Mutagenetix > Incidental Mutations

Incidental Mutation 'R1630:C1qtnf7'

172725

Institutional Source

Beutler Lab

Gene Symbol

C1qtnf7

Ensembl Gene

ENSMUSG00000061535

Gene Name

C1q and tumor necrosis factor related protein 7

Synonyms

5530401N20Rik, CTRP7, 8430425G24Rik

MMRRC Submission

039667-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1630 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43515538-43618803 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43609161 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 34 (C34Y)

Ref Sequence

ENSEMBL: ENSMUSP00000120917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076939] [ENSMUST00000121872] [ENSMUST00000144558]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076939
AA Change: C41Y

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000076206
Gene: ENSMUSG00000061535
AA Change: C41Y

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Collagen	36	93	2.9e-11	PFAM
Pfam:Collagen	82	139	7.4e-11	PFAM
C1Q	141	276	1.05e-45	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121872
AA Change: C34Y

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113520
Gene: ENSMUSG00000061535
AA Change: C34Y

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Collagen	36	93	2.9e-11	PFAM
Pfam:Collagen	82	139	7.4e-11	PFAM
C1Q	141	276	1.05e-45	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144558
AA Change: C34Y

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120917
Gene: ENSMUSG00000061535
AA Change: C34Y

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Collagen	35	68	5.5e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167522
AA Change: C41Y

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126974
Gene: ENSMUSG00000061535
AA Change: C41Y

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Collagen	43	100	1.1e-10	PFAM
Pfam:Collagen	89	146	2.8e-10	PFAM
C1Q	148	283	1.05e-45	SMART

Meta Mutation Damage Score

0.3876

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.1%

Validation Efficiency

100% (67/67)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased weight, liver fibrosis, male-specific glucose serum levels and adipose inflammation with male-specific improved glucose tolerance when fed a high-fat diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429P17Rik	C	A	13: 47,960,725		noncoding transcript	Het
9930012K11Rik	T	C	14: 70,157,180	E175G	probably benign	Het
A630091E08Rik	A	G	7: 98,543,607		noncoding transcript	Het
Atm	A	T	9: 53,479,673	L1867Q	probably damaging	Het
Atp5a1	A	G	18: 77,777,567	D63G	possibly damaging	Het
Baz2b	A	T	2: 60,006,130	S20T	unknown	Het
Cactin	A	G	10: 81,323,725	T353A	probably benign	Het
Cdyl	A	G	13: 35,683,803	K21E	possibly damaging	Het
Crispld1	A	G	1: 17,728,798	T48A	probably benign	Het
Csmd3	T	A	15: 47,838,522	T1722S	possibly damaging	Het
Dapk1	A	T	13: 60,729,531	E528V	probably damaging	Het
Dennd4a	A	G	9: 64,871,882	D549G	probably benign	Het
Dnajc5b	C	A	3: 19,574,741	N66K	probably damaging	Het
Dusp16	G	T	6: 134,720,561	R250S	probably damaging	Het
F10	A	G	8: 13,055,551	N384S	probably benign	Het
Gabrr2	A	G	4: 33,085,647	S331G	probably damaging	Het
Gm12185	A	C	11: 48,907,890	I592S	probably benign	Het
Gm9755	T	C	8: 67,514,660		noncoding transcript	Het
Hspg2	T	C	4: 137,518,435	L913P	probably damaging	Het
Ifna1	T	A	4: 88,850,329	S81R	probably benign	Het
Iqgap2	T	C	13: 95,689,785	K510E	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lhx6	A	G	2: 36,102,901	Y140H	probably damaging	Het
Lix1	A	G	17: 17,457,158	H205R	probably damaging	Het
Masp2	A	T	4: 148,614,033	T524S	probably benign	Het
Mndal	A	C	1: 173,874,392	F115V	possibly damaging	Het
Morc3	C	A	16: 93,866,533	N541K	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myocd	A	G	11: 65,196,394	S236P	probably damaging	Het
Nes	T	A	3: 87,977,677	V1037E	probably benign	Het
Nfkbil1	A	G	17: 35,221,164	W178R	probably damaging	Het
Nobox	A	T	6: 43,307,212	C8*	probably null	Het
Nwd1	A	G	8: 72,667,029	T348A	possibly damaging	Het
Olfr1048	A	G	2: 86,236,086	S243P	probably damaging	Het
Olfr1350	T	C	7: 6,570,674	S228P	probably damaging	Het
Olfr382	T	C	11: 73,516,720	T160A	probably damaging	Het
Osbp2	T	C	11: 3,717,167	T448A	probably benign	Het
Plrg1	A	G	3: 83,058,763	D75G	probably benign	Het
Ppp1r8	T	C	4: 132,829,437	E213G	probably benign	Het
Rad54l2	A	G	9: 106,703,629	F898L	possibly damaging	Het
Rapgef6	TG	TGG	11: 54,546,397		probably null	Het
Rasl10a	G	C	11: 5,059,542	R110P	probably damaging	Het
Rttn	T	C	18: 89,042,954	I1082T	probably benign	Het
Sema6d	A	G	2: 124,664,345	D734G	possibly damaging	Het
Sgce	C	T	6: 4,719,476	V44M	probably damaging	Het
Sgo2b	A	G	8: 63,927,797	V667A	possibly damaging	Het
Shcbp1	A	T	8: 4,748,763	C118*	probably null	Het
Slain2	C	T	5: 72,976,004	P563S	probably damaging	Het
Slco1b2	A	T	6: 141,656,821	I167F	probably damaging	Het
Speg	T	C	1: 75,422,977	L2356P	probably damaging	Het
Sptbn4	A	G	7: 27,418,739	V305A	probably benign	Het
Sspo	G	A	6: 48,457,724	R1050H	probably benign	Het
Tmem106b	A	G	6: 13,081,541	N149S	probably benign	Het
Tmem200a	T	C	10: 25,992,914	T486A	probably damaging	Het
Tmem212	T	A	3: 27,885,101	T79S	possibly damaging	Het
Ttll11	A	G	2: 35,889,325	V471A	probably damaging	Het
Vill	A	G	9: 119,070,701	N318D	probably benign	Het
Vmn2r102	A	G	17: 19,678,770	D458G	possibly damaging	Het
Zfp472	T	A	17: 32,977,978	C342*	probably null	Het
Zfp963	A	T	8: 69,744,187		probably benign	Het

Other mutations in C1qtnf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:C1qtnf7	APN	5	43609260	missense	possibly damaging	0.92
IGL01411:C1qtnf7	APN	5	43609061	start codon destroyed	probably benign	0.01
R1464:C1qtnf7	UTSW	5	43609139	missense	probably benign	0.18
R1464:C1qtnf7	UTSW	5	43609139	missense	probably benign	0.18
R2883:C1qtnf7	UTSW	5	43615880	missense	probably damaging	1.00
R4441:C1qtnf7	UTSW	5	43609270	missense	possibly damaging	0.85
R4569:C1qtnf7	UTSW	5	43609207	missense	possibly damaging	0.85
R5101:C1qtnf7	UTSW	5	43615972	nonsense	probably null
R5180:C1qtnf7	UTSW	5	43615814	missense	probably benign	0.19
R5596:C1qtnf7	UTSW	5	43515970	start gained	probably benign
R5886:C1qtnf7	UTSW	5	43615656	missense	probably damaging	1.00
R5997:C1qtnf7	UTSW	5	43616085	missense	probably damaging	1.00
R6830:C1qtnf7	UTSW	5	43609094	missense	possibly damaging	0.53
R6971:C1qtnf7	UTSW	5	43609050	splice site	probably null
R7615:C1qtnf7	UTSW	5	43616144	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCATGCCAAAGCCCTTCCCTG -3'
(R):5'- TCATGCACAGCACCTGTCCATC -3'

Sequencing Primer
(F):5'- CTGGAGAGTCCACTGATGTCTTTAC -3'
(R):5'- TTTGAAGGAGCAGTTCCCAC -3'

Posted On

2014-04-24