Mutagenetix > Incidental Mutation

Incidental Mutation 'R2100:C1qbp'

230449

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

040104-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2100 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70868672-70873852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70868928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 278 (N278I)

Ref Sequence

ENSEMBL: ENSMUSP00000077612 (fasta)

Gene Model

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

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: ENSMUST00000078528
AA Change: N278I

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000077612
Gene: ENSMUSG00000018446
AA Change: N278I

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: ENSMUST00000179291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155371

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: 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: 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: 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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,627,183 (GRCm39)	R1295W	probably damaging	Het
Abca8b	A	T	11: 109,828,608 (GRCm39)	I1430N	probably damaging	Het
Abcb1a	A	G	5: 8,763,202 (GRCm39)	T577A	probably damaging	Het
Arl5b	G	A	2: 15,078,006 (GRCm39)	M101I	probably benign	Het
Cdh1	A	T	8: 107,386,300 (GRCm39)	T408S	possibly damaging	Het
Cfap54	T	A	10: 92,837,799 (GRCm39)	I1034F	possibly damaging	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Chil4	T	C	3: 106,121,663 (GRCm39)	K62R	probably benign	Het
Crebl2	A	G	6: 134,828,166 (GRCm39)	T113A	probably benign	Het
Cyp2c69	C	A	19: 39,875,130 (GRCm39)	V8L	probably benign	Het
Dpp6	A	G	5: 27,869,742 (GRCm39)	R447G	probably damaging	Het
Efcab6	A	T	15: 83,777,168 (GRCm39)		probably null	Het
Emilin1	T	G	5: 31,075,241 (GRCm39)	V494G	probably benign	Het
Enoph1	A	G	5: 100,211,645 (GRCm39)	I181V	probably null	Het
F3	T	C	3: 121,526,082 (GRCm39)	V215A	possibly damaging	Het
Fads2b	T	C	2: 85,330,593 (GRCm39)	N238S	probably damaging	Het
Fat3	G	T	9: 16,288,726 (GRCm39)	H266N	possibly damaging	Het
Frmd4a	A	G	2: 4,610,834 (GRCm39)	T995A	probably damaging	Het
Garnl3	T	C	2: 32,936,657 (GRCm39)	T171A	probably benign	Het
Hspa4l	T	C	3: 40,727,090 (GRCm39)	V476A	possibly damaging	Het
Impg2	A	G	16: 56,051,748 (GRCm39)		probably null	Het
Kctd6	T	C	14: 8,222,239 (GRCm38)	L27P	possibly damaging	Het
Kmt2d	G	T	15: 98,744,361 (GRCm39)		probably benign	Het
Kremen1	AGGCGG	AGGCGGCGG	11: 5,151,788 (GRCm39)		probably benign	Het
Lrig2	A	G	3: 104,418,946 (GRCm39)	L21P	possibly damaging	Het
Macf1	G	A	4: 123,291,699 (GRCm39)	Q3284*	probably null	Het
Mnt	A	G	11: 74,722,177 (GRCm39)	E8G	probably damaging	Het
Nbeal1	A	G	1: 60,344,430 (GRCm39)		probably null	Het
Nid2	C	T	14: 19,828,946 (GRCm39)	Q331*	probably null	Het
Nlrx1	A	G	9: 44,173,905 (GRCm39)	L432P	probably damaging	Het
Nop2	T	A	6: 125,117,785 (GRCm39)	D445E	probably damaging	Het
Nup62	T	C	7: 44,478,921 (GRCm39)		probably benign	Het
Oas2	A	G	5: 120,883,740 (GRCm39)		probably null	Het
Or5b121	A	G	19: 13,507,798 (GRCm39)	I298V	probably benign	Het
Or5p1	A	T	7: 107,916,761 (GRCm39)	Y220F	probably benign	Het
Or5w10	T	A	2: 87,375,169 (GRCm39)	T240S	probably damaging	Het
Or8k40	A	T	2: 86,584,905 (GRCm39)	M59K	possibly damaging	Het
Or9i14	A	G	19: 13,792,600 (GRCm39)	M118T	possibly damaging	Het
P3h3	T	A	6: 124,822,005 (GRCm39)	T623S	probably damaging	Het
Pkp3	T	C	7: 140,663,205 (GRCm39)	V350A	probably damaging	Het
Plekha3	T	A	2: 76,523,007 (GRCm39)	I225N	probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rnf213	A	T	11: 119,358,128 (GRCm39)	K4292*	probably null	Het
Rtkn	T	C	6: 83,126,541 (GRCm39)		probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Snx10	T	C	6: 51,565,395 (GRCm39)	Y171H	probably damaging	Het
Stx12	A	T	4: 132,587,913 (GRCm39)	I173N	possibly damaging	Het
Thrb	T	A	14: 18,030,393 (GRCm38)	M379K	possibly damaging	Het
Tmem132e	T	A	11: 82,335,357 (GRCm39)	V813E	probably damaging	Het
Tnfsf12	T	C	11: 69,578,175 (GRCm39)	E134G	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpbgl	T	A	7: 99,275,651 (GRCm39)	I69F	possibly damaging	Het
Ythdc1	T	A	5: 86,964,544 (GRCm39)	S130T	possibly damaging	Het
Zbp1	A	G	2: 173,051,037 (GRCm39)	S278P	probably damaging	Het
Zfp30	A	G	7: 29,492,951 (GRCm39)	T483A	probably benign	Het
Zfp322a	G	A	13: 23,541,460 (GRCm39)	S94L	possibly damaging	Het
Zfp646	T	G	7: 127,481,359 (GRCm39)	Y1179D	probably damaging	Het

Other mutations in C1qbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1694:C1qbp	UTSW	11	70,869,073 (GRCm39)	splice site	probably null
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

PCR Primer
(F):5'- AAGAACCTCAACTTTCCTGGAG -3'
(R):5'- ACCTTGCCAGACCACTTTTG -3'

Sequencing Primer
(F):5'- CAACTTTCCTGGAGATTTATTGGAG -3'
(R):5'- CCACTTTTGGGTTTTGTTTTTCAAGC -3'

Posted On

2014-09-18