Incidental Mutation 'IGL01832:C1qtnf12'
ID154797
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C1qtnf12
Ensembl Gene ENSMUSG00000023571
Gene NameC1q and tumor necrosis factor related 12
Synonymsalipolin, C1qdc2, Fam132a, 1110035L05Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01832
Quality Score
Status
Chromosome4
Chromosomal Location155962318-155966629 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 155965866 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 220 (D220G)
Ref Sequence ENSEMBL: ENSMUSP00000024338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024338]
Predicted Effect probably damaging
Transcript: ENSMUST00000024338
AA Change: D220G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024338
Gene: ENSMUSG00000023571
AA Change: D220G

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,259,129 T681I probably benign Het
Atg4b T C 1: 93,785,904 probably benign Het
Atp10b T A 11: 43,234,435 M1076K probably damaging Het
Atp23 A T 10: 126,894,345 N111K probably damaging Het
Atxn2 C A 5: 121,806,268 Y72* probably null Het
C2cd3 A T 7: 100,427,214 T1171S possibly damaging Het
Ccdc15 G A 9: 37,311,344 R585W probably damaging Het
Cep152 A C 2: 125,618,494 Y179* probably null Het
Cpa2 T C 6: 30,551,999 S242P probably benign Het
Ctps2 G T X: 162,936,703 probably benign Het
Cttnbp2nl A G 3: 105,011,228 S99P probably damaging Het
Ddx20 A G 3: 105,679,011 S673P probably damaging Het
Erbb4 T C 1: 68,254,566 K722R possibly damaging Het
Ercc8 A G 13: 108,169,459 T123A probably damaging Het
Ermard T C 17: 15,059,849 V87A probably damaging Het
Fkbp8 A G 8: 70,531,545 H182R probably benign Het
Gab2 T C 7: 97,304,238 L606P probably damaging Het
Gls C T 1: 52,168,409 probably null Het
Hook3 A T 8: 26,072,365 M224K possibly damaging Het
Itga5 T A 15: 103,355,949 K298* probably null Het
Lrrc74a C A 12: 86,761,714 T422K probably benign Het
Myh9 A C 15: 77,791,753 D244E probably benign Het
Ndrg4 A G 8: 95,713,319 E349G probably damaging Het
Olfr1158 T A 2: 87,990,169 D19E probably benign Het
Otop2 T C 11: 115,326,943 S202P probably benign Het
Plppr2 C A 9: 21,943,446 R138S possibly damaging Het
Prkaca A C 8: 83,990,737 K206N probably damaging Het
Ptpro C T 6: 137,393,668 T589I possibly damaging Het
Ptprq A G 10: 107,565,839 probably null Het
Slc16a5 T C 11: 115,465,001 V96A probably benign Het
Ssfa2 G A 2: 79,651,418 V481M possibly damaging Het
Tcerg1 A G 18: 42,574,555 K1047E probably damaging Het
Tinag T C 9: 77,031,756 K147E probably benign Het
Urgcp T C 11: 5,717,325 T338A probably damaging Het
Wdr74 C T 19: 8,739,938 R299C probably damaging Het
Zzef1 C T 11: 72,875,066 S1473L probably damaging Het
Other mutations in C1qtnf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:C1qtnf12 APN 4 155966429 missense possibly damaging 0.93
IGL02015:C1qtnf12 APN 4 155962744 unclassified probably benign
IGL03053:C1qtnf12 APN 4 155966464 missense probably damaging 0.99
R1313:C1qtnf12 UTSW 4 155965874 missense probably damaging 0.96
R1313:C1qtnf12 UTSW 4 155965874 missense probably damaging 0.96
R1315:C1qtnf12 UTSW 4 155965874 missense probably damaging 0.96
R1316:C1qtnf12 UTSW 4 155965874 missense probably damaging 0.96
R1412:C1qtnf12 UTSW 4 155962733 missense probably benign
R1487:C1qtnf12 UTSW 4 155965874 missense probably damaging 0.96
R1828:C1qtnf12 UTSW 4 155965703 critical splice donor site probably null
R2146:C1qtnf12 UTSW 4 155966465 missense probably benign 0.01
R2147:C1qtnf12 UTSW 4 155966465 missense probably benign 0.01
R2148:C1qtnf12 UTSW 4 155966465 missense probably benign 0.01
R2150:C1qtnf12 UTSW 4 155966465 missense probably benign 0.01
R3786:C1qtnf12 UTSW 4 155965899 missense probably damaging 1.00
R6859:C1qtnf12 UTSW 4 155965613 missense probably damaging 1.00
R7252:C1qtnf12 UTSW 4 155962615 missense unknown
Z1177:C1qtnf12 UTSW 4 155965649 missense probably damaging 1.00
Posted On2014-02-04