Incidental Mutation 'BB014:Tcp10b'
ID 642836
Institutional Source Beutler Lab
Gene Symbol Tcp10b
Ensembl Gene ENSMUSG00000055602
Gene Name t-complex protein 10b
Synonyms Tcp-10b, Tcp-10bt, D17Leh66ba, T66B-a, D17Leh66B
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # BB014
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 13279987-13301124 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13288579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 202 (T202A)
Ref Sequence ENSEMBL: ENSMUSP00000083997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086787] [ENSMUST00000116666] [ENSMUST00000163227]
AlphaFold E9PYJ0
Predicted Effect probably benign
Transcript: ENSMUST00000086787
AA Change: T202A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000083997
Gene: ENSMUSG00000055602
AA Change: T202A

DomainStartEndE-ValueType
coiled coil region 57 94 N/A INTRINSIC
low complexity region 245 255 N/A INTRINSIC
Pfam:Tcp10_C 261 438 2.3e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116666
AA Change: T202A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000112365
Gene: ENSMUSG00000055602
AA Change: T202A

DomainStartEndE-ValueType
coiled coil region 57 94 N/A INTRINSIC
low complexity region 245 255 N/A INTRINSIC
Pfam:Tcp10_C 263 437 1.5e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163227
AA Change: T202A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000128059
Gene: ENSMUSG00000055602
AA Change: T202A

DomainStartEndE-ValueType
coiled coil region 57 94 N/A INTRINSIC
low complexity region 245 255 N/A INTRINSIC
Pfam:Tcp10_C 261 401 1.3e-68 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,123,539 (GRCm39) M111T probably benign Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Agrn C T 4: 156,257,266 (GRCm39) G1188D probably damaging Het
Amz2 A G 11: 109,319,884 (GRCm39) K90R probably damaging Het
Arhgef4 G T 1: 34,846,334 (GRCm39) Q227H probably damaging Het
B4galt3 T A 1: 171,099,342 (GRCm39) C10* probably null Het
Banf2 T A 2: 143,915,718 (GRCm39) M53K probably benign Het
BC034090 A T 1: 155,117,371 (GRCm39) L249* probably null Het
Cftr A G 6: 18,267,970 (GRCm39) D673G possibly damaging Het
Cntnap2 G T 6: 47,072,621 (GRCm39) C1063F possibly damaging Het
Cstpp1 T A 2: 91,252,250 (GRCm39) D37V probably damaging Het
Dnah3 A G 7: 119,550,494 (GRCm39) I296T probably damaging Het
Dpy19l2 A G 9: 24,607,197 (GRCm39) V88A probably benign Het
Fbln5 T C 12: 101,784,647 (GRCm39) probably benign Het
Fbn1 T C 2: 125,225,656 (GRCm39) D532G possibly damaging Het
Fnta G A 8: 26,494,454 (GRCm39) R258* probably null Het
Gch1 G A 14: 47,393,380 (GRCm39) H201Y probably damaging Het
Grik2 A T 10: 49,116,890 (GRCm39) S624T probably damaging Het
Grm5 T A 7: 87,685,382 (GRCm39) S500T probably benign Het
Hmcn1 T A 1: 150,485,526 (GRCm39) I4359F probably damaging Het
Hrc T A 7: 44,985,477 (GRCm39) H209Q possibly damaging Het
Hsd17b14 T C 7: 45,215,395 (GRCm39) M164T probably damaging Het
Hydin T C 8: 111,307,476 (GRCm39) F3952L possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lig4 A T 8: 10,023,629 (GRCm39) H50Q possibly damaging Het
Lrp6 G T 6: 134,497,513 (GRCm39) R165S probably damaging Het
Muc4 A G 16: 32,592,011 (GRCm39) T958A Het
Myo19 A G 11: 84,791,046 (GRCm39) E419G probably damaging Het
Ndufa5 A G 6: 24,527,291 (GRCm39) V16A possibly damaging Het
Or10a2 T C 7: 106,673,496 (GRCm39) F154L probably benign Het
Phf24 A C 4: 42,934,774 (GRCm39) T137P probably damaging Het
Pkp4 A T 2: 59,142,098 (GRCm39) N467I probably damaging Het
Pramel25 T A 4: 143,519,536 (GRCm39) I99N probably benign Het
Rbm12b2 C T 4: 12,095,417 (GRCm39) R759C possibly damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rnf34 T A 5: 122,988,288 (GRCm39) probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCAGCGGCGGC 7: 97,229,131 (GRCm39) probably benign Het
Scaf8 T A 17: 3,209,495 (GRCm39) S73T unknown Het
Scn4a T A 11: 106,233,209 (GRCm39) E454D probably damaging Het
Serpina1e A G 12: 103,917,450 (GRCm39) V73A probably benign Het
Sh3rf2 A G 18: 42,244,487 (GRCm39) T350A probably benign Het
Slc35a1 A G 4: 34,669,021 (GRCm39) V264A probably damaging Het
Slf2 A G 19: 44,923,740 (GRCm39) K185E probably damaging Het
Spmip8 T A 8: 96,039,786 (GRCm39) S68T probably benign Het
Spsb2 T C 6: 124,786,336 (GRCm39) F23S probably benign Het
Ssx2ip T G 3: 146,138,365 (GRCm39) L404R probably damaging Het
Strn4 T A 7: 16,560,556 (GRCm39) L236Q probably null Het
Tdp1 G T 12: 99,878,555 (GRCm39) V448L probably damaging Het
Tecrl T C 5: 83,502,666 (GRCm39) E61G probably damaging Het
Trim50 T C 5: 135,382,465 (GRCm39) F106L probably benign Het
Usp5 G T 6: 124,801,192 (GRCm39) F224L probably benign Het
Vmn2r45 C A 7: 8,486,513 (GRCm39) M258I probably benign Het
Zfp574 T A 7: 24,779,572 (GRCm39) V198E probably benign Het
Zmym4 A G 4: 126,799,170 (GRCm39) I722T probably benign Het
Other mutations in Tcp10b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Tcp10b APN 17 13,299,047 (GRCm39) missense probably damaging 1.00
IGL03296:Tcp10b APN 17 13,292,443 (GRCm39) missense probably damaging 0.97
maimonides UTSW 17 13,292,466 (GRCm39) missense probably damaging 0.97
BB004:Tcp10b UTSW 17 13,288,579 (GRCm39) missense probably benign 0.00
H8441:Tcp10b UTSW 17 13,289,748 (GRCm39) missense probably damaging 0.98
R1817:Tcp10b UTSW 17 13,286,590 (GRCm39) missense possibly damaging 0.92
R1901:Tcp10b UTSW 17 13,300,513 (GRCm39) missense possibly damaging 0.56
R4657:Tcp10b UTSW 17 13,292,504 (GRCm39) critical splice donor site probably null
R4749:Tcp10b UTSW 17 13,289,832 (GRCm39) critical splice donor site probably null
R5335:Tcp10b UTSW 17 13,281,954 (GRCm39) critical splice donor site probably null
R6401:Tcp10b UTSW 17 13,292,466 (GRCm39) missense probably damaging 0.97
R7161:Tcp10b UTSW 17 13,300,633 (GRCm39) makesense probably null
R7927:Tcp10b UTSW 17 13,288,579 (GRCm39) missense probably benign 0.00
R8549:Tcp10b UTSW 17 13,281,915 (GRCm39) missense probably benign 0.21
R9055:Tcp10b UTSW 17 13,281,828 (GRCm39) missense probably damaging 1.00
R9099:Tcp10b UTSW 17 13,280,656 (GRCm39) unclassified probably benign
R9105:Tcp10b UTSW 17 13,285,236 (GRCm39) missense probably benign 0.08
R9801:Tcp10b UTSW 17 13,281,867 (GRCm39) missense possibly damaging 0.67
X0062:Tcp10b UTSW 17 13,281,948 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAAAGGCTGACTGCACTCAG -3'
(R):5'- ACTCATCTGAAAGGCTGAGC -3'

Sequencing Primer
(F):5'- TTCGGACTTGGAACTCTG -3'
(R):5'- AGGACTTGCAGCCATAGC -3'
Posted On 2020-08-01