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
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL03325
Quality Score
Status
Chromosome 10
Chromosomal Location 84576626-84614359 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 84604900 bp (GRCm38)
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
1700011H14Rik A T 14: 49,243,820 probably benign Het
4930435E12Rik A T 16: 38,827,993 S251R probably damaging Het
Abca8b G A 11: 109,953,596 R870C possibly damaging Het
Abcf2 A T 5: 24,574,212 L113I probably damaging Het
Abi1 C T 2: 22,971,228 R106Q probably damaging Het
Arhgef28 A G 13: 97,899,816 V1645A probably benign Het
Ceacam1 G A 7: 25,476,487 A94V possibly damaging Het
Fat2 G A 11: 55,282,342 T2515I probably damaging Het
Gm4951 T A 18: 60,245,811 Y139* probably null Het
Gm5800 T C 14: 51,714,526 Y93C probably benign Het
Gnl1 A G 17: 35,988,656 D573G probably damaging Het
Gosr1 A G 11: 76,754,403 M105T probably benign Het
Gramd1c A T 16: 44,005,505 Y303N probably benign Het
Heatr9 A G 11: 83,513,259 probably null Het
Itih2 T C 2: 10,106,735 D464G probably damaging Het
Jcad T C 18: 4,673,902 Y555H probably benign Het
Krtap19-3 A T 16: 88,877,721 *88R probably null Het
Mrps11 T C 7: 78,790,705 F114S probably damaging Het
Nat8 A T 6: 85,830,893 V86E possibly damaging Het
Nek5 T C 8: 22,079,142 T555A probably benign Het
Olfr788 A T 10: 129,473,605 K304N probably benign Het
Pprc1 C T 19: 46,061,509 T10I possibly damaging Het
Prss16 A G 13: 22,003,247 V409A possibly damaging Het
Sema3d T A 5: 12,463,222 L53Q probably damaging Het
Sfmbt2 T C 2: 10,577,817 Y696H probably damaging Het
Sh2d3c C T 2: 32,725,258 A120V probably benign Het
Smn1 A G 13: 100,127,857 Y32C probably damaging Het
Sun2 C T 15: 79,738,648 R110Q probably benign Het
Tnni3k A T 3: 154,961,814 S296R probably damaging Het
Uck1 G A 2: 32,258,322 R161C probably benign Het
Unc79 T A 12: 103,169,610 S2435T probably damaging Het
Vmn2r114 C A 17: 23,291,678 K609N probably damaging Het
Other mutations in Tcp11l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00725:Tcp11l2 APN 10 84594710 missense possibly damaging 0.82
IGL00845:Tcp11l2 APN 10 84604983 missense possibly damaging 0.95
IGL02375:Tcp11l2 APN 10 84605068 critical splice donor site probably null
IGL02418:Tcp11l2 APN 10 84613606 nonsense probably null
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 2016-08-02