Incidental Mutation 'R7109:C1qtnf9'
ID 551415
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 045201-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R7109 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 61005583-61018318 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 61017019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Serine at position 183 (W183S)
Ref Sequence ENSEMBL: ENSMUSP00000025940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025940]
AlphaFold Q4ZJN1
Predicted Effect probably benign
Transcript: ENSMUST00000025940
AA Change: W183S

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000025940
Gene: ENSMUSG00000071347
AA Change: W183S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T G 2: 151,315,673 (GRCm39) K2Q probably damaging Het
Abtb2 T C 2: 103,545,860 (GRCm39) Y903H probably benign Het
Adamtsl3 C T 7: 82,261,069 (GRCm39) P29S Het
Alcam T A 16: 52,097,192 (GRCm39) T355S probably damaging Het
Anapc1 A G 2: 128,516,522 (GRCm39) V404A probably benign Het
Bst2 A G 8: 71,989,926 (GRCm39) F49S possibly damaging Het
Camsap3 A G 8: 3,648,087 (GRCm39) I132V possibly damaging Het
Cchcr1 T A 17: 35,828,838 (GRCm39) probably null Het
Cenpk A G 13: 104,367,256 (GRCm39) K31E probably benign Het
Cfap221 T C 1: 119,853,301 (GRCm39) K798E possibly damaging Het
Copb2 T A 9: 98,463,333 (GRCm39) probably null Het
Dennd1a T A 2: 37,938,804 (GRCm39) Y102F probably damaging Het
Eif2ak4 C T 2: 118,235,532 (GRCm39) P88S probably damaging Het
Epha6 C A 16: 59,503,031 (GRCm39) V959F probably damaging Het
Fam193a C A 5: 34,623,165 (GRCm39) T1251K possibly damaging Het
Herc1 A T 9: 66,389,171 (GRCm39) Q3896L probably benign Het
Ikbip C A 10: 90,919,090 (GRCm39) D34E probably benign Het
Insr A G 8: 3,308,481 (GRCm39) V185A probably benign Het
Jakmip1 C T 5: 37,332,109 (GRCm39) Q930* probably null Het
Klc1 A G 12: 111,743,299 (GRCm39) I209V probably benign Het
Lrrk2 T A 15: 91,648,985 (GRCm39) L1660M probably damaging Het
Mbd3l1 G T 9: 18,396,210 (GRCm39) D112Y possibly damaging Het
Mrps2 T A 2: 28,358,258 (GRCm39) V16E probably benign Het
Ncoa1 G A 12: 4,372,978 (GRCm39) T141I possibly damaging Het
Ndst2 G T 14: 20,779,911 (GRCm39) R110S probably damaging Het
Nlrp2 A G 7: 5,331,616 (GRCm39) V260A probably damaging Het
Or4d10 A G 19: 12,051,576 (GRCm39) I140T probably benign Het
Or51a6 A T 7: 102,604,460 (GRCm39) V116E probably damaging Het
Or5p1 A G 7: 107,916,959 (GRCm39) N286S probably damaging Het
Or7g16 A T 9: 18,726,904 (GRCm39) S229T probably benign Het
Pah T C 10: 87,406,148 (GRCm39) V262A probably damaging Het
Pcnt T G 10: 76,205,738 (GRCm39) E2538A probably damaging Het
Pdxk T A 10: 78,282,810 (GRCm39) I162F probably damaging Het
Plod2 T C 9: 92,455,650 (GRCm39) F110L probably damaging Het
Pm20d2 A T 4: 33,187,186 (GRCm39) L154Q probably damaging Het
Podxl2 C T 6: 88,820,566 (GRCm39) V445I possibly damaging Het
Ppp1r3a A T 6: 14,719,235 (GRCm39) W560R probably benign Het
Rasal3 A G 17: 32,611,683 (GRCm39) S815P probably damaging Het
Rdm1 A G 11: 101,524,654 (GRCm39) K196E probably damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Scn1a T C 2: 66,181,286 (GRCm39) D79G possibly damaging Het
Slc22a21 A G 11: 53,870,329 (GRCm39) Y119H possibly damaging Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Synrg C A 11: 83,930,498 (GRCm39) A1280E possibly damaging Het
Szt2 A G 4: 118,232,676 (GRCm39) C2396R unknown Het
Trappc3 A G 4: 126,167,726 (GRCm39) N95S probably benign Het
Tulp4 C T 17: 6,282,055 (GRCm39) H695Y probably damaging Het
Ush2a T A 1: 188,113,681 (GRCm39) D633E probably benign Het
Wasl G A 6: 24,633,186 (GRCm39) P151S probably benign Het
Wwp2 A G 8: 108,209,988 (GRCm39) N122S probably benign Het
Zfp51 A G 17: 21,683,831 (GRCm39) R149G possibly damaging Het
Zfp764 A G 7: 127,003,887 (GRCm39) S415P 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
R0455:C1qtnf9 UTSW 14 61,009,820 (GRCm39) missense probably damaging 1.00
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
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'- TTGGTCCTACAGGAGAGCAAG -3'
(R):5'- TCCCCGTCGCTACATTGTAG -3'

Sequencing Primer
(F):5'- GGCTGCCAGGAGAGACTG -3'
(R):5'- CCGTCGCTACATTGTAGTGGTTC -3'
Posted On 2019-05-15