Incidental Mutation 'R9289:C1qtnf1'
ID 704160
Institutional Source Beutler Lab
Gene Symbol C1qtnf1
Ensembl Gene ENSMUSG00000017446
Gene Name C1q and tumor necrosis factor related protein 1
Synonyms 1600017K21Rik, CTRP1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R9289 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 118428203-118449963 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118443846 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 51 (T51A)
Ref Sequence ENSEMBL: ENSMUSP00000017590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017590] [ENSMUST00000106286] [ENSMUST00000124861] [ENSMUST00000133558]
AlphaFold Q9QXP7
Predicted Effect probably benign
Transcript: ENSMUST00000017590
AA Change: T51A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000017590
Gene: ENSMUSG00000017446
AA Change: T51A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 85 96 N/A INTRINSIC
C1Q 140 278 8.4e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106286
AA Change: T51A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101893
Gene: ENSMUSG00000017446
AA Change: T51A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 85 96 N/A INTRINSIC
C1Q 140 278 8.6e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124861
Predicted Effect probably benign
Transcript: ENSMUST00000133558
AA Change: T51A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117467
Gene: ENSMUSG00000017446
AA Change: T51A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (53/53)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered glucose and lipid homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik C T 5: 145,045,523 T306I probably benign Het
Aurkb T C 11: 69,050,349 I250T probably damaging Het
C1rb G T 6: 124,575,313 R330L possibly damaging Het
Cd8b1 G A 6: 71,329,793 probably null Het
Cep57l1 A T 10: 41,731,086 D160E probably damaging Het
Ces1f C T 8: 93,265,863 S320N probably benign Het
Cfap54 A G 10: 92,821,074 S3039P possibly damaging Het
Chia1 A T 3: 106,115,186 probably benign Het
Chka T G 19: 3,885,953 F220V possibly damaging Het
Cmtm2b A G 8: 104,322,348 probably benign Het
Dgcr8 C T 16: 18,280,215 probably benign Het
Dhx30 T C 9: 110,091,535 T304A possibly damaging Het
Dhx30 A T 9: 110,093,121 D164E probably benign Het
Dip2b A T 15: 100,173,271 K661I probably damaging Het
Dlgap4 G T 2: 156,704,594 R394L possibly damaging Het
Dopey2 T A 16: 93,771,793 L1581H probably damaging Het
Fam219a C A 4: 41,521,942 G46V probably damaging Het
Fer1l6 G A 15: 58,618,917 V1028M probably damaging Het
Glb1 C A 9: 114,420,490 A129E probably damaging Het
Gm11492 T A 11: 87,568,966 C513* probably null Het
Heatr1 T C 13: 12,432,727 V1767A probably benign Het
Ift88 T A 14: 57,480,742 S591T probably benign Het
Itgb4 A G 11: 115,994,361 K1023R probably benign Het
Mfng C A 15: 78,759,257 S250I probably damaging Het
Mmp9 A G 2: 164,954,880 T723A probably benign Het
Mzf1 T A 7: 13,051,607 H299L probably benign Het
Naa40 T C 19: 7,234,120 K47E possibly damaging Het
Ncdn A C 4: 126,750,110 F306L possibly damaging Het
Notch3 A G 17: 32,158,280 C246R probably damaging Het
Npc1l1 A T 11: 6,218,355 Y945* probably null Het
Olfr136 A T 17: 38,335,429 T91S possibly damaging Het
Olfr1384 C T 11: 49,513,808 P57S probably damaging Het
Olfr332 T A 11: 58,489,919 I279L probably benign Het
Olfr669 T C 7: 104,938,609 W28R probably damaging Het
Pcnx C A 12: 81,982,079 D1044E Het
Pgm2l1 T A 7: 100,270,422 I575K probably damaging Het
Plat T C 8: 22,782,084 I553T probably damaging Het
Prrc2c A G 1: 162,679,561 V2513A probably benign Het
Qser1 A T 2: 104,787,248 V983E possibly damaging Het
Ring1 A G 17: 34,022,573 S190P possibly damaging Het
Rnf150 A G 8: 82,990,353 E163G probably benign Het
Scgb2b12 T C 7: 32,326,635 H44R probably benign Het
Shtn1 T C 19: 59,009,825 K379E probably damaging Het
Slc52a2 G T 15: 76,540,275 V238L probably benign Het
Smg1 T C 7: 118,145,416 H3171R possibly damaging Het
Tada3 A G 6: 113,370,303 V342A possibly damaging Het
Tbc1d20 T C 2: 152,311,342 V264A probably damaging Het
Tmco5 G A 2: 116,880,264 A22T probably benign Het
Tmem63b A G 17: 45,664,771 F549S probably benign Het
Trav16d-dv11 T C 14: 53,047,629 F54S probably benign Het
Trim7 A T 11: 48,845,454 K5* probably null Het
Usp48 G A 4: 137,613,685 G332E probably benign Het
Zfp78 T C 7: 6,378,368 I139T probably benign Het
Zfp839 T A 12: 110,868,444 V711D probably benign Het
Other mutations in C1qtnf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01805:C1qtnf1 APN 11 118448167 missense probably damaging 1.00
IGL02376:C1qtnf1 APN 11 118448068 missense probably benign 0.29
IGL02609:C1qtnf1 APN 11 118448004 missense probably damaging 1.00
R0594:C1qtnf1 UTSW 11 118446628 missense possibly damaging 0.96
R1170:C1qtnf1 UTSW 11 118448269 missense probably damaging 1.00
R1442:C1qtnf1 UTSW 11 118448185 missense probably damaging 1.00
R1526:C1qtnf1 UTSW 11 118443790 missense possibly damaging 0.92
R1540:C1qtnf1 UTSW 11 118447923 missense probably benign 0.28
R1896:C1qtnf1 UTSW 11 118443757 missense probably damaging 1.00
R2011:C1qtnf1 UTSW 11 118448284 missense probably benign 0.04
R2012:C1qtnf1 UTSW 11 118448284 missense probably benign 0.04
R2901:C1qtnf1 UTSW 11 118448104 splice site probably null
R2902:C1qtnf1 UTSW 11 118448104 splice site probably null
R4011:C1qtnf1 UTSW 11 118446539 missense probably benign
R4897:C1qtnf1 UTSW 11 118448112 missense probably damaging 1.00
R6335:C1qtnf1 UTSW 11 118448134 missense probably damaging 1.00
R7250:C1qtnf1 UTSW 11 118448350 makesense probably null
R8322:C1qtnf1 UTSW 11 118447857 missense probably benign 0.00
R8558:C1qtnf1 UTSW 11 118448323 missense probably damaging 0.99
R8679:C1qtnf1 UTSW 11 118446514 nonsense probably null
R8920:C1qtnf1 UTSW 11 118448242 missense possibly damaging 0.95
X0021:C1qtnf1 UTSW 11 118443780 nonsense probably null
Z1177:C1qtnf1 UTSW 11 118443754 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGCTGTTCTCTGTAGAATCCC -3'
(R):5'- ACGGCCATCCTCATAATCAG -3'

Sequencing Primer
(F):5'- GTAGAATCCCTTCCTAACCCATG -3'
(R):5'- TCAGACAAGATGCTCAAGTCACGG -3'
Posted On 2022-03-25