Incidental Mutation 'R6483:C1qtnf3'
ID517226
Institutional Source Beutler Lab
Gene Symbol C1qtnf3
Ensembl Gene ENSMUSG00000058914
Gene NameC1q and tumor necrosis factor related protein 3
SynonymsCorcs, CTRP3, 2310005P21Rik, CORS-26
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6483 (G1)
Quality Score225.009
Status Validated
Chromosome15
Chromosomal Location10952332-10980150 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 10958070 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022853] [ENSMUST00000110523]
Predicted Effect probably null
Transcript: ENSMUST00000022853
SMART Domains Protein: ENSMUSP00000022853
Gene: ENSMUSG00000058914

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 54 75 N/A INTRINSIC
low complexity region 78 93 N/A INTRINSIC
C1Q 111 245 2.26e-18 SMART
Predicted Effect probably null
Transcript: ENSMUST00000110523
SMART Domains Protein: ENSMUSP00000106152
Gene: ENSMUSG00000058914

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 127 148 N/A INTRINSIC
low complexity region 151 166 N/A INTRINSIC
C1Q 184 318 2.26e-18 SMART
Meta Mutation Damage Score 0.9479 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 100% (46/46)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to collagen-induced arthritis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T G 14: 29,978,581 L39R possibly damaging Het
Amer3 T C 1: 34,587,690 S337P probably damaging Het
Arhgef10l A T 4: 140,616,915 I12K probably damaging Het
Atp2b4 A G 1: 133,729,880 V624A possibly damaging Het
BB014433 A T 8: 15,042,208 L215Q probably benign Het
Bod1l A G 5: 41,821,082 V963A probably benign Het
Bpifa6 T C 2: 153,990,434 L287S probably benign Het
Bsnd A T 4: 106,488,015 L78Q probably damaging Het
Ccdc180 T G 4: 45,921,950 V1008G probably benign Het
Ccl1 T G 11: 82,178,034 D59A possibly damaging Het
Cfap58 T C 19: 47,983,452 I607T probably benign Het
Chd1l G A 3: 97,587,167 A399V probably damaging Het
Cntnap4 C T 8: 112,757,473 P386L possibly damaging Het
Col1a1 G A 11: 94,942,618 probably null Het
Dnajc13 A T 9: 104,207,804 D798E probably damaging Het
Eml6 T G 11: 29,749,875 I1754L probably benign Het
Ercc8 T A 13: 108,183,810 V310D probably damaging Het
Fat2 G A 11: 55,296,345 T1225I probably damaging Het
Gba A G 3: 89,208,603 Y510C probably damaging Het
Gm11595 G A 11: 99,772,555 R100C unknown Het
Gm43302 T A 5: 105,275,860 M416L probably benign Het
Grxcr2 A T 18: 41,991,890 V151E probably benign Het
Gtf2ird2 A G 5: 134,211,225 N296S probably benign Het
Herc1 T A 9: 66,448,529 I2354N possibly damaging Het
Inhbc G A 10: 127,357,440 R236* probably null Het
Itpr2 T C 6: 146,112,477 D2607G possibly damaging Het
Kcnh7 T A 2: 62,845,774 D298V probably benign Het
Klrb1c A G 6: 128,784,185 S160P probably benign Het
Mrgpra2a C G 7: 47,426,689 E274Q probably benign Het
Muc5ac T A 7: 141,802,854 F1059L probably benign Het
Naglu T C 11: 101,071,181 I160T probably damaging Het
Nasp A T 4: 116,618,948 L47Q probably damaging Het
Olfr1037 C A 2: 86,085,440 M112I probably benign Het
Olfr519 C T 7: 108,894,111 V99M possibly damaging Het
Olfr686 T C 7: 105,204,293 T17A probably benign Het
Opa1 C T 16: 29,628,707 T873I possibly damaging Het
Pttg1 A G 11: 43,424,844 F48L probably damaging Het
Rho T C 6: 115,932,257 F85L possibly damaging Het
Rnasel T C 1: 153,754,686 V316A probably benign Het
Slc36a3 A G 11: 55,135,263 I243T probably benign Het
Tada2b G A 5: 36,476,685 T183M possibly damaging Het
Tbc1d22a A G 15: 86,301,567 M286V possibly damaging Het
Trim69 G T 2: 122,167,600 E18* probably null Het
Ttn T C 2: 76,942,050 T2503A possibly damaging Het
Uox C T 3: 146,624,577 R163* probably null Het
Zfp654 T A 16: 64,791,947 N192I possibly damaging Het
Zfp809 G A 9: 22,236,244 R58H probably benign Het
Other mutations in C1qtnf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01361:C1qtnf3 APN 15 10960682 missense probably damaging 1.00
IGL02491:C1qtnf3 APN 15 10971981 missense possibly damaging 0.69
mimosa_pudica UTSW 15 10958070 critical splice donor site probably null
R0083:C1qtnf3 UTSW 15 10975632 missense possibly damaging 0.89
R1136:C1qtnf3 UTSW 15 10978584 missense probably damaging 0.98
R1447:C1qtnf3 UTSW 15 10952649 missense probably damaging 1.00
R1510:C1qtnf3 UTSW 15 10975636 missense probably benign 0.05
R4536:C1qtnf3 UTSW 15 10972027 missense probably damaging 0.98
R5397:C1qtnf3 UTSW 15 10978541 missense probably damaging 0.99
R5833:C1qtnf3 UTSW 15 10975630 missense probably benign 0.06
R6555:C1qtnf3 UTSW 15 10975656 missense probably damaging 0.99
R7324:C1qtnf3 UTSW 15 10952621 missense probably benign 0.04
R7456:C1qtnf3 UTSW 15 10972051 missense probably benign 0.02
R7772:C1qtnf3 UTSW 15 10958044 missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- TCTCTAAGGGTGAAGGCCAG -3'
(R):5'- GAAGTGCCTCCCTTCCTGAAAC -3'

Sequencing Primer
(F):5'- AGGCCAGAAGAACTTATAACATTAAG -3'
(R):5'- CCTGAAACCTTTAGGATTCTAGGAG -3'
Posted On2018-05-21