Mutagenetix > Incidental Mutation

Incidental Mutation 'R4441:C1qtnf7'

329758

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

041706-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43672881-43776145 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43766612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 70 (K70N)

Ref Sequence

ENSEMBL: ENSMUSP00000113520 (fasta)

Gene Model

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

AlphaFold

Q8BVD7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076939
AA Change: K77N

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000076206
Gene: ENSMUSG00000061535
AA Change: K77N

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: K70N

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113520
Gene: ENSMUSG00000061535
AA Change: K70N

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

probably benign
Transcript: ENSMUST00000144558

SMART Domains

Protein: ENSMUSP00000120917
Gene: ENSMUSG00000061535

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

Meta Mutation Damage Score

0.0903

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (53/55)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,127,024 (GRCm39)	R1238S	probably benign	Het
Ankmy1	A	T	1: 92,816,383 (GRCm39)	Y244N	possibly damaging	Het
Asxl3	C	T	18: 22,657,290 (GRCm39)	P1767S	probably damaging	Het
Cibar1	A	G	4: 12,157,733 (GRCm39)	M261T	probably damaging	Het
Fam78b	C	A	1: 166,906,491 (GRCm39)	Q217K	probably damaging	Het
Garem1	T	C	18: 21,301,807 (GRCm39)	T127A	possibly damaging	Het
Gls	A	T	1: 52,235,322 (GRCm39)		probably null	Het
Gm12790	A	C	4: 101,825,337 (GRCm39)	S26A	probably damaging	Het
Gm136	T	C	4: 34,755,911 (GRCm39)	D34G	probably benign	Het
Gmds	A	G	13: 32,124,461 (GRCm39)		probably null	Het
Hdac9	G	T	12: 34,439,375 (GRCm39)	H401N	probably damaging	Het
Hmcn1	T	C	1: 150,533,210 (GRCm39)	I3026V	probably null	Het
Igkv6-20	A	T	6: 70,313,101 (GRCm39)	M24K	probably damaging	Het
Ilf2	T	C	3: 90,394,769 (GRCm39)	L339P	probably benign	Het
Insr	T	A	8: 3,244,902 (GRCm39)	K501N	probably benign	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Mcm5	T	C	8: 75,839,172 (GRCm39)	S142P	probably benign	Het
Mcpt9	A	G	14: 56,265,009 (GRCm39)	V164A	probably damaging	Het
Ncapd3	T	A	9: 26,962,941 (GRCm39)	D415E	possibly damaging	Het
Nfia	T	C	4: 97,661,150 (GRCm39)		probably null	Het
Nipbl	G	C	15: 8,396,142 (GRCm39)	Q144E	probably damaging	Het
Or51g1	A	T	7: 102,633,516 (GRCm39)	V285E	possibly damaging	Het
Or51q1c	T	G	7: 103,653,279 (GRCm39)	F266V	probably damaging	Het
Or6z5	T	C	7: 6,477,924 (GRCm39)	S272P	probably benign	Het
Pcdhgb8	A	G	18: 37,896,114 (GRCm39)	I395V	possibly damaging	Het
Plcz1	T	A	6: 139,936,413 (GRCm39)	L605F	probably benign	Het
Prph	G	A	15: 98,955,005 (GRCm39)	S325N	probably damaging	Het
Ptpn23	A	G	9: 110,221,793 (GRCm39)	M131T	probably benign	Het
Rab3ip	T	G	10: 116,751,837 (GRCm39)	D278A	probably benign	Het
Rasgrf2	T	C	13: 92,131,797 (GRCm39)	D620G	possibly damaging	Het
Rbm5	A	G	9: 107,626,887 (GRCm39)		probably benign	Het
Rc3h2	A	G	2: 37,304,526 (GRCm39)		probably null	Het
Saxo5	C	T	8: 3,526,105 (GRCm39)	S86L	probably damaging	Het
Tbxa2r	T	C	10: 81,168,925 (GRCm39)	S205P	probably damaging	Het
Tenm4	A	G	7: 96,545,022 (GRCm39)	N2375S	probably benign	Het
Tespa1	C	T	10: 130,197,826 (GRCm39)	R283C	probably damaging	Het
Tle2	A	G	10: 81,417,516 (GRCm39)	E227G	possibly damaging	Het
Tnik	A	G	3: 28,618,246 (GRCm39)	I266V	possibly damaging	Het
Tnn	T	G	1: 159,943,650 (GRCm39)	E1054D	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm1	A	G	7: 63,851,666 (GRCm39)	D12G	probably damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Wdr7	T	A	18: 63,888,281 (GRCm39)	Y585N	probably damaging	Het
Zgrf1	T	A	3: 127,379,786 (GRCm39)	N223K	possibly damaging	Het

Other mutations in C1qtnf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:C1qtnf7	APN	5	43,766,602 (GRCm39)	missense	possibly damaging	0.92
IGL01411:C1qtnf7	APN	5	43,766,403 (GRCm39)	start codon destroyed	probably benign	0.01
R1464:C1qtnf7	UTSW	5	43,766,481 (GRCm39)	missense	probably benign	0.18
R1464:C1qtnf7	UTSW	5	43,766,481 (GRCm39)	missense	probably benign	0.18
R1630:C1qtnf7	UTSW	5	43,766,503 (GRCm39)	missense	possibly damaging	0.73
R2883:C1qtnf7	UTSW	5	43,773,222 (GRCm39)	missense	probably damaging	1.00
R4569:C1qtnf7	UTSW	5	43,766,549 (GRCm39)	missense	possibly damaging	0.85
R5101:C1qtnf7	UTSW	5	43,773,314 (GRCm39)	nonsense	probably null
R5180:C1qtnf7	UTSW	5	43,773,156 (GRCm39)	missense	probably benign	0.19
R5596:C1qtnf7	UTSW	5	43,673,313 (GRCm39)	start gained	probably benign
R5886:C1qtnf7	UTSW	5	43,772,998 (GRCm39)	missense	probably damaging	1.00
R5997:C1qtnf7	UTSW	5	43,773,427 (GRCm39)	missense	probably damaging	1.00
R6830:C1qtnf7	UTSW	5	43,766,436 (GRCm39)	missense	possibly damaging	0.53
R6971:C1qtnf7	UTSW	5	43,766,392 (GRCm39)	splice site	probably null
R7615:C1qtnf7	UTSW	5	43,773,486 (GRCm39)	missense	probably damaging	1.00
R8902:C1qtnf7	UTSW	5	43,773,204 (GRCm39)	missense	probably damaging	1.00
R8942:C1qtnf7	UTSW	5	43,773,583 (GRCm39)	missense	probably benign	0.01
R9300:C1qtnf7	UTSW	5	43,766,441 (GRCm39)	missense	possibly damaging	0.91
R9777:C1qtnf7	UTSW	5	43,673,313 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCATCTGTGCAAGTGGAC -3'
(R):5'- TCACCATTGTGGCCAACTAAGG -3'

Sequencing Primer
(F):5'- TCTGTGCAAGTGGACAACCTC -3'
(R):5'- AGTTTGAAGCACAGTCATGGTC -3'

Posted On

2015-07-21