Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01323:C1qtnf7'

74131

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C1qtnf7

Ensembl Gene

ENSMUSG00000061535

Gene Name

C1q and tumor necrosis factor related protein 7

Synonyms

5530401N20Rik, CTRP7, 8430425G24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01323

Quality Score

Status

Chromosome

Chromosomal Location

43672881-43776145 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43766602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 67 (D67G)

Ref Sequence

ENSEMBL: ENSMUSP00000120917 (fasta)

Gene Model

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

AlphaFold

Q8BVD7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076939
AA Change: D74G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076206
Gene: ENSMUSG00000061535
AA Change: D74G

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: D67G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113520
Gene: ENSMUSG00000061535
AA Change: D67G

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: D67G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120917
Gene: ENSMUSG00000061535
AA Change: D67G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167522
AA Change: D74G

PolyPhen 2 Score 0.360 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126974
Gene: ENSMUSG00000061535
AA Change: D74G

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

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	A	G	2: 166,713,415 (GRCm39)	D1272G	probably damaging	Het
Ascl2	A	G	7: 142,522,125 (GRCm39)	S108P	probably benign	Het
B3gat1	T	C	9: 26,667,206 (GRCm39)	V146A	possibly damaging	Het
Barhl1	C	T	2: 28,805,558 (GRCm39)	S45N	probably benign	Het
Birc6	C	T	17: 74,929,920 (GRCm39)	A2370V	probably damaging	Het
Cand2	A	G	6: 115,762,086 (GRCm39)	T171A	probably benign	Het
Ccdc77	T	C	6: 120,311,757 (GRCm39)	Q247R	probably benign	Het
Cenpp	A	T	13: 49,801,118 (GRCm39)	V100D	probably damaging	Het
Cep135	A	G	5: 76,739,612 (GRCm39)	T3A	probably benign	Het
Eef2k	T	C	7: 120,484,038 (GRCm39)		probably benign	Het
Fga	T	C	3: 82,937,518 (GRCm39)	S132P	probably damaging	Het
Gpr6	T	A	10: 40,947,555 (GRCm39)	N9I	possibly damaging	Het
Gvin2	A	G	7: 105,546,009 (GRCm39)	S2348P	possibly damaging	Het
Hacd3	A	G	9: 64,905,587 (GRCm39)	F184L	probably damaging	Het
Heatr1	T	C	13: 12,413,819 (GRCm39)	I132T	possibly damaging	Het
Igfbp7	A	G	5: 77,499,884 (GRCm39)		probably benign	Het
Ighv8-6	T	C	12: 115,129,477 (GRCm39)	D93G	possibly damaging	Het
Izumo3	A	G	4: 92,034,627 (GRCm39)		probably benign	Het
Jade2	T	C	11: 51,716,165 (GRCm39)	T347A	possibly damaging	Het
Kif18a	A	G	2: 109,128,787 (GRCm39)	T419A	probably benign	Het
Krt34	A	G	11: 99,929,606 (GRCm39)	S267P	possibly damaging	Het
Krt4	T	G	15: 101,828,716 (GRCm39)	K383Q	probably damaging	Het
Lgals7	G	T	7: 28,564,989 (GRCm39)	E42D	probably benign	Het
Morc2b	A	G	17: 33,356,293 (GRCm39)	V493A	possibly damaging	Het
Mtif2	T	A	11: 29,491,447 (GRCm39)	S557R	probably damaging	Het
Nup43	T	A	10: 7,545,320 (GRCm39)	F83I	probably benign	Het
Oosp2	A	G	19: 11,624,825 (GRCm39)	L155S	probably damaging	Het
Or1o1	G	T	17: 37,717,031 (GRCm39)	M197I	probably benign	Het
Plxnd1	T	A	6: 115,943,760 (GRCm39)	T1180S	possibly damaging	Het
Prpf39	T	A	12: 65,089,498 (GRCm39)	F79I	possibly damaging	Het
Prph	G	A	15: 98,956,517 (GRCm39)	S465N	possibly damaging	Het
Purg	A	T	8: 33,876,631 (GRCm39)	I90L	probably damaging	Het
Pxdn	C	A	12: 30,037,136 (GRCm39)	Q305K	probably benign	Het
R3hdm1	G	A	1: 128,144,280 (GRCm39)	S816N	probably benign	Het
Src	G	A	2: 157,311,423 (GRCm39)	G461R	probably damaging	Het
Tmem201	G	A	4: 149,804,045 (GRCm39)		probably benign	Het
Tnfrsf22	G	A	7: 143,197,111 (GRCm39)	P76L	probably damaging	Het
Triml1	T	C	8: 43,591,600 (GRCm39)		probably null	Het
Upp1	A	G	11: 9,086,100 (GRCm39)	*312W	probably null	Het
Wdfy3	G	T	5: 102,042,930 (GRCm39)	S1940R	probably damaging	Het
Xpc	T	C	6: 91,469,335 (GRCm39)	Y804C	probably damaging	Het
Xrn2	C	T	2: 146,876,767 (GRCm39)		probably benign	Het
Zfp106	A	T	2: 120,354,945 (GRCm39)	D1275E	possibly damaging	Het

Other mutations in C1qtnf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4441:C1qtnf7	UTSW	5	43,766,612 (GRCm39)	missense	possibly damaging	0.85
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

Posted On

2013-10-07