Incidental Mutation 'IGL02015:C1qtnf12'
ID183720
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 #IGL02015
Quality Score
Status
Chromosome4
Chromosomal Location155962318-155966629 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 155962744 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024056] [ENSMUST00000024338] [ENSMUST00000166489]
Predicted Effect probably benign
Transcript: ENSMUST00000024056
SMART Domains Protein: ENSMUSP00000024056
Gene: ENSMUSG00000023286

DomainStartEndE-ValueType
UBCc 27 181 3.22e-31 SMART
low complexity region 218 234 N/A INTRINSIC
Blast:UBCc 235 270 7e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000024338
SMART Domains Protein: ENSMUSP00000024338
Gene: ENSMUSG00000023571

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
Predicted Effect probably benign
Transcript: ENSMUST00000166489
SMART Domains Protein: ENSMUSP00000127712
Gene: ENSMUSG00000023286

DomainStartEndE-ValueType
UBCc 15 169 3.22e-31 SMART
low complexity region 206 222 N/A INTRINSIC
Blast:UBCc 223 258 7e-6 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9l C A 9: 44,508,801 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
D430041D05Rik A G 2: 104,230,404 Y1382H probably damaging Het
Fut1 A T 7: 45,618,975 M118L probably damaging Het
Fzd5 A T 1: 64,736,342 C87S probably damaging Het
Gmcl1 A G 6: 86,707,457 V361A possibly damaging Het
Inpp4a T G 1: 37,389,712 F700V probably damaging Het
Klk1b21 A T 7: 44,104,358 Q22L probably benign Het
Lrp2 T A 2: 69,527,578 Q369L probably benign Het
Mtor C T 4: 148,540,113 Q2117* probably null Het
Naip2 A T 13: 100,161,607 S640R possibly damaging Het
Nt5e T C 9: 88,367,237 I408T probably damaging Het
Olfr509 T A 7: 108,646,013 N188Y probably damaging Het
Olfr572 G A 7: 102,928,192 R188H probably benign Het
Olfr924 T C 9: 38,848,794 S227P probably damaging Het
Plxna1 A G 6: 89,342,451 L590P probably damaging Het
Ppp1r35 T C 5: 137,780,031 probably benign Het
Prmt2 G A 10: 76,226,255 Q39* probably null Het
Ptprg A T 14: 12,237,782 N1413I possibly damaging Het
Ranbp10 C A 8: 105,779,990 G233C probably damaging Het
Rapgef2 A G 3: 79,092,064 probably benign Het
Rilpl2 T C 5: 124,469,813 T115A probably benign Het
Scaf4 T C 16: 90,258,846 S108G unknown Het
Scn10a C T 9: 119,664,951 V430M probably benign Het
Sf3b3 T C 8: 110,816,290 E845G possibly damaging Het
Skint2 C T 4: 112,624,128 R63* probably null Het
Slc35b4 A T 6: 34,170,548 V35D probably damaging Het
Slc6a3 A T 13: 73,544,714 Y151F possibly damaging Het
Susd1 G A 4: 59,315,745 T689I possibly damaging Het
Tbx21 T C 11: 97,098,914 D484G probably benign Het
Tln2 C T 9: 67,361,439 probably benign Het
Traf3 A G 12: 111,252,740 N242S probably benign Het
Xiap T A X: 42,096,610 probably benign Het
Zcchc6 A G 13: 59,789,258 Y790H probably damaging 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
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 On2014-05-07