Incidental Mutation 'R1630:C1qtnf7'
ID 172725
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 039667-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1630 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 43672881-43776145 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43766503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 34 (C34Y)
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: C41Y

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000076206
Gene: ENSMUSG00000061535
AA Change: C41Y

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 possibly damaging
Transcript: ENSMUST00000121872
AA Change: C34Y

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113520
Gene: ENSMUSG00000061535
AA Change: C34Y

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 possibly damaging
Transcript: ENSMUST00000144558
AA Change: C34Y

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120917
Gene: ENSMUSG00000061535
AA Change: C34Y

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Collagen 35 68 5.5e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000167522
AA Change: C41Y

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126974
Gene: ENSMUSG00000061535
AA Change: C41Y

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
Meta Mutation Damage Score 0.3876 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.1%
Validation Efficiency 100% (67/67)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429P17Rik C A 13: 48,114,201 (GRCm39) noncoding transcript Het
9930012K11Rik T C 14: 70,394,629 (GRCm39) E175G probably benign Het
A630091E08Rik A G 7: 98,192,814 (GRCm39) noncoding transcript Het
Atm A T 9: 53,390,973 (GRCm39) L1867Q probably damaging Het
Atp5f1a A G 18: 77,865,267 (GRCm39) D63G possibly damaging Het
Baz2b A T 2: 59,836,474 (GRCm39) S20T unknown Het
Cactin A G 10: 81,159,559 (GRCm39) T353A probably benign Het
Cdyl A G 13: 35,867,786 (GRCm39) K21E possibly damaging Het
Crispld1 A G 1: 17,799,022 (GRCm39) T48A probably benign Het
Csmd3 T A 15: 47,701,918 (GRCm39) T1722S possibly damaging Het
Dapk1 A T 13: 60,877,345 (GRCm39) E528V probably damaging Het
Dennd4a A G 9: 64,779,164 (GRCm39) D549G probably benign Het
Dnajc5b C A 3: 19,628,905 (GRCm39) N66K probably damaging Het
Dusp16 G T 6: 134,697,524 (GRCm39) R250S probably damaging Het
F10 A G 8: 13,105,551 (GRCm39) N384S probably benign Het
Gabrr2 A G 4: 33,085,647 (GRCm39) S331G probably damaging Het
Gm12185 A C 11: 48,798,717 (GRCm39) I592S probably benign Het
Gm9755 T C 8: 67,967,312 (GRCm39) noncoding transcript Het
Hspg2 T C 4: 137,245,746 (GRCm39) L913P probably damaging Het
Ifna1 T A 4: 88,768,566 (GRCm39) S81R probably benign Het
Iqgap2 T C 13: 95,826,293 (GRCm39) K510E probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lhx6 A G 2: 35,992,913 (GRCm39) Y140H probably damaging Het
Lix1 A G 17: 17,677,420 (GRCm39) H205R probably damaging Het
Masp2 A T 4: 148,698,490 (GRCm39) T524S probably benign Het
Mndal A C 1: 173,701,958 (GRCm39) F115V possibly damaging Het
Morc3 C A 16: 93,663,421 (GRCm39) N541K probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myocd A G 11: 65,087,220 (GRCm39) S236P probably benign Het
Nes T A 3: 87,884,984 (GRCm39) V1037E probably benign Het
Nfkbil1 A G 17: 35,440,140 (GRCm39) W178R probably damaging Het
Nobox A T 6: 43,284,146 (GRCm39) C8* probably null Het
Nwd1 A G 8: 73,393,657 (GRCm39) T348A possibly damaging Het
Or1e23 T C 11: 73,407,546 (GRCm39) T160A probably damaging Het
Or5bw2 T C 7: 6,573,673 (GRCm39) S228P probably damaging Het
Or8k17 A G 2: 86,066,430 (GRCm39) S243P probably damaging Het
Osbp2 T C 11: 3,667,167 (GRCm39) T448A probably benign Het
Plrg1 A G 3: 82,966,070 (GRCm39) D75G probably benign Het
Ppp1r8 T C 4: 132,556,748 (GRCm39) E213G probably benign Het
Rad54l2 A G 9: 106,580,828 (GRCm39) F898L possibly damaging Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rasl10a G C 11: 5,009,542 (GRCm39) R110P probably damaging Het
Rttn T C 18: 89,061,078 (GRCm39) I1082T probably benign Het
Sema6d A G 2: 124,506,265 (GRCm39) D734G possibly damaging Het
Sgce C T 6: 4,719,476 (GRCm39) V44M probably damaging Het
Sgo2b A G 8: 64,380,831 (GRCm39) V667A possibly damaging Het
Shcbp1 A T 8: 4,798,763 (GRCm39) C118* probably null Het
Slain2 C T 5: 73,133,347 (GRCm39) P563S probably damaging Het
Slco1b2 A T 6: 141,602,547 (GRCm39) I167F probably damaging Het
Speg T C 1: 75,399,621 (GRCm39) L2356P probably damaging Het
Sptbn4 A G 7: 27,118,164 (GRCm39) V305A probably benign Het
Sspo G A 6: 48,434,658 (GRCm39) R1050H probably benign Het
Tmem106b A G 6: 13,081,540 (GRCm39) N149S probably benign Het
Tmem200a T C 10: 25,868,812 (GRCm39) T486A probably damaging Het
Tmem212 T A 3: 27,939,250 (GRCm39) T79S possibly damaging Het
Ttll11 A G 2: 35,779,337 (GRCm39) V471A probably damaging Het
Vill A G 9: 118,899,769 (GRCm39) N318D probably benign Het
Vmn2r102 A G 17: 19,899,032 (GRCm39) D458G possibly damaging Het
Zfp472 T A 17: 33,196,952 (GRCm39) C342* probably null Het
Zfp963 A T 8: 70,196,837 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ATCATGCCAAAGCCCTTCCCTG -3'
(R):5'- TCATGCACAGCACCTGTCCATC -3'

Sequencing Primer
(F):5'- CTGGAGAGTCCACTGATGTCTTTAC -3'
(R):5'- TTTGAAGGAGCAGTTCCCAC -3'
Posted On 2014-04-24