Mutagenetix > Incidental Mutation

Incidental Mutation 'R7881:Megf8'

608751

Institutional Source

Beutler Lab

Gene Symbol

Megf8

Ensembl Gene

ENSMUSG00000045039

Gene Name

multiple EGF-like-domains 8

Synonyms

m687Ddg, b2b1702Clo, Egfl4, b2b288Clo

MMRRC Submission

045933-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R7881 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25016589-25065342 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25040060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 997 (V997E)

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: V997E

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122192
Gene: ENSMUSG00000045039
AA Change: V997E

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (63/65)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,685 (GRCm39)	N1030S	possibly damaging	Het
4930507D05Rik	A	G	10: 62,285,303 (GRCm39)	H9R	unknown	Het
Anks1b	T	A	10: 90,802,880 (GRCm39)	S398T	probably benign	Het
Bbox1	T	A	2: 110,122,871 (GRCm39)	K139N	probably benign	Het
Birc6	C	A	17: 74,948,666 (GRCm39)	H3047N	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camta1	G	A	4: 151,920,333 (GRCm39)	S18F	probably damaging	Het
Ccnb1ip1	T	C	14: 51,031,277 (GRCm39)	Y12C	possibly damaging	Het
Celsr3	G	A	9: 108,705,271 (GRCm39)	A585T	probably benign	Het
Col6a4	T	C	9: 105,957,497 (GRCm39)	N109S	probably benign	Het
Crisp4	A	T	1: 18,198,893 (GRCm39)	D180E	probably benign	Het
Dmxl1	T	A	18: 49,997,450 (GRCm39)	M546K	probably damaging	Het
Dnah11	C	T	12: 117,951,237 (GRCm39)	V3024I	probably benign	Het
Dnah2	T	C	11: 69,322,064 (GRCm39)	D3752G	probably damaging	Het
Dram1	G	T	10: 88,160,609 (GRCm39)	D237E	probably benign	Het
Ehbp1l1	T	C	19: 5,769,426 (GRCm39)	N626D	probably benign	Het
Elavl1	T	G	8: 4,361,763 (GRCm39)	N3T	probably damaging	Het
Fam184a	A	G	10: 53,574,589 (GRCm39)	V340A	probably benign	Het
Fer1l5	C	T	1: 36,446,117 (GRCm39)	T876M	not run	Het
Foxp2	T	A	6: 15,409,888 (GRCm39)	V471E	unknown	Het
Fstl5	G	A	3: 76,443,605 (GRCm39)	G317R	probably damaging	Het
Gm32742	T	C	9: 51,060,414 (GRCm39)	E963G	possibly damaging	Het
Gpbp1	A	T	13: 111,575,733 (GRCm39)	S257T	possibly damaging	Het
Gsdmc4	C	T	15: 63,769,568 (GRCm39)	C218Y	possibly damaging	Het
Hmg20b	T	C	10: 81,182,442 (GRCm39)	H298R	probably damaging	Het
Igf2r	A	T	17: 12,967,591 (GRCm39)	C72S	probably benign	Het
Kcnip1	A	G	11: 33,583,206 (GRCm39)	M193T	probably damaging	Het
Khdc1c	G	T	1: 21,439,899 (GRCm39)	C150F	probably benign	Het
Kmt2b	A	G	7: 30,279,208 (GRCm39)	S1485P	probably damaging	Het
Lnpep	A	G	17: 17,787,001 (GRCm39)	S533P	probably benign	Het
Mob2	T	C	7: 141,563,177 (GRCm39)	Y94C	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Npepl1	A	G	2: 173,962,387 (GRCm39)	D351G	probably damaging	Het
Nrg1	G	A	8: 32,328,352 (GRCm39)	Q213*	probably null	Het
Nrp2	A	G	1: 62,810,990 (GRCm39)	D677G	probably benign	Het
Or11h7	A	G	14: 50,890,904 (GRCm39)	E70G	probably damaging	Het
Or2b4	G	T	17: 38,116,320 (GRCm39)	G95C	probably damaging	Het
Or56a3	G	T	7: 104,735,780 (GRCm39)	V286F	probably damaging	Het
Or5aq7	G	T	2: 86,938,401 (GRCm39)	T110K	probably damaging	Het
Or5m3b	C	A	2: 85,871,814 (GRCm39)	Q52K	probably benign	Het
Or8c8	T	A	9: 38,165,406 (GRCm39)	M228K	probably benign	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454 (GRCm39)		probably benign	Het
Phaf1	C	A	8: 105,976,084 (GRCm39)	T347N	probably benign	Het
Prune2	G	A	19: 17,100,393 (GRCm39)	V1966I	possibly damaging	Het
Ptch2	A	G	4: 116,967,585 (GRCm39)	H751R	probably benign	Het
Ptges2	T	A	2: 32,292,243 (GRCm39)	M353K	probably damaging	Het
Pum3	G	A	19: 27,373,728 (GRCm39)	Q564*	probably null	Het
Qtrt1	A	G	9: 21,330,637 (GRCm39)	D279G	probably damaging	Het
Rftn1	C	T	17: 50,354,463 (GRCm39)	V300I	probably benign	Het
Robo2	T	C	16: 73,717,585 (GRCm39)	T1172A	probably benign	Het
Sdc3	A	G	4: 130,544,244 (GRCm39)	D74G	unknown	Het
Setd1b	A	G	5: 123,290,336 (GRCm39)	M768V	unknown	Het
Shld2	A	T	14: 33,989,724 (GRCm39)	M394K	possibly damaging	Het
Siglech	A	T	7: 55,422,289 (GRCm39)	H298L	probably benign	Het
Sipa1	A	T	19: 5,701,704 (GRCm39)	L977Q	probably damaging	Het
Slc9c1	G	A	16: 45,403,332 (GRCm39)	V800I	probably benign	Het
Spata31e1	A	G	13: 49,943,547 (GRCm39)	S44P	possibly damaging	Het
Spata31f1a	C	T	4: 42,851,586 (GRCm39)	C190Y	probably benign	Het
Tbc1d8	C	T	1: 39,425,104 (GRCm39)	R582Q	probably damaging	Het
Tmem247	T	A	17: 87,229,728 (GRCm39)	F190I	probably damaging	Het
Trim42	C	A	9: 97,245,070 (GRCm39)	A577S	possibly damaging	Het
Ubiad1	G	A	4: 148,528,726 (GRCm39)	T61I	probably benign	Het
Usp40	G	A	1: 87,923,435 (GRCm39)	Q279*	probably null	Het
Usp48	A	G	4: 137,360,766 (GRCm39)	N733S	probably benign	Het
Vmn2r83	A	T	10: 79,314,261 (GRCm39)	I170F	probably benign	Het
Xkr4	G	A	1: 3,286,487 (GRCm39)	P568S	probably damaging	Het
Zc3h7b	T	C	15: 81,664,679 (GRCm39)	W513R	probably damaging	Het
Zfp40	T	C	17: 23,410,440 (GRCm39)		probably benign	Het
Zfp652	T	A	11: 95,640,935 (GRCm39)	S287T	possibly damaging	Het
Znrf3	G	A	11: 5,394,533 (GRCm39)	A49V	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
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'- TGGTGCCAGTCTACTCACAC -3'
(R):5'- CCTTGTAGGCACCTGTGTAG -3'

Sequencing Primer
(F):5'- AGTCTACTCACACCTGCTTCCTG -3'
(R):5'- TCACAGATCAAGGACAGGGCATTG -3'

Posted On

2019-12-20