Incidental Mutation 'IGL00333:Tcaf2'
ID 6361
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcaf2
Ensembl Gene ENSMUSG00000029851
Gene Name TRPM8 channel-associated factor 2
Synonyms Fam115c
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL00333
Quality Score
Status
Chromosome 6
Chromosomal Location 42599950-42622134 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 42606970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 328 (L328*)
Ref Sequence ENSEMBL: ENSMUSP00000031879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031879]
AlphaFold Q921K8
Predicted Effect probably null
Transcript: ENSMUST00000031879
AA Change: L328*
SMART Domains Protein: ENSMUSP00000031879
Gene: ENSMUSG00000029851
AA Change: L328*

DomainStartEndE-ValueType
low complexity region 515 526 N/A INTRINSIC
M60-like 543 842 4.85e-138 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131341
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atosa T C 9: 74,933,072 (GRCm39) I1006T probably benign Het
Atp8b3 C T 10: 80,366,821 (GRCm39) C259Y probably damaging Het
Bag6 T G 17: 35,363,627 (GRCm39) D770E probably damaging Het
Ccdc8 T A 7: 16,729,967 (GRCm39) D485E unknown Het
Cyp2c54 A C 19: 40,060,522 (GRCm39) V153G probably damaging Het
Haus8 A G 8: 71,708,289 (GRCm39) probably null Het
Hgf A T 5: 16,816,880 (GRCm39) T499S possibly damaging Het
Ifitm1 T A 7: 140,549,537 (GRCm39) *107R probably null Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Klk1b27 T A 7: 43,705,567 (GRCm39) probably null Het
Lpin2 C A 17: 71,550,967 (GRCm39) T709K probably damaging Het
Lrig3 T C 10: 125,849,017 (GRCm39) L945P probably benign Het
Lrrn4 C T 2: 132,712,737 (GRCm39) C362Y probably damaging Het
Map3k20 T C 2: 72,202,320 (GRCm39) S184P probably damaging Het
Nr2f1 A T 13: 78,337,952 (GRCm39) V231E probably damaging Het
Or12d13 A T 17: 37,647,474 (GRCm39) Y216* probably null Het
Orc1 T C 4: 108,452,522 (GRCm39) probably benign Het
Osr1 A C 12: 9,629,432 (GRCm39) I102L probably benign Het
Pcbd1 A T 10: 60,927,949 (GRCm39) Q37L probably benign Het
Pclo C T 5: 14,571,691 (GRCm39) Q359* probably null Het
Rpgrip1 A T 14: 52,387,895 (GRCm39) probably null Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Speer4a2 A G 5: 26,291,491 (GRCm39) M105T possibly damaging Het
Sspo A G 6: 48,447,387 (GRCm39) T2184A probably benign Het
Synpo2 C T 3: 122,906,859 (GRCm39) G819D probably damaging Het
Taar8b A G 10: 23,967,654 (GRCm39) V180A possibly damaging Het
Tbc1d8 T C 1: 39,433,210 (GRCm39) D324G probably damaging Het
Tmem253 T C 14: 52,255,418 (GRCm39) L76P probably damaging Het
Tsc1 G A 2: 28,551,623 (GRCm39) V46I probably damaging Het
Ttn A T 2: 76,779,425 (GRCm39) F1152I probably benign Het
Txnrd2 T C 16: 18,257,101 (GRCm39) V139A probably damaging Het
Ublcp1 T C 11: 44,351,597 (GRCm39) D212G probably damaging Het
Utrn A T 10: 12,547,574 (GRCm39) L1622Q probably damaging Het
Vmn2r103 A G 17: 20,013,364 (GRCm39) T162A probably damaging Het
Other mutations in Tcaf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Tcaf2 APN 6 42,601,510 (GRCm39) missense probably damaging 1.00
IGL01448:Tcaf2 APN 6 42,607,262 (GRCm39) missense probably benign 0.05
IGL01870:Tcaf2 APN 6 42,601,411 (GRCm39) missense possibly damaging 0.47
IGL02133:Tcaf2 APN 6 42,604,330 (GRCm39) missense probably benign 0.06
IGL02208:Tcaf2 APN 6 42,606,020 (GRCm39) missense probably damaging 1.00
IGL02666:Tcaf2 APN 6 42,606,058 (GRCm39) splice site probably benign
jiaozhi UTSW 6 42,603,371 (GRCm39) missense probably damaging 1.00
PIT4260001:Tcaf2 UTSW 6 42,619,739 (GRCm39) missense probably damaging 0.97
PIT4382001:Tcaf2 UTSW 6 42,601,300 (GRCm39) makesense probably null
R0029:Tcaf2 UTSW 6 42,607,093 (GRCm39) nonsense probably null
R0029:Tcaf2 UTSW 6 42,607,093 (GRCm39) nonsense probably null
R0047:Tcaf2 UTSW 6 42,606,547 (GRCm39) missense probably benign
R0047:Tcaf2 UTSW 6 42,606,547 (GRCm39) missense probably benign
R0255:Tcaf2 UTSW 6 42,619,838 (GRCm39) missense possibly damaging 0.95
R0617:Tcaf2 UTSW 6 42,619,445 (GRCm39) missense probably damaging 0.97
R1387:Tcaf2 UTSW 6 42,601,512 (GRCm39) missense probably damaging 1.00
R1523:Tcaf2 UTSW 6 42,601,385 (GRCm39) nonsense probably null
R1529:Tcaf2 UTSW 6 42,606,440 (GRCm39) missense probably benign 0.03
R1698:Tcaf2 UTSW 6 42,604,951 (GRCm39) nonsense probably null
R1992:Tcaf2 UTSW 6 42,606,791 (GRCm39) missense probably benign
R2065:Tcaf2 UTSW 6 42,604,981 (GRCm39) missense probably benign 0.12
R2144:Tcaf2 UTSW 6 42,619,738 (GRCm39) missense probably benign 0.45
R2435:Tcaf2 UTSW 6 42,607,298 (GRCm39) missense possibly damaging 0.72
R2519:Tcaf2 UTSW 6 42,606,365 (GRCm39) missense possibly damaging 0.92
R3979:Tcaf2 UTSW 6 42,619,481 (GRCm39) missense probably damaging 1.00
R4093:Tcaf2 UTSW 6 42,619,772 (GRCm39) missense probably damaging 1.00
R4532:Tcaf2 UTSW 6 42,603,371 (GRCm39) missense probably damaging 1.00
R4780:Tcaf2 UTSW 6 42,604,996 (GRCm39) missense probably damaging 1.00
R4906:Tcaf2 UTSW 6 42,606,679 (GRCm39) missense probably benign 0.02
R4993:Tcaf2 UTSW 6 42,619,574 (GRCm39) missense probably damaging 1.00
R5076:Tcaf2 UTSW 6 42,606,401 (GRCm39) missense probably benign 0.16
R5643:Tcaf2 UTSW 6 42,619,707 (GRCm39) missense possibly damaging 0.85
R5644:Tcaf2 UTSW 6 42,619,707 (GRCm39) missense possibly damaging 0.85
R5975:Tcaf2 UTSW 6 42,619,712 (GRCm39) missense probably benign 0.22
R6234:Tcaf2 UTSW 6 42,607,308 (GRCm39) missense probably benign
R6269:Tcaf2 UTSW 6 42,604,342 (GRCm39) missense probably damaging 1.00
R6276:Tcaf2 UTSW 6 42,606,687 (GRCm39) missense probably benign 0.04
R6375:Tcaf2 UTSW 6 42,603,112 (GRCm39) missense probably damaging 0.99
R6523:Tcaf2 UTSW 6 42,619,953 (GRCm39) missense probably benign 0.01
R6825:Tcaf2 UTSW 6 42,606,452 (GRCm39) missense probably benign 0.05
R7039:Tcaf2 UTSW 6 42,603,074 (GRCm39) missense probably damaging 1.00
R7099:Tcaf2 UTSW 6 42,607,275 (GRCm39) missense probably benign 0.02
R7284:Tcaf2 UTSW 6 42,606,472 (GRCm39) missense probably damaging 1.00
R7822:Tcaf2 UTSW 6 42,606,033 (GRCm39) missense possibly damaging 0.95
R7964:Tcaf2 UTSW 6 42,606,640 (GRCm39) missense probably benign
R8270:Tcaf2 UTSW 6 42,606,958 (GRCm39) missense probably benign 0.30
R8505:Tcaf2 UTSW 6 42,606,475 (GRCm39) missense probably benign 0.18
R8702:Tcaf2 UTSW 6 42,619,701 (GRCm39) missense probably benign 0.11
R8788:Tcaf2 UTSW 6 42,606,472 (GRCm39) missense probably damaging 1.00
R8979:Tcaf2 UTSW 6 42,601,404 (GRCm39) missense probably damaging 1.00
R9374:Tcaf2 UTSW 6 42,619,728 (GRCm39) missense probably benign 0.02
R9379:Tcaf2 UTSW 6 42,619,517 (GRCm39) missense probably benign 0.00
Y4339:Tcaf2 UTSW 6 42,606,406 (GRCm39) missense probably benign
Y4341:Tcaf2 UTSW 6 42,606,406 (GRCm39) missense probably benign
Z1177:Tcaf2 UTSW 6 42,606,550 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20