Incidental Mutation 'R0028:Tectb'
ID 15419
Institutional Source Beutler Lab
Gene Symbol Tectb
Ensembl Gene ENSMUSG00000024979
Gene Name tectorin beta
Synonyms Tctnb, [b]-tectorin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R0028 (G1)
Quality Score
Status Validated
Chromosome 19
Chromosomal Location 55169165-55184745 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55183109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 330 (I330T)
Ref Sequence ENSEMBL: ENSMUSP00000113805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025936] [ENSMUST00000069183] [ENSMUST00000120936]
AlphaFold O08524
Predicted Effect probably benign
Transcript: ENSMUST00000025936
AA Change: I320T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000025936
Gene: ENSMUSG00000024979
AA Change: I320T

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
ZP 31 283 3.47e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069183
SMART Domains Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523

DomainStartEndE-ValueType
low complexity region 27 38 N/A INTRINSIC
Pfam:ANF_receptor 65 416 5.2e-36 PFAM
low complexity region 471 487 N/A INTRINSIC
Pfam:Pkinase 574 826 2e-26 PFAM
Pfam:Pkinase_Tyr 577 826 6e-35 PFAM
CYCc 865 1059 6.42e-96 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120936
AA Change: I330T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000113805
Gene: ENSMUSG00000024979
AA Change: I330T

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
ZP 31 293 1.9e-47 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123763
Predicted Effect unknown
Transcript: ENSMUST00000124545
AA Change: I171T
SMART Domains Protein: ENSMUSP00000117645
Gene: ENSMUSG00000024979
AA Change: I171T

DomainStartEndE-ValueType
Pfam:Zona_pellucida 3 116 5.9e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184990
Meta Mutation Damage Score 0.1066 question?
Coding Region Coverage
  • 1x: 80.7%
  • 3x: 72.7%
  • 10x: 50.3%
  • 20x: 30.1%
Validation Efficiency 96% (74/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a non-collagenous glycoprotein component of the tectorial membrane, which covers the auditory hair cells in the cochlea of the inner ear. A similar protein in mouse functions in low-frequency hearing. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for a null allele show an enlarged tectorial membrane with a disrupted striated-sheet matrix, absence of the marginal band, and low-frequency hearing loss. However, basilar-membrane and neural tuning are both enhanced in high-frequency cochlear regions, with little loss in sensitivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,596,698 (GRCm39) F384L probably benign Het
AC159748.1 T C 10: 5,542,006 (GRCm38) silent Het
Adamts12 C T 15: 11,215,710 (GRCm39) R244C probably damaging Het
Bms1 T C 6: 118,393,480 (GRCm39) I131V probably benign Het
Ccdc107 A G 4: 43,495,549 (GRCm39) T151A probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col4a4 A G 1: 82,465,231 (GRCm39) probably null Het
Creb1 A G 1: 64,609,307 (GRCm39) D126G probably damaging Het
Ddb1 T A 19: 10,596,610 (GRCm39) V443E probably damaging Het
Dnmt3a T A 12: 3,950,337 (GRCm39) S634T probably damaging Het
Fras1 A C 5: 96,825,175 (GRCm39) N1455T probably benign Het
Fyb1 A G 15: 6,674,395 (GRCm39) probably benign Het
Gpr141 C T 13: 19,936,599 (GRCm39) V59M probably damaging Het
Ikbke T C 1: 131,199,921 (GRCm39) I222V possibly damaging Het
Macf1 A T 4: 123,275,895 (GRCm39) H6222Q probably damaging Het
Mapk8ip3 C T 17: 25,123,871 (GRCm39) probably benign Het
Phactr1 A T 13: 43,210,655 (GRCm39) D74V probably damaging Het
Prickle2 T C 6: 92,399,323 (GRCm39) I185V probably benign Het
Rnasel A T 1: 153,630,465 (GRCm39) D327V probably benign Het
Slc25a13 T C 6: 6,181,047 (GRCm39) N46D probably benign Het
Slc28a2 T A 2: 122,282,083 (GRCm39) F261L probably damaging Het
Slc6a15 A T 10: 103,252,541 (GRCm39) Y568F probably benign Het
Slc7a1 A G 5: 148,272,321 (GRCm39) V452A probably benign Het
Tmem92 C T 11: 94,669,778 (GRCm39) V118I possibly damaging Het
Tmf1 T C 6: 97,135,059 (GRCm39) E985G probably damaging Het
Traf5 T A 1: 191,758,421 (GRCm39) probably benign Het
Trip11 T C 12: 101,851,016 (GRCm39) E731G probably damaging Het
Unc5a A G 13: 55,151,726 (GRCm39) S50G possibly damaging Het
Wrnip1 T C 13: 33,004,280 (GRCm39) L517P probably damaging Het
Zfp202 T A 9: 40,123,048 (GRCm39) H603Q probably damaging Het
Other mutations in Tectb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01754:Tectb APN 19 55,172,445 (GRCm39) missense probably damaging 1.00
IGL02001:Tectb APN 19 55,178,027 (GRCm39) missense possibly damaging 0.48
IGL02510:Tectb APN 19 55,179,943 (GRCm39) missense probably damaging 1.00
BB010:Tectb UTSW 19 55,183,105 (GRCm39) missense possibly damaging 0.87
BB020:Tectb UTSW 19 55,183,105 (GRCm39) missense possibly damaging 0.87
R0130:Tectb UTSW 19 55,170,393 (GRCm39) missense probably damaging 0.99
R0586:Tectb UTSW 19 55,170,356 (GRCm39) missense probably damaging 1.00
R0598:Tectb UTSW 19 55,178,018 (GRCm39) nonsense probably null
R0655:Tectb UTSW 19 55,178,302 (GRCm39) missense possibly damaging 0.78
R0708:Tectb UTSW 19 55,179,984 (GRCm39) missense probably benign 0.37
R1314:Tectb UTSW 19 55,172,417 (GRCm39) missense probably damaging 1.00
R1999:Tectb UTSW 19 55,169,431 (GRCm39) start gained probably benign
R2000:Tectb UTSW 19 55,169,431 (GRCm39) start gained probably benign
R2024:Tectb UTSW 19 55,170,361 (GRCm39) missense probably damaging 1.00
R2148:Tectb UTSW 19 55,169,431 (GRCm39) start gained probably benign
R2159:Tectb UTSW 19 55,169,431 (GRCm39) start gained probably benign
R2160:Tectb UTSW 19 55,169,431 (GRCm39) start gained probably benign
R2161:Tectb UTSW 19 55,169,431 (GRCm39) start gained probably benign
R2162:Tectb UTSW 19 55,169,431 (GRCm39) start gained probably benign
R2355:Tectb UTSW 19 55,169,431 (GRCm39) start gained probably benign
R2358:Tectb UTSW 19 55,169,431 (GRCm39) start gained probably benign
R2495:Tectb UTSW 19 55,169,431 (GRCm39) start gained probably benign
R2497:Tectb UTSW 19 55,169,431 (GRCm39) start gained probably benign
R2511:Tectb UTSW 19 55,169,431 (GRCm39) start gained probably benign
R2568:Tectb UTSW 19 55,169,431 (GRCm39) start gained probably benign
R2570:Tectb UTSW 19 55,169,431 (GRCm39) start gained probably benign
R2848:Tectb UTSW 19 55,169,431 (GRCm39) start gained probably benign
R2897:Tectb UTSW 19 55,169,431 (GRCm39) start gained probably benign
R2898:Tectb UTSW 19 55,169,431 (GRCm39) start gained probably benign
R3712:Tectb UTSW 19 55,169,431 (GRCm39) start gained probably benign
R5671:Tectb UTSW 19 55,181,059 (GRCm39) missense probably benign 0.42
R5875:Tectb UTSW 19 55,178,058 (GRCm39) missense possibly damaging 0.94
R6312:Tectb UTSW 19 55,181,094 (GRCm39) frame shift probably null
R6315:Tectb UTSW 19 55,179,904 (GRCm39) missense possibly damaging 0.73
R6366:Tectb UTSW 19 55,170,350 (GRCm39) missense probably damaging 1.00
R7729:Tectb UTSW 19 55,181,104 (GRCm39) missense
R7933:Tectb UTSW 19 55,183,105 (GRCm39) missense possibly damaging 0.87
R8408:Tectb UTSW 19 55,178,099 (GRCm39) critical splice donor site probably null
R8557:Tectb UTSW 19 55,181,105 (GRCm39) unclassified probably benign
R8835:Tectb UTSW 19 55,172,270 (GRCm39) missense probably benign 0.43
R8918:Tectb UTSW 19 55,180,000 (GRCm39) missense probably damaging 1.00
R8935:Tectb UTSW 19 55,183,132 (GRCm39) missense probably benign
R9239:Tectb UTSW 19 55,181,094 (GRCm39) frame shift probably null
R9345:Tectb UTSW 19 55,183,097 (GRCm39) missense probably benign 0.00
R9467:Tectb UTSW 19 55,181,093 (GRCm39) missense
Posted On 2012-12-21