Incidental Mutation 'R6748:C1qtnf9'
ID 530663
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 044865-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R6748 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 61005583-61018318 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61017276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 269 (N269D)
Ref Sequence ENSEMBL: ENSMUSP00000025940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025940] [ENSMUST00000063562] [ENSMUST00000224635] [ENSMUST00000225043] [ENSMUST00000225506]
AlphaFold Q4ZJN1
Predicted Effect probably damaging
Transcript: ENSMUST00000025940
AA Change: N269D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025940
Gene: ENSMUSG00000071347
AA Change: N269D

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 C A 1: 38,574,327 (GRCm39) R178I probably damaging Het
Agr3 A G 12: 35,997,594 (GRCm39) probably null Het
Aoc1 C T 6: 48,883,228 (GRCm39) T368I possibly damaging Het
Aph1c A G 9: 66,740,577 (GRCm39) S50P probably damaging Het
Arhgap30 A G 1: 171,232,378 (GRCm39) E341G possibly damaging Het
Atp8b3 A T 10: 80,361,058 (GRCm39) M926K possibly damaging Het
Cdc42bpb T C 12: 111,261,273 (GRCm39) probably benign Het
Clec4a1 T C 6: 122,910,856 (GRCm39) I237T possibly damaging Het
Clpx A G 9: 65,217,441 (GRCm39) N3S probably benign Het
Col19a1 A G 1: 24,573,151 (GRCm39) I207T unknown Het
Cyp2j8 T A 4: 96,363,782 (GRCm39) T294S probably benign Het
Dnah1 A G 14: 31,021,945 (GRCm39) I1186T probably damaging Het
Dnhd1 T G 7: 105,369,844 (GRCm39) V4423G probably benign Het
Dock4 A T 12: 40,754,465 (GRCm39) I485F probably benign Het
Drd2 T A 9: 49,314,502 (GRCm39) C244* probably null Het
Frmpd1 T A 4: 45,274,397 (GRCm39) I435K probably benign Het
Fzd5 A G 1: 64,774,723 (GRCm39) M346T possibly damaging Het
Gc T C 5: 89,583,431 (GRCm39) T371A probably benign Het
Gm12185 T A 11: 48,807,123 (GRCm39) T23S possibly damaging Het
Hbq1a A G 11: 32,250,169 (GRCm39) probably null Het
Herc1 TCCC TCC 9: 66,408,470 (GRCm39) probably null Het
Il1rap A T 16: 26,541,106 (GRCm39) N449I probably benign Het
Itgb5 T A 16: 33,719,667 (GRCm39) D279E probably damaging Het
Mat2b T A 11: 40,571,021 (GRCm39) I268F probably benign Het
Mtor T C 4: 148,634,641 (GRCm39) F2421L probably damaging Het
Myo5b G A 18: 74,834,574 (GRCm39) R878Q possibly damaging Het
Nkx2-6 A G 14: 69,412,555 (GRCm39) D241G probably benign Het
Or4f14 T A 2: 111,742,702 (GRCm39) N191I possibly damaging Het
Or5h23 T A 16: 58,906,253 (GRCm39) M198L probably benign Het
Pcdhb22 A C 18: 37,651,799 (GRCm39) D89A probably damaging Het
Pcnx2 C T 8: 126,577,074 (GRCm39) R986Q probably damaging Het
Plxna2 A G 1: 194,476,490 (GRCm39) probably null Het
Ppwd1 A T 13: 104,344,538 (GRCm39) Y527* probably null Het
Pramel35 T C 5: 94,000,072 (GRCm39) W38R probably benign Het
Rnf126 A G 10: 79,597,970 (GRCm39) L131P probably benign Het
Rsl1 T A 13: 67,330,688 (GRCm39) C379S probably benign Het
Sec23b A G 2: 144,408,714 (GRCm39) Y133C probably damaging Het
Slc25a24 T A 3: 109,056,823 (GRCm39) V112D possibly damaging Het
Slc35f3 A T 8: 127,121,377 (GRCm39) R413* probably null Het
Tas1r2 T C 4: 139,396,922 (GRCm39) F754L probably damaging Het
Tbc1d14 A G 5: 36,652,598 (GRCm39) S615P probably damaging Het
Ttc17 T C 2: 94,216,447 (GRCm39) K80R probably benign Het
Ttn T C 2: 76,576,428 (GRCm39) T24822A possibly damaging Het
Vmn1r222 C A 13: 23,417,117 (GRCm39) R32L probably benign Het
Zfp354b G A 11: 50,813,659 (GRCm39) T422M probably damaging Het
Zfp407 G A 18: 84,226,955 (GRCm39) T2218M probably 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
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'- GGGACTCACGGTGATCAGTAAG -3'
(R):5'- TGCAGAGTCCTTGTGTCAAG -3'

Sequencing Primer
(F):5'- GACTCACGGTGATCAGTAAGTTCCC -3'
(R):5'- CCTTGTGTCAAGAGCTGCTGAAC -3'
Posted On 2018-08-01