Mutagenetix > Incidental Mutation

Incidental Mutation 'R8420:C1qbp'

653153

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

067773-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8420 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70868672-70873852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70869543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 180 (V180A)

Ref Sequence

ENSEMBL: ENSMUSP00000077612 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000078528
AA Change: V180A

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077612
Gene: ENSMUSG00000018446
AA Change: V180A

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

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

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,937,746 (GRCm39)	S11P	unknown	Het
Adrb2	T	C	18: 62,312,004 (GRCm39)	T274A	probably damaging	Het
Aph1b	A	G	9: 66,701,503 (GRCm39)	S45P	probably damaging	Het
Atp9b	A	T	18: 80,887,806 (GRCm39)	D321E		Het
C4b	G	T	17: 34,953,513 (GRCm39)	A990D	probably damaging	Het
Ccdc80	T	A	16: 44,915,612 (GRCm39)	S123T	possibly damaging	Het
Cdh18	A	C	15: 23,474,138 (GRCm39)	E669D	possibly damaging	Het
Ceacam3	T	A	7: 16,895,608 (GRCm39)	V526D		Het
Cenpf	C	T	1: 189,404,782 (GRCm39)	C349Y	probably damaging	Het
Dmrt2	T	C	19: 25,655,379 (GRCm39)	V326A	probably damaging	Het
Dock9	T	C	14: 121,783,454 (GRCm39)	Q2023R	probably damaging	Het
Exd2	A	G	12: 80,522,771 (GRCm39)	R77G	probably benign	Het
Exph5	A	T	9: 53,287,148 (GRCm39)	K1410*	probably null	Het
Eya2	A	G	2: 165,608,988 (GRCm39)	T443A	probably damaging	Het
Fam135a	G	A	1: 24,067,569 (GRCm39)	T1100M	probably benign	Het
Foxp2	G	T	6: 15,403,866 (GRCm39)	R381L	unknown	Het
Grm7	T	G	6: 111,057,315 (GRCm39)	V305G	probably benign	Het
Gzma	G	A	13: 113,237,464 (GRCm39)	R8W	probably benign	Het
H6pd	T	C	4: 150,066,133 (GRCm39)	E759G	probably benign	Het
Ift27	A	G	15: 78,048,391 (GRCm39)	V154A	probably benign	Het
Kif1a	A	T	1: 92,950,141 (GRCm39)	S1429T	probably benign	Het
Lrrn1	T	A	6: 107,546,294 (GRCm39)	D697E	probably benign	Het
Mcrs1	A	T	15: 99,141,575 (GRCm39)	I387N	probably damaging	Het
Muc16	T	C	9: 18,448,807 (GRCm39)	T7675A	probably damaging	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nid1	C	A	13: 13,612,416 (GRCm39)	L44I	possibly damaging	Het
Or2f2	A	T	6: 42,767,644 (GRCm39)	T224S	possibly damaging	Het
Or4m1	T	C	14: 50,558,233 (GRCm39)	T20A	probably benign	Het
Or5h27	A	G	16: 59,006,117 (GRCm39)	I243T	unknown	Het
Or8k1	T	A	2: 86,047,457 (GRCm39)	E199V	probably damaging	Het
Pde11a	C	T	2: 75,889,354 (GRCm39)	D707N	probably damaging	Het
Pigf	A	T	17: 87,327,910 (GRCm39)	L119*	probably null	Het
Pkd1l1	A	T	11: 8,820,277 (GRCm39)	C1679*	probably null	Het
Prnp	A	G	2: 131,778,669 (GRCm39)	N107S	probably benign	Het
Ptgfr	C	T	3: 151,541,053 (GRCm39)	V152M	possibly damaging	Het
Rap2b	A	G	3: 61,271,805 (GRCm39)		probably benign	Het
Rtn4	A	G	11: 29,657,300 (GRCm39)	T485A	probably damaging	Het
Sec23b	A	G	2: 144,401,234 (GRCm39)	T32A	probably benign	Het
Skint5	A	T	4: 113,437,679 (GRCm39)		probably null	Het
Slc13a5	A	G	11: 72,148,210 (GRCm39)	L275P	probably damaging	Het
Slc20a1	C	T	2: 129,041,784 (GRCm39)	A49V	probably damaging	Het
Slc35g2	A	G	9: 100,435,224 (GRCm39)	I149T	probably benign	Het
Syk	T	A	13: 52,778,763 (GRCm39)	I283K	probably benign	Het
Taf7l2	T	C	10: 115,948,440 (GRCm39)	Y362C	probably benign	Het
Tnfsf13b	G	A	8: 10,056,795 (GRCm39)		probably benign	Het
Ubr1	A	G	2: 120,701,476 (GRCm39)	V1592A	probably benign	Het
Vopp1	T	C	6: 57,739,379 (GRCm39)	*123W	probably null	Het
Xpo4	T	A	14: 57,841,913 (GRCm39)	Q467H	probably damaging	Het
Zdhhc22	A	C	12: 87,035,143 (GRCm39)	V103G	possibly damaging	Het
Zfp868	A	G	8: 70,064,160 (GRCm39)	S392P	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
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
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'- TCATCTTCGTGTCCAATCTGAG -3'
(R):5'- TTTGAGTGCCTTATCCACAGCC -3'

Sequencing Primer
(F):5'- TCGTGTCCAATCTGAGAGATACAGC -3'
(R):5'- GAGTGCCTTATCCACAGCCTAAGAC -3'

Posted On

2020-10-20