Incidental Mutation 'IGL02942:Tcp10a'
ID 364531
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcp10a
Ensembl Gene ENSMUSG00000071322
Gene Name t-complex protein 10a
Synonyms Tcp-10a, D17Leh66A, T66A-a, D17Leh66aa, Gm10326
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL02942
Quality Score
Status
Chromosome 17
Chromosomal Location 7592055-7613259 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7597318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 158 (D158E)
Ref Sequence ENSEMBL: ENSMUSP00000117557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095726] [ENSMUST00000128533] [ENSMUST00000129709] [ENSMUST00000138222] [ENSMUST00000140192] [ENSMUST00000144861] [ENSMUST00000147803]
AlphaFold Q80W76
Predicted Effect probably damaging
Transcript: ENSMUST00000095726
AA Change: D158E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093394
Gene: ENSMUSG00000071322
AA Change: D158E

DomainStartEndE-ValueType
coiled coil region 57 94 N/A INTRINSIC
low complexity region 241 256 N/A INTRINSIC
Pfam:Tcp10_C 263 437 1.3e-83 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128533
AA Change: D158E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114351
Gene: ENSMUSG00000071322
AA Change: D158E

DomainStartEndE-ValueType
coiled coil region 57 94 N/A INTRINSIC
low complexity region 241 256 N/A INTRINSIC
Pfam:Tcp10_C 261 438 1.1e-90 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129709
AA Change: D158E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114830
Gene: ENSMUSG00000071322
AA Change: D158E

DomainStartEndE-ValueType
coiled coil region 57 94 N/A INTRINSIC
low complexity region 241 256 N/A INTRINSIC
Pfam:Tcp10_C 261 438 1.1e-90 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000138222
AA Change: D140E

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115431
Gene: ENSMUSG00000071322
AA Change: D140E

DomainStartEndE-ValueType
coiled coil region 36 76 N/A INTRINSIC
low complexity region 223 238 N/A INTRINSIC
Pfam:Tcp10_C 245 419 6.7e-84 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000140192
AA Change: D158E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117557
Gene: ENSMUSG00000071322
AA Change: D158E

DomainStartEndE-ValueType
coiled coil region 57 94 N/A INTRINSIC
low complexity region 241 256 N/A INTRINSIC
Pfam:Tcp10_C 261 401 3.5e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000144861
AA Change: D158E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122766
Gene: ENSMUSG00000071322
AA Change: D158E

DomainStartEndE-ValueType
coiled coil region 57 94 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147803
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A C 15: 91,033,378 (GRCm39) D679E probably damaging Het
Adh6a A T 3: 138,030,642 (GRCm39) D88V probably damaging Het
Ank3 G A 10: 69,809,707 (GRCm39) V1123I probably damaging Het
Apba1 T C 19: 23,922,335 (GRCm39) V801A possibly damaging Het
Bcl2a1a C T 9: 88,839,095 (GRCm39) probably benign Het
Brd8 A G 18: 34,743,680 (GRCm39) V215A possibly damaging Het
Cdk17 G A 10: 93,074,830 (GRCm39) V454I probably benign Het
Chd5 G A 4: 152,470,182 (GRCm39) G1876D probably damaging Het
Clec4g T C 8: 3,768,356 (GRCm39) E125G probably damaging Het
Col24a1 G A 3: 145,247,420 (GRCm39) G1602D probably damaging Het
Depdc7 A C 2: 104,558,439 (GRCm39) L194R probably damaging Het
Dgke T G 11: 88,946,195 (GRCm39) N202H probably benign Het
Dkk2 T A 3: 131,883,798 (GRCm39) C233S probably damaging Het
Dmpk A C 7: 18,826,166 (GRCm39) D542A probably damaging Het
Epb41l4a G A 18: 34,007,254 (GRCm39) R246W probably damaging Het
Frmpd1 A T 4: 45,285,493 (GRCm39) Q1438L probably damaging Het
Gcgr A G 11: 120,427,643 (GRCm39) probably null Het
Gm10295 T C 7: 71,000,250 (GRCm39) K110R unknown Het
Ifrd1 A G 12: 40,267,375 (GRCm39) probably null Het
Inpp5f A G 7: 128,296,624 (GRCm39) T365A probably benign Het
Kcnn3 A G 3: 89,559,383 (GRCm39) K551R probably benign Het
Lama2 A T 10: 26,917,216 (GRCm39) N2236K probably damaging Het
Larp7 A T 3: 127,337,844 (GRCm39) I405N possibly damaging Het
Meltf C A 16: 31,709,596 (GRCm39) Y432* probably null Het
Mst1r C A 9: 107,790,352 (GRCm39) T655K possibly damaging Het
Myh1 C T 11: 67,093,308 (GRCm39) P133L probably damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or52r1c A T 7: 102,735,405 (GRCm39) M222L probably benign Het
Or5b102 A T 19: 13,041,552 (GRCm39) Q259L probably benign Het
Or6a2 A G 7: 106,600,561 (GRCm39) S169P possibly damaging Het
Pfkl A T 10: 77,835,967 (GRCm39) probably null Het
Plekhb2 T C 1: 34,916,073 (GRCm39) M204T probably damaging Het
Ptp4a2 G A 4: 129,738,986 (GRCm39) probably null Het
Rtp4 A G 16: 23,431,704 (GRCm39) T79A probably benign Het
Senp3 T C 11: 69,568,815 (GRCm39) D410G probably benign Het
Slc16a5 T C 11: 115,360,176 (GRCm39) F120L possibly damaging Het
Snrpe T C 1: 133,536,669 (GRCm39) E37G probably damaging Het
Sorcs1 T C 19: 50,463,875 (GRCm39) T192A probably damaging Het
Spef2 T A 15: 9,668,960 (GRCm39) H742L possibly damaging Het
Syt12 T C 19: 4,497,858 (GRCm39) S375G probably benign Het
Tas2r117 T C 6: 132,780,657 (GRCm39) L265P probably benign Het
Tesk2 A T 4: 116,629,017 (GRCm39) H122L probably damaging Het
Tut7 T G 13: 59,959,335 (GRCm39) N378H probably damaging Het
Unc93b1 T A 19: 3,998,686 (GRCm39) M535K probably damaging Het
Vangl1 C A 3: 102,091,347 (GRCm39) R246S probably damaging Het
Xpo5 C T 17: 46,519,059 (GRCm39) T166I probably damaging Het
Zmiz2 T C 11: 6,349,500 (GRCm39) probably benign Het
Other mutations in Tcp10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Tcp10a APN 17 7,610,899 (GRCm39) missense probably damaging 1.00
IGL01868:Tcp10a APN 17 7,597,263 (GRCm39) missense possibly damaging 0.79
IGL03293:Tcp10a APN 17 7,593,891 (GRCm39) missense possibly damaging 0.62
R0032:Tcp10a UTSW 17 7,604,306 (GRCm39) missense probably benign 0.02
R0129:Tcp10a UTSW 17 7,610,903 (GRCm39) missense probably damaging 1.00
R0271:Tcp10a UTSW 17 7,598,555 (GRCm39) missense probably benign 0.06
R0352:Tcp10a UTSW 17 7,593,805 (GRCm39) missense probably damaging 0.98
R0549:Tcp10a UTSW 17 7,593,950 (GRCm39) missense probably benign 0.11
R1445:Tcp10a UTSW 17 7,593,406 (GRCm39) critical splice donor site probably null
R2147:Tcp10a UTSW 17 7,601,701 (GRCm39) missense probably damaging 0.98
R2937:Tcp10a UTSW 17 7,597,173 (GRCm39) missense probably damaging 1.00
R4599:Tcp10a UTSW 17 7,604,323 (GRCm39) missense probably damaging 0.99
R4601:Tcp10a UTSW 17 7,593,374 (GRCm39) missense probably benign 0.01
R5982:Tcp10a UTSW 17 7,612,425 (GRCm39) missense possibly damaging 0.61
R7132:Tcp10a UTSW 17 7,612,351 (GRCm39) missense probably benign 0.16
R7687:Tcp10a UTSW 17 7,612,507 (GRCm39) missense probably damaging 1.00
R8290:Tcp10a UTSW 17 7,601,716 (GRCm39) missense probably benign 0.01
R9129:Tcp10a UTSW 17 7,593,935 (GRCm39) missense probably benign 0.41
R9478:Tcp10a UTSW 17 7,601,740 (GRCm39) missense probably benign 0.12
Z1088:Tcp10a UTSW 17 7,593,848 (GRCm39) missense probably damaging 1.00
Z1176:Tcp10a UTSW 17 7,592,117 (GRCm39) start gained probably benign
Posted On 2015-12-18