GRCm39)	missense	probably damaging	1.00
R9297:Megf8	UTSW	7	25,030,511 (GRCm39)	missense	probably damaging	0.99
R9314:Megf8	UTSW	7	25,029,297 (GRCm39)	missense	probably damaging	0.98
R9378:Megf8	UTSW	7	25,039,840 (GRCm39)	critical splice acceptor site	probably null
R9530:Megf8	UTSW	7	25,030,124 (GRCm39)	missense	probably benign	0.30
R9557:Megf8	UTSW	7	25,058,511 (GRCm39)	missense	possibly damaging	0.86
R9592:Megf8	UTSW	7	25,028,228 (GRCm39)	missense	probably benign	0.29
R9612:Megf8	UTSW	7	25,054,488 (GRCm39)	missense	probably benign	0.40
R9629:Megf8	UTSW	7	25,043,194 (GRCm39)	missense	possibly damaging	0.76
R9643:Megf8	UTSW	7	25,046,907 (GRCm39)	missense	probably damaging	1.00
R9666:Megf8	UTSW	7	25,030,166 (GRCm39)	missense	possibly damaging	0.65
R9745:Megf8	UTSW	7	25,058,133 (GRCm39)	missense	possibly damaging	0.62
Z1088:Megf8	UTSW	7	25,039,094 (GRCm39)	missense	possibly damaging	0.87
Z1177:Megf8	UTSW	7	25,046,794 (GRCm39)	missense	probably damaging	0.99
Z1177:Megf8	UTSW	7	25,045,587 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACATGGTGGAGGCTTCTGTAG -3'
(R):5'- CACCACTTACAACGGGGAATG -3'

Sequencing Primer
(F):5'- CTTCTGTAGGACCGTGTACAAGAGAC -3'
(R):5'- CTTACAACGGGGAATGGATGCC -3'

Posted On

2015-09-25