Incidental Mutation 'IGL01870:Tcaf2'
ID178686
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcaf2
Ensembl Gene ENSMUSG00000029851
Gene NameTRPM8 channel-associated factor 2
SynonymsFam115c
Accession Numbers

Ncbi RefSeq: NM_146174.1; MGI:2385258

Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #IGL01870
Quality Score
Status
Chromosome6
Chromosomal Location42623016-42645254 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 42624477 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 883 (V883I)
Ref Sequence ENSEMBL: ENSMUSP00000031879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031879]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031879
AA Change: V883I

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031879
Gene: ENSMUSG00000029851
AA Change: V883I

DomainStartEndE-ValueType
low complexity region 515 526 N/A INTRINSIC
M60-like 543 842 4.85e-138 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131341
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a A G 13: 30,381,327 D125G probably damaging Het
Arhgap31 T C 16: 38,618,242 K300E probably damaging Het
Cma2 C A 14: 55,973,737 S162Y probably benign Het
Cntn4 A G 6: 106,489,715 T193A possibly damaging Het
Col22a1 T A 15: 71,952,528 M556L probably benign Het
Dld A G 12: 31,335,467 S292P possibly damaging Het
Dnah6 A T 6: 73,032,569 D3746E probably benign Het
Eea1 A G 10: 95,973,986 T9A probably damaging Het
Fam102a T C 2: 32,566,282 S319P probably benign Het
Gbf1 A G 19: 46,285,669 K1714R probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm12794 T A 4: 101,940,690 L95H probably benign Het
H2-M1 A T 17: 36,670,063 M327K probably benign Het
Ifnz T A 4: 88,783,311 S176T possibly damaging Het
Irak4 T C 15: 94,547,870 Y10H probably benign Het
Irx5 T C 8: 92,359,777 F163L probably damaging Het
Jak3 C T 8: 71,680,790 P376S probably damaging Het
Lrrc25 T C 8: 70,617,787 S73P possibly damaging Het
Macf1 C T 4: 123,474,113 G2285D probably damaging Het
Muc4 A T 16: 32,753,196 T1025S probably benign Het
Mylk2 A G 2: 152,915,214 N303S probably benign Het
Olfr111 G A 17: 37,530,664 R229H probably benign Het
Pcnx T C 12: 81,975,893 V1512A probably benign Het
Phlda3 A G 1: 135,766,638 S64G probably benign Het
Pptc7 C A 5: 122,313,602 S40R probably damaging Het
Ptpn4 A C 1: 119,675,547 probably null Het
Slc10a1 T C 12: 80,960,528 M160V probably benign Het
Stac T C 9: 111,572,332 I349V probably benign Het
Synm A G 7: 67,736,118 S157P possibly damaging Het
Tbc1d9b T C 11: 50,162,088 L924P probably damaging Het
Upp1 T C 11: 9,125,700 probably null Het
Whamm C T 7: 81,595,974 T726I probably damaging Het
Other mutations in Tcaf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Tcaf2 APN 6 42630036 nonsense probably null
IGL00909:Tcaf2 APN 6 42624576 missense probably damaging 1.00
IGL01448:Tcaf2 APN 6 42630328 missense probably benign 0.05
IGL02133:Tcaf2 APN 6 42627396 missense probably benign 0.06
IGL02208:Tcaf2 APN 6 42629086 missense probably damaging 1.00
IGL02666:Tcaf2 APN 6 42629124 splice site probably benign
PIT4260001:Tcaf2 UTSW 6 42642805 missense probably damaging 0.97
PIT4382001:Tcaf2 UTSW 6 42624366 makesense probably null
R0029:Tcaf2 UTSW 6 42630159 nonsense probably null
R0029:Tcaf2 UTSW 6 42630159 nonsense probably null
R0047:Tcaf2 UTSW 6 42629613 missense probably benign
R0047:Tcaf2 UTSW 6 42629613 missense probably benign
R0255:Tcaf2 UTSW 6 42642904 missense possibly damaging 0.95
R0617:Tcaf2 UTSW 6 42642511 missense probably damaging 0.97
R1387:Tcaf2 UTSW 6 42624578 missense probably damaging 1.00
R1523:Tcaf2 UTSW 6 42624451 nonsense probably null
R1529:Tcaf2 UTSW 6 42629506 missense probably benign 0.03
R1698:Tcaf2 UTSW 6 42628017 nonsense probably null
R1992:Tcaf2 UTSW 6 42629857 missense probably benign
R2065:Tcaf2 UTSW 6 42628047 missense probably benign 0.12
R2144:Tcaf2 UTSW 6 42642804 missense probably benign 0.45
R2435:Tcaf2 UTSW 6 42630364 missense possibly damaging 0.72
R2519:Tcaf2 UTSW 6 42629431 missense possibly damaging 0.92
R3979:Tcaf2 UTSW 6 42642547 missense probably damaging 1.00
R4093:Tcaf2 UTSW 6 42642838 missense probably damaging 1.00
R4532:Tcaf2 UTSW 6 42626437 missense probably damaging 1.00
R4780:Tcaf2 UTSW 6 42628062 missense probably damaging 1.00
R4906:Tcaf2 UTSW 6 42629745 missense probably benign 0.02
R4993:Tcaf2 UTSW 6 42642640 missense probably damaging 1.00
R5076:Tcaf2 UTSW 6 42629467 missense probably benign 0.16
R5643:Tcaf2 UTSW 6 42642773 missense possibly damaging 0.85
R5644:Tcaf2 UTSW 6 42642773 missense possibly damaging 0.85
R5975:Tcaf2 UTSW 6 42642778 missense probably benign 0.22
R6234:Tcaf2 UTSW 6 42630374 missense probably benign
R6269:Tcaf2 UTSW 6 42627408 missense probably damaging 1.00
R6276:Tcaf2 UTSW 6 42629753 missense probably benign 0.04
R6375:Tcaf2 UTSW 6 42626178 missense probably damaging 0.99
R6523:Tcaf2 UTSW 6 42643019 missense probably benign 0.01
R6825:Tcaf2 UTSW 6 42629518 missense probably benign 0.05
R7039:Tcaf2 UTSW 6 42626140 missense probably damaging 1.00
R7099:Tcaf2 UTSW 6 42630341 missense probably benign 0.02
R7284:Tcaf2 UTSW 6 42629538 missense probably damaging 1.00
R7822:Tcaf2 UTSW 6 42629099 missense possibly damaging 0.95
Y4339:Tcaf2 UTSW 6 42629472 missense probably benign
Y4341:Tcaf2 UTSW 6 42629472 missense probably benign
Z1177:Tcaf2 UTSW 6 42629616 missense probably damaging 1.00
Posted On2014-05-07