Incidental Mutation 'R5596:C1qtnf7'
ID 437825
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 043148-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5596 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 43672881-43776145 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) A to T at 43673313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076939] [ENSMUST00000144558]
AlphaFold Q8BVD7
Predicted Effect probably benign
Transcript: ENSMUST00000076939
SMART Domains Protein: ENSMUSP00000076206
Gene: ENSMUSG00000061535

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
SMART Domains Protein: ENSMUSP00000120917
Gene: ENSMUSG00000061535

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Collagen 35 68 5.5e-7 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.9%
Validation Efficiency 100% (40/40)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 120,000,972 (GRCm39) M1503V possibly damaging Het
Abraxas1 A T 5: 100,966,403 (GRCm39) V53D probably damaging Het
Bub1b T C 2: 118,461,463 (GRCm39) S672P probably damaging Het
Cacng7 A T 7: 3,415,420 (GRCm39) I262F probably benign Het
Capzb T G 4: 139,006,738 (GRCm39) probably benign Het
Ccdc149 A G 5: 52,561,493 (GRCm39) V229A probably damaging Het
Cfap69 A G 5: 5,676,020 (GRCm39) L225P probably damaging Het
Cftr A G 6: 18,268,095 (GRCm39) T685A probably benign Het
Col12a1 G A 9: 79,611,041 (GRCm39) T177M probably damaging Het
Creb3l3 T G 10: 80,920,881 (GRCm39) D383A probably benign Het
Cyp2j8 T A 4: 96,395,578 (GRCm39) I16F probably benign Het
Dnah5 G T 15: 28,343,754 (GRCm39) A2385S probably damaging Het
Enox1 A G 14: 77,816,493 (GRCm39) I158V probably benign Het
Erich3 A T 3: 154,433,033 (GRCm39) T139S probably damaging Het
Fam186b A T 15: 99,169,170 (GRCm39) S926T possibly damaging Het
Gjd2 C A 2: 113,841,965 (GRCm39) V171F possibly damaging Het
Helz2 A T 2: 180,879,082 (GRCm39) probably benign Het
Herc1 T TTN 9: 66,341,345 (GRCm39) probably benign Het
Impg1 A T 9: 80,252,500 (GRCm39) V483E probably benign Het
Irx4 A G 13: 73,415,799 (GRCm39) N196S probably damaging Het
Kcnip1 T C 11: 33,580,597 (GRCm39) D213G probably damaging Het
Lmntd1 T A 6: 145,359,140 (GRCm39) T191S probably benign Het
Med12l T A 3: 59,159,771 (GRCm39) N1273K probably benign Het
Musk T C 4: 58,373,036 (GRCm39) C654R probably damaging Het
Nlrp4d A T 7: 10,115,951 (GRCm39) S274T noncoding transcript Het
Omd A G 13: 49,745,814 (GRCm39) H408R probably benign Het
Pbld2 C T 10: 62,907,791 (GRCm39) A219V probably damaging Het
Pramel22 T A 4: 143,381,025 (GRCm39) T333S probably damaging Het
Pramel32 C T 4: 88,548,292 (GRCm39) E38K probably damaging Het
Ptpn1 T C 2: 167,816,683 (GRCm39) I246T probably damaging Het
Sap18b G T 8: 96,551,998 (GRCm39) A3S unknown Het
Sptbn5 G A 2: 119,876,965 (GRCm39) probably benign Het
Sstr4 G T 2: 148,237,652 (GRCm39) V88F possibly damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tmcc2 T C 1: 132,288,221 (GRCm39) N489D probably damaging Het
Tnfrsf9 T C 4: 151,014,331 (GRCm39) V10A probably benign Het
Tnxb T A 17: 34,907,778 (GRCm39) V1274E probably damaging Het
Ube3b T A 5: 114,544,221 (GRCm39) probably null Het
Vwa5a A T 9: 38,633,874 (GRCm39) I26F probably damaging Het
Other mutations in C1qtnf7
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2016-10-26