Incidental Mutation 'R5458:Tcaf1'
ID 432872
Institutional Source Beutler Lab
Gene Symbol Tcaf1
Ensembl Gene ENSMUSG00000036667
Gene Name TRPM8 channel-associated factor 1
Synonyms 3321401G04Rik, A230020K05Rik, 2810407D09Rik, Fam115a
MMRRC Submission 043021-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R5458 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 42644936-42687022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42663476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 135 (T135A)
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: T135A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046137
Gene: ENSMUSG00000036667
AA Change: T135A

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: T135A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036379
Gene: ENSMUSG00000036667
AA Change: T135A

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: T135A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114036
Gene: ENSMUSG00000036667
AA Change: T135A

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 0.0597 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp A G 6: 125,027,013 (GRCm39) probably benign Het
Acsl5 A G 19: 55,282,662 (GRCm39) D589G probably damaging Het
Akap13 T A 7: 75,236,049 (GRCm39) L208Q probably damaging Het
Ankfn1 C T 11: 89,325,636 (GRCm39) R512K probably benign Het
Ankhd1 T C 18: 36,781,538 (GRCm39) S2197P probably benign Het
Ankrd27 A G 7: 35,291,236 (GRCm39) N11D probably damaging Het
Aspg T C 12: 112,086,436 (GRCm39) V230A probably damaging Het
Atp2c1 A T 9: 105,291,924 (GRCm39) Y709* probably null Het
Atp8b2 T C 3: 89,853,329 (GRCm39) N748D probably benign Het
B4galnt3 A G 6: 120,187,346 (GRCm39) V684A probably damaging Het
Bco2 T C 9: 50,456,644 (GRCm39) probably null Het
Bcr T C 10: 74,990,792 (GRCm39) V766A probably benign Het
Brca1 T C 11: 101,408,111 (GRCm39) N1404S possibly damaging Het
Cfap251 A G 5: 123,392,508 (GRCm39) probably benign Het
Chd1 A G 17: 15,958,811 (GRCm39) D621G probably damaging Het
Chek1 A G 9: 36,625,725 (GRCm39) S307P probably benign Het
Dhx29 T C 13: 113,103,155 (GRCm39) M1345T probably benign Het
Dnah6 T A 6: 73,063,168 (GRCm39) T2697S probably damaging Het
Ephb4 T C 5: 137,368,114 (GRCm39) V753A probably damaging Het
Fat1 T C 8: 45,466,090 (GRCm39) Y1427H probably damaging Het
Fggy A G 4: 95,814,980 (GRCm39) Q445R probably benign Het
Fv1 A G 4: 147,954,726 (GRCm39) S431G probably benign Het
Gm5965 A T 16: 88,575,395 (GRCm39) R189S probably benign Het
Gnas A G 2: 174,140,124 (GRCm39) I98V probably benign Het
Ino80 T C 2: 119,242,910 (GRCm39) N1086D possibly damaging Het
Lclat1 T C 17: 73,546,914 (GRCm39) L277P probably damaging Het
Lipc T C 9: 70,759,864 (GRCm39) probably benign Het
Myo3a T C 2: 22,250,361 (GRCm39) I76T probably damaging Het
Nkpd1 C A 7: 19,258,201 (GRCm39) A510E probably damaging Het
Nlgn2 G T 11: 69,718,726 (GRCm39) Q285K possibly damaging Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Pax5 T C 4: 44,679,526 (GRCm39) D172G probably damaging Het
Pcdh15 T A 10: 74,340,611 (GRCm39) V1115D probably damaging Het
Pdzd7 T C 19: 45,016,230 (GRCm39) S964G probably benign Het
Phip G T 9: 82,808,553 (GRCm39) P474Q probably benign Het
Pop5 C T 5: 115,378,496 (GRCm39) probably benign Het
Ppfibp1 A T 6: 146,913,933 (GRCm39) probably benign Het
Rdh11 C T 12: 79,235,279 (GRCm39) A106T probably benign Het
Rin3 A G 12: 102,339,975 (GRCm39) T642A probably damaging Het
Scmh1 C T 4: 120,362,478 (GRCm39) probably benign Het
Skint2 A G 4: 112,481,377 (GRCm39) H80R possibly damaging Het
Spata16 A T 3: 26,831,686 (GRCm39) N265I probably damaging Het
Srpk1 T C 17: 28,818,446 (GRCm39) probably null Het
Trappc12 A G 12: 28,796,389 (GRCm39) V381A probably damaging Het
Trim33 T A 3: 103,237,496 (GRCm39) I184K possibly damaging Het
Unc13a C T 8: 72,116,889 (GRCm39) V62M probably damaging Het
Vrk2 A G 11: 26,448,919 (GRCm39) V225A probably damaging Het
Wdr95 C T 5: 149,487,879 (GRCm39) P171L probably damaging Het
Wsb1 T C 11: 79,139,262 (GRCm39) T75A probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- ATCTTAGGCATCTTCTTGGAGAC -3'
(R):5'- TGGAAAGCCAGCTCTTTGTC -3'

Sequencing Primer
(F):5'- GGCATCTTCTTGGAGACTTTAAAG -3'
(R):5'- GGAAAGCCAGCTCTTTGTCTTTCTTG -3'
Posted On 2016-10-06