Incidental Mutation 'IGL03053:C1qtnf12'
ID409136
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 #IGL03053
Quality Score
Status
Chromosome4
Chromosomal Location155962318-155966629 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 155966464 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 297 (N297Y)
Ref Sequence ENSEMBL: ENSMUSP00000024338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024338]
Predicted Effect probably damaging
Transcript: ENSMUST00000024338
AA Change: N297Y

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000024338
Gene: ENSMUSG00000023571
AA Change: N297Y

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 G A 4: 106,755,853 Q342* probably null Het
Arglu1 T A 8: 8,683,960 I119L probably benign Het
Atp1a2 G A 1: 172,278,356 T914I probably damaging Het
Birc6 C T 17: 74,565,972 R409C probably damaging Het
Brwd1 A T 16: 96,017,677 S1318R possibly damaging Het
Cbwd1 T A 19: 24,955,377 E97D probably damaging Het
Cyp2a4 A T 7: 26,313,550 probably benign Het
Cyp2j7 C T 4: 96,230,037 M106I probably benign Het
Dis3 A G 14: 99,098,734 V112A probably benign Het
Ehd3 A G 17: 73,805,442 Y67C probably damaging Het
Elavl4 A T 4: 110,251,494 S16T possibly damaging Het
F2rl1 A C 13: 95,513,618 V252G probably benign Het
Fggy A T 4: 95,926,809 probably benign Het
Hc G T 2: 35,024,198 N832K probably benign Het
Hnf1a T A 5: 114,970,733 M38L probably benign Het
Kif13a T C 13: 46,752,088 N793S probably benign Het
Kit A G 5: 75,610,914 N244D probably benign Het
Mb21d1 A T 9: 78,437,437 F234Y probably benign Het
Mgat5b A G 11: 116,923,450 E60G possibly damaging Het
Obsl1 T C 1: 75,493,079 H1098R probably benign Het
Olfr1094 A G 2: 86,829,263 I170M possibly damaging Het
Olfr1178 A G 2: 88,391,594 M116V probably damaging Het
Olfr1230 A C 2: 89,296,445 I275S probably damaging Het
Olfr138 A C 17: 38,274,791 S7R probably damaging Het
Olfr166 A T 16: 19,487,219 H127L probably benign Het
Olfr198 A G 16: 59,202,247 Y60H probably damaging Het
Olfr215 T C 6: 116,582,245 R234G possibly damaging Het
Pitpnm2 A G 5: 124,143,601 I42T probably damaging Het
Prkd2 A G 7: 16,850,263 D347G possibly damaging Het
Prkdc A G 16: 15,834,166 I3806V probably benign Het
Rasgrp2 T C 19: 6,407,332 probably benign Het
Rc3h1 T A 1: 160,955,817 D734E probably benign Het
Rtel1 A G 2: 181,351,944 K619E probably benign Het
Tnfrsf26 T C 7: 143,614,860 D147G possibly damaging Het
Ufl1 A G 4: 25,275,833 I110T probably damaging Het
Ugt2b36 A G 5: 87,092,074 S151P possibly damaging Het
Vmn2r25 T C 6: 123,823,118 Y755C probably damaging Het
Zfhx3 T C 8: 108,946,500 V1394A probably damaging Het
Zzef1 G T 11: 72,831,539 probably benign Het
Other mutations in C1qtnf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:C1qtnf12 APN 4 155966429 missense possibly damaging 0.93
IGL01832:C1qtnf12 APN 4 155965866 missense probably damaging 1.00
IGL02015:C1qtnf12 APN 4 155962744 unclassified probably benign
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 On2016-08-02