Incidental Mutation 'R7070:C1qtnf9'
ID 548854
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 045166-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R7070 (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 61017232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 254 (H254R)
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: H254R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025940
Gene: ENSMUSG00000071347
AA Change: H254R

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 probably benign
Transcript: ENSMUST00000224635
Predicted Effect probably benign
Transcript: ENSMUST00000225043
Predicted Effect probably benign
Transcript: ENSMUST00000225506
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T C 6: 65,930,232 (GRCm39) Y156H probably damaging Het
Abca13 T A 11: 9,240,701 (GRCm39) F855I probably benign Het
Abca2 T G 2: 25,333,007 (GRCm39) F1569V probably benign Het
Adcy8 T A 15: 64,792,404 (GRCm39) N184I probably damaging Het
Akap3 T C 6: 126,850,987 (GRCm39) V835A probably damaging Het
Atg5 T A 10: 44,162,150 (GRCm39) L22H probably damaging Het
Atp13a5 A G 16: 29,152,879 (GRCm39) F196L possibly damaging Het
Capza3 C T 6: 139,987,646 (GRCm39) R82C probably damaging Het
Ccdc126 A G 6: 49,316,796 (GRCm39) D92G probably damaging Het
Cdh12 T A 15: 21,583,915 (GRCm39) M585K probably benign Het
Chrnb3 A T 8: 27,883,989 (GRCm39) Y242F probably damaging Het
Cngb3 T C 4: 19,425,593 (GRCm39) V467A possibly damaging Het
Cnot8 A G 11: 58,008,278 (GRCm39) D248G probably benign Het
Cntn1 C T 15: 92,151,917 (GRCm39) T452M probably damaging Het
Cygb C A 11: 116,544,851 (GRCm39) probably benign Het
D930020B18Rik G A 10: 121,477,879 (GRCm39) V35M probably damaging Het
Dcaf17 C T 2: 70,918,857 (GRCm39) T477M probably benign Het
Dpp3 A T 19: 4,968,356 (GRCm39) F239I probably benign Het
Dst T A 1: 34,314,383 (GRCm39) V6442E probably damaging Het
Enpp2 T A 15: 54,762,685 (GRCm39) I188F probably damaging Het
Galnt5 A G 2: 57,888,621 (GRCm39) M74V probably benign Het
Grin2a T C 16: 9,397,288 (GRCm39) D933G possibly damaging Het
Gtf2i T A 5: 134,311,657 (GRCm39) E223D probably damaging Het
H2-M5 C A 17: 37,300,051 (GRCm39) G41V possibly damaging Het
Hars2 C T 18: 36,924,165 (GRCm39) R501* probably null Het
Heatr4 A G 12: 84,016,632 (GRCm39) V545A probably benign Het
Hsd3b3 T A 3: 98,649,787 (GRCm39) T179S possibly damaging Het
Ighv5-6 A G 12: 113,589,429 (GRCm39) V17A probably damaging Het
Jak3 A G 8: 72,137,255 (GRCm39) D772G probably damaging Het
Jakmip2 A T 18: 43,690,393 (GRCm39) probably null Het
Kcnj15 C G 16: 95,096,690 (GRCm39) T104S probably damaging Het
Kndc1 A G 7: 139,501,744 (GRCm39) E927G probably damaging Het
Larp1b G T 3: 40,931,086 (GRCm39) G275C probably damaging Het
Lyst C A 13: 13,932,029 (GRCm39) H3552Q probably benign Het
Mast2 A T 4: 116,168,052 (GRCm39) I960N probably benign Het
Mcee G A 7: 64,050,078 (GRCm39) V70I possibly damaging Het
Muc16 G A 9: 18,557,219 (GRCm39) Q3025* probably null Het
Nrg1 T A 8: 32,339,465 (GRCm39) T45S probably damaging Het
Nutm1 T A 2: 112,079,806 (GRCm39) H703L probably benign Het
Or5m10 G A 2: 85,718,034 (GRCm39) V297I probably benign Het
Or7a38 A T 10: 78,753,102 (GRCm39) I143L probably benign Het
Pbx1 A C 1: 168,023,337 (GRCm39) C273G probably damaging Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Phf1 A G 17: 27,153,307 (GRCm39) T42A possibly damaging Het
Pigm T A 1: 172,205,233 (GRCm39) I323N probably damaging Het
Plcg2 G A 8: 118,323,045 (GRCm39) R700H probably benign Het
Ptx4 G A 17: 25,341,971 (GRCm39) A149T probably benign Het
Rab6a A G 7: 100,279,064 (GRCm39) D68G probably damaging Het
Rcan3 C T 4: 135,143,898 (GRCm39) E185K probably damaging Het
Rnf14 A G 18: 38,434,781 (GRCm39) N76S possibly damaging Het
Rpf1 A T 3: 146,217,939 (GRCm39) F192I probably damaging Het
Rps6ka1 T C 4: 133,588,759 (GRCm39) T285A probably benign Het
Rrp8 T C 7: 105,384,083 (GRCm39) K94E possibly damaging Het
Rsbn1 A G 3: 103,836,299 (GRCm39) K122E probably damaging Het
Senp1 T C 15: 97,980,187 (GRCm39) T53A possibly damaging Het
Slc23a1 T G 18: 35,754,834 (GRCm39) D519A probably damaging Het
Slfn14 T G 11: 83,167,531 (GRCm39) R661S probably benign Het
Snta1 T C 2: 154,222,979 (GRCm39) E248G probably benign Het
Son CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG 16: 91,453,729 (GRCm39) probably benign Het
Spmap2l G T 5: 77,195,124 (GRCm39) probably null Het
Stk11ip C T 1: 75,504,259 (GRCm39) H297Y probably benign Het
Synpr T A 14: 13,493,628 (GRCm38) F76I probably damaging Het
Tns2 A G 15: 102,012,968 (GRCm39) R27G possibly damaging Het
Trav5-4 C T 14: 53,941,912 (GRCm39) S95F possibly damaging Het
Ttyh1 T C 7: 4,136,363 (GRCm39) Y330H probably damaging Het
Ugt1a2 T A 1: 88,129,224 (GRCm39) probably null Het
Vmn2r69 T C 7: 85,060,688 (GRCm39) I299V probably damaging Het
Vmn2r90 T A 17: 17,924,313 (GRCm39) D37E 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
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
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'- TGCCCAAGAGTGCTTTCAC -3'
(R):5'- TGTGTCAAGAGCTGCTGAAC -3'

Sequencing Primer
(F):5'- GTGCTTTCACTGTGGGACTCAC -3'
(R):5'- GAACGTGGTATCGTCATCCTCG -3'
Posted On 2019-05-13