Mutagenetix > Incidental Mutation

Incidental Mutation 'R1694:C1qbp'

192042

Institutional Source

Beutler Lab

Gene Symbol

C1qbp

Ensembl Gene

ENSMUSG00000018446

Gene Name

complement component 1, q subcomponent binding protein

Synonyms

HABP1, P32, D11Wsu182e

MMRRC Submission

039727-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70868672-70873852 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 70869073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000077612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018593] [ENSMUST00000078528] [ENSMUST00000108529] [ENSMUST00000178822] [ENSMUST00000169965] [ENSMUST00000171254] [ENSMUST00000167509]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000018593

SMART Domains

Protein: ENSMUSP00000018593
Gene: ENSMUSG00000018449

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	8	47	1.7e-21	PFAM
Pfam:RPA_interact_M	59	127	1.1e-14	PFAM
Pfam:RPA_interact_C	136	217	2.8e-21	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000078528

SMART Domains

Protein: ENSMUSP00000077612
Gene: ENSMUSG00000018446

Domain	Start	End	E-Value	Type
Pfam:MAM33	84	276	1.2e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108529

SMART Domains

Protein: ENSMUSP00000104169
Gene: ENSMUSG00000018449

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	7	48	7.6e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151608

Predicted Effect

probably benign
Transcript: ENSMUST00000178822

SMART Domains

Protein: ENSMUSP00000136592
Gene: ENSMUSG00000018449

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	7	48	2.7e-23	PFAM
Pfam:RPA_interact_M	58	128	5.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169965

SMART Domains

Protein: ENSMUSP00000128903
Gene: ENSMUSG00000018449

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	7	48	1e-23	PFAM
Pfam:RPA_interact_M	58	106	6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171254

SMART Domains

Protein: ENSMUSP00000133243
Gene: ENSMUSG00000018449

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	7	48	1.1e-23	PFAM
Pfam:RPA_interact_M	58	107	3.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167509

SMART Domains

Protein: ENSMUSP00000127315
Gene: ENSMUSG00000018449

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	7	48	2.7e-23	PFAM
Pfam:RPA_interact_M	58	128	5.1e-16	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality by E11.5 with poor development, small embryo size, pale and anemic organs, poor cellular proliferation and impaired mitochondrial electron transport chain function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	T	C	10: 120,614,533 (GRCm39)		probably benign	Het
4930447C04Rik	C	T	12: 72,931,992 (GRCm39)		probably null	Het
Abca16	A	G	7: 120,119,307 (GRCm39)	H1017R	probably damaging	Het
Actl11	A	G	9: 107,807,207 (GRCm39)	Y510C	probably damaging	Het
Agbl2	A	G	2: 90,631,664 (GRCm39)	T341A	probably damaging	Het
Agbl5	A	G	5: 31,050,726 (GRCm39)	Y458C	probably damaging	Het
Akap5	C	T	12: 76,376,698 (GRCm39)	S710L	probably damaging	Het
Akr1c21	A	G	13: 4,625,177 (GRCm39)	E36G	probably damaging	Het
Arhgap44	A	G	11: 64,944,023 (GRCm39)	S163P	probably damaging	Het
Armc1	A	G	3: 19,189,050 (GRCm39)	V205A	possibly damaging	Het
Asph	A	G	4: 9,610,869 (GRCm39)	L102P	probably damaging	Het
Brca1	T	C	11: 101,422,925 (GRCm39)	E74G	probably damaging	Het
Brms1l	A	G	12: 55,888,385 (GRCm39)	R58G	probably damaging	Het
Calcrl	A	T	2: 84,169,631 (GRCm39)	L350H	probably damaging	Het
Casr	A	T	16: 36,315,953 (GRCm39)	F706I	probably damaging	Het
Ceacam10	T	A	7: 24,480,491 (GRCm39)	N87K	probably benign	Het
Cfap206	G	T	4: 34,719,058 (GRCm39)	T316K	probably damaging	Het
Col4a3	A	T	1: 82,668,384 (GRCm39)		probably null	Het
Comtd1	A	G	14: 21,897,398 (GRCm39)	V183A	probably damaging	Het
Crygs	A	T	16: 22,625,425 (GRCm39)		probably null	Het
Dact1	C	A	12: 71,359,551 (GRCm39)	T139K	probably damaging	Het
Dlx6	T	C	6: 6,867,173 (GRCm39)	W259R	probably damaging	Het
Dnah9	G	T	11: 65,845,650 (GRCm39)	S627*	probably null	Het
Dnajc11	T	A	4: 152,063,730 (GRCm39)	V442D	probably damaging	Het
Dnajc21	A	T	15: 10,451,649 (GRCm39)	S393T	probably benign	Het
Dpysl3	C	A	18: 43,461,439 (GRCm39)	C584F	possibly damaging	Het
Efcab14	A	G	4: 115,603,736 (GRCm39)	K138R	possibly damaging	Het
Ephb3	A	G	16: 21,040,495 (GRCm39)	E577G	probably damaging	Het
Exoc3	C	T	13: 74,338,184 (GRCm39)		probably null	Het
Fam171a1	A	G	2: 3,226,660 (GRCm39)	S473G	probably benign	Het
Fbxl2	A	T	9: 113,832,239 (GRCm39)	F58L	probably damaging	Het
Fmo6	T	C	1: 162,750,241 (GRCm39)	M272V	probably benign	Het
Gm10000	T	C	12: 104,442,859 (GRCm39)		probably benign	Het
Grik1	T	A	16: 87,746,956 (GRCm39)	D442V	probably damaging	Het
Hectd1	A	G	12: 51,791,375 (GRCm39)	Y2588H	probably damaging	Het
Insrr	A	C	3: 87,711,369 (GRCm39)	T430P	probably benign	Het
Lats1	T	C	10: 7,577,709 (GRCm39)	S278P	probably benign	Het
Lrch4	A	G	5: 137,636,723 (GRCm39)	T463A	probably benign	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Lyst	T	G	13: 13,835,746 (GRCm39)	F1809L	probably damaging	Het
Mad2l1bp	A	G	17: 46,463,770 (GRCm39)	Y85H	possibly damaging	Het
Magoh	G	T	4: 107,740,362 (GRCm39)	R82L	probably benign	Het
Mdfic2	A	C	6: 98,215,100 (GRCm39)	S174R	probably damaging	Het
Mlh1	A	G	9: 111,057,543 (GRCm39)	V756A	probably damaging	Het
Mlh3	T	C	12: 85,313,915 (GRCm39)	E757G	probably damaging	Het
Mycbp2	T	C	14: 103,464,947 (GRCm39)	T1339A	probably damaging	Het
Myh7b	A	T	2: 155,455,113 (GRCm39)	E46V	probably damaging	Het
Naalad2	T	A	9: 18,238,683 (GRCm39)	R677S	probably damaging	Het
Nadsyn1	G	A	7: 143,361,749 (GRCm39)	T324I	probably benign	Het
Neo1	A	T	9: 58,787,886 (GRCm39)	L1389Q	probably damaging	Het
Nlrp1b	A	G	11: 71,107,681 (GRCm39)		probably null	Het
Nup210	A	C	6: 91,039,785 (GRCm39)	I690S	probably benign	Het
Or55b3	A	T	7: 102,126,547 (GRCm39)	S177T	probably benign	Het
Or5an11	T	A	19: 12,246,281 (GRCm39)	I229N	probably damaging	Het
Or9r7	T	A	10: 129,962,123 (GRCm39)	I268F	possibly damaging	Het
Otud7a	C	A	7: 63,383,458 (GRCm39)	H316N	probably damaging	Het
Pcdh15	T	C	10: 74,429,995 (GRCm39)	S1241P	probably damaging	Het
Pclo	A	G	5: 14,570,977 (GRCm39)	K121E	probably damaging	Het
Pcmtd1	A	T	1: 7,217,872 (GRCm39)	I107L	probably benign	Het
Pde6c	A	G	19: 38,168,673 (GRCm39)	I755V	probably damaging	Het
Pes1	CGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGG	11: 3,927,719 (GRCm39)		probably benign	Het
Pi4ka	A	T	16: 17,113,240 (GRCm39)	I1532N	probably damaging	Het
Pla2r1	A	G	2: 60,271,428 (GRCm39)		probably null	Het
Plb1	A	G	5: 32,474,621 (GRCm39)	N661S	probably null	Het
Plekhd1	A	G	12: 80,769,095 (GRCm39)	K452E	possibly damaging	Het
Prr12	C	A	7: 44,678,003 (GRCm39)	V2003F	unknown	Het
Ptger1	G	A	8: 84,395,107 (GRCm39)	G195R	probably benign	Het
Ptpn4	T	C	1: 119,711,240 (GRCm39)	Q67R	probably damaging	Het
Rgsl1	C	T	1: 153,680,422 (GRCm39)	R760H	probably damaging	Het
Rock1	A	G	18: 10,136,094 (GRCm39)		probably null	Het
Rtn1	T	C	12: 72,270,298 (GRCm39)	Y71C	probably damaging	Het
Rtp4	T	C	16: 23,431,870 (GRCm39)	*62Q	probably null	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,026,745 (GRCm39)		probably benign	Het
Scimp	G	T	11: 70,684,618 (GRCm39)	P78H	probably damaging	Het
Scn8a	C	A	15: 100,853,409 (GRCm39)	S132*	probably null	Het
Set	A	G	2: 29,959,436 (GRCm39)	I124M	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Sgce	A	G	6: 4,689,709 (GRCm39)	S375P	probably damaging	Het
Slc4a1ap	G	C	5: 31,701,098 (GRCm39)	E600Q	probably damaging	Het
Slit1	A	G	19: 41,626,031 (GRCm39)	V577A	possibly damaging	Het
Sqstm1	A	G	11: 50,098,307 (GRCm39)	V153A	probably benign	Het
Src	A	G	2: 157,311,675 (GRCm39)	M468V	possibly damaging	Het
Srrm3	A	G	5: 135,902,079 (GRCm39)		probably benign	Het
Stk11ip	C	T	1: 75,504,030 (GRCm39)	R257W	probably damaging	Het
Tfrc	T	A	16: 32,433,443 (GRCm39)	D32E	probably damaging	Het
Tor1aip2	A	T	1: 155,941,031 (GRCm39)	I446L	probably benign	Het
Trmt11	T	C	10: 30,411,221 (GRCm39)	H424R	probably benign	Het
Urb1	A	G	16: 90,563,928 (GRCm39)	Y1612H	probably benign	Het
Vcan	A	T	13: 89,836,602 (GRCm39)	S2981T	probably damaging	Het
Vdac1	G	C	11: 52,265,190 (GRCm39)	G21A	probably damaging	Het
Vmn2r76	A	G	7: 85,879,356 (GRCm39)	S315P	probably benign	Het
Xpo1	A	G	11: 23,231,399 (GRCm39)	T328A	probably benign	Het
Xrcc5	C	T	1: 72,358,255 (GRCm39)	L197F	possibly damaging	Het
Zfhx2	G	C	14: 55,311,401 (GRCm39)	S431C	possibly damaging	Het
Zfp410	C	T	12: 84,372,494 (GRCm39)	P54S	probably benign	Het
Zfp560	C	A	9: 20,259,282 (GRCm39)	G527*	probably null	Het
Zfp775	A	G	6: 48,596,389 (GRCm39)	T88A	possibly damaging	Het
Zfp780b	T	A	7: 27,663,808 (GRCm39)	H249L	possibly damaging	Het

Other mutations in C1qbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2100:C1qbp	UTSW	11	70,868,928 (GRCm39)	missense	probably benign	0.27
R4529:C1qbp	UTSW	11	70,869,550 (GRCm39)	missense	probably benign
R4790:C1qbp	UTSW	11	70,870,856 (GRCm39)	nonsense	probably null
R4816:C1qbp	UTSW	11	70,873,190 (GRCm39)	unclassified	probably benign
R5702:C1qbp	UTSW	11	70,869,570 (GRCm39)	missense	probably benign	0.00
R5886:C1qbp	UTSW	11	70,873,008 (GRCm39)	missense	probably benign	0.00
R7425:C1qbp	UTSW	11	70,869,073 (GRCm39)	splice site	probably null
R7425:C1qbp	UTSW	11	70,869,072 (GRCm39)	critical splice acceptor site	probably null
R7604:C1qbp	UTSW	11	70,869,598 (GRCm39)	missense	probably damaging	1.00
R8420:C1qbp	UTSW	11	70,869,543 (GRCm39)	missense	possibly damaging	0.92
R8711:C1qbp	UTSW	11	70,869,313 (GRCm39)	missense	probably benign	0.01
R9317:C1qbp	UTSW	11	70,868,929 (GRCm39)	missense	probably benign	0.13
R9683:C1qbp	UTSW	11	70,873,749 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-05-14