Incidental Mutation 'IGL03293:Tcp10a'
ID 415980
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 # IGL03293
Quality Score
Status
Chromosome 17
Chromosomal Location 7592055-7613259 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7593891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 72 (E72G)
Ref Sequence ENSEMBL: ENSMUSP00000122766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095726] [ENSMUST00000128533] [ENSMUST00000129709] [ENSMUST00000138222] [ENSMUST00000140192] [ENSMUST00000144861] [ENSMUST00000147803]
AlphaFold Q80W76
Predicted Effect probably benign
Transcript: ENSMUST00000095726
AA Change: E72G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000093394
Gene: ENSMUSG00000071322
AA Change: E72G

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 benign
Transcript: ENSMUST00000128533
AA Change: E72G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114351
Gene: ENSMUSG00000071322
AA Change: E72G

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 benign
Transcript: ENSMUST00000129709
AA Change: E72G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114830
Gene: ENSMUSG00000071322
AA Change: E72G

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 benign
Transcript: ENSMUST00000138222
AA Change: E54G

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000115431
Gene: ENSMUSG00000071322
AA Change: E54G

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 benign
Transcript: ENSMUST00000140192
AA Change: E72G

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000117557
Gene: ENSMUSG00000071322
AA Change: E72G

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 possibly damaging
Transcript: ENSMUST00000144861
AA Change: E72G

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000122766
Gene: ENSMUSG00000071322
AA Change: E72G

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,615,375 (GRCm39) probably null Het
Akr1c14 C T 13: 4,129,130 (GRCm39) R45* probably null Het
Ccdc62 T A 5: 124,089,288 (GRCm39) L309I possibly damaging Het
Ccdc66 T A 14: 27,212,628 (GRCm39) N565I probably damaging Het
Cerkl G T 2: 79,172,719 (GRCm39) A318E probably damaging Het
Clec4n A T 6: 123,209,105 (GRCm39) T57S probably benign Het
Cluh A G 11: 74,556,578 (GRCm39) E921G probably benign Het
Cnbd1 C T 4: 18,860,565 (GRCm39) E394K possibly damaging Het
Dmgdh G T 13: 93,843,209 (GRCm39) M348I probably benign Het
Dnajc13 G A 9: 104,051,625 (GRCm39) S1744L possibly damaging Het
Dspp A T 5: 104,325,427 (GRCm39) S597C unknown Het
Dync1h1 A T 12: 110,595,168 (GRCm39) N1360I probably benign Het
Eepd1 A G 9: 25,514,708 (GRCm39) H505R possibly damaging Het
Entr1 A T 2: 26,277,688 (GRCm39) probably benign Het
Gcnt7 T C 2: 172,296,303 (GRCm39) T174A possibly damaging Het
Gnb1 T C 4: 155,625,004 (GRCm39) probably benign Het
Gpam A G 19: 55,059,448 (GRCm39) S800P probably benign Het
Gsr T C 8: 34,185,024 (GRCm39) probably benign Het
Herc2 A G 7: 55,804,878 (GRCm39) K2302R probably benign Het
Hipk1 C A 3: 103,684,575 (GRCm39) A347S possibly damaging Het
Iqgap2 T C 13: 95,867,942 (GRCm39) N222S probably damaging Het
Marco T A 1: 120,422,524 (GRCm39) M46L probably benign Het
Morc2b A T 17: 33,357,337 (GRCm39) V145D probably damaging Het
Mprip C A 11: 59,586,989 (GRCm39) P54Q probably damaging Het
Ndufv2 A T 17: 66,390,444 (GRCm39) C175* probably null Het
Or13c25 A G 4: 52,910,835 (GRCm39) *320Q probably null Het
Or4p20 T C 2: 88,253,571 (GRCm39) D266G probably damaging Het
Orc3 A C 4: 34,595,210 (GRCm39) I195S probably damaging Het
Otos C A 1: 92,572,135 (GRCm39) E64* probably null Het
Plxna2 T C 1: 194,487,253 (GRCm39) S1603P probably damaging Het
Rlf A T 4: 121,005,527 (GRCm39) I1151N probably benign Het
Scaper A G 9: 55,782,107 (GRCm39) V283A probably benign Het
Slc25a43 A G X: 36,039,252 (GRCm39) T270A probably benign Het
Slc35a5 A G 16: 44,964,144 (GRCm39) V78A probably damaging Het
Smurf1 A T 5: 144,818,609 (GRCm39) D636E probably benign Het
Tchhl1 A T 3: 93,377,582 (GRCm39) E95D probably damaging Het
Tmem232 A G 17: 65,757,369 (GRCm39) S275P probably damaging Het
Ugt1a5 T C 1: 88,094,540 (GRCm39) F256S probably damaging Het
Ulbp3 A G 10: 3,075,699 (GRCm39) noncoding transcript Het
Vmn2r5 A G 3: 64,398,747 (GRCm39) V744A probably benign Het
Vmn2r53 A T 7: 12,332,349 (GRCm39) S433R probably benign Het
Vmn2r9 A T 5: 108,995,997 (GRCm39) I217N probably damaging Het
Wdr83 G T 8: 85,807,216 (GRCm39) A10E 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
IGL02942:Tcp10a APN 17 7,597,318 (GRCm39) missense probably damaging 0.99
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 2016-08-02