Mutagenetix > Incidental Mutation

Incidental Mutation 'R5443:C1qc'

427265

Institutional Source

Beutler Lab

Gene Symbol

C1qc

Ensembl Gene

ENSMUSG00000036896

Gene Name

complement component 1, q subcomponent, C chain

Synonyms

C1qg

MMRRC Submission

043008-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5443 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136617112-136620242 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 136619804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046285] [ENSMUST00000046332]

AlphaFold

Q02105

Predicted Effect

probably benign
Transcript: ENSMUST00000046285

SMART Domains

Protein: ENSMUSP00000048836
Gene: ENSMUSG00000036887

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	34	55	N/A	INTRINSIC
low complexity region	79	99	N/A	INTRINSIC
C1Q	108	244	2.45e-69	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000046332
AA Change: P24S

SMART Domains

Protein: ENSMUSP00000036747
Gene: ENSMUSG00000036896
AA Change: P24S

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
Pfam:Collagen	27	78	8.5e-9	PFAM
low complexity region	95	110	N/A	INTRINSIC
C1Q	114	246	1.31e-69	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153104

Meta Mutation Damage Score

0.0995

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.9%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	T	10: 4,305,576 (GRCm39)	E795D	probably damaging	Het
Aldh6a1	T	C	12: 84,484,745 (GRCm39)		probably null	Het
Aox4	A	G	1: 58,273,151 (GRCm39)		probably null	Het
Arhgap39	G	A	15: 76,682,125 (GRCm39)		probably benign	Het
AW551984	T	C	9: 39,509,325 (GRCm39)	E272G	possibly damaging	Het
Carhsp1	C	A	16: 8,482,203 (GRCm39)	R26L	probably benign	Het
Cdh12	G	T	15: 21,237,935 (GRCm39)	V57L	probably benign	Het
Cfap298	G	T	16: 90,724,099 (GRCm39)	Q168K	probably benign	Het
Clec3a	A	G	8: 115,144,893 (GRCm39)	Y23C	probably benign	Het
Crebrf	G	C	17: 26,961,328 (GRCm39)	V150L	probably damaging	Het
Ddx41	G	T	13: 55,683,104 (GRCm39)	A201E	probably benign	Het
Doc2b	T	C	11: 75,670,921 (GRCm39)	K237E	probably damaging	Het
Dst	T	C	1: 34,267,620 (GRCm39)	S5199P	probably damaging	Het
Efnb2	A	G	8: 8,670,862 (GRCm39)	I129T	probably damaging	Het
Epg5	A	G	18: 78,070,712 (GRCm39)	E2329G	possibly damaging	Het
Esrrg	A	C	1: 187,775,622 (GRCm39)	T27P	possibly damaging	Het
Fah	T	A	7: 84,241,604 (GRCm39)	R316W	probably damaging	Het
Fat4	T	C	3: 39,064,519 (GRCm39)	L4825P	probably damaging	Het
Gabbr1	T	C	17: 37,381,648 (GRCm39)	V804A	probably damaging	Het
Gm1322	G	A	2: 67,015,012 (GRCm39)		noncoding transcript	Het
Gm5114	T	A	7: 39,058,289 (GRCm39)	K443N	probably benign	Het
Gnai2	T	C	9: 107,497,386 (GRCm39)	I3V	probably damaging	Het
Gp2	G	A	7: 119,053,821 (GRCm39)	P47S	possibly damaging	Het
Klf15	C	A	6: 90,444,342 (GRCm39)	Q306K	possibly damaging	Het
Ly6a2	A	T	15: 75,005,568 (GRCm39)		noncoding transcript	Het
Maco1	A	T	4: 134,560,619 (GRCm39)	C121*	probably null	Het
Necab2	A	T	8: 120,195,032 (GRCm39)	M295L	probably benign	Het
Nrg1	A	T	8: 32,339,348 (GRCm39)	Y208N	probably damaging	Het
Nup88	A	T	11: 70,849,256 (GRCm39)	Y232*	probably null	Het
Oacyl	A	G	18: 65,883,253 (GRCm39)	R611G	probably benign	Het
Oasl1	T	C	5: 115,074,129 (GRCm39)		probably null	Het
Or2n1e	T	A	17: 38,585,905 (GRCm39)	M81K	probably damaging	Het
Or2y14	G	T	11: 49,405,262 (GRCm39)	G266C	probably damaging	Het
Or52h7	T	C	7: 104,213,583 (GRCm39)	Y52H	probably benign	Het
Or8k25	A	C	2: 86,243,937 (GRCm39)	I153R	possibly damaging	Het
Pate4	A	C	9: 35,519,170 (GRCm39)	S66A	possibly damaging	Het
Pigl	T	A	11: 62,349,309 (GRCm39)	C8*	probably null	Het
Plg	G	A	17: 12,601,070 (GRCm39)	A51T	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppig	A	T	2: 69,564,635 (GRCm39)	D97V	probably damaging	Het
Ppp1r16a	A	G	15: 76,578,846 (GRCm39)	K517E	possibly damaging	Het
Prr16	A	T	18: 51,436,225 (GRCm39)	S235C	probably damaging	Het
Psmd1	G	A	1: 86,017,905 (GRCm39)	R572H	probably damaging	Het
Sbf2	T	C	7: 109,977,135 (GRCm39)		probably benign	Het
Scrt2	A	T	2: 151,924,043 (GRCm39)	Y25F	probably benign	Het
Sema6d	A	T	2: 124,498,756 (GRCm39)	H222L	probably damaging	Het
Septin2	A	G	1: 93,425,174 (GRCm39)	N110S	possibly damaging	Het
Shpk	G	A	11: 73,113,607 (GRCm39)	G340D	possibly damaging	Het
Smg5	T	A	3: 88,261,896 (GRCm39)	L723H	probably damaging	Het
Sp110	C	T	1: 85,516,841 (GRCm39)	E219K	possibly damaging	Het
Spo11	T	C	2: 172,831,152 (GRCm39)		probably benign	Het
Srarp	T	A	4: 141,163,388 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Tm9sf2	A	T	14: 122,363,607 (GRCm39)	Y109F	probably damaging	Het
Tpcn2	A	T	7: 144,809,209 (GRCm39)	M699K	possibly damaging	Het
Trim34a	T	C	7: 103,909,420 (GRCm39)	F289S	possibly damaging	Het
Trim39	T	C	17: 36,571,645 (GRCm39)	H371R	probably damaging	Het
Usp48	T	A	4: 137,348,532 (GRCm39)	I11N	possibly damaging	Het
Zbtb10	T	C	3: 9,345,108 (GRCm39)	F677L	probably benign	Het
Zer1	C	T	2: 30,001,008 (GRCm39)	G138S	probably damaging	Het
Zfp612	A	G	8: 110,816,227 (GRCm39)	K439R	possibly damaging	Het

Other mutations in C1qc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:C1qc	APN	4	136,617,445 (GRCm39)	missense	probably damaging	1.00
IGL02644:C1qc	APN	4	136,617,629 (GRCm39)	missense	possibly damaging	0.83
IGL03218:C1qc	APN	4	136,617,598 (GRCm39)	missense	probably damaging	1.00
R1266:C1qc	UTSW	4	136,617,668 (GRCm39)	missense	possibly damaging	0.46
R2570:C1qc	UTSW	4	136,617,402 (GRCm39)	missense	probably benign	0.04
R4095:C1qc	UTSW	4	136,617,637 (GRCm39)	missense	probably benign	0.25
R4855:C1qc	UTSW	4	136,617,746 (GRCm39)	missense	probably benign	0.31
R5572:C1qc	UTSW	4	136,619,773 (GRCm39)	missense	probably benign	0.36
R7750:C1qc	UTSW	4	136,617,592 (GRCm39)	missense	probably damaging	1.00
R8550:C1qc	UTSW	4	136,617,587 (GRCm39)	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- TCTGAACTCTGAGGACCTGCAG -3'
(R):5'- ATCATCCATCCAGCCATCTGTG -3'

Sequencing Primer
(F):5'- CTCTGAGGACCTGCAGAAAGAG -3'
(R):5'- GGTTGGATGTGGACTCCCC -3'

Posted On

2016-09-01