Incidental Mutation 'R9787:Tcaf3'
ID 734396
Institutional Source Beutler Lab
Gene Symbol Tcaf3
Ensembl Gene ENSMUSG00000018656
Gene Name TRPM8 channel-associated factor 3
Synonyms Eapa2, Fam115e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock # R9787 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 42584866-42597692 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 42597090 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 63 (V63I)
Ref Sequence ENSEMBL: ENSMUSP00000064060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069023] [ENSMUST00000134707]
AlphaFold Q6QR59
Predicted Effect probably benign
Transcript: ENSMUST00000069023
AA Change: V63I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: V63I

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
AA Change: V63I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000123321
Gene: ENSMUSG00000018656
AA Change: V63I

DomainStartEndE-ValueType
low complexity region 210 221 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,501,271 T26A probably benign Het
Arhgap27 A G 11: 103,339,222 S239P possibly damaging Het
Bambi T C 18: 3,511,515 V112A possibly damaging Het
BC034090 T A 1: 155,242,209 E54D possibly damaging Het
BC052040 T A 2: 115,674,755 L169Q probably damaging Het
Chst13 C T 6: 90,309,092 R296H probably benign Het
Clip2 C T 5: 134,504,762 R487Q probably benign Het
Ctbs T A 3: 146,454,354 V46E probably damaging Het
Cyp2b9 A G 7: 26,200,834 I356V probably benign Het
Dot1l A G 10: 80,764,638 T40A probably benign Het
Dst C T 1: 34,180,443 T1988M probably benign Het
Fam184a T A 10: 53,750,768 D38V possibly damaging Het
Fank1 T A 7: 133,862,158 F83I probably damaging Het
Fto T A 8: 91,485,258 W404R probably damaging Het
Gabra4 T A 5: 71,633,661 R279S possibly damaging Het
Garem2 C T 5: 30,114,221 P227L probably damaging Het
Gfra4 C A 2: 131,042,680 M1I probably null Het
Gin1 T A 1: 97,775,486 H11Q probably damaging Het
Gli3 G A 13: 15,725,801 G1258R probably damaging Het
Gsx1 T C 5: 147,189,867 S167P probably damaging Het
Gtf2b AATCATC AATC 3: 142,771,417 probably benign Het
Il7 G A 3: 7,576,111 R82C probably damaging Het
Lair1 A T 7: 4,010,795 V151E probably damaging Het
Lpar1 T C 4: 58,437,349 D360G probably benign Het
Malrd1 T A 2: 15,620,590 N345K unknown Het
Mbnl1 T A 3: 60,595,665 N82K probably damaging Het
Mtdh C A 15: 34,123,698 T357N probably benign Het
Muc6 T A 7: 141,641,481 K1306* probably null Het
Nsd1 T A 13: 55,313,705 C2685S probably benign Het
Olfr2 A T 7: 107,001,692 L56H probably damaging Het
Optn T A 2: 5,031,339 Q444L probably damaging Het
Pan2 T A 10: 128,308,354 D157E probably benign Het
Pole G A 5: 110,318,000 probably null Het
Stau2 A T 1: 16,460,371 I108N unknown Het
Sugp2 A G 8: 70,242,778 K134E probably benign Het
Tcf7 T A 11: 52,282,946 probably benign Het
Ttn C T 2: 76,885,013 E7912K unknown Het
Tubb2b T C 13: 34,128,426 D128G probably benign Het
Umodl1 A T 17: 30,959,350 Q100L probably damaging Het
Unc79 T A 12: 103,146,361 N2230K probably benign Het
Zc3hav1l T C 6: 38,295,166 T223A probably benign Het
Zfhx4 G A 3: 5,390,446 D1167N possibly damaging Het
Zfp36 A T 7: 28,377,919 L200Q probably damaging Het
Zswim9 T A 7: 13,260,278 L650F probably damaging Het
Other mutations in Tcaf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Tcaf3 APN 6 42593385 missense probably benign 0.14
IGL00931:Tcaf3 APN 6 42597228 missense probably benign 0.16
IGL01391:Tcaf3 APN 6 42593681 missense probably damaging 1.00
IGL01804:Tcaf3 APN 6 42597129 missense probably damaging 1.00
IGL02272:Tcaf3 APN 6 42596660 missense probably damaging 0.98
IGL02934:Tcaf3 APN 6 42593898 missense probably benign 0.00
IGL03258:Tcaf3 APN 6 42589839 missense probably damaging 1.00
defused UTSW 6 42596933 missense probably benign 0.03
R0116:Tcaf3 UTSW 6 42591350 missense probably benign 0.12
R0135:Tcaf3 UTSW 6 42589758 missense probably benign
R0357:Tcaf3 UTSW 6 42589827 missense probably damaging 0.98
R0526:Tcaf3 UTSW 6 42589804 missense probably damaging 1.00
R0592:Tcaf3 UTSW 6 42596843 missense probably benign 0.16
R1185:Tcaf3 UTSW 6 42591434 missense probably damaging 1.00
R1185:Tcaf3 UTSW 6 42591434 missense probably damaging 1.00
R1185:Tcaf3 UTSW 6 42591434 missense probably damaging 1.00
R1902:Tcaf3 UTSW 6 42593552 missense possibly damaging 0.83
R1912:Tcaf3 UTSW 6 42596688 missense possibly damaging 0.59
R2020:Tcaf3 UTSW 6 42593724 missense possibly damaging 0.66
R2238:Tcaf3 UTSW 6 42593328 missense probably benign 0.00
R2259:Tcaf3 UTSW 6 42591430 missense possibly damaging 0.53
R2436:Tcaf3 UTSW 6 42593729 missense probably damaging 1.00
R3005:Tcaf3 UTSW 6 42594044 missense probably damaging 1.00
R3402:Tcaf3 UTSW 6 42593853 missense probably benign 0.08
R3753:Tcaf3 UTSW 6 42589804 missense probably damaging 1.00
R3799:Tcaf3 UTSW 6 42597080 missense probably damaging 1.00
R4515:Tcaf3 UTSW 6 42589996 missense probably damaging 1.00
R4640:Tcaf3 UTSW 6 42587579 missense probably damaging 0.96
R4688:Tcaf3 UTSW 6 42593366 splice site probably null
R4904:Tcaf3 UTSW 6 42593997 nonsense probably null
R5030:Tcaf3 UTSW 6 42596933 missense probably benign 0.03
R5031:Tcaf3 UTSW 6 42596933 missense probably benign 0.03
R5045:Tcaf3 UTSW 6 42593684 missense possibly damaging 0.55
R5105:Tcaf3 UTSW 6 42591325 missense probably damaging 1.00
R5139:Tcaf3 UTSW 6 42596933 missense probably benign 0.03
R5187:Tcaf3 UTSW 6 42597020 missense possibly damaging 0.51
R5196:Tcaf3 UTSW 6 42593715 missense probably benign 0.00
R5213:Tcaf3 UTSW 6 42591467 missense probably damaging 1.00
R5296:Tcaf3 UTSW 6 42587510 missense possibly damaging 0.55
R5402:Tcaf3 UTSW 6 42591926 missense probably benign 0.12
R5425:Tcaf3 UTSW 6 42596763 missense probably damaging 1.00
R5431:Tcaf3 UTSW 6 42597185 missense probably damaging 1.00
R5601:Tcaf3 UTSW 6 42587528 missense possibly damaging 0.90
R5839:Tcaf3 UTSW 6 42593849 missense possibly damaging 0.55
R5865:Tcaf3 UTSW 6 42596697 missense probably benign 0.07
R6005:Tcaf3 UTSW 6 42589971 missense probably benign 0.19
R6270:Tcaf3 UTSW 6 42593791 missense probably benign 0.00
R6341:Tcaf3 UTSW 6 42597259 missense possibly damaging 0.55
R6344:Tcaf3 UTSW 6 42597171 missense possibly damaging 0.48
R6521:Tcaf3 UTSW 6 42593238 missense probably damaging 0.99
R6589:Tcaf3 UTSW 6 42594061 missense possibly damaging 0.55
R6981:Tcaf3 UTSW 6 42597125 missense probably damaging 1.00
R7155:Tcaf3 UTSW 6 42593891 missense probably benign
R7185:Tcaf3 UTSW 6 42593930 missense probably benign 0.01
R7262:Tcaf3 UTSW 6 42593801 missense probably damaging 0.97
R7340:Tcaf3 UTSW 6 42589914 missense probably benign 0.08
R7421:Tcaf3 UTSW 6 42596842 missense probably benign 0.02
R7690:Tcaf3 UTSW 6 42597135 missense probably damaging 1.00
R7850:Tcaf3 UTSW 6 42594206 splice site probably null
R7909:Tcaf3 UTSW 6 42591964 missense possibly damaging 0.92
R9419:Tcaf3 UTSW 6 42596782 missense probably benign 0.00
R9440:Tcaf3 UTSW 6 42596972 nonsense probably null
R9469:Tcaf3 UTSW 6 42596894 missense probably benign 0.00
R9668:Tcaf3 UTSW 6 42589702 missense probably damaging 1.00
Predicted Primers
Posted On 2022-11-14