Incidental Mutation 'IGL01090:Tcaf1'
ID 51290
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcaf1
Ensembl Gene ENSMUSG00000036667
Gene Name TRPM8 channel-associated factor 1
Synonyms A230020K05Rik, 2810407D09Rik, Fam115a, 3321401G04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.149) question?
Stock # IGL01090
Quality Score
Status
Chromosome 6
Chromosomal Location 42668002-42710088 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 42686622 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 108 (C108F)
Ref Sequence ENSEMBL: ENSMUSP00000114036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045054] [ENSMUST00000045140] [ENSMUST00000121083]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000045054
AA Change: C108F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046137
Gene: ENSMUSG00000036667
AA Change: C108F

DomainStartEndE-ValueType
internal_repeat_1 14 197 6.95e-30 PROSPERO
low complexity region 207 221 N/A INTRINSIC
internal_repeat_1 222 406 6.95e-30 PROSPERO
low complexity region 463 474 N/A INTRINSIC
M60-like 542 841 1.94e-128 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000045140
AA Change: C108F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036379
Gene: ENSMUSG00000036667
AA Change: C108F

DomainStartEndE-ValueType
internal_repeat_1 14 197 6.95e-30 PROSPERO
low complexity region 207 221 N/A INTRINSIC
internal_repeat_1 222 406 6.95e-30 PROSPERO
low complexity region 463 474 N/A INTRINSIC
M60-like 542 841 1.94e-128 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121083
AA Change: C108F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114036
Gene: ENSMUSG00000036667
AA Change: C108F

DomainStartEndE-ValueType
internal_repeat_1 14 197 6.95e-30 PROSPERO
low complexity region 207 221 N/A INTRINSIC
internal_repeat_1 222 406 6.95e-30 PROSPERO
low complexity region 463 474 N/A INTRINSIC
M60-like 542 841 1.94e-128 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151021
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165486
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T C 6: 91,919,118 S316P possibly damaging Het
Actn1 A T 12: 80,199,072 probably null Het
Agbl3 T C 6: 34,799,887 Y443H probably benign Het
Akap13 T A 7: 75,666,531 D578E probably benign Het
Aldoa A T 7: 126,796,035 H292Q probably benign Het
Als2 T C 1: 59,215,616 K194R possibly damaging Het
Bivm C A 1: 44,129,291 H244N probably damaging Het
Cabp5 G A 7: 13,405,487 E146K probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Clcn4 A G 7: 7,294,036 V129A probably benign Het
Clec4g A G 8: 3,719,482 S54P probably damaging Het
Crim1 G T 17: 78,347,229 V645L probably damaging Het
Csta1 T C 16: 36,125,051 T31A probably damaging Het
D930048N14Rik T C 11: 51,653,783 probably benign Het
Dhx34 G T 7: 16,216,256 P329Q probably damaging Het
Dusp16 T C 6: 134,725,949 N193S probably benign Het
Fbn1 A G 2: 125,394,776 probably benign Het
Fbxo46 A G 7: 19,136,803 Y449C probably damaging Het
Fmo4 C A 1: 162,809,785 probably null Het
Foxi3 C A 6: 70,960,745 N320K probably damaging Het
Gm9964 A G 11: 79,296,384 L79P unknown Het
Gpr161 T C 1: 165,306,580 I137T probably damaging Het
Herc1 C T 9: 66,469,175 Q3426* probably null Het
Hps5 C T 7: 46,788,327 R108H probably benign Het
Itch T A 2: 155,206,336 V540E probably damaging Het
L3mbtl1 C A 2: 162,966,005 P520H probably damaging Het
Mvp A G 7: 126,989,687 V636A probably benign Het
Odf4 A G 11: 68,921,952 probably benign Het
Olfr830 A G 9: 18,876,242 K305R probably benign Het
Pld1 T C 3: 28,088,667 S675P probably benign Het
Plod3 A G 5: 136,990,236 D325G probably benign Het
Prss12 T C 3: 123,482,739 V339A possibly damaging Het
Ptpn13 T A 5: 103,541,314 L991Q probably null Het
Ptpn3 T A 4: 57,240,833 I261F probably damaging Het
Rab3gap1 T C 1: 127,930,387 probably benign Het
Rasa4 A G 5: 136,101,993 R373G possibly damaging Het
Rmi1 T C 13: 58,409,394 S486P probably damaging Het
Slc25a23 A G 17: 57,047,233 I139T probably benign Het
Sspo T A 6: 48,490,125 S4017T probably benign Het
Tnc T C 4: 64,000,080 Q1198R probably damaging Het
Tnni3k G T 3: 154,939,683 Q522K possibly damaging Het
Trio T A 15: 27,773,007 E713V probably damaging Het
Ugt2b34 C A 5: 86,893,820 V338F probably damaging Het
Usp40 T A 1: 87,962,465 M892L probably benign Het
Usp54 A T 14: 20,586,157 probably benign Het
Vmn2r53 T C 7: 12,600,908 E275G possibly damaging Het
Vmn2r87 A G 10: 130,497,378 M1T probably null Het
Wdr66 A C 5: 123,279,989 probably benign Het
Wdr83os A T 8: 85,081,847 D76V probably damaging Het
Other mutations in Tcaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02415:Tcaf1 APN 6 42686650 missense probably benign 0.00
IGL02504:Tcaf1 APN 6 42679279 missense probably benign 0.05
IGL02960:Tcaf1 APN 6 42686459 missense probably benign
IGL03022:Tcaf1 APN 6 42678126 nonsense probably null
PIT4696001:Tcaf1 UTSW 6 42678539 missense probably benign 0.00
R0103:Tcaf1 UTSW 6 42686390 missense probably benign 0.23
R0103:Tcaf1 UTSW 6 42686390 missense probably benign 0.23
R0586:Tcaf1 UTSW 6 42673539 missense probably damaging 1.00
R0717:Tcaf1 UTSW 6 42678665 missense probably benign 0.01
R0724:Tcaf1 UTSW 6 42675367 missense probably damaging 1.00
R1166:Tcaf1 UTSW 6 42678678 missense probably benign
R1472:Tcaf1 UTSW 6 42686448 missense possibly damaging 0.83
R1538:Tcaf1 UTSW 6 42678989 missense probably damaging 1.00
R1721:Tcaf1 UTSW 6 42675338 missense possibly damaging 0.90
R1776:Tcaf1 UTSW 6 42678455 missense possibly damaging 0.90
R2136:Tcaf1 UTSW 6 42673520 missense probably benign 0.01
R3433:Tcaf1 UTSW 6 42686574 missense probably damaging 0.98
R3951:Tcaf1 UTSW 6 42679059 missense probably benign 0.14
R4472:Tcaf1 UTSW 6 42679314 missense probably benign
R4740:Tcaf1 UTSW 6 42686875 missense probably benign
R4915:Tcaf1 UTSW 6 42675196 missense probably damaging 1.00
R5249:Tcaf1 UTSW 6 42676859 missense probably benign 0.00
R5340:Tcaf1 UTSW 6 42678989 missense probably damaging 1.00
R5458:Tcaf1 UTSW 6 42686542 missense probably benign
R6196:Tcaf1 UTSW 6 42676807 missense probably damaging 1.00
R6772:Tcaf1 UTSW 6 42675276 missense probably damaging 1.00
R7066:Tcaf1 UTSW 6 42679177 missense probably damaging 1.00
R7145:Tcaf1 UTSW 6 42686753 missense probably damaging 1.00
R7204:Tcaf1 UTSW 6 42675039 splice site probably null
R7529:Tcaf1 UTSW 6 42675355 missense probably damaging 1.00
R7554:Tcaf1 UTSW 6 42677454 missense probably benign 0.13
R7813:Tcaf1 UTSW 6 42673429 nonsense probably null
R8191:Tcaf1 UTSW 6 42675256 missense probably damaging 1.00
R8194:Tcaf1 UTSW 6 42675302 missense probably benign 0.06
R8532:Tcaf1 UTSW 6 42678131 missense probably damaging 0.96
R8784:Tcaf1 UTSW 6 42679287 missense probably benign
R8801:Tcaf1 UTSW 6 42686808 missense probably damaging 1.00
R8945:Tcaf1 UTSW 6 42686373 missense probably benign 0.00
R8989:Tcaf1 UTSW 6 42686773 missense probably damaging 1.00
R9076:Tcaf1 UTSW 6 42677438 missense probably benign 0.01
R9260:Tcaf1 UTSW 6 42686620 missense possibly damaging 0.50
R9321:Tcaf1 UTSW 6 42679356 missense probably benign 0.00
RF013:Tcaf1 UTSW 6 42679173 missense probably benign 0.04
Z1177:Tcaf1 UTSW 6 42673477 missense probably benign 0.43
Posted On 2013-06-21