Incidental Mutation 'R0103:Tcaf1'
ID 17643
Institutional Source Beutler Lab
Gene Symbol Tcaf1
Ensembl Gene ENSMUSG00000036667
Gene Name TRPM8 channel-associated factor 1
Synonyms 3321401G04Rik, A230020K05Rik, 2810407D09Rik, Fam115a
MMRRC Submission 038389-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R0103 (G1)
Quality Score
Status Validated
Chromosome 6
Chromosomal Location 42644936-42687022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 42663324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 185 (D185E)
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: D185E

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000046137
Gene: ENSMUSG00000036667
AA Change: D185E

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: D185E

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036379
Gene: ENSMUSG00000036667
AA Change: D185E

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: D185E

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114036
Gene: ENSMUSG00000036667
AA Change: D185E

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
Meta Mutation Damage Score 0.0951 question?
Coding Region Coverage
  • 1x: 89.4%
  • 3x: 86.4%
  • 10x: 77.8%
  • 20x: 63.0%
Validation Efficiency 91% (89/98)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,223,951 (GRCm39) R443S probably damaging Het
Adgrl3 A G 5: 81,940,194 (GRCm39) probably benign Het
Anapc1 T C 2: 128,522,372 (GRCm39) probably benign Het
Aqr T A 2: 113,979,497 (GRCm39) I313F probably damaging Het
Arfgap3 A T 15: 83,206,922 (GRCm39) probably benign Het
Asah2 G T 19: 31,996,377 (GRCm39) H374N probably benign Het
Catspere2 A G 1: 177,943,771 (GRCm39) N703D unknown Het
Ccdc106 C A 7: 5,060,544 (GRCm39) Q35K probably benign Het
Ccm2l G T 2: 152,909,839 (GRCm39) E64* probably null Het
Cep85l A T 10: 53,154,270 (GRCm39) D776E possibly damaging Het
Cfap52 T A 11: 67,815,951 (GRCm39) I611F possibly damaging Het
Cldn22 C T 8: 48,277,589 (GRCm39) T9M probably benign Het
Coa7 T C 4: 108,195,338 (GRCm39) L89P possibly damaging Het
Cox7a2l A T 17: 83,821,701 (GRCm39) Y2N probably damaging Het
Cyp27a1 A C 1: 74,775,074 (GRCm39) E301A probably benign Het
Dennd4c A G 4: 86,730,683 (GRCm39) Y860C probably benign Het
Dhx58 T C 11: 100,586,096 (GRCm39) T642A probably damaging Het
Dlg4 A G 11: 69,922,019 (GRCm39) Y87C probably damaging Het
Dnah6 C T 6: 73,069,155 (GRCm39) E2511K probably damaging Het
Entpd5 C A 12: 84,443,717 (GRCm39) E9* probably null Het
Fbln2 A C 6: 91,248,532 (GRCm39) I1066L probably benign Het
Fhl2 C T 1: 43,192,381 (GRCm39) R4H probably benign Het
Frmpd1 T A 4: 45,229,884 (GRCm39) I17K probably damaging Het
Gbp7 T A 3: 142,252,299 (GRCm39) N627K probably benign Het
Gnptab A G 10: 88,265,381 (GRCm39) Y331C probably damaging Het
Hibadh T A 6: 52,534,862 (GRCm39) M173L probably benign Het
Itga1 T C 13: 115,152,790 (GRCm39) I211V probably benign Het
Keg1 A T 19: 12,696,280 (GRCm39) I155F possibly damaging Het
Ltb A G 17: 35,414,016 (GRCm39) probably benign Het
Manea A T 4: 26,329,080 (GRCm39) probably null Het
Ms4a4a T A 19: 11,370,048 (GRCm39) M202K possibly damaging Het
Myo3a T G 2: 22,436,360 (GRCm39) probably benign Het
Myo9b C T 8: 71,776,493 (GRCm39) probably benign Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Ncor1 G T 11: 62,233,871 (GRCm39) Q444K possibly damaging Het
Nek7 A T 1: 138,471,980 (GRCm39) C53* probably null Het
Obscn G T 11: 58,953,522 (GRCm39) Y4044* probably null Het
Pcsk6 T C 7: 65,578,845 (GRCm39) probably benign Het
Phax T A 18: 56,695,785 (GRCm39) V7D probably benign Het
Phxr4 T C 9: 13,343,087 (GRCm39) probably benign Het
Pkhd1 T A 1: 20,593,583 (GRCm39) D1510V probably benign Het
Pkhd1l1 T C 15: 44,460,537 (GRCm39) C4249R probably benign Het
Prpf39 T C 12: 65,102,057 (GRCm39) V378A possibly damaging Het
Psd2 A G 18: 36,137,770 (GRCm39) N455S probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rab4b A G 7: 26,873,927 (GRCm39) I117T probably benign Het
Rad9b A T 5: 122,469,590 (GRCm39) V348E probably damaging Het
Rcor1 T C 12: 111,076,212 (GRCm39) probably benign Het
Rhoc A T 3: 104,699,307 (GRCm39) E32V possibly damaging Het
Rnf40 T G 7: 127,199,743 (GRCm39) V925G probably damaging Het
Slc25a32 A T 15: 38,963,292 (GRCm39) Y176* probably null Het
Slc7a1 T A 5: 148,289,236 (GRCm39) K4* probably null Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Taar4 A T 10: 23,837,304 (GRCm39) N305Y probably damaging Het
Tmem138 T C 19: 10,552,316 (GRCm39) N62S possibly damaging Het
Tnfrsf25 C T 4: 152,201,405 (GRCm39) P65S possibly damaging Het
Trp53bp1 A T 2: 121,067,240 (GRCm39) S495R possibly damaging Het
Trpv3 T C 11: 73,184,805 (GRCm39) F597S probably damaging Het
Ugt2a3 A G 5: 87,484,577 (GRCm39) V149A possibly damaging Het
Ush2a T G 1: 188,051,267 (GRCm39) I251R possibly damaging Het
Vamp4 T C 1: 162,417,108 (GRCm39) C114R possibly damaging Het
Zc3h13 T A 14: 75,567,908 (GRCm39) V1067E probably damaging Het
Zcwpw1 G A 5: 137,808,375 (GRCm39) W274* probably null Het
Other mutations in Tcaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Tcaf1 APN 6 42,663,556 (GRCm39) missense probably benign
IGL02415:Tcaf1 APN 6 42,663,584 (GRCm39) missense probably benign 0.00
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
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 2013-01-31