Incidental Mutation 'R1313:C1qtnf12'
ID 175052
Institutional Source Beutler Lab
Gene Symbol C1qtnf12
Ensembl Gene ENSMUSG00000023571
Gene Name C1q and tumor necrosis factor related 12
Synonyms 1110035L05Rik, Fam132a, adipolin, alipolin, C1qdc2
MMRRC Submission 039379-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1313 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 156046775-156051086 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 156050331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 223 (E223K)
Ref Sequence ENSEMBL: ENSMUSP00000024338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024338]
AlphaFold Q8R2Z0
Predicted Effect probably damaging
Transcript: ENSMUST00000024338
AA Change: E223K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000024338
Gene: ENSMUSG00000023571
AA Change: E223K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 94 118 N/A INTRINSIC
Blast:TNF 168 305 1e-17 BLAST
SCOP:d1gr3a_ 192 306 2e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149558
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankle1 A G 8: 71,859,857 (GRCm39) E145G possibly damaging Het
Bltp2 A G 11: 78,156,498 (GRCm39) T226A probably benign Het
Cep250 C T 2: 155,813,999 (GRCm39) A589V probably damaging Het
Clhc1 A G 11: 29,521,678 (GRCm39) I404V probably benign Het
Ddi1 T C 9: 6,265,769 (GRCm39) E200G probably damaging Het
Dmxl1 T C 18: 50,011,550 (GRCm39) S1236P probably damaging Het
Dpyd G T 3: 118,692,810 (GRCm39) probably benign Het
Ercc6 C T 14: 32,274,677 (GRCm39) probably benign Het
Gatb A G 3: 85,561,133 (GRCm39) I550V probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hnrnpul1 G T 7: 25,422,341 (GRCm39) probably benign Het
Ints1 T C 5: 139,748,661 (GRCm39) T1049A probably benign Het
Lilrb4a C T 10: 51,356,832 (GRCm39) T6I probably benign Het
Mocs1 A T 17: 49,761,297 (GRCm39) T464S probably benign Het
Myo15b T C 11: 115,775,955 (GRCm39) S816P probably damaging Het
Ogfr T C 2: 180,236,423 (GRCm39) L336P probably benign Het
Or5p53 A T 7: 107,532,975 (GRCm39) M83L probably benign Het
Psapl1 C A 5: 36,362,610 (GRCm39) Q401K probably benign Het
Rps26-ps1 T A 8: 108,166,089 (GRCm39) probably benign Het
Sh3rf3 C A 10: 58,907,821 (GRCm39) Q450K possibly damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Stat1 C T 1: 52,195,165 (GRCm39) T720I probably damaging Het
Vav1 G A 17: 57,616,498 (GRCm39) probably benign Het
Other mutations in C1qtnf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:C1qtnf12 APN 4 156,050,886 (GRCm39) missense possibly damaging 0.93
IGL01832:C1qtnf12 APN 4 156,050,323 (GRCm39) missense probably damaging 1.00
IGL02015:C1qtnf12 APN 4 156,047,201 (GRCm39) unclassified probably benign
IGL03053:C1qtnf12 APN 4 156,050,921 (GRCm39) missense probably damaging 0.99
R1313:C1qtnf12 UTSW 4 156,050,331 (GRCm39) missense probably damaging 0.96
R1315:C1qtnf12 UTSW 4 156,050,331 (GRCm39) missense probably damaging 0.96
R1316:C1qtnf12 UTSW 4 156,050,331 (GRCm39) missense probably damaging 0.96
R1412:C1qtnf12 UTSW 4 156,047,190 (GRCm39) missense probably benign
R1487:C1qtnf12 UTSW 4 156,050,331 (GRCm39) missense probably damaging 0.96
R1828:C1qtnf12 UTSW 4 156,050,160 (GRCm39) critical splice donor site probably null
R2146:C1qtnf12 UTSW 4 156,050,922 (GRCm39) missense probably benign 0.01
R2147:C1qtnf12 UTSW 4 156,050,922 (GRCm39) missense probably benign 0.01
R2148:C1qtnf12 UTSW 4 156,050,922 (GRCm39) missense probably benign 0.01
R2150:C1qtnf12 UTSW 4 156,050,922 (GRCm39) missense probably benign 0.01
R3786:C1qtnf12 UTSW 4 156,050,356 (GRCm39) missense probably damaging 1.00
R6859:C1qtnf12 UTSW 4 156,050,070 (GRCm39) missense probably damaging 1.00
R7252:C1qtnf12 UTSW 4 156,047,072 (GRCm39) missense unknown
R8251:C1qtnf12 UTSW 4 156,050,916 (GRCm39) missense probably damaging 1.00
R8946:C1qtnf12 UTSW 4 156,050,882 (GRCm39) missense probably damaging 1.00
R9564:C1qtnf12 UTSW 4 156,049,473 (GRCm39) missense probably benign 0.01
Z1177:C1qtnf12 UTSW 4 156,050,106 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCAGTCACCTCCTAATTTCCACAG -3'
(R):5'- TTGCTCTCCAGACCTGATACAGCC -3'

Sequencing Primer
(F):5'- TCCTTGGGCCGATTCACAG -3'
(R):5'- TGATACAGCCTCCAGGGAC -3'
Posted On 2014-04-24