Mutagenetix > Incidental Mutation

Incidental Mutation 'R4022:Megf8'

313303

Institutional Source

Beutler Lab

Gene Symbol

Megf8

Ensembl Gene

ENSMUSG00000045039

Gene Name

multiple EGF-like-domains 8

Synonyms

m687Ddg, b2b1702Clo, Egfl4, b2b288Clo

MMRRC Submission

040956-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R4022 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25016589-25065342 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25037200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 700 (V700A)

Ref Sequence

ENSEMBL: ENSMUSP00000122192 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000128119
AA Change: V700A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122192
Gene: ENSMUSG00000045039
AA Change: V700A

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

Meta Mutation Damage Score

0.1720

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (58/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abo	T	A	2: 26,733,812 (GRCm39)	Y131F	probably damaging	Het
Adcy4	C	T	14: 56,012,635 (GRCm39)		probably null	Het
Ago3	T	A	4: 126,262,386 (GRCm39)	N388I	probably benign	Het
Arfgef2	G	T	2: 166,715,865 (GRCm39)	V1385L	probably benign	Het
Camk2a	A	T	18: 61,097,000 (GRCm39)	K28*	probably null	Het
Ccdc180	T	A	4: 45,904,560 (GRCm39)	Y385*	probably null	Het
Cd209g	A	T	8: 4,185,955 (GRCm39)	Q46L	possibly damaging	Het
Cdh22	T	C	2: 164,999,173 (GRCm39)	T220A	probably benign	Het
Cltc	A	T	11: 86,611,174 (GRCm39)	C562S	probably damaging	Het
Cyp2c55	T	A	19: 39,023,878 (GRCm39)		probably null	Het
Cyp2d34	A	G	15: 82,502,809 (GRCm39)	V139A	probably benign	Het
Ddias	G	T	7: 92,510,686 (GRCm39)	D105E	possibly damaging	Het
Dhx30	T	C	9: 109,913,465 (GRCm39)	D1223G	possibly damaging	Het
Dnajb11	A	G	16: 22,688,196 (GRCm39)	D238G	probably damaging	Het
Entpd7	G	A	19: 43,679,597 (GRCm39)	R50Q	probably benign	Het
Erbb2	T	G	11: 98,326,123 (GRCm39)	C966W	probably benign	Het
Exoc1	C	T	5: 76,697,417 (GRCm39)	T405I	possibly damaging	Het
Fbxo28	T	C	1: 182,157,475 (GRCm39)	N108S	possibly damaging	Het
Fhdc1	T	C	3: 84,352,409 (GRCm39)	E157G	probably benign	Het
Gstcd	C	T	3: 132,787,829 (GRCm39)	V290M	probably damaging	Het
Hps3	A	G	3: 20,089,425 (GRCm39)	V2A	possibly damaging	Het
Ilrun	T	C	17: 28,005,236 (GRCm39)	E107G	probably damaging	Het
Itsn2	G	A	12: 4,674,927 (GRCm39)	R23H	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lax1	C	T	1: 133,610,774 (GRCm39)	G105S	probably benign	Het
Lin7c	G	T	2: 109,726,790 (GRCm39)		probably null	Het
Lrrn2	T	C	1: 132,866,852 (GRCm39)	V639A	probably benign	Het
Luzp1	T	C	4: 136,269,504 (GRCm39)	S576P	probably benign	Het
Mast4	G	A	13: 102,875,829 (GRCm39)	R1112*	probably null	Het
Mast4	G	T	13: 102,990,377 (GRCm39)	A48E	probably damaging	Het
Mat2a	G	A	6: 72,413,227 (GRCm39)	R168C	probably damaging	Het
Mroh2a	G	C	1: 88,173,764 (GRCm39)	A871P	probably damaging	Het
Myh2	G	T	11: 67,070,230 (GRCm39)	E421*	probably null	Het
Or12d2	T	A	17: 37,625,165 (GRCm39)	I37L	probably benign	Het
Or5k17	T	C	16: 58,746,483 (GRCm39)	I150M	possibly damaging	Het
Pecam1	T	C	11: 106,545,986 (GRCm39)	N693D	probably benign	Het
Ppip5k1	C	T	2: 121,168,108 (GRCm39)	R715H	probably damaging	Het
Prune2	A	G	19: 16,977,384 (GRCm39)	T40A	probably damaging	Het
Ranbp17	G	A	11: 33,429,189 (GRCm39)	A352V	probably benign	Het
Reln	T	C	5: 22,432,628 (GRCm39)	Q124R	probably benign	Het
Rnf17	C	T	14: 56,697,458 (GRCm39)	H451Y	probably damaging	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Sall3	T	A	18: 81,013,055 (GRCm39)	E1127V	probably benign	Het
Sertad3	A	G	7: 27,176,120 (GRCm39)	N185D	probably damaging	Het
Sox1	A	G	8: 12,446,719 (GRCm39)	Y120C	probably damaging	Het
Spag17	A	T	3: 99,956,546 (GRCm39)	I881F	probably benign	Het
Spart	G	T	3: 55,025,157 (GRCm39)	V251L	probably damaging	Het
Stard9	A	G	2: 120,534,636 (GRCm39)	E3631G	probably benign	Het
Syde2	A	G	3: 145,721,480 (GRCm39)	T848A	probably benign	Het
Tmem11	T	C	11: 60,756,154 (GRCm39)	D12G	possibly damaging	Het
Trim28	T	C	7: 12,762,485 (GRCm39)		probably benign	Het
Tsen2	T	A	6: 115,524,948 (GRCm39)	V49E	probably damaging	Het
Tspan1	C	T	4: 116,024,232 (GRCm39)	M10I	probably benign	Het
Uncx	A	T	5: 139,532,444 (GRCm39)	T170S	probably damaging	Het
Usp24	T	C	4: 106,236,421 (GRCm39)		probably benign	Het
Vmn1r84	T	C	7: 12,095,857 (GRCm39)	I267V	probably benign	Het
Zfp488	T	A	14: 33,693,110 (GRCm39)	M18L	probably benign	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
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
R4620:Megf8	UTSW	7	25,054,523 (GRCm39)	missense	possibly damaging	0.92
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'- CTCTGAATTTGGTCCCTAGAGG -3'
(R):5'- TCACCATGTTCTCAGTGTCAG -3'

Sequencing Primer
(F):5'- GGAAGATGGGCAAGTTGACTTAATTC -3'
(R):5'- ATGTTCTCAGTGTCAGGGCCTC -3'

Posted On

2015-04-30