Incidental Mutation 'IGL01411:C1qtnf7'
ID80008
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C1qtnf7
Ensembl Gene ENSMUSG00000061535
Gene NameC1q and tumor necrosis factor related protein 7
Synonyms5530401N20Rik, CTRP7, 8430425G24Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01411
Quality Score
Status
Chromosome5
Chromosomal Location43515538-43618803 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to T at 43609061 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000120917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076939] [ENSMUST00000121872] [ENSMUST00000144558]
Predicted Effect probably benign
Transcript: ENSMUST00000076939
AA Change: M8L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000076206
Gene: ENSMUSG00000061535
AA Change: M8L

DomainStartEndE-ValueType
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: ENSMUST00000121872
AA Change: M1L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000113520
Gene: ENSMUSG00000061535
AA Change: M1L

DomainStartEndE-ValueType
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
AA Change: M1L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000120917
Gene: ENSMUSG00000061535
AA Change: M1L

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Collagen 35 68 5.5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167522
AA Change: M8L
SMART Domains Protein: ENSMUSP00000126974
Gene: ENSMUSG00000061535
AA Change: M8L

DomainStartEndE-ValueType
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,911,229 E36K possibly damaging Het
Alox8 A T 11: 69,188,690 S257R probably benign Het
Apc2 T C 10: 80,315,078 S1960P probably damaging Het
Arhgap35 T C 7: 16,564,267 N291S probably benign Het
AW551984 A T 9: 39,593,791 D468E possibly damaging Het
B3gnt6 A C 7: 98,194,523 F77V probably damaging Het
Calm3 T C 7: 16,917,484 T63A probably benign Het
Ccdc33 G A 9: 58,117,636 probably benign Het
Cdh4 C T 2: 179,780,403 R107C probably damaging Het
Cdr2l A G 11: 115,382,366 E15G probably damaging Het
Chil6 A G 3: 106,388,825 W365R probably damaging Het
Ckap5 G T 2: 91,601,011 R1525L probably benign Het
Col6a6 T A 9: 105,785,958 K127* probably null Het
Dclre1b A G 3: 103,803,323 V298A probably damaging Het
Fat1 T A 8: 45,026,800 V2961E probably damaging Het
Fhit T C 14: 9,573,483 D126G probably benign Het
Gpc1 T C 1: 92,857,014 F303S probably damaging Het
Hsd17b4 T A 18: 50,191,814 V698D probably damaging Het
Itpr2 C T 6: 146,376,062 probably null Het
Klhl4 A T X: 114,522,394 D168V probably damaging Het
Krt42 A G 11: 100,263,341 L405P possibly damaging Het
Lrp1 A T 10: 127,581,765 C85* probably null Het
Lrp2 A G 2: 69,482,267 L2559P probably damaging Het
Maob T G X: 16,712,569 R448S possibly damaging Het
Mast3 A G 8: 70,779,583 V1250A possibly damaging Het
Mfsd4b5 C T 10: 39,970,727 V286M probably damaging Het
Mlip A G 9: 77,239,417 I198T possibly damaging Het
Mocs3 T C 2: 168,231,377 V248A probably damaging Het
Nxf2 T A X: 134,952,112 R367S probably benign Het
Olfr1404 T G 1: 173,216,128 V159G probably benign Het
Olfr617 T C 7: 103,584,117 W32R probably damaging Het
Parva T C 7: 112,577,010 probably benign Het
Pot1a A T 6: 25,750,144 probably benign Het
Ptpra T C 2: 130,544,439 I603T probably damaging Het
Rad9a T C 19: 4,201,337 K33E probably benign Het
Rimbp3 A G 16: 17,211,094 D794G probably damaging Het
Sept5 G A 16: 18,624,930 R90C probably damaging Het
Skint8 T A 4: 111,936,906 N164K probably damaging Het
Slc30a3 T G 5: 31,090,080 I73L probably benign Het
Stab2 A T 10: 86,980,008 probably benign Het
Tnc C T 4: 64,000,722 V1155M probably damaging Het
Ttc13 T G 8: 124,683,285 Q525P probably damaging Het
Ttn T C 2: 76,720,135 E31601G probably damaging Het
Unc5a A T 13: 55,002,928 D577V probably damaging Het
Usp18 G A 6: 121,261,421 V176M probably benign Het
Vmn1r184 T C 7: 26,266,895 V22A probably benign Het
Vmn1r33 T A 6: 66,611,881 I230F probably damaging Het
Vmn1r51 A G 6: 90,129,404 I101V probably benign Het
Vmn2r108 T A 17: 20,471,020 M414L probably benign Het
Vmn2r87 A C 10: 130,472,560 V603G probably benign Het
Wt1 A G 2: 105,132,974 Y16C probably damaging Het
Wwp2 C T 8: 107,506,345 T159I probably benign Het
Xirp2 T C 2: 67,514,083 F2223L probably benign Het
Zan T A 5: 137,388,893 H4966L unknown Het
Other mutations in C1qtnf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:C1qtnf7 APN 5 43609260 missense possibly damaging 0.92
R1464:C1qtnf7 UTSW 5 43609139 missense probably benign 0.18
R1464:C1qtnf7 UTSW 5 43609139 missense probably benign 0.18
R1630:C1qtnf7 UTSW 5 43609161 missense possibly damaging 0.73
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
Posted On2013-11-05