Incidental Mutation 'R5839:Tcaf3'
ID 449797
Institutional Source Beutler Lab
Gene Symbol Tcaf3
Ensembl Gene ENSMUSG00000018656
Gene Name TRPM8 channel-associated factor 3
Synonyms Eapa2, Fam115e
MMRRC Submission 044059-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R5839 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 42564147-42574306 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42570783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 323 (E323G)
Ref Sequence ENSEMBL: ENSMUSP00000064060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069023] [ENSMUST00000134707]
AlphaFold Q6QR59
Predicted Effect possibly damaging
Transcript: ENSMUST00000069023
AA Change: E323G

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: E323G

DomainStartEndE-ValueType
internal_repeat_1 26 194 9.98e-16 PROSPERO
low complexity region 210 221 N/A INTRINSIC
internal_repeat_1 234 402 9.98e-16 PROSPERO
low complexity region 509 518 N/A INTRINSIC
M60-like 533 832 3.49e-130 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134707
SMART Domains Protein: ENSMUSP00000123321
Gene: ENSMUSG00000018656

DomainStartEndE-ValueType
low complexity region 210 221 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 94% (62/66)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T A 5: 8,186,861 (GRCm39) Y420F probably damaging Het
Adcy8 A G 15: 64,588,031 (GRCm39) Y919H probably damaging Het
Afg2a A G 3: 37,518,803 (GRCm39) D779G probably damaging Het
Ampd1 A T 3: 102,992,744 (GRCm39) N162I possibly damaging Het
Arhgef15 G A 11: 68,844,982 (GRCm39) A205V probably benign Het
Ash1l A G 3: 88,890,658 (GRCm39) K846E probably damaging Het
Azi2 C T 9: 117,888,187 (GRCm39) T250I probably damaging Het
Btbd16 G A 7: 130,417,538 (GRCm39) probably null Het
Ceacam16 T A 7: 19,590,008 (GRCm39) K52* probably null Het
Cfap74 T C 4: 155,507,207 (GRCm39) probably null Het
Cgn A C 3: 94,681,703 (GRCm39) L464R probably damaging Het
Chpt1 T A 10: 88,339,625 (GRCm39) H32L probably damaging Het
Clk1 G A 1: 58,461,074 (GRCm39) T7I probably benign Het
Col6a5 C T 9: 105,822,592 (GRCm39) probably null Het
Cpne4 C A 9: 104,803,027 (GRCm39) R224S probably damaging Het
Cysltr2 T C 14: 73,267,623 (GRCm39) Y29C probably damaging Het
Ddx5 A G 11: 106,673,032 (GRCm39) S498P probably damaging Het
Dgkg A G 16: 22,385,244 (GRCm39) Y382H possibly damaging Het
Efemp1 A G 11: 28,871,418 (GRCm39) E339G possibly damaging Het
Focad T A 4: 88,115,083 (GRCm39) probably benign Het
Gabbr1 G A 17: 37,378,760 (GRCm39) G650D probably damaging Het
Galnt9 A G 5: 110,725,386 (GRCm39) S108G probably benign Het
Igkv8-28 T A 6: 70,121,145 (GRCm39) M1L probably benign Het
Iqca1l T C 5: 24,757,024 (GRCm39) K218E probably damaging Het
Kcnq2 T C 2: 180,751,544 (GRCm39) Y284C probably damaging Het
Macf1 A G 4: 123,275,117 (GRCm39) F6299S probably damaging Het
Magi3 G A 3: 104,127,047 (GRCm39) T79M probably damaging Het
Mdh2 T A 5: 135,812,146 (GRCm39) probably null Het
Mgam A C 6: 40,716,998 (GRCm39) N108T possibly damaging Het
N4bp3 A T 11: 51,536,909 (GRCm39) F55I probably benign Het
Nasp C T 4: 116,459,288 (GRCm39) probably null Het
Ncapg T A 5: 45,829,620 (GRCm39) H107Q probably damaging Het
Ofcc1 T C 13: 40,434,021 (GRCm39) K28R probably damaging Het
Opn1sw C T 6: 29,379,829 (GRCm39) C135Y probably damaging Het
Pigo T C 4: 43,022,104 (GRCm39) M346V probably damaging Het
Pkn2 A T 3: 142,527,290 (GRCm39) D386E probably benign Het
Psd2 G T 18: 36,140,577 (GRCm39) V617L probably damaging Het
Rab39 C T 9: 53,617,387 (GRCm39) R10H probably damaging Het
Slc6a6 T A 6: 91,700,298 (GRCm39) C9S probably damaging Het
Slc8a2 A T 7: 15,868,412 (GRCm39) I215F probably damaging Het
Slitrk5 T C 14: 111,917,030 (GRCm39) V218A probably benign Het
Smchd1 A T 17: 71,701,857 (GRCm39) V1045E probably damaging Het
Smoc1 T C 12: 81,214,359 (GRCm39) I247T probably damaging Het
Snapc4 G C 2: 26,255,546 (GRCm39) Q993E probably benign Het
Spidr A T 16: 15,855,366 (GRCm39) I383N probably damaging Het
Stab2 A G 10: 86,708,555 (GRCm39) V219A probably damaging Het
Tas2r103 T C 6: 133,013,779 (GRCm39) T96A probably benign Het
Tecta T C 9: 42,284,272 (GRCm39) T938A possibly damaging Het
Tecta C T 9: 42,242,319 (GRCm39) D2085N probably benign Het
Tekt2 T A 4: 126,216,629 (GRCm39) E328V probably damaging Het
Tgfb1i1 A G 7: 127,852,537 (GRCm39) *462W probably null Het
Tnip2 T C 5: 34,653,976 (GRCm39) probably benign Het
Tpd52l2 G A 2: 181,141,691 (GRCm39) V25I probably benign Het
Traj15 T A 14: 54,441,926 (GRCm39) probably benign Het
Trpm8 A T 1: 88,253,228 (GRCm39) I106F possibly damaging Het
Ttc22 T C 4: 106,495,717 (GRCm39) L357P probably damaging Het
Ttn T C 2: 76,739,772 (GRCm39) H3589R probably benign Het
Vmn1r28 T A 6: 58,242,280 (GRCm39) I41N possibly damaging Het
Wasf1 T A 10: 40,812,315 (GRCm39) V368E unknown Het
Zeb1 A G 18: 5,767,507 (GRCm39) M673V probably benign Het
Zfp799 T C 17: 33,041,086 (GRCm39) D31G probably null Het
Other mutations in Tcaf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Tcaf3 APN 6 42,570,319 (GRCm39) missense probably benign 0.14
IGL00931:Tcaf3 APN 6 42,574,162 (GRCm39) missense probably benign 0.16
IGL01391:Tcaf3 APN 6 42,570,615 (GRCm39) missense probably damaging 1.00
IGL01804:Tcaf3 APN 6 42,574,063 (GRCm39) missense probably damaging 1.00
IGL02272:Tcaf3 APN 6 42,573,594 (GRCm39) missense probably damaging 0.98
IGL02934:Tcaf3 APN 6 42,570,832 (GRCm39) missense probably benign 0.00
IGL03258:Tcaf3 APN 6 42,566,773 (GRCm39) missense probably damaging 1.00
defused UTSW 6 42,573,867 (GRCm39) missense probably benign 0.03
R0116:Tcaf3 UTSW 6 42,568,284 (GRCm39) missense probably benign 0.12
R0135:Tcaf3 UTSW 6 42,566,692 (GRCm39) missense probably benign
R0357:Tcaf3 UTSW 6 42,566,761 (GRCm39) missense probably damaging 0.98
R0526:Tcaf3 UTSW 6 42,566,738 (GRCm39) missense probably damaging 1.00
R0592:Tcaf3 UTSW 6 42,573,777 (GRCm39) missense probably benign 0.16
R1185:Tcaf3 UTSW 6 42,568,368 (GRCm39) missense probably damaging 1.00
R1185:Tcaf3 UTSW 6 42,568,368 (GRCm39) missense probably damaging 1.00
R1185:Tcaf3 UTSW 6 42,568,368 (GRCm39) missense probably damaging 1.00
R1902:Tcaf3 UTSW 6 42,570,486 (GRCm39) missense possibly damaging 0.83
R1912:Tcaf3 UTSW 6 42,573,622 (GRCm39) missense possibly damaging 0.59
R2020:Tcaf3 UTSW 6 42,570,658 (GRCm39) missense possibly damaging 0.66
R2238:Tcaf3 UTSW 6 42,570,262 (GRCm39) missense probably benign 0.00
R2259:Tcaf3 UTSW 6 42,568,364 (GRCm39) missense possibly damaging 0.53
R2436:Tcaf3 UTSW 6 42,570,663 (GRCm39) missense probably damaging 1.00
R3005:Tcaf3 UTSW 6 42,570,978 (GRCm39) missense probably damaging 1.00
R3402:Tcaf3 UTSW 6 42,570,787 (GRCm39) missense probably benign 0.08
R3753:Tcaf3 UTSW 6 42,566,738 (GRCm39) missense probably damaging 1.00
R3799:Tcaf3 UTSW 6 42,574,014 (GRCm39) missense probably damaging 1.00
R4515:Tcaf3 UTSW 6 42,566,930 (GRCm39) missense probably damaging 1.00
R4640:Tcaf3 UTSW 6 42,564,513 (GRCm39) missense probably damaging 0.96
R4688:Tcaf3 UTSW 6 42,570,300 (GRCm39) splice site probably null
R4904:Tcaf3 UTSW 6 42,570,931 (GRCm39) nonsense probably null
R5030:Tcaf3 UTSW 6 42,573,867 (GRCm39) missense probably benign 0.03
R5031:Tcaf3 UTSW 6 42,573,867 (GRCm39) missense probably benign 0.03
R5045:Tcaf3 UTSW 6 42,570,618 (GRCm39) missense possibly damaging 0.55
R5105:Tcaf3 UTSW 6 42,568,259 (GRCm39) missense probably damaging 1.00
R5139:Tcaf3 UTSW 6 42,573,867 (GRCm39) missense probably benign 0.03
R5187:Tcaf3 UTSW 6 42,573,954 (GRCm39) missense possibly damaging 0.51
R5196:Tcaf3 UTSW 6 42,570,649 (GRCm39) missense probably benign 0.00
R5213:Tcaf3 UTSW 6 42,568,401 (GRCm39) missense probably damaging 1.00
R5296:Tcaf3 UTSW 6 42,564,444 (GRCm39) missense possibly damaging 0.55
R5402:Tcaf3 UTSW 6 42,568,860 (GRCm39) missense probably benign 0.12
R5425:Tcaf3 UTSW 6 42,573,697 (GRCm39) missense probably damaging 1.00
R5431:Tcaf3 UTSW 6 42,574,119 (GRCm39) missense probably damaging 1.00
R5601:Tcaf3 UTSW 6 42,564,462 (GRCm39) missense possibly damaging 0.90
R5865:Tcaf3 UTSW 6 42,573,631 (GRCm39) missense probably benign 0.07
R6005:Tcaf3 UTSW 6 42,566,905 (GRCm39) missense probably benign 0.19
R6270:Tcaf3 UTSW 6 42,570,725 (GRCm39) missense probably benign 0.00
R6341:Tcaf3 UTSW 6 42,574,193 (GRCm39) missense possibly damaging 0.55
R6344:Tcaf3 UTSW 6 42,574,105 (GRCm39) missense possibly damaging 0.48
R6521:Tcaf3 UTSW 6 42,570,172 (GRCm39) missense probably damaging 0.99
R6589:Tcaf3 UTSW 6 42,570,995 (GRCm39) missense possibly damaging 0.55
R6981:Tcaf3 UTSW 6 42,574,059 (GRCm39) missense probably damaging 1.00
R7155:Tcaf3 UTSW 6 42,570,825 (GRCm39) missense probably benign
R7185:Tcaf3 UTSW 6 42,570,864 (GRCm39) missense probably benign 0.01
R7262:Tcaf3 UTSW 6 42,570,735 (GRCm39) missense probably damaging 0.97
R7340:Tcaf3 UTSW 6 42,566,848 (GRCm39) missense probably benign 0.08
R7421:Tcaf3 UTSW 6 42,573,776 (GRCm39) missense probably benign 0.02
R7690:Tcaf3 UTSW 6 42,574,069 (GRCm39) missense probably damaging 1.00
R7850:Tcaf3 UTSW 6 42,571,140 (GRCm39) splice site probably null
R7909:Tcaf3 UTSW 6 42,568,898 (GRCm39) missense possibly damaging 0.92
R9419:Tcaf3 UTSW 6 42,573,716 (GRCm39) missense probably benign 0.00
R9440:Tcaf3 UTSW 6 42,573,906 (GRCm39) nonsense probably null
R9469:Tcaf3 UTSW 6 42,573,828 (GRCm39) missense probably benign 0.00
R9668:Tcaf3 UTSW 6 42,566,636 (GRCm39) missense probably damaging 1.00
R9787:Tcaf3 UTSW 6 42,574,024 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATGGCTAGTGATACCAAGGC -3'
(R):5'- AATTGCTTTCTTGCAGCTGC -3'

Sequencing Primer
(F):5'- CCAAAGCGCTTAAGGACGATGTTATC -3'
(R):5'- CGCTATGGCCGTGGTCG -3'
Posted On 2016-12-20