Incidental Mutation 'IGL00845:Tcp11l2'
ID 14412
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcp11l2
Ensembl Gene ENSMUSG00000020034
Gene Name t-complex 11 (mouse) like 2
Synonyms E430026E19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL00845
Quality Score
Status
Chromosome 10
Chromosomal Location 84576626-84614359 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84604983 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 351 (V351A)
Ref Sequence ENSEMBL: ENSMUSP00000020223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020223]
AlphaFold Q8K1H7
Predicted Effect possibly damaging
Transcript: ENSMUST00000020223
AA Change: V351A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020223
Gene: ENSMUSG00000020034
AA Change: V351A

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
low complexity region 36 55 N/A INTRINSIC
Pfam:Tcp11 77 497 5.8e-103 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160057
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,223,951 probably benign Het
Dnah8 T A 17: 30,819,276 probably null Het
Hmcn1 G A 1: 150,605,006 S4473F probably damaging Het
Mcf2 T A X: 60,127,086 D429V probably damaging Het
Myo15 A G 11: 60,477,779 D455G probably damaging Het
Myom1 T C 17: 71,084,429 Y978H probably damaging Het
Naglu A G 11: 101,076,952 E576G possibly damaging Het
Rbm20 T C 19: 53,817,949 Y487H probably damaging Het
Slc12a1 T A 2: 125,188,238 C577S probably damaging Het
Slc34a2 T C 5: 53,058,354 probably benign Het
Sulf1 C T 1: 12,796,967 T125I probably damaging Het
Tbc1d21 C T 9: 58,362,462 V198I possibly damaging Het
Tdrd6 T C 17: 43,626,716 D1147G probably benign Het
Tmem185a A T X: 70,462,317 probably null Het
Vps50 C T 6: 3,532,177 Q227* probably null Het
Zfp599 T A 9: 22,251,518 probably benign Het
Zmym4 A G 4: 126,900,613 V908A probably benign Het
Other mutations in Tcp11l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00725:Tcp11l2 APN 10 84594710 missense possibly damaging 0.82
IGL02375:Tcp11l2 APN 10 84605068 critical splice donor site probably null
IGL02418:Tcp11l2 APN 10 84613606 nonsense probably null
IGL03325:Tcp11l2 APN 10 84604900 missense possibly damaging 0.76
R0031:Tcp11l2 UTSW 10 84591140 missense probably damaging 0.98
R0591:Tcp11l2 UTSW 10 84604594 missense probably benign 0.05
R1563:Tcp11l2 UTSW 10 84584944 missense probably damaging 0.96
R1607:Tcp11l2 UTSW 10 84613487 missense probably damaging 1.00
R1840:Tcp11l2 UTSW 10 84604599 missense probably damaging 0.98
R2144:Tcp11l2 UTSW 10 84613499 missense probably damaging 1.00
R2251:Tcp11l2 UTSW 10 84605069 critical splice donor site probably null
R4289:Tcp11l2 UTSW 10 84605073 splice site probably null
R4639:Tcp11l2 UTSW 10 84584936 missense probably damaging 1.00
R4844:Tcp11l2 UTSW 10 84613691 missense probably benign 0.00
R4973:Tcp11l2 UTSW 10 84591163 missense probably damaging 0.98
R5264:Tcp11l2 UTSW 10 84613660 missense probably damaging 1.00
R5970:Tcp11l2 UTSW 10 84594797 splice site probably benign
R6966:Tcp11l2 UTSW 10 84591269 missense possibly damaging 0.79
R7250:Tcp11l2 UTSW 10 84587241 critical splice donor site probably null
R7535:Tcp11l2 UTSW 10 84594659 missense possibly damaging 0.67
R7565:Tcp11l2 UTSW 10 84587134 missense probably damaging 1.00
R7619:Tcp11l2 UTSW 10 84594758 missense probably damaging 1.00
R7774:Tcp11l2 UTSW 10 84604983 missense possibly damaging 0.95
R8145:Tcp11l2 UTSW 10 84608616 missense probably damaging 1.00
R8379:Tcp11l2 UTSW 10 84613605 missense probably damaging 1.00
R8458:Tcp11l2 UTSW 10 84613532 nonsense probably null
R8821:Tcp11l2 UTSW 10 84613658 missense probably damaging 1.00
R8831:Tcp11l2 UTSW 10 84613658 missense probably damaging 1.00
RF008:Tcp11l2 UTSW 10 84613524 missense probably damaging 0.99
Posted On 2012-12-06