Incidental Mutation 'R0586:Tectb'
ID 55793
Institutional Source Beutler Lab
Gene Symbol Tectb
Ensembl Gene ENSMUSG00000024979
Gene Name tectorin beta
Synonyms Tctnb, [b]-tectorin
MMRRC Submission 038776-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R0586 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 55169165-55184745 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55170356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 69 (Y69F)
Ref Sequence ENSEMBL: ENSMUSP00000113805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025936] [ENSMUST00000120936] [ENSMUST00000154886]
AlphaFold O08524
Predicted Effect probably damaging
Transcript: ENSMUST00000025936
AA Change: Y69F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025936
Gene: ENSMUSG00000024979
AA Change: Y69F

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
ZP 31 283 3.47e-50 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120936
AA Change: Y69F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113805
Gene: ENSMUSG00000024979
AA Change: Y69F

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
ZP 31 293 1.9e-47 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000154886
AA Change: Y69F

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121767
Gene: ENSMUSG00000024979
AA Change: Y69F

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
ZP 31 196 6.19e-2 SMART
Meta Mutation Damage Score 0.1897 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.5%
  • 20x: 94.4%
Validation Efficiency 100% (74/74)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A T 4: 53,092,860 (GRCm39) V308E probably benign Het
Amy1 A G 3: 113,356,418 (GRCm39) probably benign Het
Astn2 C T 4: 66,103,379 (GRCm39) V345M unknown Het
Brwd1 T C 16: 95,844,286 (GRCm39) E756G probably damaging Het
Ccpg1 C T 9: 72,909,103 (GRCm39) L135F probably benign Het
Cecr2 C T 6: 120,734,845 (GRCm39) H694Y probably damaging Het
Cfh G A 1: 140,110,920 (GRCm39) T14I probably damaging Het
Cfhr2 G A 1: 139,741,172 (GRCm39) R268* probably null Het
Clca3a1 T A 3: 144,738,350 (GRCm39) I53L probably benign Het
Clcn6 A G 4: 148,123,206 (GRCm39) probably benign Het
Cnfn C T 7: 25,067,256 (GRCm39) V98I probably benign Het
Cntnap1 C T 11: 101,077,840 (GRCm39) R1122W probably damaging Het
Cpne9 A T 6: 113,272,024 (GRCm39) E384V probably damaging Het
Ctr9 T C 7: 110,648,705 (GRCm39) probably benign Het
Ctsj T A 13: 61,151,515 (GRCm39) probably benign Het
Cyp2c39 A C 19: 39,501,934 (GRCm39) probably benign Het
Dock5 A C 14: 68,046,481 (GRCm39) I767S probably damaging Het
Eftud2 T C 11: 102,737,446 (GRCm39) T552A probably damaging Het
Epdr1 A G 13: 19,778,715 (GRCm39) I25T probably damaging Het
Fcgbp A T 7: 27,789,138 (GRCm39) D568V probably damaging Het
Fcgbpl1 T A 7: 27,836,516 (GRCm39) V145D probably damaging Het
Fhip1b T C 7: 105,038,654 (GRCm39) E195G probably damaging Het
Frem2 T A 3: 53,555,342 (GRCm39) T1732S probably damaging Het
Fuz T C 7: 44,547,982 (GRCm39) V183A possibly damaging Het
Grb7 T C 11: 98,344,046 (GRCm39) S284P probably damaging Het
Hoxb4 G T 11: 96,209,713 (GRCm39) G40C probably damaging Het
Kcnn1 T C 8: 71,316,513 (GRCm39) probably benign Het
Kmt2d C A 15: 98,733,088 (GRCm39) probably benign Het
L3mbtl3 A G 10: 26,203,732 (GRCm39) V366A unknown Het
Ldlr G A 9: 21,651,040 (GRCm39) R486H probably benign Het
Lnpep A T 17: 17,795,658 (GRCm39) probably benign Het
Mical3 A T 6: 121,006,602 (GRCm39) probably benign Het
Myh15 T C 16: 48,992,250 (GRCm39) probably benign Het
Nup155 T A 15: 8,159,716 (GRCm39) H542Q probably benign Het
Opn4 A G 14: 34,320,930 (GRCm39) probably benign Het
Or13a20 T C 7: 140,231,976 (GRCm39) F28S probably benign Het
Or4a68 T A 2: 89,269,698 (GRCm39) R308S possibly damaging Het
Or6c68 A G 10: 129,157,916 (GRCm39) I141M probably benign Het
Or8g4 A T 9: 39,662,414 (GRCm39) H244L probably damaging Het
Or8h10 T C 2: 86,809,126 (GRCm39) N5D probably damaging Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Parp14 T C 16: 35,661,382 (GRCm39) K1522R probably benign Het
Pkhd1 A T 1: 20,594,335 (GRCm39) D1259E probably benign Het
Pogz C T 3: 94,786,664 (GRCm39) A1084V probably damaging Het
Popdc3 G A 10: 45,191,359 (GRCm39) V157M probably benign Het
Prrt4 T C 6: 29,171,183 (GRCm39) Y423C probably damaging Het
Qrich1 C T 9: 108,411,719 (GRCm39) H415Y probably damaging Het
Rabgap1 A G 2: 37,433,235 (GRCm39) N801D probably benign Het
Rb1 A G 14: 73,525,124 (GRCm39) probably benign Het
Rp1 A T 1: 4,418,060 (GRCm39) N1017K possibly damaging Het
Ryr2 T C 13: 11,650,445 (GRCm39) D356G probably null Het
Skint8 C G 4: 111,794,126 (GRCm39) P172R probably damaging Het
Slc12a8 T G 16: 33,478,600 (GRCm39) M643R possibly damaging Het
Sult1c2 A T 17: 54,271,113 (GRCm39) probably benign Het
Tasor2 A G 13: 3,640,321 (GRCm39) L272P probably damaging Het
Tcaf1 T A 6: 42,650,473 (GRCm39) M869L probably damaging Het
Tecpr1 T C 5: 144,154,219 (GRCm39) N78S probably damaging Het
Them4 A T 3: 94,237,101 (GRCm39) N187I possibly damaging Het
Tm9sf3 A G 19: 41,244,582 (GRCm39) probably null Het
Tnik G T 3: 28,631,510 (GRCm39) probably benign Het
Tns2 G T 15: 102,018,020 (GRCm39) probably benign Het
Tnxb A G 17: 34,891,118 (GRCm39) D487G probably damaging Het
Trim33 T A 3: 103,217,660 (GRCm39) C202S probably damaging Het
Trpm2 T A 10: 77,759,350 (GRCm39) I1145F probably damaging Het
Trpv2 A G 11: 62,483,596 (GRCm39) T478A probably benign Het
Ube2e3 T C 2: 78,750,334 (GRCm39) Y187H probably benign Het
Ubxn11 A G 4: 133,836,963 (GRCm39) R64G possibly damaging Het
Wwtr1 T C 3: 57,366,487 (GRCm39) T407A probably damaging Het
Zfyve26 A T 12: 79,315,502 (GRCm39) S1325T possibly 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
R0028:Tectb UTSW 19 55,183,109 (GRCm39) missense probably benign 0.01
R0130:Tectb UTSW 19 55,170,393 (GRCm39) missense probably damaging 0.99
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
Predicted Primers PCR Primer
(F):5'- TCTGTGTGACATCGAGGTGCTGAC -3'
(R):5'- TGTACATGGGCAGGACCAACAAC -3'

Sequencing Primer
(F):5'- GCTGACCATGTCTGATTTAAAGCC -3'
(R):5'- ACTAGCTTTGAAAAGGGCTTTG -3'
Posted On 2013-07-11