Incidental Mutation 'R2883:C1qtnf7'
ID 260910
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 040471-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2883 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 43672881-43776145 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43773222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 167 (F167I)
Ref Sequence ENSEMBL: ENSMUSP00000113520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076939] [ENSMUST00000121872]
AlphaFold Q8BVD7
Predicted Effect probably damaging
Transcript: ENSMUST00000076939
AA Change: F174I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076206
Gene: ENSMUSG00000061535
AA Change: F174I

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 damaging
Transcript: ENSMUST00000121872
AA Change: F167I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113520
Gene: ENSMUSG00000061535
AA Change: F167I

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 damaging
Transcript: ENSMUST00000167522
AA Change: F174I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126974
Gene: ENSMUSG00000061535
AA Change: F174I

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik G A 8: 122,266,644 (GRCm39) P81S probably damaging Het
Arhgef10l T C 4: 140,244,113 (GRCm39) Q790R probably benign Het
Asic2 T A 11: 80,784,839 (GRCm39) I367F possibly damaging Het
Asxl2 T C 12: 3,551,830 (GRCm39) S1191P probably benign Het
Bod1l A G 5: 41,989,602 (GRCm39) S374P probably benign Het
Cimip3 C A 17: 47,747,650 (GRCm39) V32F probably damaging Het
Col13a1 A G 10: 61,814,135 (GRCm39) L94P probably benign Het
Cped1 A T 6: 22,143,978 (GRCm39) T575S probably damaging Het
Cpt1b T C 15: 89,302,072 (GRCm39) Y702C probably benign Het
D630039A03Rik T A 4: 57,910,560 (GRCm39) N84I probably damaging Het
Dse A T 10: 34,028,503 (GRCm39) D862E probably benign Het
Etl4 A T 2: 20,810,985 (GRCm39) T1023S possibly damaging Het
Fat4 T A 3: 39,034,953 (GRCm39) N2868K probably damaging Het
Fgd5 G A 6: 91,964,090 (GRCm39) probably null Het
Fsip2 C T 2: 82,821,868 (GRCm39) T5867I possibly damaging Het
Fuca2 A G 10: 13,381,695 (GRCm39) T203A probably benign Het
Gli2 T C 1: 118,795,874 (GRCm39) I131V probably damaging Het
Gtpbp4 A G 13: 9,040,759 (GRCm39) V122A possibly damaging Het
Kif1b G A 4: 149,322,105 (GRCm39) T938I possibly damaging Het
Klhl29 T C 12: 5,134,036 (GRCm39) D767G probably damaging Het
Mageb3 A G 2: 121,784,847 (GRCm39) V285A probably benign Het
Myoc A G 1: 162,467,185 (GRCm39) E118G possibly damaging Het
Nedd1 A C 10: 92,530,860 (GRCm39) F410V probably damaging Het
Nipal1 A T 5: 72,825,073 (GRCm39) K255N probably damaging Het
Npr3 T C 15: 11,883,410 (GRCm39) K340E possibly damaging Het
Obsl1 C A 1: 75,473,155 (GRCm39) G1023C possibly damaging Het
Ogdh T C 11: 6,284,545 (GRCm39) L188P probably damaging Het
Or51ac3 T C 7: 103,214,471 (GRCm39) N5S probably benign Het
Or5v1 C T 17: 37,810,271 (GRCm39) S243F probably damaging Het
Or9q1 T A 19: 13,805,239 (GRCm39) I174F probably damaging Het
Otogl G A 10: 107,604,842 (GRCm39) T2188M probably damaging Het
Pck1 G A 2: 173,000,368 (GRCm39) V600I probably benign Het
Ranbp17 A G 11: 33,454,708 (GRCm39) C42R probably damaging Het
Rapgef4 G A 2: 71,861,469 (GRCm39) R53H probably benign Het
Rbm12 G A 2: 155,938,995 (GRCm39) H426Y probably damaging Het
Retreg2 C T 1: 75,123,356 (GRCm39) P428L probably benign Het
Rev3l G T 10: 39,701,152 (GRCm39) S1883I probably damaging Het
Rinl CGGG CGGGGG 7: 28,497,083 (GRCm39) probably null Het
Rora T C 9: 69,282,717 (GRCm39) S356P probably damaging Het
Slc31a1 T C 4: 62,307,008 (GRCm39) V188A probably damaging Het
Slc9a3 A G 13: 74,306,879 (GRCm39) K335E probably damaging Het
Spata22 C A 11: 73,235,504 (GRCm39) H274N possibly damaging Het
Srrm1 T C 4: 135,048,722 (GRCm39) probably benign Het
Stab2 A T 10: 86,803,550 (GRCm39) I333N possibly damaging Het
Supt5 A G 7: 28,028,745 (GRCm39) Y153H possibly damaging Het
Tyk2 T C 9: 21,021,883 (GRCm39) T825A probably benign Het
Usp20 G A 2: 30,908,812 (GRCm39) V798M probably benign Het
Wdr26 A T 1: 181,038,685 (GRCm39) D102E 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
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
Predicted Primers PCR Primer
(F):5'- CTTGCTGGTGAGAAAGGAGACC -3'
(R):5'- GGCATCAAAGGTCCTTATCCG -3'

Sequencing Primer
(F):5'- GACCCATAGGACCAGAGGG -3'
(R):5'- ATCAAAGGTCCTTATCCGGTACTG -3'
Posted On 2015-01-23