Incidental Mutation 'IGL02738:C1qtnf9'
ID 305748
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C1qtnf9
Ensembl Gene ENSMUSG00000071347
Gene Name C1q and tumor necrosis factor related protein 9
Synonyms 9130217G22Rik, CTRP9
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL02738
Quality Score
Status
Chromosome 14
Chromosomal Location 61005583-61018318 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 61017388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 306 (T306I)
Ref Sequence ENSEMBL: ENSMUSP00000025940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025940] [ENSMUST00000063562] [ENSMUST00000224635] [ENSMUST00000225043] [ENSMUST00000225506]
AlphaFold Q4ZJN1
Predicted Effect probably benign
Transcript: ENSMUST00000025940
AA Change: T306I

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000025940
Gene: ENSMUSG00000071347
AA Change: T306I

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 probably benign
Transcript: ENSMUST00000063562
SMART Domains Protein: ENSMUSP00000069840
Gene: ENSMUSG00000021993

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
Pfam:Peptidase_M3 252 697 5.4e-145 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223709
Predicted Effect probably benign
Transcript: ENSMUST00000224635
Predicted Effect probably benign
Transcript: ENSMUST00000225043
Predicted Effect probably benign
Transcript: ENSMUST00000225506
Coding Region Coverage
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 A T 2: 150,466,792 (GRCm39) probably benign Het
Akr1c21 A T 13: 4,630,300 (GRCm39) N198Y probably damaging Het
Anapc11 A T 11: 120,490,102 (GRCm39) K6I probably benign Het
Angel1 G A 12: 86,752,060 (GRCm39) L554F probably benign Het
Arhgap11a A T 2: 113,663,320 (GRCm39) *988K probably null Het
Arnt T A 3: 95,402,631 (GRCm39) probably null Het
Atp1a3 T A 7: 24,689,901 (GRCm39) D519V possibly damaging Het
Bdp1 C A 13: 100,187,861 (GRCm39) A1575S probably benign Het
Bglap G A 3: 88,291,715 (GRCm39) T3I unknown Het
Brca2 C T 5: 150,490,500 (GRCm39) P3054L probably damaging Het
Btn2a2 C A 13: 23,662,976 (GRCm39) E316* probably null Het
Caprin2 T C 6: 148,744,360 (GRCm39) T1022A probably damaging Het
Cd109 T C 9: 78,598,581 (GRCm39) Y940H probably damaging Het
Cd300ld A G 11: 114,875,076 (GRCm39) L186S probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A T 2: 160,807,618 (GRCm39) S1865R probably benign Het
Chrna2 T C 14: 66,386,889 (GRCm39) V345A probably benign Het
Dnah1 T G 14: 31,014,597 (GRCm39) E1756A probably benign Het
Dnah3 C T 7: 119,564,720 (GRCm39) A2637T probably benign Het
Ern2 A G 7: 121,782,122 (GRCm39) F80S probably damaging Het
Ero1b A G 13: 12,619,322 (GRCm39) I439V possibly damaging Het
Eva1a T G 6: 82,048,211 (GRCm39) S30A probably benign Het
Fer1l4 A G 2: 155,887,648 (GRCm39) L516P probably benign Het
Garin2 T A 12: 78,780,989 (GRCm39) probably benign Het
Hexim2 T C 11: 103,029,103 (GRCm39) S52P probably damaging Het
Hoxb9 A T 11: 96,165,554 (GRCm39) M208L possibly damaging Het
Lbr A G 1: 181,659,778 (GRCm39) V139A probably benign Het
Lcn10 G A 2: 25,574,032 (GRCm39) probably benign Het
Letm2 A G 8: 26,076,789 (GRCm39) I271T probably damaging Het
Lrrc34 T C 3: 30,685,441 (GRCm39) S303G possibly damaging Het
Matn2 C A 15: 34,388,885 (GRCm39) A325D probably benign Het
Mboat4 T C 8: 34,582,258 (GRCm39) L4P probably damaging Het
Mmp1a T A 9: 7,464,301 (GRCm39) probably benign Het
Naip2 T A 13: 100,325,685 (GRCm39) R74S probably benign Het
Neb G T 2: 52,133,862 (GRCm39) Q3374K probably damaging Het
Nup210l A G 3: 90,044,157 (GRCm39) E486G possibly damaging Het
Or4b13 A G 2: 90,082,699 (GRCm39) I211T possibly damaging Het
Or4k51 A C 2: 111,584,699 (GRCm39) Y35S probably damaging Het
Or5m12 A G 2: 85,735,293 (GRCm39) V35A probably benign Het
Or6c69 A T 10: 129,747,200 (GRCm39) probably benign Het
Pde8a A C 7: 80,976,090 (GRCm39) N677H probably damaging Het
Plag1 G A 4: 3,903,812 (GRCm39) Q460* probably null Het
Podnl1 A G 8: 84,858,824 (GRCm39) T550A probably benign Het
Ptpn22 A G 3: 103,781,382 (GRCm39) probably benign Het
Pycr3 A T 15: 75,790,565 (GRCm39) I98N probably damaging Het
Rtn4r A G 16: 17,969,052 (GRCm39) Y160C probably damaging Het
Slc27a4 A G 2: 29,701,238 (GRCm39) N343S probably benign Het
Slc2a4 A G 11: 69,836,940 (GRCm39) Y43H probably damaging Het
Sorbs1 A T 19: 40,365,348 (GRCm39) L145Q probably damaging Het
Speer2 A T 16: 69,658,600 (GRCm39) S22T probably benign Het
Sugp2 G T 8: 70,696,449 (GRCm39) G474V probably damaging Het
Syt3 C T 7: 44,035,447 (GRCm39) S18L possibly damaging Het
Tacc1 T C 8: 25,691,159 (GRCm39) E48G probably damaging Het
Tdrd6 A G 17: 43,931,337 (GRCm39) V2083A probably benign Het
Thra A T 11: 98,655,185 (GRCm39) H355L probably benign Het
Tmem35b C T 4: 127,019,981 (GRCm39) Q34* probably null Het
Unk G T 11: 115,947,017 (GRCm39) G537V probably damaging Het
Usp32 T A 11: 84,974,632 (GRCm39) D92V probably damaging Het
Vmn1r209 G T 13: 22,990,290 (GRCm39) Y133* probably null Het
Vmn1r42 A G 6: 89,821,630 (GRCm39) V313A possibly damaging Het
Vnn1 A G 10: 23,780,520 (GRCm39) I503V probably benign Het
Vwa2 G A 19: 56,886,361 (GRCm39) G143R 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
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
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
Posted On 2015-04-16