Incidental Mutation 'R0549:Tcp10a'
ID 45045
Institutional Source Beutler Lab
Gene Symbol Tcp10a
Ensembl Gene ENSMUSG00000071322
Gene Name t-complex protein 10a
Synonyms Tcp-10a, D17Leh66A, T66A-a, D17Leh66aa, Gm10326
MMRRC Submission 038741-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R0549 (G1)
Quality Score 223
Status Validated
Chromosome 17
Chromosomal Location 7592055-7613259 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7593950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 92 (K92E)
Ref Sequence ENSEMBL: ENSMUSP00000114830 (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: K92E

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000093394
Gene: ENSMUSG00000071322
AA Change: K92E

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: K92E

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114351
Gene: ENSMUSG00000071322
AA Change: K92E

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: K92E

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114830
Gene: ENSMUSG00000071322
AA Change: K92E

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: K74E

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000115431
Gene: ENSMUSG00000071322
AA Change: K74E

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: K92E

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000117557
Gene: ENSMUSG00000071322
AA Change: K92E

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 benign
Transcript: ENSMUST00000144861
AA Change: K92E

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122766
Gene: ENSMUSG00000071322
AA Change: K92E

DomainStartEndE-ValueType
coiled coil region 57 94 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147803
Meta Mutation Damage Score 0.1586 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 96% (48/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,633,216 (GRCm39) F498L probably damaging Het
Adamts6 A T 13: 104,433,763 (GRCm39) D64V possibly damaging Het
Agbl2 T C 2: 90,620,187 (GRCm39) probably benign Het
Angptl3 A G 4: 98,919,692 (GRCm39) S151G probably benign Het
Arhgap39 C T 15: 76,619,086 (GRCm39) D833N probably damaging Het
C4b G T 17: 34,954,389 (GRCm39) L927I probably damaging Het
Ccl3 T C 11: 83,539,162 (GRCm39) T66A probably damaging Het
Cdh20 T C 1: 110,036,674 (GRCm39) L618P probably damaging Het
Cfap65 T C 1: 74,957,603 (GRCm39) T989A probably benign Het
Cfhr4 A T 1: 139,667,226 (GRCm39) D377E probably damaging Het
Cnpy4 T C 5: 138,185,899 (GRCm39) F18S possibly damaging Het
Col6a5 A G 9: 105,781,778 (GRCm39) probably benign Het
Dppa2 G A 16: 48,139,034 (GRCm39) R289H probably benign Het
Evx2 T C 2: 74,489,478 (GRCm39) T96A probably benign Het
Frmd4a A G 2: 4,608,778 (GRCm39) E577G possibly damaging Het
Gcgr G A 11: 120,427,387 (GRCm39) G166S probably benign Het
Gm5316 T C 6: 122,877,150 (GRCm39) noncoding transcript Het
Gria1 G A 11: 57,119,799 (GRCm39) R292Q probably damaging Het
Hars2 T A 18: 36,919,261 (GRCm39) probably null Het
Hkdc1 T A 10: 62,236,019 (GRCm39) T508S probably benign Het
Kif2b A T 11: 91,467,410 (GRCm39) I291N probably damaging Het
Lmbrd1 A T 1: 24,784,001 (GRCm39) T377S probably benign Het
Lrrc28 A G 7: 67,278,090 (GRCm39) probably benign Het
Mmp3 A T 9: 7,455,638 (GRCm39) N463I probably benign Het
Myh6 A G 14: 55,196,065 (GRCm39) F578S probably damaging Het
Ncbp1 T A 4: 46,168,476 (GRCm39) M608K possibly damaging Het
Nf1 T C 11: 79,359,597 (GRCm39) F1412L probably damaging Het
Nlrp5 T A 7: 23,141,227 (GRCm39) W1083R probably damaging Het
Nrsn1 T C 13: 25,446,241 (GRCm39) Y45C probably benign Het
Or3a1b T G 11: 74,012,301 (GRCm39) M62R probably damaging Het
Osbpl7 G T 11: 96,958,368 (GRCm39) R881L probably damaging Het
Papss1 A G 3: 131,324,974 (GRCm39) E456G possibly damaging Het
Pbxip1 T A 3: 89,350,899 (GRCm39) probably benign Het
Pcca A G 14: 122,875,789 (GRCm39) probably benign Het
Pde1a T A 2: 79,695,414 (GRCm39) N511I probably damaging Het
Prpf39 A T 12: 65,103,030 (GRCm39) I435F probably benign Het
Rnf213 C T 11: 119,355,908 (GRCm39) T4117M probably damaging Het
Sel1l2 A T 2: 140,107,802 (GRCm39) M216K probably damaging Het
Sidt2 A G 9: 45,864,417 (GRCm39) probably null Het
Sirt3 A T 7: 140,449,400 (GRCm39) probably null Het
Smpd4 T C 16: 17,457,176 (GRCm39) V378A probably benign Het
Svil T A 18: 5,064,566 (GRCm39) S642T possibly damaging Het
Tmem144 T C 3: 79,730,051 (GRCm39) D233G probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnik T C 3: 28,625,069 (GRCm39) S335P possibly damaging Het
Ush2a T C 1: 188,679,150 (GRCm39) L4786P probably damaging Het
Utp11 A T 4: 124,579,872 (GRCm39) probably benign Het
Vmn1r67 A G 7: 10,181,641 (GRCm39) N241D probably damaging Het
Vmn2r11 A T 5: 109,199,963 (GRCm39) C497S possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TGCCTGGTAAGTGTCTGTCACTCTC -3'
(R):5'- TTCCATCAGAGCCTGTGAGTGTCC -3'

Sequencing Primer
(F):5'- TCTTCCTACCCCAGGGGC -3'
(R):5'- AGCCTGTGAGTGTCCTAGAGAC -3'
Posted On 2013-06-11