Incidental Mutation 'IGL02415:Tcaf1'
ID 292392
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcaf1
Ensembl Gene ENSMUSG00000036667
Gene Name TRPM8 channel-associated factor 1
Synonyms 3321401G04Rik, A230020K05Rik, 2810407D09Rik, Fam115a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL02415
Quality Score
Status
Chromosome 6
Chromosomal Location 42644936-42687022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 42663584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 99 (A99T)
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: A99T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000046137
Gene: ENSMUSG00000036667
AA Change: A99T

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: A99T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000036379
Gene: ENSMUSG00000036667
AA Change: A99T

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: A99T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000114036
Gene: ENSMUSG00000036667
AA Change: A99T

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,777,056 (GRCm39) D124G probably benign Het
Adamts13 T A 2: 26,879,295 (GRCm39) I616N possibly damaging Het
Adamts3 T C 5: 89,854,506 (GRCm39) probably null Het
Amy1 T C 3: 113,357,234 (GRCm39) I202V probably benign Het
Bdp1 G A 13: 100,225,916 (GRCm39) T322I probably damaging Het
Cep295 A G 9: 15,264,316 (GRCm39) L110S probably damaging Het
Cep72 T C 13: 74,198,273 (GRCm39) D369G probably benign Het
Chd3 A T 11: 69,239,739 (GRCm39) probably benign Het
Ckmt2 G A 13: 92,011,459 (GRCm39) probably benign Het
Cyp2s1 T C 7: 25,507,562 (GRCm39) T296A probably damaging Het
E2f5 T A 3: 14,668,957 (GRCm39) V283E probably benign Het
Eeig2 A G 3: 108,887,608 (GRCm39) Y219H probably damaging Het
F5 A G 1: 164,019,498 (GRCm39) T658A probably damaging Het
Gml A T 15: 74,688,289 (GRCm39) Y59* probably null Het
Kmo A T 1: 175,476,889 (GRCm39) probably benign Het
Krt25 A T 11: 99,213,398 (GRCm39) I107N probably damaging Het
Llgl2 A G 11: 115,744,111 (GRCm39) M773V probably damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Med12 T C X: 100,325,396 (GRCm39) V761A probably damaging Het
Mrpl19 T C 6: 81,940,942 (GRCm39) T150A probably benign Het
Muc2 G T 7: 141,305,609 (GRCm39) E646* probably null Het
Muc20 T A 16: 32,615,051 (GRCm39) T109S unknown Het
Nr2f6 T C 8: 71,827,156 (GRCm39) T382A probably benign Het
Nrap A G 19: 56,370,741 (GRCm39) I172T probably damaging Het
Or5an1 A G 19: 12,260,862 (GRCm39) Y150C probably benign Het
Or8b47 T C 9: 38,435,408 (GRCm39) C127R probably benign Het
P3h1 A T 4: 119,105,152 (GRCm39) Q710L probably benign Het
Parvb A G 15: 84,177,016 (GRCm39) H185R probably damaging Het
Pkhd1 A G 1: 20,484,645 (GRCm39) I1970T probably damaging Het
Pkhd1 T C 1: 20,592,983 (GRCm39) Y1710C probably damaging Het
Plxna2 C A 1: 194,326,272 (GRCm39) R69S probably damaging Het
Rad51ap2 A G 12: 11,506,930 (GRCm39) N284S possibly damaging Het
Reln T A 5: 22,176,949 (GRCm39) S1906C possibly damaging Het
Rln1 T C 19: 29,311,798 (GRCm39) R67G probably damaging Het
Shcbp1 C T 8: 4,804,239 (GRCm39) V224I possibly damaging Het
Slc13a4 A G 6: 35,260,172 (GRCm39) probably null Het
Stx6 A G 1: 155,069,059 (GRCm39) E195G possibly damaging Het
Sult2b1 G T 7: 45,391,509 (GRCm39) D90E possibly damaging Het
Taok1 A G 11: 77,431,066 (GRCm39) probably benign Het
Tbx15 A T 3: 99,259,826 (GRCm39) M566L probably benign Het
Tcf20 T A 15: 82,737,660 (GRCm39) M1264L probably benign Het
Tenm4 G A 7: 96,523,281 (GRCm39) V1571M probably damaging Het
Ttc39a A G 4: 109,288,726 (GRCm39) probably benign Het
Ubr1 C A 2: 120,801,084 (GRCm39) probably benign Het
Ulk1 T C 5: 110,935,487 (GRCm39) D926G probably damaging Het
Vmn2r110 T C 17: 20,804,033 (GRCm39) I181V probably benign Het
Vmn2r66 G A 7: 84,656,020 (GRCm39) T332I probably damaging Het
Wdr1 C A 5: 38,688,453 (GRCm39) D161Y probably damaging Het
Wnt7a T C 6: 91,371,539 (GRCm39) Y141C probably damaging Het
Xrra1 G A 7: 99,565,150 (GRCm39) E573K probably benign Het
Zfp334 G T 2: 165,223,771 (GRCm39) Q91K possibly damaging Het
Other mutations in Tcaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Tcaf1 APN 6 42,663,556 (GRCm39) missense probably benign
IGL02504:Tcaf1 APN 6 42,656,213 (GRCm39) missense probably benign 0.05
IGL02960:Tcaf1 APN 6 42,663,393 (GRCm39) missense probably benign
IGL03022:Tcaf1 APN 6 42,655,060 (GRCm39) nonsense probably null
PIT4696001:Tcaf1 UTSW 6 42,655,473 (GRCm39) missense probably benign 0.00
R0103:Tcaf1 UTSW 6 42,663,324 (GRCm39) missense probably benign 0.23
R0103:Tcaf1 UTSW 6 42,663,324 (GRCm39) missense probably benign 0.23
R0586:Tcaf1 UTSW 6 42,650,473 (GRCm39) missense probably damaging 1.00
R0717:Tcaf1 UTSW 6 42,655,599 (GRCm39) missense probably benign 0.01
R0724:Tcaf1 UTSW 6 42,652,301 (GRCm39) missense probably damaging 1.00
R1166:Tcaf1 UTSW 6 42,655,612 (GRCm39) missense probably benign
R1472:Tcaf1 UTSW 6 42,663,382 (GRCm39) missense possibly damaging 0.83
R1538:Tcaf1 UTSW 6 42,655,923 (GRCm39) missense probably damaging 1.00
R1721:Tcaf1 UTSW 6 42,652,272 (GRCm39) missense possibly damaging 0.90
R1776:Tcaf1 UTSW 6 42,655,389 (GRCm39) missense possibly damaging 0.90
R2136:Tcaf1 UTSW 6 42,650,454 (GRCm39) missense probably benign 0.01
R3433:Tcaf1 UTSW 6 42,663,508 (GRCm39) missense probably damaging 0.98
R3951:Tcaf1 UTSW 6 42,655,993 (GRCm39) missense probably benign 0.14
R4472:Tcaf1 UTSW 6 42,656,248 (GRCm39) missense probably benign
R4740:Tcaf1 UTSW 6 42,663,809 (GRCm39) missense probably benign
R4915:Tcaf1 UTSW 6 42,652,130 (GRCm39) missense probably damaging 1.00
R5249:Tcaf1 UTSW 6 42,653,793 (GRCm39) missense probably benign 0.00
R5340:Tcaf1 UTSW 6 42,655,923 (GRCm39) missense probably damaging 1.00
R5458:Tcaf1 UTSW 6 42,663,476 (GRCm39) missense probably benign
R6196:Tcaf1 UTSW 6 42,653,741 (GRCm39) missense probably damaging 1.00
R6772:Tcaf1 UTSW 6 42,652,210 (GRCm39) missense probably damaging 1.00
R7066:Tcaf1 UTSW 6 42,656,111 (GRCm39) missense probably damaging 1.00
R7145:Tcaf1 UTSW 6 42,663,687 (GRCm39) missense probably damaging 1.00
R7204:Tcaf1 UTSW 6 42,651,973 (GRCm39) splice site probably null
R7529:Tcaf1 UTSW 6 42,652,289 (GRCm39) missense probably damaging 1.00
R7554:Tcaf1 UTSW 6 42,654,388 (GRCm39) missense probably benign 0.13
R7813:Tcaf1 UTSW 6 42,650,363 (GRCm39) nonsense probably null
R8191:Tcaf1 UTSW 6 42,652,190 (GRCm39) missense probably damaging 1.00
R8194:Tcaf1 UTSW 6 42,652,236 (GRCm39) missense probably benign 0.06
R8532:Tcaf1 UTSW 6 42,655,065 (GRCm39) missense probably damaging 0.96
R8784:Tcaf1 UTSW 6 42,656,221 (GRCm39) missense probably benign
R8801:Tcaf1 UTSW 6 42,663,742 (GRCm39) missense probably damaging 1.00
R8945:Tcaf1 UTSW 6 42,663,307 (GRCm39) missense probably benign 0.00
R8989:Tcaf1 UTSW 6 42,663,707 (GRCm39) missense probably damaging 1.00
R9076:Tcaf1 UTSW 6 42,654,372 (GRCm39) missense probably benign 0.01
R9260:Tcaf1 UTSW 6 42,663,554 (GRCm39) missense possibly damaging 0.50
R9321:Tcaf1 UTSW 6 42,656,290 (GRCm39) missense probably benign 0.00
R9539:Tcaf1 UTSW 6 42,655,683 (GRCm39) missense probably benign 0.16
R9673:Tcaf1 UTSW 6 42,663,808 (GRCm39) missense probably benign
RF013:Tcaf1 UTSW 6 42,656,107 (GRCm39) missense probably benign 0.04
Z1177:Tcaf1 UTSW 6 42,650,411 (GRCm39) missense probably benign 0.43
Posted On 2015-04-16