Mutagenetix > Incidental Mutation

Incidental Mutation 'R5702:C1qbp'

451756

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

043182-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5702 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70868672-70873852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70869570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 171 (T171I)

Ref Sequence

ENSEMBL: ENSMUSP00000077612 (fasta)

Gene Model

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

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: T171I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000077612
Gene: ENSMUSG00000018446
AA Change: T171I

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: ENSMUST00000129540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179291

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: 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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,787,752 (GRCm39)	S1018N	probably benign	Het
Adat1	G	T	8: 112,704,704 (GRCm39)	T414K	probably benign	Het
Ahnak	G	T	19: 8,979,204 (GRCm39)	V163L	probably damaging	Het
Atf6b	T	C	17: 34,869,978 (GRCm39)	I288T	possibly damaging	Het
Blm	A	T	7: 80,108,675 (GRCm39)	V1323E	probably benign	Het
Brap	T	A	5: 121,803,206 (GRCm39)	L118Q	probably damaging	Het
Ccdc136	C	A	6: 29,412,981 (GRCm39)	H455Q	probably damaging	Het
Chd3	A	T	11: 69,252,261 (GRCm39)	V47D	possibly damaging	Het
Cnot10	A	C	9: 114,458,078 (GRCm39)	F143V	probably damaging	Het
Cnot8	T	C	11: 58,004,873 (GRCm39)	S191P	possibly damaging	Het
Coro2b	G	A	9: 62,333,859 (GRCm39)	T345I	probably damaging	Het
Dennd1b	T	C	1: 139,061,413 (GRCm39)	I365T	probably damaging	Het
Dnah11	C	A	12: 118,077,642 (GRCm39)	A1284S	probably benign	Het
Dock4	G	A	12: 40,787,490 (GRCm39)	D802N	probably benign	Het
Dsg1a	T	C	18: 20,469,922 (GRCm39)		probably null	Het
Elp3	C	T	14: 65,815,431 (GRCm39)	R187Q	probably damaging	Het
Ercc3	G	A	18: 32,387,206 (GRCm39)	R473Q	probably damaging	Het
F5	G	A	1: 164,022,116 (GRCm39)	W1530*	probably null	Het
Fmnl1	T	C	11: 103,076,491 (GRCm39)	I219T	probably damaging	Het
Gemin4	G	A	11: 76,101,663 (GRCm39)	R1033C	probably benign	Het
Gm2381	T	A	7: 42,471,820 (GRCm39)	I20F	probably benign	Het
Hmgcll1	A	G	9: 75,991,672 (GRCm39)	M129V	possibly damaging	Het
Ltbp3	G	T	19: 5,797,849 (GRCm39)	R496L	probably benign	Het
Mettl13	A	G	1: 162,373,549 (GRCm39)	V234A	probably benign	Het
Minar1	G	A	9: 89,473,208 (GRCm39)	A901V	probably benign	Het
Or1j4	A	G	2: 36,740,946 (GRCm39)	D296G	probably damaging	Het
Pde7a	A	T	3: 19,295,371 (GRCm39)	C146*	probably null	Het
Pla2g4e	T	A	2: 120,018,992 (GRCm39)	N202Y	possibly damaging	Het
Plk5	G	A	10: 80,196,401 (GRCm39)		probably null	Het
Plscr1l1	G	A	9: 92,225,741 (GRCm39)		probably null	Het
Ptpn7	A	G	1: 135,061,582 (GRCm39)	T15A	probably benign	Het
Rrn3	T	A	16: 13,631,130 (GRCm39)	Y655*	probably null	Het
Scarb2	C	T	5: 92,599,255 (GRCm39)	G355D	probably damaging	Het
Scd2	G	A	19: 44,286,502 (GRCm39)	A111T	possibly damaging	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm39)		probably benign	Het
Smurf1	T	C	5: 144,838,021 (GRCm39)	T57A	possibly damaging	Het
Spire2	C	T	8: 124,073,402 (GRCm39)	P94S	probably benign	Het
Tex2	T	C	11: 106,435,221 (GRCm39)	H237R	possibly damaging	Het
Vmn2r109	T	C	17: 20,774,407 (GRCm39)	D316G	probably benign	Het
Zfp830	T	A	11: 82,655,800 (GRCm39)	F201L	possibly damaging	Het
Zic1	A	G	9: 91,246,133 (GRCm39)	F313S	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
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'- AGTGCAAAGAGGCTCTGTAG -3'
(R):5'- CGGCAGATATCATTCTGGACC -3'

Sequencing Primer
(F):5'- GCAAAGAGGCTCTGTAGTTCTAACC -3'
(R):5'- GCAGATATCATTCTGGACCCATGTG -3'

Posted On

2017-01-03