Mutagenetix > Incidental Mutation

Incidental Mutation 'R4816:C1qbp'

369825

Institutional Source

Beutler Lab

Gene Symbol

C1qbp

Ensembl Gene

ENSMUSG00000018446

Gene Name

complement component 1, q subcomponent binding protein

Synonyms

P32, D11Wsu182e, HABP1

MMRRC Submission

042434-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70977836-70983026 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 70982364 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018593] [ENSMUST00000078528] [ENSMUST00000108527] [ENSMUST00000108529] [ENSMUST00000124464] [ENSMUST00000178822] [ENSMUST00000171254] [ENSMUST00000167509] [ENSMUST00000169965]

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 benign
Transcript: ENSMUST00000049048

SMART Domains

Protein: ENSMUSP00000038018
Gene: ENSMUSG00000040620

Domain	Start	End	E-Value	Type
low complexity region	18	27	N/A	INTRINSIC
Blast:DEXDc	41	76	3e-16	BLAST

Predicted Effect

probably benign
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: ENSMUST00000108527

SMART Domains

Protein: ENSMUSP00000104167
Gene: ENSMUSG00000040620

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC
DEXDc	53	252	1.96e-29	SMART
HELICc	300	401	3.45e-16	SMART
HA2	461	554	3.29e-29	SMART

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

probably benign
Transcript: ENSMUST00000124464

SMART Domains

Protein: ENSMUSP00000136051
Gene: ENSMUSG00000040620

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC
low complexity region	134	145	N/A	INTRINSIC
HA2	237	330	3.29e-29	SMART
Pfam:OB_NTP_bind	364	464	7.7e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129540

Predicted Effect

probably benign
Transcript: ENSMUST00000146203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179291

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: 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

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,615,243	I248S	possibly damaging	Het
8030462N17Rik	A	T	18: 77,653,299		probably null	Het
Abcc8	C	A	7: 46,104,707	A1562S	probably benign	Het
Adam30	C	A	3: 98,162,745	D631E	possibly damaging	Het
Adgrv1	T	C	13: 81,528,674	T2013A	probably damaging	Het
Als2cr12	G	A	1: 58,670,408	A196V	probably benign	Het
Baiap3	T	A	17: 25,247,295		probably benign	Het
Bicra	T	C	7: 15,988,906	T229A	possibly damaging	Het
C2cd3	C	A	7: 100,391,019	T265K	probably benign	Het
Cacna1s	T	A	1: 136,115,269	I1331K	possibly damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,568,991		probably null	Het
Cdcp2	A	G	4: 107,106,772	Y273C	probably damaging	Het
Cdh23	A	C	10: 60,409,077	V1013G	possibly damaging	Het
Celf3	T	A	3: 94,479,222	I39N	probably damaging	Het
Cep152	A	C	2: 125,563,754	S1619R	probably damaging	Het
Cfap36	A	G	11: 29,245,108	I42T	probably damaging	Het
Cfap61	G	T	2: 146,143,100	V955L	probably damaging	Het
Cit	G	A	5: 115,908,691	D388N	probably damaging	Het
Clca3a2	T	C	3: 144,810,852	M328V	probably benign	Het
Cntn4	A	T	6: 106,550,497	I447L	probably benign	Het
Csmd3	T	C	15: 47,857,934	T1538A	possibly damaging	Het
Cstf1	A	G	2: 172,372,985	K9E	probably damaging	Het
Dip2c	T	A	13: 9,575,150	M560K	probably benign	Het
Dsg1a	A	T	18: 20,333,722	T550S	probably benign	Het
Dtnb	A	G	12: 3,749,505	E460G	probably damaging	Het
Dus1l	GAGGTAAG	GAG	11: 120,789,758		probably benign	Het
Efl1	T	A	7: 82,671,719	V120E	probably damaging	Het
Fbxl13	T	C	5: 21,484,003	Y769C	probably benign	Het
Fcho2	T	C	13: 98,806,366	Y22C	probably damaging	Het
Gbp3	T	C	3: 142,567,574	V294A	probably damaging	Het
Gls	A	G	1: 52,199,945		probably benign	Het
Gm15130	A	T	2: 111,135,369		probably benign	Het
Gm6185	A	T	1: 161,213,158		noncoding transcript	Het
Gpr171	T	A	3: 59,098,096	H86L	probably damaging	Het
Gpr179	T	C	11: 97,339,248	T694A	probably damaging	Het
H2-Aa	A	T	17: 34,283,820	V124E	probably damaging	Het
H2-M5	A	G	17: 36,989,417		probably benign	Het
Hist1h2bl	A	G	13: 21,715,965	M60T	probably benign	Het
Igf2r	A	T	17: 12,684,097	N2355K	probably damaging	Het
Il9r	A	C	11: 32,192,654	S295A	possibly damaging	Het
Ipo9	T	C	1: 135,406,550	T313A	probably benign	Het
Kalrn	C	T	16: 34,514,019		probably benign	Het
Lama3	G	A	18: 12,477,604	V1175M	possibly damaging	Het
Lhpp	T	A	7: 132,670,375	C242*	probably null	Het
Lipe	A	G	7: 25,380,143	S1013P	probably damaging	Het
Lrrc25	C	T	8: 70,618,076	T169I	probably benign	Het
Lrrc39	T	C	3: 116,568,866		probably null	Het
Lrrd1	T	A	5: 3,851,126	L477*	probably null	Het
Lrriq4	A	G	3: 30,660,047	I515V	possibly damaging	Het
Magel2	A	G	7: 62,381,092	Y1248C	unknown	Het
Maml1	G	T	11: 50,258,335	N859K	possibly damaging	Het
Mdm1	A	T	10: 118,146,877	H139L	possibly damaging	Het
Mef2d	C	T	3: 88,168,090	P420S	possibly damaging	Het
Mgat4b	A	G	11: 50,211,021	K38E	probably benign	Het
Mtmr4	T	C	11: 87,604,097	V405A	probably damaging	Het
Naip5	G	A	13: 100,219,681	S1142F	probably benign	Het
Naip5	G	A	13: 100,219,687	T1140M	probably benign	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Nfe2l3	T	C	6: 51,456,624	S239P	probably damaging	Het
Nlrp3	A	G	11: 59,548,301	I235V	probably benign	Het
Nyap2	T	A	1: 81,241,313	L318Q	probably damaging	Het
Nynrin	G	A	14: 55,872,001	V1522M	probably damaging	Het
Olfr1016	A	T	2: 85,800,047	N74K	probably benign	Het
Olfr1461	A	G	19: 13,165,124	I37V	probably benign	Het
Olfr659	C	T	7: 104,670,735	P11L	probably benign	Het
Olfr810	T	C	10: 129,791,439	D50G	probably damaging	Het
Olfr875	T	A	9: 37,773,430	M257K	possibly damaging	Het
Oog3	A	G	4: 144,159,161	L289P	probably damaging	Het
Pax6	T	C	2: 105,683,784		probably benign	Het
Pbrm1	G	A	14: 31,110,448	R1441K	probably benign	Het
Pcdha9	C	T	18: 36,999,458	R527W	probably damaging	Het
Pcdhb17	T	C	18: 37,487,397	S747P	probably benign	Het
Pcnx3	A	C	19: 5,687,995		probably null	Het
Pds5a	A	T	5: 65,651,289	V413E	probably damaging	Het
Phpt1	G	T	2: 25,574,320		probably benign	Het
Phykpl	A	G	11: 51,592,953	E220G	probably benign	Het
Pias2	T	C	18: 77,105,891		probably null	Het
Pkhd1	T	A	1: 20,199,415	I3302L	probably damaging	Het
Poli	A	G	18: 70,522,751	L241P	probably damaging	Het
Ppm1h	T	A	10: 122,679,379	I65N	possibly damaging	Het
Ptpn14	T	C	1: 189,856,800	L954P	probably damaging	Het
Pxk	T	G	14: 8,136,893	M138R	probably damaging	Het
Rasl11b	G	T	5: 74,198,397	D188Y	probably damaging	Het
Rtraf	A	G	14: 19,822,576	F59S	probably benign	Het
Serpinb5	G	T	1: 106,872,339	L86F	probably damaging	Het
Setdb2	G	A	14: 59,413,646	T412I	probably benign	Het
Shank2	C	A	7: 144,052,306	N75K	probably damaging	Het
Shank3	T	A	15: 89,543,115	I791N	probably damaging	Het
Slc25a13	T	A	6: 6,114,274	M213L	possibly damaging	Het
Slc25a21	T	C	12: 56,713,838	Y298C	probably damaging	Het
Slc34a2	A	G	5: 53,069,020	N495S	probably damaging	Het
Smc2	A	G	4: 52,451,231	T292A	probably benign	Het
Spag9	T	C	11: 94,048,599		probably benign	Het
Tas2r113	C	T	6: 132,893,782	P258S	probably benign	Het
Tbkbp1	T	C	11: 97,138,741	S530G	probably benign	Het
Tenm2	A	G	11: 36,027,290	V1881A	probably damaging	Het
Tm9sf1	C	T	14: 55,641,149	R262Q	possibly damaging	Het
Tmcc3	G	T	10: 94,578,784	G147V	possibly damaging	Het
Trim38	A	T	13: 23,788,281	E195V	probably damaging	Het
Try5	T	C	6: 41,313,415	Y45C	probably benign	Het
Umad1	A	C	6: 8,457,462		probably benign	Het
Vmn2r105	T	C	17: 20,208,691	I708V	probably benign	Het
Zc3h12d	A	T	10: 7,867,947	S494C	probably damaging	Het
Zeb2	A	G	2: 44,997,768	S382P	probably damaging	Het
Zfc3h1	A	G	10: 115,415,694	S1304G	probably benign	Het
Zfp287	G	T	11: 62,714,248	T611K	probably damaging	Het
Zfp534	G	A	4: 147,674,286	T642I	possibly damaging	Het

Other mutations in C1qbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1694:C1qbp	UTSW	11	70978247	splice site	probably null
R2100:C1qbp	UTSW	11	70978102	missense	probably benign	0.27
R4529:C1qbp	UTSW	11	70978724	missense	probably benign
R4790:C1qbp	UTSW	11	70980030	nonsense	probably null
R5702:C1qbp	UTSW	11	70978744	missense	probably benign	0.00
R5886:C1qbp	UTSW	11	70982182	missense	probably benign	0.00
R7425:C1qbp	UTSW	11	70978246	critical splice acceptor site	probably null
R7425:C1qbp	UTSW	11	70978247	splice site	probably null
R7604:C1qbp	UTSW	11	70978772	missense	probably damaging	1.00
R8420:C1qbp	UTSW	11	70978717	missense	possibly damaging	0.92
R8711:C1qbp	UTSW	11	70978487	missense	probably benign	0.01
R9317:C1qbp	UTSW	11	70978103	missense	probably benign	0.13
R9683:C1qbp	UTSW	11	70982923	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAATAATTTAGCCTCCGTGCCG -3'
(R):5'- GGCTTAGCAAAGTCCGTAGG -3'

Sequencing Primer
(F):5'- GTGCCGTTCACCTCCAG -3'
(R):5'- TATGTCTTTTGGAACCAGAAAGAGG -3'

Posted On

2016-02-04