Incidental Mutation 'IGL03325:Tcp11l2'
ID 416612
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
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # IGL03325
Quality Score
Status
Chromosome 10
Chromosomal Location 84412811-84450219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 84440764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 323 (D323E)
Ref Sequence ENSEMBL: ENSMUSP00000020223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020223]
AlphaFold Q8K1H7
Predicted Effect possibly damaging
Transcript: ENSMUST00000020223
AA Change: D323E

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020223
Gene: ENSMUSG00000020034
AA Change: D323E

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,844,422 (GRCm39) R870C possibly damaging Het
Abcf2 A T 5: 24,779,210 (GRCm39) L113I probably damaging Het
Abi1 C T 2: 22,861,240 (GRCm39) R106Q probably damaging Het
Arhgef28 A G 13: 98,036,324 (GRCm39) V1645A probably benign Het
Ccdc198 A T 14: 49,481,277 (GRCm39) probably benign Het
Ceacam1 G A 7: 25,175,912 (GRCm39) A94V possibly damaging Het
Fat2 G A 11: 55,173,168 (GRCm39) T2515I probably damaging Het
Gm5800 T C 14: 51,951,983 (GRCm39) Y93C probably benign Het
Gnl1 A G 17: 36,299,548 (GRCm39) D573G probably damaging Het
Gosr1 A G 11: 76,645,229 (GRCm39) M105T probably benign Het
Gramd1c A T 16: 43,825,868 (GRCm39) Y303N probably benign Het
Heatr9 A G 11: 83,404,085 (GRCm39) probably null Het
Iigp1c T A 18: 60,378,883 (GRCm39) Y139* probably null Het
Itih2 T C 2: 10,111,546 (GRCm39) D464G probably damaging Het
Jcad T C 18: 4,673,902 (GRCm39) Y555H probably benign Het
Krtap19-3 A T 16: 88,674,609 (GRCm39) *88R probably null Het
Mrps11 T C 7: 78,440,453 (GRCm39) F114S probably damaging Het
Nat8 A T 6: 85,807,875 (GRCm39) V86E possibly damaging Het
Nek5 T C 8: 22,569,158 (GRCm39) T555A probably benign Het
Or6c3 A T 10: 129,309,474 (GRCm39) K304N probably benign Het
Pprc1 C T 19: 46,049,948 (GRCm39) T10I possibly damaging Het
Prss16 A G 13: 22,187,417 (GRCm39) V409A possibly damaging Het
Sema3d T A 5: 12,513,189 (GRCm39) L53Q probably damaging Het
Sfmbt2 T C 2: 10,582,628 (GRCm39) Y696H probably damaging Het
Sh2d3c C T 2: 32,615,270 (GRCm39) A120V probably benign Het
Smn1 A G 13: 100,264,365 (GRCm39) Y32C probably damaging Het
Sun2 C T 15: 79,622,849 (GRCm39) R110Q probably benign Het
Tex55 A T 16: 38,648,355 (GRCm39) S251R probably damaging Het
Tnni3k A T 3: 154,667,451 (GRCm39) S296R probably damaging Het
Uck1 G A 2: 32,148,334 (GRCm39) R161C probably benign Het
Unc79 T A 12: 103,135,869 (GRCm39) S2435T probably damaging Het
Vmn2r114 C A 17: 23,510,652 (GRCm39) K609N probably damaging Het
Other mutations in Tcp11l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00725:Tcp11l2 APN 10 84,430,574 (GRCm39) missense possibly damaging 0.82
IGL00845:Tcp11l2 APN 10 84,440,847 (GRCm39) missense possibly damaging 0.95
IGL02375:Tcp11l2 APN 10 84,440,932 (GRCm39) critical splice donor site probably null
IGL02418:Tcp11l2 APN 10 84,449,470 (GRCm39) nonsense probably null
R0031:Tcp11l2 UTSW 10 84,427,004 (GRCm39) missense probably damaging 0.98
R0591:Tcp11l2 UTSW 10 84,440,458 (GRCm39) missense probably benign 0.05
R1563:Tcp11l2 UTSW 10 84,420,808 (GRCm39) missense probably damaging 0.96
R1607:Tcp11l2 UTSW 10 84,449,351 (GRCm39) missense probably damaging 1.00
R1840:Tcp11l2 UTSW 10 84,440,463 (GRCm39) missense probably damaging 0.98
R2144:Tcp11l2 UTSW 10 84,449,363 (GRCm39) missense probably damaging 1.00
R2251:Tcp11l2 UTSW 10 84,440,933 (GRCm39) critical splice donor site probably null
R4289:Tcp11l2 UTSW 10 84,440,937 (GRCm39) splice site probably null
R4639:Tcp11l2 UTSW 10 84,420,800 (GRCm39) missense probably damaging 1.00
R4844:Tcp11l2 UTSW 10 84,449,555 (GRCm39) missense probably benign 0.00
R4973:Tcp11l2 UTSW 10 84,427,027 (GRCm39) missense probably damaging 0.98
R5264:Tcp11l2 UTSW 10 84,449,524 (GRCm39) missense probably damaging 1.00
R5970:Tcp11l2 UTSW 10 84,430,661 (GRCm39) splice site probably benign
R6966:Tcp11l2 UTSW 10 84,427,133 (GRCm39) missense possibly damaging 0.79
R7250:Tcp11l2 UTSW 10 84,423,105 (GRCm39) critical splice donor site probably null
R7535:Tcp11l2 UTSW 10 84,430,523 (GRCm39) missense possibly damaging 0.67
R7565:Tcp11l2 UTSW 10 84,422,998 (GRCm39) missense probably damaging 1.00
R7619:Tcp11l2 UTSW 10 84,430,622 (GRCm39) missense probably damaging 1.00
R7774:Tcp11l2 UTSW 10 84,440,847 (GRCm39) missense possibly damaging 0.95
R8145:Tcp11l2 UTSW 10 84,444,480 (GRCm39) missense probably damaging 1.00
R8379:Tcp11l2 UTSW 10 84,449,469 (GRCm39) missense probably damaging 1.00
R8458:Tcp11l2 UTSW 10 84,449,396 (GRCm39) nonsense probably null
R8821:Tcp11l2 UTSW 10 84,449,522 (GRCm39) missense probably damaging 1.00
R8831:Tcp11l2 UTSW 10 84,449,522 (GRCm39) missense probably damaging 1.00
RF008:Tcp11l2 UTSW 10 84,449,388 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02