Mutagenetix > Incidental Mutation

Incidental Mutation 'R9592:Megf8'

723040

Institutional Source

Beutler Lab

Gene Symbol

Megf8

Ensembl Gene

ENSMUSG00000045039

Gene Name

multiple EGF-like-domains 8

Synonyms

m687Ddg, b2b1702Clo, Egfl4, b2b288Clo

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R9592 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25016589-25065342 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25028228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 264 (T264M)

Ref Sequence

ENSEMBL: ENSMUSP00000122192 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000128119
AA Change: T264M

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122192
Gene: ENSMUSG00000045039
AA Change: T264M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	G	T	9: 4,309,312 (GRCm39)	P42Q	probably benign	Het
Adat1	G	T	8: 112,709,314 (GRCm39)	P170T	probably benign	Het
Ap4e1	A	G	2: 126,903,588 (GRCm39)	D830G	probably benign	Het
Apc	T	A	18: 34,443,823 (GRCm39)	C605*	probably null	Het
Atp2b4	A	G	1: 133,659,568 (GRCm39)	S465P	probably damaging	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Cdhr3	A	G	12: 33,136,007 (GRCm39)	S78P	possibly damaging	Het
Ckap4	G	A	10: 84,364,175 (GRCm39)	T296M	probably damaging	Het
Cyp11a1	G	A	9: 57,925,605 (GRCm39)	R182H	possibly damaging	Het
Fem1b	A	T	9: 62,704,959 (GRCm39)	H100Q	probably damaging	Het
Gm5464	T	A	14: 67,106,366 (GRCm39)	M1K	probably null	Het
Igkv12-41	G	A	6: 69,835,579 (GRCm39)	Q58*	probably null	Het
Kcnq2	T	C	2: 180,728,813 (GRCm39)	Y572C	probably damaging	Het
Krt87	T	C	15: 101,386,060 (GRCm39)	T234A	probably benign	Het
Ksr2	G	A	5: 117,894,344 (GRCm39)	G828S	probably damaging	Het
Myof	A	T	19: 38,031,737 (GRCm39)	I12N	probably damaging	Het
Nsd1	T	G	13: 55,424,355 (GRCm39)	D1467E	probably damaging	Het
Nsrp1	A	T	11: 76,940,104 (GRCm39)	L167Q	probably damaging	Het
Nsun4	A	T	4: 115,908,852 (GRCm39)	H569Q	possibly damaging	Het
Or51q1	T	C	7: 103,629,179 (GRCm39)	V260A	possibly damaging	Het
Or5b105	A	G	19: 13,079,906 (GRCm39)	I254T	probably benign	Het
Pcdha7	A	T	18: 37,109,045 (GRCm39)	D690V	probably benign	Het
Pcdhb2	G	A	18: 37,429,266 (GRCm39)	R56Q	probably damaging	Het
Pcsk5	G	T	19: 17,652,899 (GRCm39)	Y262*	probably null	Het
Pdzd2	G	C	15: 12,458,106 (GRCm39)	N78K	probably damaging	Het
Pglyrp3	T	C	3: 91,938,859 (GRCm39)	F345L	probably benign	Het
Pnp2	T	A	14: 51,196,979 (GRCm39)	Y22N	probably damaging	Het
Pnp2	C	A	14: 51,196,981 (GRCm39)	Y22*	probably null	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Rmdn1	T	C	4: 19,599,660 (GRCm39)	M206T	possibly damaging	Het
Rnf166	A	T	8: 123,197,048 (GRCm39)	L68Q	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Scin	C	T	12: 40,131,746 (GRCm39)	V263I	probably benign	Het
Secisbp2l	C	A	2: 125,582,561 (GRCm39)	R965L	probably damaging	Het
Senp2	G	A	16: 21,845,435 (GRCm39)	R223Q	possibly damaging	Het
Siglecf	C	A	7: 43,001,696 (GRCm39)	P169T	probably damaging	Het
Smpdl3b	G	A	4: 132,484,438 (GRCm39)		probably benign	Het
Syt2	G	A	1: 134,671,773 (GRCm39)	V184I	possibly damaging	Het
Tecta	G	T	9: 42,250,238 (GRCm39)	N1851K	probably damaging	Het
Thbs2	A	T	17: 14,899,083 (GRCm39)	S672R	probably damaging	Het
Tmtc4	T	C	14: 123,170,815 (GRCm39)	H485R	probably damaging	Het
Tns1	A	T	1: 74,029,553 (GRCm39)	S307R	probably damaging	Het
Usp15	C	A	10: 122,999,522 (GRCm39)	W220L	probably damaging	Het
Zfp64	A	T	2: 168,768,118 (GRCm39)	V498E	probably damaging	Het
Zfp820	G	T	17: 22,038,577 (GRCm39)	S250R	probably benign	Het
Zfr2	A	T	10: 81,069,580 (GRCm39)	N2I	unknown	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
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
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'- CCTGCACTTGTGGGAGAACC -3'
(R):5'- TGTGGGCAAGAAGAAGAATCTCA -3'

Sequencing Primer
(F):5'- CCGAATTGGGGCAGCTG -3'
(R):5'- TCTCAGAATGAGCACAGAGAC -3'

Posted On

2022-08-09