Incidental Mutation 'R0455:C1qtnf9'
ID 39977
Institutional Source Beutler Lab
Gene Symbol C1qtnf9
Ensembl Gene ENSMUSG00000071347
Gene Name C1q and tumor necrosis factor related protein 9
Synonyms 9130217G22Rik, CTRP9
MMRRC Submission 038655-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R0455 (G1)
Quality Score 217
Status Validated
Chromosome 14
Chromosomal Location 61005583-61018318 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 61009820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 25 (Q25H)
Ref Sequence ENSEMBL: ENSMUSP00000025940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025940]
AlphaFold Q4ZJN1
Predicted Effect probably damaging
Transcript: ENSMUST00000025940
AA Change: Q25H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025940
Gene: ENSMUSG00000071347
AA Change: Q25H

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Collagen 23 84 5.2e-11 PFAM
Pfam:Collagen 78 147 4.4e-10 PFAM
C1Q 195 332 1.29e-54 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155855
Meta Mutation Damage Score 0.4116 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.8%
Validation Efficiency 100% (56/56)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased caloric intake, increased percent body fat/body weight, obesity, insulin resistance, and hepatic steatosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,088,180 (GRCm39) G342D possibly damaging Het
Acvr2b C T 9: 119,261,675 (GRCm39) R399W probably damaging Het
Arb2a T A 13: 77,982,832 (GRCm39) probably benign Het
Atf6 A G 1: 170,662,492 (GRCm39) V256A probably benign Het
Atp2b4 A T 1: 133,656,454 (GRCm39) I732N probably damaging Het
Ccdc6 T A 10: 69,978,401 (GRCm39) probably benign Het
Cds2 T C 2: 132,127,887 (GRCm39) probably null Het
Chdh A G 14: 29,756,603 (GRCm39) Y343C probably damaging Het
Col5a2 T C 1: 45,421,262 (GRCm39) probably benign Het
Cts3 G A 13: 61,716,024 (GRCm39) probably benign Het
Cyfip1 T A 7: 55,541,802 (GRCm39) D362E probably benign Het
Dsg1b T A 18: 20,529,082 (GRCm39) S273T probably benign Het
Dysf A T 6: 84,117,649 (GRCm39) H1274L probably benign Het
Eva1c T C 16: 90,672,986 (GRCm39) S187P probably benign Het
Fam13b G A 18: 34,578,581 (GRCm39) probably benign Het
Fbn2 C T 18: 58,168,408 (GRCm39) G2310S probably damaging Het
Fcna T C 2: 25,515,520 (GRCm39) Y183C probably damaging Het
Fnta T C 8: 26,491,056 (GRCm39) T263A probably benign Het
Gm94 T C 18: 43,914,309 (GRCm39) D83G possibly damaging Het
Gnal C T 18: 67,268,720 (GRCm39) probably benign Het
Grb7 T G 11: 98,343,014 (GRCm39) S244A probably benign Het
Grm3 T C 5: 9,562,477 (GRCm39) T458A probably benign Het
Hdac2 C T 10: 36,867,832 (GRCm39) R193C probably damaging Het
Hycc2 T C 1: 58,573,638 (GRCm39) probably benign Het
Ighmbp2 T C 19: 3,315,072 (GRCm39) R783G probably benign Het
Inpp5j G T 11: 3,453,122 (GRCm39) L43I possibly damaging Het
Itga11 A T 9: 62,604,243 (GRCm39) T44S probably damaging Het
Itsn1 C T 16: 91,665,036 (GRCm39) probably benign Het
Kdm6b G T 11: 69,297,822 (GRCm39) C233* probably null Het
Lamb3 T C 1: 193,025,700 (GRCm39) L1130P probably damaging Het
Lrch3 T C 16: 32,807,250 (GRCm39) F508L probably damaging Het
Lrrd1 T A 5: 3,916,425 (GRCm39) V814E probably benign Het
Megf10 C T 18: 57,386,054 (GRCm39) P356S probably benign Het
Myorg G A 4: 41,499,538 (GRCm39) R31* probably null Het
Naip1 A T 13: 100,559,727 (GRCm39) D1092E probably benign Het
Nus1 T A 10: 52,306,190 (GRCm39) V42E probably damaging Het
Or11g24 A G 14: 50,662,359 (GRCm39) I128V possibly damaging Het
Or2a51 A C 6: 43,179,006 (GRCm39) M143L probably benign Het
Padi3 T C 4: 140,523,024 (GRCm39) N306S probably damaging Het
Pex13 T C 11: 23,605,949 (GRCm39) S94G probably benign Het
Ppm1h G T 10: 122,638,229 (GRCm39) Q166H probably benign Het
Ptafr A T 4: 132,307,396 (GRCm39) Y262F probably benign Het
Rabgap1 T A 2: 37,377,132 (GRCm39) D321E probably damaging Het
Samsn1 C T 16: 75,742,113 (GRCm39) noncoding transcript Het
Scarb1 T C 5: 125,366,745 (GRCm39) N63D probably damaging Het
Serpinb7 T C 1: 107,379,340 (GRCm39) I249T possibly damaging Het
Srpra A G 9: 35,126,277 (GRCm39) K490R probably benign Het
Sycn A G 7: 28,240,398 (GRCm39) N22D probably benign Het
Tarbp1 C T 8: 127,167,612 (GRCm39) A1067T probably benign Het
Tex14 A G 11: 87,405,131 (GRCm39) D681G possibly damaging Het
Usp34 C T 11: 23,396,741 (GRCm39) probably benign Het
Vmn2r107 T C 17: 20,595,085 (GRCm39) probably benign Het
Vwde A T 6: 13,187,528 (GRCm39) M653K probably benign Het
Wrap73 T A 4: 154,233,200 (GRCm39) S125T possibly damaging Het
Other mutations in C1qtnf9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:C1qtnf9 APN 14 61,017,442 (GRCm39) missense probably damaging 1.00
IGL01088:C1qtnf9 APN 14 61,017,205 (GRCm39) missense probably benign 0.01
IGL02738:C1qtnf9 APN 14 61,017,388 (GRCm39) missense probably benign 0.36
R5516:C1qtnf9 UTSW 14 61,017,198 (GRCm39) missense probably damaging 1.00
R5834:C1qtnf9 UTSW 14 61,016,899 (GRCm39) missense probably damaging 1.00
R5918:C1qtnf9 UTSW 14 61,009,737 (GRCm39) start gained probably benign
R6241:C1qtnf9 UTSW 14 61,017,069 (GRCm39) missense possibly damaging 0.92
R6748:C1qtnf9 UTSW 14 61,017,276 (GRCm39) missense probably damaging 1.00
R7040:C1qtnf9 UTSW 14 61,017,241 (GRCm39) missense probably damaging 1.00
R7070:C1qtnf9 UTSW 14 61,017,232 (GRCm39) missense probably damaging 1.00
R7109:C1qtnf9 UTSW 14 61,017,019 (GRCm39) missense probably benign 0.29
R7659:C1qtnf9 UTSW 14 61,009,753 (GRCm39) missense possibly damaging 0.65
R8691:C1qtnf9 UTSW 14 61,017,141 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTCATGCCCAGCAACTGTACC -3'
(R):5'- GCCATCAGATTGCTCCACTGATCTC -3'

Sequencing Primer
(F):5'- CTGCACCCAGGGGCTATAC -3'
(R):5'- CTGCCTGTTTTGTAGGAACAC -3'
Posted On 2013-05-23