Incidental Mutation 'R8322:C1qtnf1'
ID 642031
Institutional Source Beutler Lab
Gene Symbol C1qtnf1
Ensembl Gene ENSMUSG00000017446
Gene Name C1q and tumor necrosis factor related protein 1
Synonyms 1600017K21Rik, CTRP1
MMRRC Submission 067798-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8322 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 118319029-118340789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118338683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 118 (S118P)
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: S118P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000017590
Gene: ENSMUSG00000017446
AA Change: S118P

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: S118P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101893
Gene: ENSMUSG00000017446
AA Change: S118P

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
SMART Domains Protein: ENSMUSP00000117467
Gene: ENSMUSG00000017446

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
Meta Mutation Damage Score 0.0762 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (64/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,199,219 (GRCm39) S209G probably benign Het
Aars1 T C 8: 111,772,160 (GRCm39) L450P possibly damaging Het
Acsbg1 G A 9: 54,523,268 (GRCm39) T453M probably benign Het
Aff3 A G 1: 38,220,742 (GRCm39) S1100P possibly damaging Het
B4galt5 G A 2: 167,190,849 (GRCm39) A35V probably benign Het
Ceacam20 A T 7: 19,705,628 (GRCm39) E206D probably damaging Het
Celsr3 T C 9: 108,725,993 (GRCm39) L3066P probably damaging Het
Cers3 T G 7: 66,439,386 (GRCm39) L299R probably damaging Het
Cfhr2 G T 1: 139,738,696 (GRCm39) H288Q probably benign Het
Cnot1 A T 8: 96,496,472 (GRCm39) M278K probably benign Het
Cnot10 T C 9: 114,456,537 (GRCm39) E166G probably damaging Het
Ctsd T A 7: 141,939,197 (GRCm39) D76V probably damaging Het
Cyp1a1 T A 9: 57,610,003 (GRCm39) F472L probably damaging Het
Dusp19 T A 2: 80,454,635 (GRCm39) D118E probably damaging Het
Dusp29 A T 14: 21,752,950 (GRCm39) D65E probably damaging Het
Eif2ak3 C A 6: 70,855,903 (GRCm39) R236S probably damaging Het
Fam169a A G 13: 97,259,260 (GRCm39) T439A probably benign Het
Flg T C 3: 93,191,639 (GRCm39) Y11H unknown Het
Fn1 T A 1: 71,667,618 (GRCm39) I792L probably benign Het
Fzd7 T C 1: 59,522,242 (GRCm39) S42P probably benign Het
Gimap3 A G 6: 48,742,370 (GRCm39) S187P possibly damaging Het
Gli1 C A 10: 127,167,477 (GRCm39) R592L probably damaging Het
Glt8d2 A T 10: 82,498,037 (GRCm39) I124N probably damaging Het
Hbp1 C T 12: 31,983,387 (GRCm39) D356N probably damaging Het
Hif1a T C 12: 73,986,373 (GRCm39) S367P probably benign Het
Hspg2 C G 4: 137,246,290 (GRCm39) P1023A possibly damaging Het
Itpr1 C A 6: 108,365,190 (GRCm39) N880K probably benign Het
Kank1 T C 19: 25,355,842 (GRCm39) probably benign Het
Kat2a T C 11: 100,603,116 (GRCm39) T39A unknown Het
Kcnk2 T A 1: 189,072,046 (GRCm39) Q98L probably benign Het
Kcnn4 G A 7: 24,083,545 (GRCm39) G409S probably benign Het
Klrb1 T A 6: 128,690,576 (GRCm39) I49F probably damaging Het
Larp4 G A 15: 99,908,237 (GRCm39) V573I probably benign Het
Lrpprc A G 17: 85,047,496 (GRCm39) probably null Het
Mybl1 A G 1: 9,746,506 (GRCm39) S385P probably damaging Het
Nup62 T C 7: 44,478,440 (GRCm39) S152P possibly damaging Het
Obi1 A T 14: 104,717,091 (GRCm39) D427E probably damaging Het
Or11a4 A G 17: 37,536,241 (GRCm39) Y75C probably damaging Het
Pcdh12 G A 18: 38,414,630 (GRCm39) Q832* probably null Het
Pcid2 A G 8: 13,128,555 (GRCm39) I368T probably damaging Het
Pcnx4 T A 12: 72,603,437 (GRCm39) F492I probably damaging Het
Pi4ka A G 16: 17,175,437 (GRCm39) Y464H Het
Plekhg5 T G 4: 152,189,201 (GRCm39) S260R possibly damaging Het
Prkdc T A 16: 15,532,005 (GRCm39) probably benign Het
Prr14 A T 7: 127,072,999 (GRCm39) E115D probably benign Het
Rab3gap2 A T 1: 184,978,877 (GRCm39) N285Y probably benign Het
Rhot1 T A 11: 80,148,386 (GRCm39) C609S possibly damaging Het
Rnf123 T C 9: 107,945,706 (GRCm39) Q360R probably benign Het
Rrp12 T C 19: 41,868,658 (GRCm39) T562A probably benign Het
Rundc1 G A 11: 101,322,992 (GRCm39) G317D probably benign Het
Rusf1 C T 7: 127,889,786 (GRCm39) R1H probably damaging Het
Slc14a1 A T 18: 78,145,656 (GRCm39) I426N possibly damaging Het
Slc23a1 C T 18: 35,755,588 (GRCm39) G436E probably damaging Het
Slc45a3 A G 1: 131,905,523 (GRCm39) D182G probably damaging Het
Sos1 A T 17: 80,715,728 (GRCm39) F1010I probably damaging Het
Tap1 A G 17: 34,412,163 (GRCm39) E456G probably damaging Het
Tha1 A T 11: 117,759,493 (GRCm39) V332E probably damaging Het
Tmem18 T A 12: 30,638,517 (GRCm39) I93N probably damaging Het
Tnrc18 A G 5: 142,711,767 (GRCm39) F2664S probably damaging Het
Tpm3 T A 3: 89,981,011 (GRCm39) probably benign Het
Ttc3 A G 16: 94,255,351 (GRCm39) E1615G probably damaging Het
Ube3b A G 5: 114,540,747 (GRCm39) T485A probably benign Het
Vmn2r92 A G 17: 18,386,886 (GRCm39) Y75C probably damaging Het
Zfp169 T C 13: 48,644,575 (GRCm39) D184G unknown Het
Other mutations in C1qtnf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01805:C1qtnf1 APN 11 118,338,993 (GRCm39) missense probably damaging 1.00
IGL02376:C1qtnf1 APN 11 118,338,894 (GRCm39) missense probably benign 0.29
IGL02609:C1qtnf1 APN 11 118,338,830 (GRCm39) missense probably damaging 1.00
R0594:C1qtnf1 UTSW 11 118,337,454 (GRCm39) missense possibly damaging 0.96
R1170:C1qtnf1 UTSW 11 118,339,095 (GRCm39) missense probably damaging 1.00
R1442:C1qtnf1 UTSW 11 118,339,011 (GRCm39) missense probably damaging 1.00
R1526:C1qtnf1 UTSW 11 118,334,616 (GRCm39) missense possibly damaging 0.92
R1540:C1qtnf1 UTSW 11 118,338,749 (GRCm39) missense probably benign 0.28
R1896:C1qtnf1 UTSW 11 118,334,583 (GRCm39) missense probably damaging 1.00
R2011:C1qtnf1 UTSW 11 118,339,110 (GRCm39) missense probably benign 0.04
R2012:C1qtnf1 UTSW 11 118,339,110 (GRCm39) missense probably benign 0.04
R2901:C1qtnf1 UTSW 11 118,338,930 (GRCm39) splice site probably null
R2902:C1qtnf1 UTSW 11 118,338,930 (GRCm39) splice site probably null
R4011:C1qtnf1 UTSW 11 118,337,365 (GRCm39) missense probably benign
R4897:C1qtnf1 UTSW 11 118,338,938 (GRCm39) missense probably damaging 1.00
R6335:C1qtnf1 UTSW 11 118,338,960 (GRCm39) missense probably damaging 1.00
R7250:C1qtnf1 UTSW 11 118,339,176 (GRCm39) makesense probably null
R8558:C1qtnf1 UTSW 11 118,339,149 (GRCm39) missense probably damaging 0.99
R8679:C1qtnf1 UTSW 11 118,337,340 (GRCm39) nonsense probably null
R8920:C1qtnf1 UTSW 11 118,339,068 (GRCm39) missense possibly damaging 0.95
R9289:C1qtnf1 UTSW 11 118,334,672 (GRCm39) missense probably benign 0.00
X0021:C1qtnf1 UTSW 11 118,334,606 (GRCm39) nonsense probably null
Z1177:C1qtnf1 UTSW 11 118,334,580 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGAAAGTGTGCCCTTTGGATG -3'
(R):5'- GTAGAGGTTCACAAACTCCGTG -3'

Sequencing Primer
(F):5'- TGCCCTTTGGATGCACACAG -3'
(R):5'- GGTTCACAAACTCCGTGTCGAAG -3'
Posted On 2020-07-28