Incidental Mutation 'IGL00585:C1qtnf9'
ID 4178
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 # IGL00585
Quality Score
Status
Chromosome 14
Chromosomal Location 61005583-61018318 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61017442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 324 (F324S)
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: F324S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025940
Gene: ENSMUSG00000071347
AA Change: F324S

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T A 17: 24,519,294 (GRCm39) I664F probably damaging Het
Abcg4 A T 9: 44,192,920 (GRCm39) M142K probably benign Het
Afdn A G 17: 14,104,890 (GRCm39) T1198A probably damaging Het
Angptl2 T C 2: 33,136,239 (GRCm39) S475P probably damaging Het
Ap3s2 T C 7: 79,565,824 (GRCm39) E34G probably benign Het
Cacng7 A G 7: 3,414,547 (GRCm39) Y170C probably damaging Het
Ceacam18 G A 7: 43,286,435 (GRCm39) V103M possibly damaging Het
Chrnb1 G A 11: 69,684,742 (GRCm39) P144S probably damaging Het
Chuk T C 19: 44,066,751 (GRCm39) H652R probably damaging Het
Ckap5 C T 2: 91,450,170 (GRCm39) L1948F probably damaging Het
Clstn1 A T 4: 149,722,769 (GRCm39) H469L probably benign Het
Csf2rb2 C T 15: 78,169,047 (GRCm39) G594S possibly damaging Het
Ctsq A T 13: 61,184,941 (GRCm39) D248E probably benign Het
Ep400 A T 5: 110,903,771 (GRCm39) I276K possibly damaging Het
Gbf1 G A 19: 46,272,688 (GRCm39) probably null Het
Gldn T A 9: 54,245,748 (GRCm39) I433N probably damaging Het
Gm136 T A 4: 34,752,322 (GRCm39) E69V probably damaging Het
Gm28177 T C 1: 52,121,738 (GRCm39) probably null Het
Gtf2h2 A G 13: 100,617,506 (GRCm39) probably benign Het
Ints12 T C 3: 132,806,570 (GRCm39) probably null Het
Ltbp4 T C 7: 27,026,158 (GRCm39) D615G probably damaging Het
Mgme1 C T 2: 144,113,909 (GRCm39) P4S probably benign Het
Nae1 A G 8: 105,252,910 (GRCm39) probably null Het
Nup133 G A 8: 124,636,733 (GRCm39) A956V probably damaging Het
Oacyl T A 18: 65,882,711 (GRCm39) M529K possibly damaging Het
Osbpl1a T A 18: 12,890,683 (GRCm39) E519V possibly damaging Het
Pacs1 A T 19: 5,203,726 (GRCm39) V333E probably damaging Het
Pik3c3 T G 18: 30,436,131 (GRCm39) probably benign Het
Polh C T 17: 46,483,169 (GRCm39) probably benign Het
Ppp6r3 A G 19: 3,540,826 (GRCm39) C431R probably damaging Het
Pprc1 T C 19: 46,051,087 (GRCm39) S206P possibly damaging Het
Rab20 A G 8: 11,504,212 (GRCm39) Y163H probably benign Het
Sde2 T A 1: 180,683,383 (GRCm39) C46S possibly damaging Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Spata20 T G 11: 94,369,943 (GRCm39) L784F probably damaging Het
Tnnt1 A C 7: 4,510,549 (GRCm39) M224R possibly damaging Het
Trank1 T C 9: 111,178,358 (GRCm39) F349L possibly damaging Het
Ttf1 T C 2: 28,963,895 (GRCm39) probably benign Het
Usp54 T A 14: 20,623,905 (GRCm39) S651C probably damaging Het
Vps45 A G 3: 95,907,378 (GRCm39) *571R probably null Het
Yod1 G A 1: 130,646,870 (GRCm39) G249E probably damaging Het
Ythdc2 A G 18: 44,997,428 (GRCm39) Y340C probably damaging Het
Zfp366 G A 13: 99,383,080 (GRCm39) probably benign Het
Zfp648 T A 1: 154,079,935 (GRCm39) D31E possibly damaging Het
Other mutations in C1qtnf9
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20