Mutagenetix > Incidental Mutation

Incidental Mutation 'R0973:Cd46'

500368

Institutional Source

Beutler Lab

Gene Symbol

Cd46

Ensembl Gene

ENSMUSG00000016493

Gene Name

CD46 antigen, complement regulatory protein

Synonyms

CD46, Mcp

MMRRC Submission

039102-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0973 (G1)

Quality Score

156

Status

Not validated

Chromosome

Chromosomal Location

195036826-195092249 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 195041992 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 366 (*366W)

Ref Sequence

ENSEMBL: ENSMUSP00000123931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159563] [ENSMUST00000162650]

AlphaFold

O88174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083614

Predicted Effect

probably benign
Transcript: ENSMUST00000159563

SMART Domains

Protein: ENSMUSP00000123901
Gene: ENSMUSG00000016493

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
CCP	45	104	6.7e-3	SMART
CCP	109	168	3.87e-8	SMART
CCP	173	234	2.14e-10	SMART
CCP	239	294	1.06e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161772

Predicted Effect

probably null
Transcript: ENSMUST00000162650
AA Change: *366W

SMART Domains

Protein: ENSMUSP00000123931
Gene: ENSMUSG00000016493
AA Change: *366W

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
CCP	45	104	6.7e-3	SMART
CCP	109	168	3.87e-8	SMART
CCP	173	234	2.14e-10	SMART
CCP	239	294	1.06e-14	SMART
transmembrane domain	328	350	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194584

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

93% (38/41)

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 type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous mutation of this gene results in increased litter sizes sired by mutant males. Another homozygous null mouse shows increased susceptibility to induced choroid neovascularization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 184,033,505	S119N	probably benign	Het
4930503L19Rik	T	A	18: 70,467,926		probably null	Het
5430419D17Rik	T	C	7: 131,238,182	L611P	probably damaging	Het
Adam18	T	C	8: 24,647,853	T324A	probably benign	Het
Adamts20	T	A	15: 94,286,371	Q1517L	probably benign	Het
AI429214	A	G	8: 36,994,319	Q207R	probably benign	Het
Arhgef7	A	G	8: 11,819,659	T432A	possibly damaging	Het
Atad2b	A	G	12: 5,031,784	N1231S	probably benign	Het
Atp13a1	T	C	8: 69,802,144		probably null	Het
Atp6v0a1	T	A	11: 101,055,491	L770*	probably null	Het
Atp8b3	T	C	10: 80,534,198	N127S	probably damaging	Het
B3gnt5	T	A	16: 19,770,010	D326E	probably damaging	Het
Birc6	T	A	17: 74,565,861	S372T	probably damaging	Het
Btbd9	T	A	17: 30,299,633	D451V	probably damaging	Het
Cdh18	T	A	15: 23,473,995	D650E	probably damaging	Het
Cenpc1	A	T	5: 86,037,908	V248E	probably damaging	Het
Cep152	A	G	2: 125,594,899	S574P	probably benign	Het
Chd2	A	G	7: 73,478,664	S858P	probably damaging	Het
Cib4	T	C	5: 30,488,594	D110G	probably damaging	Het
Col9a2	T	A	4: 121,039,788		probably null	Het
Csmd2	A	T	4: 128,496,188	I2239F	possibly damaging	Het
Csmd3	C	A	15: 47,659,089	G2728V	probably damaging	Het
Cxcl1	A	T	5: 90,891,767	K85*	probably null	Het
Cyp2d11	A	G	15: 82,389,529	L416P	possibly damaging	Het
Daam1	A	C	12: 71,915,784	K90T	unknown	Het
Depdc5	T	A	5: 32,986,966	M1435K	possibly damaging	Het
Diexf	A	T	1: 193,114,703	N573K	probably damaging	Het
Dip2c	G	A	13: 9,576,908	A632T	probably damaging	Het
Dld	A	T	12: 31,334,054	I350N	probably damaging	Het
Dmtf1	T	A	5: 9,127,987	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,752,145	V3081A	probably damaging	Het
Efemp1	A	G	11: 28,854,538	E22G	probably damaging	Het
Ephb6	A	G	6: 41,614,104	D65G	probably damaging	Het
Fsip2	A	T	2: 82,977,092	T1252S	probably benign	Het
Gm13084	T	C	4: 143,811,858	Y181C	probably damaging	Het
Gm4847	A	G	1: 166,630,255	S510P	probably benign	Het
Golga4	T	C	9: 118,537,273	I365T	probably damaging	Het
Gp2	A	T	7: 119,454,543	L65Q	probably damaging	Het
Ibtk	T	C	9: 85,743,577	Y40C	probably damaging	Het
Ice1	C	A	13: 70,602,427	V1847L	probably benign	Het
Ift172	C	T	5: 31,265,355	R917H	probably benign	Het
Itgae	C	T	11: 73,138,509	Q1037*	probably null	Het
Kbtbd7	A	G	14: 79,427,430	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,025,576	T235A	probably benign	Het
Klk13	T	C	7: 43,721,158		probably null	Het
Lrfn5	G	A	12: 61,843,437	G504D	probably damaging	Het
Macf1	A	G	4: 123,476,000	V91A	possibly damaging	Het
Map6	G	A	7: 99,336,743	G821D	possibly damaging	Het
Mark1	A	C	1: 184,921,604	V167G	probably damaging	Het
Mrgprf	T	A	7: 145,308,256	L185Q	probably damaging	Het
Mtor	T	A	4: 148,550,188	V2422D	probably damaging	Het
Myh13	T	A	11: 67,332,520	I222N	probably damaging	Het
Myh7b	G	A	2: 155,620,427	C350Y	probably benign	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Olfm3	C	A	3: 115,101,986	S172R	probably benign	Het
Olfr1168	A	T	2: 88,184,978	T34S	probably benign	Het
Olfr1231	A	T	2: 89,303,184	I136N	probably damaging	Het
Olfr342	A	G	2: 36,528,008	I199V	probably benign	Het
Olfr70	A	G	4: 43,696,706	S156P	probably damaging	Het
Olfr912	T	A	9: 38,581,283	V2D	possibly damaging	Het
Pacs1	A	T	19: 5,143,829	D557E	probably damaging	Het
Pde1c	A	G	6: 56,361,815	F11L	probably benign	Het
Phactr2	T	C	10: 13,247,139	D343G	possibly damaging	Het
Piezo2	T	C	18: 63,015,802	Y2659C	probably damaging	Het
Pkd2l2	A	G	18: 34,428,252	T438A	probably damaging	Het
Pld2	T	C	11: 70,557,081	W857R	probably damaging	Het
Plxnb1	T	C	9: 109,102,142	V410A	possibly damaging	Het
Ptger2	A	G	14: 44,989,500	Y179C	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rcan1	A	T	16: 92,393,520	M177K	probably benign	Het
Rilpl1	A	G	5: 124,501,871	S156P	probably benign	Het
Rilpl1	A	G	5: 124,501,888	I122T	possibly damaging	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
Rpa1	C	T	11: 75,312,973		probably null	Het
Saxo2	A	G	7: 82,634,870	V260A	probably benign	Het
Sel1l	T	C	12: 91,824,860	Y309C	probably damaging	Het
Setd1b	GCCCCCCC	GCCCCCCCCCCCCC	5: 123,160,703		probably benign	Het
Slc33a1	A	G	3: 63,943,304	F533S	probably benign	Het
Slc38a4	C	T	15: 97,005,858	V421M	probably benign	Het
Snx14	A	G	9: 88,400,721		probably null	Het
Spef2	A	G	15: 9,716,396	F368S	probably damaging	Het
Sri	A	T	5: 8,059,381	Q55L	probably damaging	Het
Stat4	A	G	1: 52,096,820	I429M	probably damaging	Het
Stkld1	A	T	2: 26,951,450	Q469L	probably benign	Het
Tm9sf1	T	C	14: 55,642,935	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,883,218	T122A	probably benign	Het
Tmem59l	G	A	8: 70,486,060	P124S	possibly damaging	Het
Tmem81	G	A	1: 132,507,924	R156Q	probably damaging	Het
Trpv6	T	A	6: 41,625,188	T396S	probably benign	Het
Usp24	T	A	4: 106,371,079	Y780*	probably null	Het
Vmn1r120	A	G	7: 21,053,016	C257R	probably damaging	Het
Vmn2r53	A	G	7: 12,601,392	F114L	probably damaging	Het
Vwf	A	G	6: 125,643,006	E1549G	probably damaging	Het
Zfp626	G	A	7: 27,818,482	R296H	probably damaging	Het

Other mutations in Cd46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02429:Cd46	APN	1	195085424	missense	probably benign	0.01
IGL03029:Cd46	APN	1	195086143	missense	probably benign	0.43
R0269:Cd46	UTSW	1	195064688	missense	probably benign	0.00
R0375:Cd46	UTSW	1	195086164	missense	probably benign	0.00
R0627:Cd46	UTSW	1	195092186	missense	probably benign	0.03
R0784:Cd46	UTSW	1	195092194	missense	possibly damaging	0.96
R0892:Cd46	UTSW	1	195082612	missense	possibly damaging	0.78
R0973:Cd46	UTSW	1	195041992	makesense	probably null
R0974:Cd46	UTSW	1	195041992	makesense	probably null
R1224:Cd46	UTSW	1	195062398	missense	possibly damaging	0.66
R1716:Cd46	UTSW	1	195077809	missense	probably benign	0.21
R1863:Cd46	UTSW	1	195083623	missense	probably damaging	1.00
R2000:Cd46	UTSW	1	195077704	missense	probably benign	0.00
R2152:Cd46	UTSW	1	195062413	missense	probably benign	0.42
R2153:Cd46	UTSW	1	195062413	missense	probably benign	0.42
R4452:Cd46	UTSW	1	195085360	missense	possibly damaging	0.84
R4860:Cd46	UTSW	1	195062396	missense	possibly damaging	0.94
R4860:Cd46	UTSW	1	195062396	missense	possibly damaging	0.94
R4934:Cd46	UTSW	1	195082799	intron	probably benign
R5156:Cd46	UTSW	1	195085385	missense	possibly damaging	0.90
R5287:Cd46	UTSW	1	195062411	missense	possibly damaging	0.65
R5303:Cd46	UTSW	1	195062399	missense	probably benign
R5403:Cd46	UTSW	1	195062411	missense	possibly damaging	0.65
R5487:Cd46	UTSW	1	195068170	critical splice acceptor site	probably null
R5505:Cd46	UTSW	1	195085380	missense	possibly damaging	0.88
R5538:Cd46	UTSW	1	195068170	critical splice acceptor site	probably null
R6721:Cd46	UTSW	1	195083631	missense	probably damaging	1.00
R6731:Cd46	UTSW	1	195083467	splice site	probably null
R7226:Cd46	UTSW	1	195042006	missense	possibly damaging	0.84
R7633:Cd46	UTSW	1	195083619	missense	probably null	0.01
R8277:Cd46	UTSW	1	195064722	missense	probably damaging	0.96
R8672:Cd46	UTSW	1	195082641	missense	probably benign	0.09
R9153:Cd46	UTSW	1	195092171	missense	possibly damaging	0.88
R9435:Cd46	UTSW	1	195085412	missense	probably damaging	0.99
R9455:Cd46	UTSW	1	195062396	missense	possibly damaging	0.94

Predicted Primers

Posted On

2017-12-01