Incidental Mutation 'IGL02133:Tcaf2'
ID 281085
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcaf2
Ensembl Gene ENSMUSG00000029851
Gene Name TRPM8 channel-associated factor 2
Synonyms Fam115c
Accession Numbers

Ncbi RefSeq: NM_146174.1; MGI:2385258

Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock # IGL02133
Quality Score
Status
Chromosome 6
Chromosomal Location 42623016-42645254 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42627396 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 683 (E683V)
Ref Sequence ENSEMBL: ENSMUSP00000031879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031879]
AlphaFold Q921K8
Predicted Effect probably benign
Transcript: ENSMUST00000031879
AA Change: E683V

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000031879
Gene: ENSMUSG00000029851
AA Change: E683V

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011H14Rik T A 14: 49,232,967 Q165L probably benign Het
9530068E07Rik G T 11: 52,403,510 A193S probably damaging Het
Adam4 A G 12: 81,420,029 V606A probably benign Het
Atp2c2 A G 8: 119,754,335 I821V probably benign Het
Bmi1 A T 2: 18,683,677 R160W probably damaging Het
Ccdc88c G A 12: 100,940,090 R1062C probably damaging Het
Cntnap3 A T 13: 64,751,673 probably benign Het
Col20a1 C T 2: 181,007,144 T940I probably damaging Het
Csmd3 A C 15: 47,857,942 M1535R possibly damaging Het
Dhx38 C A 8: 109,558,241 E487* probably null Het
Fam186b A G 15: 99,273,703 S888P probably damaging Het
Fancm G A 12: 65,106,475 G1235D probably benign Het
Grin3a C T 4: 49,792,946 W262* probably null Het
Gtdc1 A T 2: 44,575,443 M305K probably damaging Het
H2-M9 T C 17: 36,641,737 E139G possibly damaging Het
Haus1 A T 18: 77,766,911 L53Q probably damaging Het
Hgfac A G 5: 35,046,587 Y483C probably damaging Het
Hipk2 C T 6: 38,819,134 V67I probably benign Het
Kbtbd8 T C 6: 95,121,732 probably benign Het
Kndc1 A G 7: 139,920,767 T683A probably benign Het
Ldhb A T 6: 142,492,500 M277K probably benign Het
Mgam T C 6: 40,643,076 L33P probably damaging Het
Ndst1 A G 18: 60,699,546 F571L probably benign Het
Neb G T 2: 52,212,804 probably null Het
Nrxn1 A G 17: 90,643,243 S503P probably damaging Het
Paqr3 A G 5: 97,095,931 V308A probably benign Het
Scnn1g T C 7: 121,743,699 F292L probably damaging Het
Stk3 A G 15: 35,099,516 F88S probably damaging Het
Tprkb T C 6: 85,927,911 V123A probably benign Het
Ush2a T C 1: 188,443,343 Y1213H probably damaging Het
Vwa5b1 A G 4: 138,586,557 probably null Het
Wls A G 3: 159,897,370 Y140C probably damaging Het
Zan A G 5: 137,411,498 S28P possibly 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
IGL01870:Tcaf2 APN 6 42624477 missense possibly damaging 0.47
IGL02208:Tcaf2 APN 6 42629086 missense probably damaging 1.00
IGL02666:Tcaf2 APN 6 42629124 splice site probably benign
jiaozhi UTSW 6 42626437 missense probably damaging 1.00
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
R7964:Tcaf2 UTSW 6 42629706 missense probably benign
R8270:Tcaf2 UTSW 6 42630024 missense probably benign 0.30
R8505:Tcaf2 UTSW 6 42629541 missense probably benign 0.18
R8702:Tcaf2 UTSW 6 42642767 missense probably benign 0.11
R8788:Tcaf2 UTSW 6 42629538 missense probably damaging 1.00
R8979:Tcaf2 UTSW 6 42624470 missense probably damaging 1.00
R9374:Tcaf2 UTSW 6 42642794 missense probably benign 0.02
R9379:Tcaf2 UTSW 6 42642583 missense probably benign 0.00
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 On 2015-04-16