Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01021:Megf8'

53700

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Megf8

Ensembl Gene

ENSMUSG00000045039

Gene Name

multiple EGF-like-domains 8

Synonyms

Egfl4, b2b1702Clo, m687Ddg, b2b288Clo

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.951) question?

Stock #

IGL01021

Quality Score

Status

Chromosome

Chromosomal Location

25317164-25365917 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25338374 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 772 (W772R)

Ref Sequence

ENSEMBL: ENSMUSP00000122192 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128119
AA Change: W772R

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122192
Gene: ENSMUSG00000045039
AA Change: W772R

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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 125,318,676	V80A	unknown	Het
Adam28	A	G	14: 68,642,114	S162P	probably benign	Het
Adamts14	G	T	10: 61,225,373	S426Y	probably damaging	Het
Ankrd24	A	G	10: 81,635,161		probably null	Het
B3galt5	C	A	16: 96,315,723	H185Q	probably benign	Het
Bod1l	A	G	5: 41,838,173		probably benign	Het
Ddx46	T	A	13: 55,666,332	Y700*	probably null	Het
Dph7	T	G	2: 24,971,923		probably null	Het
Fcho1	A	T	8: 71,713,523	Y354*	probably null	Het
Fnbp4	A	G	2: 90,777,669	M912V	probably benign	Het
Fpgt	T	A	3: 155,091,492	E42V	possibly damaging	Het
Frmd3	A	G	4: 74,074,120	I75V	possibly damaging	Het
Gm10264	G	A	12: 88,329,272	G7R	unknown	Het
Gm3278	G	T	14: 4,895,222	V159L	possibly damaging	Het
Gmds	T	C	13: 32,127,030	I205V	possibly damaging	Het
Gprin1	T	A	13: 54,740,369	S31C	probably damaging	Het
Igkv4-68	T	C	6: 69,304,881	E102G	probably damaging	Het
Itga1	T	A	13: 114,997,000	Y458F	probably benign	Het
Kif20b	T	C	19: 34,938,260	V479A	possibly damaging	Het
Muc6	T	A	7: 141,637,162	I2533F	possibly damaging	Het
Npas3	T	C	12: 54,003,560	S258P	probably damaging	Het
Padi3	T	C	4: 140,796,334		probably benign	Het
Pmfbp1	G	T	8: 109,537,993	R897L	possibly damaging	Het
Rims1	A	T	1: 22,486,620	W407R	probably damaging	Het
Scnn1b	G	T	7: 121,918,036	D632Y	probably damaging	Het
Tas2r123	G	A	6: 132,847,406	A89T	probably benign	Het
Tbk1	T	C	10: 121,551,272	E706G	probably benign	Het
Thra	A	G	11: 98,762,928	D195G	possibly damaging	Het
Tpp2	T	A	1: 43,934,187	Y33*	probably null	Het
Usp6nl	T	A	2: 6,424,387	M220K	probably damaging	Het
Vmn2r112	C	T	17: 22,618,904	T782I	probably damaging	Het
Zbtb43	T	C	2: 33,453,759	T485A	probably benign	Het
Zfat	T	C	15: 68,170,166	I840V	possibly damaging	Het

Other mutations in Megf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00639:Megf8	APN	7	25343684	missense	possibly damaging	0.87
IGL00696:Megf8	APN	7	25342392	missense	probably benign
IGL01290:Megf8	APN	7	25349658	nonsense	probably null
IGL01392:Megf8	APN	7	25363749	missense	probably benign	0.03
IGL01410:Megf8	APN	7	25359871	missense	probably benign	0.01
IGL01634:Megf8	APN	7	25358781	splice site	probably benign
IGL01648:Megf8	APN	7	25327572	missense	probably damaging	1.00
IGL01930:Megf8	APN	7	25334861	missense	probably damaging	1.00
IGL01954:Megf8	APN	7	25349014	missense	possibly damaging	0.94
IGL02150:Megf8	APN	7	25346417	splice site	probably null
IGL02192:Megf8	APN	7	25353860	missense	probably damaging	1.00
IGL02250:Megf8	APN	7	25342575	missense	probably benign	0.02
IGL02301:Megf8	APN	7	25337900	missense	probably damaging	0.96
IGL02317:Megf8	APN	7	25363788	missense	probably damaging	1.00
IGL02324:Megf8	APN	7	25340448	missense	probably benign	0.10
IGL02503:Megf8	APN	7	25363563	missense	possibly damaging	0.70
IGL02583:Megf8	APN	7	25355793	missense	probably benign
IGL02636:Megf8	APN	7	25358432	missense	probably damaging	0.99
IGL02704:Megf8	APN	7	25359782	missense	probably damaging	0.97
IGL02898:Megf8	APN	7	25346508	missense	possibly damaging	0.79
IGL03082:Megf8	APN	7	25330236	missense	probably benign
IGL03182:Megf8	APN	7	25347348	missense	possibly damaging	0.92
megatherium	UTSW	7	25342425	critical splice donor site	probably null
PIT4810001:Megf8	UTSW	7	25342285	missense	probably damaging	1.00
R0076:Megf8	UTSW	7	25353958	critical splice donor site	probably null
R0217:Megf8	UTSW	7	25364079	missense	probably damaging	0.99
R0514:Megf8	UTSW	7	25364303	missense	possibly damaging	0.86
R0561:Megf8	UTSW	7	25328832	missense	probably benign	0.21
R0563:Megf8	UTSW	7	25342395	missense	probably damaging	1.00
R0601:Megf8	UTSW	7	25328540	missense	probably benign	0.03
R0879:Megf8	UTSW	7	25338471	missense	possibly damaging	0.58
R1323:Megf8	UTSW	7	25360102	splice site	probably null
R1323:Megf8	UTSW	7	25360102	splice site	probably null
R1430:Megf8	UTSW	7	25364343	missense	possibly damaging	0.86
R1445:Megf8	UTSW	7	25342656	missense	probably damaging	0.97
R1533:Megf8	UTSW	7	25334855	missense	possibly damaging	0.70
R1606:Megf8	UTSW	7	25358695	missense	probably damaging	1.00
R1635:Megf8	UTSW	7	25346747	missense	possibly damaging	0.77
R1654:Megf8	UTSW	7	25338486	missense	possibly damaging	0.56
R1661:Megf8	UTSW	7	25363847	missense	probably damaging	1.00
R1880:Megf8	UTSW	7	25334860	missense	possibly damaging	0.68
R1962:Megf8	UTSW	7	25363551	missense	probably damaging	1.00
R2077:Megf8	UTSW	7	25353738	missense	probably benign	0.15
R2127:Megf8	UTSW	7	25364582	missense	possibly damaging	0.73
R2129:Megf8	UTSW	7	25330715	missense	probably damaging	0.98
R2199:Megf8	UTSW	7	25339614	missense	possibly damaging	0.87
R2201:Megf8	UTSW	7	25340745	missense	probably damaging	1.00
R2205:Megf8	UTSW	7	25341748	missense	probably benign	0.13
R2207:Megf8	UTSW	7	25349797	missense	probably damaging	0.97
R2361:Megf8	UTSW	7	25348954	missense	possibly damaging	0.94
R2680:Megf8	UTSW	7	25317556	missense	probably benign	0.01
R3084:Megf8	UTSW	7	25349019	missense	probably damaging	1.00
R3085:Megf8	UTSW	7	25349019	missense	probably damaging	1.00
R3086:Megf8	UTSW	7	25349019	missense	probably damaging	1.00
R3433:Megf8	UTSW	7	25360124	missense	probably benign	0.00
R3939:Megf8	UTSW	7	25359202	missense	probably benign	0.07
R4022:Megf8	UTSW	7	25337775	missense	probably damaging	1.00
R4214:Megf8	UTSW	7	25355368	missense	probably benign	0.03
R4357:Megf8	UTSW	7	25355749	missense	probably benign	0.02
R4521:Megf8	UTSW	7	25342701	missense	probably benign	0.19
R4620:Megf8	UTSW	7	25355098	missense	possibly damaging	0.92
R4700:Megf8	UTSW	7	25363515	missense	probably damaging	1.00
R4916:Megf8	UTSW	7	25339664	missense	probably benign	0.24
R4940:Megf8	UTSW	7	25360706	missense	probably damaging	1.00
R5048:Megf8	UTSW	7	25331092	missense	possibly damaging	0.71
R5258:Megf8	UTSW	7	25348326	missense	possibly damaging	0.88
R5271:Megf8	UTSW	7	25341706	missense	probably damaging	1.00
R5390:Megf8	UTSW	7	25340289	missense	possibly damaging	0.92
R5391:Megf8	UTSW	7	25340289	missense	possibly damaging	0.92
R5708:Megf8	UTSW	7	25334597	missense	probably benign	0.03
R5752:Megf8	UTSW	7	25355114	missense	probably damaging	0.97
R5930:Megf8	UTSW	7	25326441	nonsense	probably null
R6037:Megf8	UTSW	7	25364406	missense	probably damaging	1.00
R6037:Megf8	UTSW	7	25364406	missense	probably damaging	1.00
R6153:Megf8	UTSW	7	25347371	missense	possibly damaging	0.93
R6210:Megf8	UTSW	7	25343720	missense	possibly damaging	0.90
R6457:Megf8	UTSW	7	25349695	missense	probably damaging	0.99
R6659:Megf8	UTSW	7	25358734	missense	probably benign	0.38
R6867:Megf8	UTSW	7	25331035	missense	probably benign	0.42
R6896:Megf8	UTSW	7	25329932	missense	probably benign	0.00
R6899:Megf8	UTSW	7	25360713	missense	probably damaging	1.00
R6905:Megf8	UTSW	7	25337932	missense	probably benign	0.02
R7099:Megf8	UTSW	7	25346520	missense	probably damaging	0.99
R7172:Megf8	UTSW	7	25343667	missense	probably damaging	0.99
R7378:Megf8	UTSW	7	25348942	missense	probably damaging	1.00
R7427:Megf8	UTSW	7	25338371	missense	probably benign	0.44
R7492:Megf8	UTSW	7	25353848	missense	probably benign	0.24
R7699:Megf8	UTSW	7	25329928	missense	possibly damaging	0.91
R7700:Megf8	UTSW	7	25329928	missense	possibly damaging	0.91
R7756:Megf8	UTSW	7	25342425	critical splice donor site	probably null
R7758:Megf8	UTSW	7	25342425	critical splice donor site	probably null
R7786:Megf8	UTSW	7	25317695	critical splice donor site	probably null
R7797:Megf8	UTSW	7	25334597	missense	probably damaging	0.99
R7881:Megf8	UTSW	7	25340635	missense	possibly damaging	0.72
R8165:Megf8	UTSW	7	25353873	missense	probably damaging	1.00
R8258:Megf8	UTSW	7	25358423	missense	probably benign	0.03
R8259:Megf8	UTSW	7	25358423	missense	probably benign	0.03
R8328:Megf8	UTSW	7	25347492	missense	probably benign	0.05
R8362:Megf8	UTSW	7	25340518	missense	probably benign	0.04
Z1088:Megf8	UTSW	7	25339669	missense	possibly damaging	0.87
Z1177:Megf8	UTSW	7	25346162	missense	probably damaging	1.00
Z1177:Megf8	UTSW	7	25347369	missense	probably damaging	0.99

Posted On

2013-06-28