Incidental Mutation 'R6698:Tcp11'
ID 528669
Institutional Source Beutler Lab
Gene Symbol Tcp11
Ensembl Gene ENSMUSG00000062859
Gene Name t-complex protein 11
Synonyms Tcp-11, D17Ken1
MMRRC Submission 044816-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6698 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 28285725-28299583 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28290804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 106 (I106N)
Ref Sequence ENSEMBL: ENSMUSP00000116959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042692] [ENSMUST00000043925] [ENSMUST00000114836] [ENSMUST00000129046] [ENSMUST00000141806]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000042692
AA Change: I185N

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000038590
Gene: ENSMUSG00000062859
AA Change: I185N

DomainStartEndE-ValueType
Pfam:Tcp11 126 550 6.2e-102 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000043925
AA Change: I106N

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000046002
Gene: ENSMUSG00000062859
AA Change: I106N

DomainStartEndE-ValueType
Pfam:Tcp11 44 474 3.3e-129 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114836
AA Change: I106N

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110485
Gene: ENSMUSG00000062859
AA Change: I106N

DomainStartEndE-ValueType
Pfam:Tcp11 44 474 3.3e-129 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123628
Predicted Effect possibly damaging
Transcript: ENSMUST00000129046
AA Change: I106N

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116959
Gene: ENSMUSG00000062859
AA Change: I106N

DomainStartEndE-ValueType
Pfam:Tcp11 44 237 2.5e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134228
Predicted Effect probably benign
Transcript: ENSMUST00000141806
SMART Domains Protein: ENSMUSP00000122010
Gene: ENSMUSG00000062859

DomainStartEndE-ValueType
Pfam:Tcp11 123 183 7.1e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142461
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 95% (40/42)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brca2 T C 5: 150,455,859 (GRCm39) V200A probably damaging Het
Camk2g T A 14: 20,792,776 (GRCm39) K393* probably null Het
Catsperb T A 12: 101,475,466 (GRCm39) F337I probably damaging Het
Cdk17 T C 10: 93,064,540 (GRCm39) Y270H probably damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Col6a5 T A 9: 105,811,374 (GRCm39) N715I unknown Het
Fancg A G 4: 43,007,034 (GRCm39) S248P probably benign Het
Flvcr1 T C 1: 190,757,929 (GRCm39) Y79C probably damaging Het
Gabrp A G 11: 33,507,017 (GRCm39) S198P probably damaging Het
Gask1b A G 3: 79,843,902 (GRCm39) I10V probably damaging Het
Glp1r A G 17: 31,155,375 (GRCm39) Y454C probably damaging Het
Gpr158 A C 2: 21,831,921 (GRCm39) D1007A probably damaging Het
Gsdmc3 A G 15: 63,732,120 (GRCm39) F302S possibly damaging Het
Gsdmc4 T A 15: 63,765,613 (GRCm39) D312V probably benign Het
Itga5 T C 15: 103,259,808 (GRCm39) Y663C probably benign Het
Kif1b A T 4: 149,359,413 (GRCm39) M108K probably damaging Het
Klf11 T G 12: 24,703,618 (GRCm39) S18A probably damaging Het
Lmtk2 T C 5: 144,111,737 (GRCm39) V819A probably benign Het
Lrba A G 3: 86,211,732 (GRCm39) M451V probably damaging Het
Lrp1b T C 2: 41,192,958 (GRCm39) D488G probably damaging Het
Mark4 T C 7: 19,163,362 (GRCm39) N589S probably benign Het
Mis12 T C 11: 70,916,012 (GRCm39) F15S probably damaging Het
Nif3l1 A G 1: 58,489,648 (GRCm39) D179G probably benign Het
Nlrx1 A G 9: 44,177,104 (GRCm39) W3R probably damaging Het
Nup210l G A 3: 90,089,815 (GRCm39) S1194N possibly damaging Het
Or13m2-ps1 A T 6: 42,778,136 (GRCm39) T154S probably benign Het
Or5d20-ps1 A G 2: 87,931,561 (GRCm39) F257L unknown Het
Pnkd T A 1: 74,389,836 (GRCm39) L320Q probably damaging Het
Prkn A G 17: 11,286,183 (GRCm39) probably null Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Homo
Rilpl2 C T 5: 124,607,843 (GRCm39) E126K probably damaging Het
Rpn2 T C 2: 157,139,330 (GRCm39) I208T possibly damaging Het
Skint4 G T 4: 111,977,096 (GRCm39) C170F probably damaging Het
Synj1 C G 16: 90,757,340 (GRCm39) V877L probably damaging Het
Tg A G 15: 66,711,211 (GRCm39) Y991C probably damaging Het
Trib3 A G 2: 152,180,339 (GRCm39) S285P probably damaging Het
Wdr49 A T 3: 75,336,673 (GRCm39) W345R probably benign Het
Wnt5a A G 14: 28,240,420 (GRCm39) Y190C possibly damaging Het
Xpo1 A G 11: 23,244,040 (GRCm39) E955G probably benign Het
Other mutations in Tcp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02993:Tcp11 APN 17 28,289,490 (GRCm39) missense probably damaging 1.00
IGL03148:Tcp11 APN 17 28,289,444 (GRCm39) missense possibly damaging 0.95
R0487:Tcp11 UTSW 17 28,298,897 (GRCm39) splice site probably null
R0603:Tcp11 UTSW 17 28,286,784 (GRCm39) missense probably damaging 1.00
R0745:Tcp11 UTSW 17 28,286,134 (GRCm39) missense possibly damaging 0.80
R1170:Tcp11 UTSW 17 28,290,636 (GRCm39) missense probably damaging 1.00
R2965:Tcp11 UTSW 17 28,288,239 (GRCm39) missense probably benign 0.38
R5249:Tcp11 UTSW 17 28,290,757 (GRCm39) missense possibly damaging 0.71
R5358:Tcp11 UTSW 17 28,296,994 (GRCm39) missense probably benign 0.05
R5819:Tcp11 UTSW 17 28,288,210 (GRCm39) missense probably damaging 1.00
R6190:Tcp11 UTSW 17 28,290,691 (GRCm39) missense probably benign 0.00
R6657:Tcp11 UTSW 17 28,290,646 (GRCm39) missense probably damaging 1.00
R7020:Tcp11 UTSW 17 28,290,679 (GRCm39) missense possibly damaging 0.79
R7084:Tcp11 UTSW 17 28,285,995 (GRCm39) missense probably benign 0.43
R8262:Tcp11 UTSW 17 28,286,001 (GRCm39) missense probably damaging 1.00
R8363:Tcp11 UTSW 17 28,288,221 (GRCm39) missense possibly damaging 0.93
R8465:Tcp11 UTSW 17 28,286,766 (GRCm39) missense probably damaging 1.00
R8675:Tcp11 UTSW 17 28,288,565 (GRCm39) missense probably benign 0.00
R8830:Tcp11 UTSW 17 28,299,204 (GRCm39) missense probably benign 0.26
R8831:Tcp11 UTSW 17 28,299,193 (GRCm39) missense probably damaging 0.97
R8940:Tcp11 UTSW 17 28,299,204 (GRCm39) missense probably damaging 0.96
R9689:Tcp11 UTSW 17 28,286,028 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- TCGTCTCGGATTGGCGCA -3'
(R):5'- GAACCCATTGCTGCTCATCT -3'

Sequencing Primer
(F):5'- TCGGATTGGCGCACACAAC -3'
(R):5'- GCTACACAGAGAAAGCCTGTCTTG -3'
Posted On 2018-07-24