Incidental Mutation 'R1553:Tecta'
ID 170088
Institutional Source Beutler Lab
Gene Symbol Tecta
Ensembl Gene ENSMUSG00000037705
Gene Name tectorin alpha
Synonyms [a]-tectorin, Tctna
MMRRC Submission 039592-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R1553 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 42240915-42311225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42259482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1467 (D1467V)
Ref Sequence ENSEMBL: ENSMUSP00000125370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042190] [ENSMUST00000160940]
AlphaFold O08523
Predicted Effect probably damaging
Transcript: ENSMUST00000042190
AA Change: D1467V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040262
Gene: ENSMUSG00000037705
AA Change: D1467V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
NIDO 98 254 7.88e-77 SMART
VWC 260 314 1.04e0 SMART
VWD 312 477 1.5e-58 SMART
C8 517 592 7.06e-29 SMART
EGF_like 622 645 3.87e1 SMART
VWC 652 713 1.87e-1 SMART
VWD 703 865 4.44e-43 SMART
C8 905 981 9.19e-19 SMART
Pfam:TIL 984 1036 9.8e-13 PFAM
VWD 1090 1257 1.44e-51 SMART
C8 1294 1369 4.64e-15 SMART
EGF_like 1388 1420 5.34e1 SMART
VWC 1427 1487 2.88e-19 SMART
VWD 1477 1638 2.72e-38 SMART
C8 1684 1758 6.51e-10 SMART
ZP 1805 2059 2.95e-85 SMART
EGF 2087 2122 2.07e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159603
Predicted Effect probably damaging
Transcript: ENSMUST00000160940
AA Change: D1467V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125370
Gene: ENSMUSG00000037705
AA Change: D1467V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
NIDO 98 254 7.88e-77 SMART
VWC 260 314 1.04e0 SMART
VWD 312 477 1.5e-58 SMART
C8 517 592 7.06e-29 SMART
EGF_like 622 645 3.87e1 SMART
VWC 652 713 1.87e-1 SMART
VWD 703 865 4.44e-43 SMART
C8 905 981 9.19e-19 SMART
Pfam:TIL 984 1036 6.1e-13 PFAM
VWD 1090 1257 1.44e-51 SMART
C8 1294 1369 4.64e-15 SMART
EGF_like 1388 1420 5.34e1 SMART
VWC 1427 1487 2.88e-19 SMART
VWD 1477 1638 2.72e-38 SMART
C8 1679 1753 6.51e-10 SMART
ZP 1800 2054 2.95e-85 SMART
EGF 2082 2117 2.07e1 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit a tectorial membrane that is detached from the cochlear epithelium. Though the basilar membranes of mutant mice are tuned, sensitivity is attenuated. Mice with an Y1870C mutation have a disrupted tectorial membrane, elevated neural thresholds and broadened neural tuning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 G T 5: 24,613,748 (GRCm39) A649S probably damaging Het
Adam6a T A 12: 113,508,835 (GRCm39) C403S probably damaging Het
Adgrg3 T C 8: 95,766,896 (GRCm39) F417S possibly damaging Het
Ago1 T C 4: 126,334,194 (GRCm39) E439G probably damaging Het
Alox15 A G 11: 70,240,458 (GRCm39) V241A possibly damaging Het
Arhgap6 A G X: 168,048,480 (GRCm39) H566R probably damaging Het
Asap1 A T 15: 64,024,701 (GRCm39) F345I probably benign Het
Atp1b2 A G 11: 69,493,678 (GRCm39) Y134H probably damaging Het
Atp8b3 G A 10: 80,368,376 (GRCm39) T199M probably damaging Het
Calb1 A T 4: 15,895,656 (GRCm39) S115C probably damaging Het
Ccdc68 A T 18: 70,073,192 (GRCm39) I47F probably damaging Het
Cdc42bpa A T 1: 179,921,540 (GRCm39) N560I probably benign Het
Cdhr3 T C 12: 33,092,370 (GRCm39) D747G probably benign Het
Cdk5rap1 T G 2: 154,194,171 (GRCm39) N378T probably damaging Het
Chil4 T G 3: 106,111,006 (GRCm39) N296T probably benign Het
Cryaa G A 17: 31,898,533 (GRCm39) V87I probably damaging Het
Csk G A 9: 57,538,225 (GRCm39) L28F probably damaging Het
Cspp1 A G 1: 10,156,122 (GRCm39) N444D possibly damaging Het
Cyp2j8 A G 4: 96,363,794 (GRCm39) Y290H probably benign Het
Eps8l1 A T 7: 4,480,448 (GRCm39) D563V probably damaging Het
Fam111a A T 19: 12,564,682 (GRCm39) S144C possibly damaging Het
Fam135a A T 1: 24,060,951 (GRCm39) S1145R probably damaging Het
Fpr2 T A 17: 18,113,856 (GRCm39) V284D possibly damaging Het
Furin A G 7: 80,048,340 (GRCm39) probably null Het
Gatd1 T C 7: 140,989,806 (GRCm39) T135A probably benign Het
Gdf3 A G 6: 122,586,724 (GRCm39) S68P probably benign Het
Gm6871 T C 7: 41,195,822 (GRCm39) H305R probably benign Het
Grip1 A G 10: 119,890,756 (GRCm39) S917G probably damaging Het
Hdac10 T A 15: 89,009,718 (GRCm39) E388V possibly damaging Het
Hectd1 T C 12: 51,820,661 (GRCm39) N1176S probably damaging Het
Hectd4 A G 5: 121,487,322 (GRCm39) D3439G probably benign Het
Kcna4 T C 2: 107,127,032 (GRCm39) Y589H probably benign Het
Kcnk5 A T 14: 20,192,462 (GRCm39) L233Q probably damaging Het
Kcnt1 T C 2: 25,790,397 (GRCm39) I453T probably damaging Het
Kifc3 A G 8: 95,833,170 (GRCm39) I440T possibly damaging Het
Krt10 C A 11: 99,276,806 (GRCm39) G40* probably null Het
Lce1i A T 3: 92,685,102 (GRCm39) C25S unknown Het
Met A G 6: 17,491,460 (GRCm39) N74S probably benign Het
Naa35 G A 13: 59,766,093 (GRCm39) probably null Het
Naalad2 T C 9: 18,289,965 (GRCm39) N221S probably benign Het
Nolc1 AGCG AGCGGCG 19: 46,069,814 (GRCm39) probably benign Het
Nsmf T C 2: 24,950,271 (GRCm39) V181A probably damaging Het
Nwd2 T A 5: 63,957,848 (GRCm39) S393T probably benign Het
Or12j3 T A 7: 139,952,951 (GRCm39) T191S probably damaging Het
Or2d3c A T 7: 106,526,201 (GRCm39) V155E possibly damaging Het
Or51a6 T A 7: 102,604,425 (GRCm39) I128L possibly damaging Het
Papola T A 12: 105,786,669 (GRCm39) S453R probably benign Het
Paqr9 A G 9: 95,442,262 (GRCm39) N84S probably damaging Het
Pde5a T C 3: 122,572,585 (GRCm39) V290A probably benign Het
Prf1 T C 10: 61,138,948 (GRCm39) V302A probably damaging Het
Psg18 T C 7: 18,087,406 (GRCm39) Y84C probably benign Het
Rasgrf2 C T 13: 92,038,783 (GRCm39) R1021H probably damaging Het
Rnf114 G T 2: 167,354,522 (GRCm39) R201L possibly damaging Het
Rp1l1 A G 14: 64,269,343 (GRCm39) E1643G probably benign Het
Scg3 T A 9: 75,576,586 (GRCm39) E263V probably null Het
Scn2a C T 2: 65,544,180 (GRCm39) R854* probably null Het
Setdb2 T C 14: 59,654,934 (GRCm39) K319E probably benign Het
Stub1 A T 17: 26,051,097 (GRCm39) V95E probably damaging Het
Tas2r140 T A 6: 133,032,471 (GRCm39) N96Y probably damaging Het
Tenm3 T A 8: 48,689,456 (GRCm39) T2044S probably damaging Het
Tlr2 T A 3: 83,744,770 (GRCm39) M438L probably benign Het
Tmem179 T C 12: 112,471,094 (GRCm39) Y106C probably benign Het
Tspan7 A G X: 10,451,854 (GRCm39) H187R probably benign Het
Ttn T C 2: 76,757,619 (GRCm39) D3332G probably damaging Het
Upp2 T C 2: 58,680,152 (GRCm39) F326S probably damaging Het
Usp2 T A 9: 44,003,452 (GRCm39) D224E probably damaging Het
Vmn1r5 T A 6: 56,962,483 (GRCm39) F53I probably benign Het
Wapl T A 14: 34,451,147 (GRCm39) L727H probably damaging Het
Wipf1 T C 2: 73,267,870 (GRCm39) D176G possibly damaging Het
Xpnpep1 G T 19: 52,994,769 (GRCm39) D243E probably benign Het
Zfp616 A T 11: 73,974,744 (GRCm39) I429F possibly damaging Het
Zfyve26 G A 12: 79,334,535 (GRCm39) P161L probably benign Het
Other mutations in Tecta
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Tecta APN 9 42,243,844 (GRCm39) missense probably damaging 1.00
IGL00925:Tecta APN 9 42,286,331 (GRCm39) missense probably benign
IGL00960:Tecta APN 9 42,270,376 (GRCm39) missense possibly damaging 0.74
IGL00974:Tecta APN 9 42,242,670 (GRCm39) missense probably benign 0.00
IGL01070:Tecta APN 9 42,306,299 (GRCm39) missense probably damaging 1.00
IGL01284:Tecta APN 9 42,256,916 (GRCm39) missense probably damaging 1.00
IGL01324:Tecta APN 9 42,256,727 (GRCm39) missense probably damaging 1.00
IGL01694:Tecta APN 9 42,278,475 (GRCm39) missense possibly damaging 0.92
IGL01861:Tecta APN 9 42,284,658 (GRCm39) missense probably benign
IGL02010:Tecta APN 9 42,248,489 (GRCm39) missense probably damaging 0.97
IGL02397:Tecta APN 9 42,306,294 (GRCm39) missense probably damaging 1.00
IGL03031:Tecta APN 9 42,256,789 (GRCm39) missense probably benign
IGL03208:Tecta APN 9 42,248,396 (GRCm39) splice site probably benign
IGL03249:Tecta APN 9 42,303,182 (GRCm39) missense probably benign 0.20
cover UTSW 9 42,255,183 (GRCm39) missense probably benign 0.05
lid UTSW 9 42,284,406 (GRCm39) missense probably damaging 0.99
R0004:Tecta UTSW 9 42,256,774 (GRCm39) missense possibly damaging 0.74
R0045:Tecta UTSW 9 42,286,487 (GRCm39) missense probably damaging 1.00
R0045:Tecta UTSW 9 42,286,487 (GRCm39) missense probably damaging 1.00
R0119:Tecta UTSW 9 42,263,359 (GRCm39) missense probably damaging 1.00
R0133:Tecta UTSW 9 42,278,524 (GRCm39) missense probably benign 0.00
R0157:Tecta UTSW 9 42,286,307 (GRCm39) missense probably benign
R0180:Tecta UTSW 9 42,278,109 (GRCm39) missense probably benign
R0299:Tecta UTSW 9 42,263,359 (GRCm39) missense probably damaging 1.00
R0345:Tecta UTSW 9 42,295,514 (GRCm39) missense probably damaging 0.98
R0370:Tecta UTSW 9 42,278,100 (GRCm39) missense probably benign
R0465:Tecta UTSW 9 42,270,714 (GRCm39) missense possibly damaging 0.62
R0466:Tecta UTSW 9 42,284,369 (GRCm39) missense probably benign
R0479:Tecta UTSW 9 42,249,235 (GRCm39) missense probably damaging 1.00
R0498:Tecta UTSW 9 42,288,910 (GRCm39) missense probably damaging 1.00
R0499:Tecta UTSW 9 42,263,359 (GRCm39) missense probably damaging 1.00
R0519:Tecta UTSW 9 42,259,188 (GRCm39) splice site probably benign
R0584:Tecta UTSW 9 42,259,204 (GRCm39) missense possibly damaging 0.79
R0589:Tecta UTSW 9 42,256,930 (GRCm39) missense probably benign 0.01
R0607:Tecta UTSW 9 42,299,501 (GRCm39) missense probably damaging 1.00
R0691:Tecta UTSW 9 42,295,637 (GRCm39) missense probably damaging 1.00
R0905:Tecta UTSW 9 42,250,290 (GRCm39) missense probably damaging 1.00
R1216:Tecta UTSW 9 42,289,203 (GRCm39) missense probably benign 0.44
R1239:Tecta UTSW 9 42,243,781 (GRCm39) missense probably damaging 1.00
R1442:Tecta UTSW 9 42,243,778 (GRCm39) missense probably damaging 1.00
R1727:Tecta UTSW 9 42,270,597 (GRCm39) missense probably damaging 0.96
R1728:Tecta UTSW 9 42,303,218 (GRCm39) missense probably benign 0.12
R1729:Tecta UTSW 9 42,303,218 (GRCm39) missense probably benign 0.12
R1762:Tecta UTSW 9 42,286,605 (GRCm39) missense probably benign 0.30
R1778:Tecta UTSW 9 42,254,927 (GRCm39) missense probably damaging 1.00
R1795:Tecta UTSW 9 42,289,345 (GRCm39) missense probably benign
R1796:Tecta UTSW 9 42,295,493 (GRCm39) missense probably damaging 1.00
R1866:Tecta UTSW 9 42,303,320 (GRCm39) missense probably damaging 0.97
R1871:Tecta UTSW 9 42,248,636 (GRCm39) missense probably damaging 1.00
R1871:Tecta UTSW 9 42,248,472 (GRCm39) missense probably damaging 0.98
R1911:Tecta UTSW 9 42,249,232 (GRCm39) missense probably damaging 1.00
R2074:Tecta UTSW 9 42,248,575 (GRCm39) nonsense probably null
R2135:Tecta UTSW 9 42,251,581 (GRCm39) missense probably damaging 1.00
R2171:Tecta UTSW 9 42,270,220 (GRCm39) missense probably damaging 0.99
R2220:Tecta UTSW 9 42,303,326 (GRCm39) missense probably damaging 1.00
R2372:Tecta UTSW 9 42,299,570 (GRCm39) missense probably damaging 1.00
R2570:Tecta UTSW 9 42,243,848 (GRCm39) missense probably damaging 1.00
R2939:Tecta UTSW 9 42,289,290 (GRCm39) missense possibly damaging 0.63
R2940:Tecta UTSW 9 42,289,290 (GRCm39) missense possibly damaging 0.63
R3081:Tecta UTSW 9 42,289,290 (GRCm39) missense possibly damaging 0.63
R3407:Tecta UTSW 9 42,249,150 (GRCm39) missense probably damaging 1.00
R3732:Tecta UTSW 9 42,303,402 (GRCm39) missense possibly damaging 0.95
R3771:Tecta UTSW 9 42,242,292 (GRCm39) missense probably damaging 1.00
R3772:Tecta UTSW 9 42,242,292 (GRCm39) missense probably damaging 1.00
R3773:Tecta UTSW 9 42,242,292 (GRCm39) missense probably damaging 1.00
R3832:Tecta UTSW 9 42,250,329 (GRCm39) missense probably damaging 1.00
R4378:Tecta UTSW 9 42,278,004 (GRCm39) missense probably damaging 1.00
R4480:Tecta UTSW 9 42,284,529 (GRCm39) missense possibly damaging 0.75
R4485:Tecta UTSW 9 42,248,570 (GRCm39) missense possibly damaging 0.73
R4804:Tecta UTSW 9 42,309,533 (GRCm39) missense probably benign
R4869:Tecta UTSW 9 42,286,830 (GRCm39) missense probably benign 0.02
R4944:Tecta UTSW 9 42,241,573 (GRCm39) missense probably benign 0.05
R5008:Tecta UTSW 9 42,284,358 (GRCm39) missense possibly damaging 0.76
R5014:Tecta UTSW 9 42,284,538 (GRCm39) missense probably damaging 1.00
R5125:Tecta UTSW 9 42,286,481 (GRCm39) missense probably damaging 1.00
R5178:Tecta UTSW 9 42,286,481 (GRCm39) missense probably damaging 1.00
R5180:Tecta UTSW 9 42,248,504 (GRCm39) missense probably damaging 1.00
R5214:Tecta UTSW 9 42,256,964 (GRCm39) missense probably benign 0.04
R5230:Tecta UTSW 9 42,306,239 (GRCm39) missense probably damaging 0.96
R5330:Tecta UTSW 9 42,249,152 (GRCm39) missense probably damaging 1.00
R5387:Tecta UTSW 9 42,286,359 (GRCm39) missense probably damaging 0.98
R5614:Tecta UTSW 9 42,250,351 (GRCm39) missense probably damaging 1.00
R5708:Tecta UTSW 9 42,250,222 (GRCm39) missense probably damaging 1.00
R5738:Tecta UTSW 9 42,284,474 (GRCm39) missense possibly damaging 0.63
R5770:Tecta UTSW 9 42,256,885 (GRCm39) missense possibly damaging 0.94
R5839:Tecta UTSW 9 42,284,272 (GRCm39) missense possibly damaging 0.86
R5839:Tecta UTSW 9 42,242,319 (GRCm39) missense probably benign 0.03
R6119:Tecta UTSW 9 42,284,371 (GRCm39) missense probably benign 0.00
R6246:Tecta UTSW 9 42,289,204 (GRCm39) missense probably benign 0.07
R6377:Tecta UTSW 9 42,255,051 (GRCm39) missense probably damaging 1.00
R6416:Tecta UTSW 9 42,286,563 (GRCm39) missense probably damaging 0.97
R6595:Tecta UTSW 9 42,295,523 (GRCm39) missense probably damaging 1.00
R6850:Tecta UTSW 9 42,255,134 (GRCm39) missense probably benign 0.20
R6859:Tecta UTSW 9 42,303,425 (GRCm39) missense probably damaging 1.00
R6861:Tecta UTSW 9 42,248,633 (GRCm39) missense possibly damaging 0.93
R6939:Tecta UTSW 9 42,259,293 (GRCm39) missense probably damaging 1.00
R6996:Tecta UTSW 9 42,278,082 (GRCm39) missense probably benign
R7069:Tecta UTSW 9 42,306,237 (GRCm39) missense probably benign 0.03
R7104:Tecta UTSW 9 42,278,239 (GRCm39) missense probably benign 0.00
R7129:Tecta UTSW 9 42,259,287 (GRCm39) missense probably damaging 1.00
R7220:Tecta UTSW 9 42,255,183 (GRCm39) missense probably benign 0.05
R7251:Tecta UTSW 9 42,299,048 (GRCm39) missense probably damaging 1.00
R7307:Tecta UTSW 9 42,289,288 (GRCm39) missense probably damaging 1.00
R7343:Tecta UTSW 9 42,248,628 (GRCm39) missense probably damaging 1.00
R7355:Tecta UTSW 9 42,278,438 (GRCm39) nonsense probably null
R7635:Tecta UTSW 9 42,242,283 (GRCm39) missense probably benign 0.11
R7653:Tecta UTSW 9 42,248,532 (GRCm39) missense probably damaging 1.00
R7723:Tecta UTSW 9 42,278,232 (GRCm39) missense probably damaging 1.00
R7939:Tecta UTSW 9 42,299,519 (GRCm39) missense probably damaging 0.99
R7966:Tecta UTSW 9 42,306,258 (GRCm39) missense probably damaging 0.98
R7967:Tecta UTSW 9 42,289,251 (GRCm39) missense possibly damaging 0.95
R8000:Tecta UTSW 9 42,278,480 (GRCm39) nonsense probably null
R8064:Tecta UTSW 9 42,306,251 (GRCm39) missense possibly damaging 0.94
R8117:Tecta UTSW 9 42,288,927 (GRCm39) missense probably damaging 1.00
R8176:Tecta UTSW 9 42,270,465 (GRCm39) missense probably damaging 0.97
R8284:Tecta UTSW 9 42,289,325 (GRCm39) missense possibly damaging 0.89
R8315:Tecta UTSW 9 42,299,121 (GRCm39) critical splice acceptor site probably null
R8321:Tecta UTSW 9 42,284,349 (GRCm39) missense probably damaging 1.00
R8332:Tecta UTSW 9 42,286,310 (GRCm39) missense probably damaging 1.00
R8437:Tecta UTSW 9 42,243,856 (GRCm39) missense probably damaging 0.98
R8496:Tecta UTSW 9 42,241,547 (GRCm39) missense probably benign 0.01
R8514:Tecta UTSW 9 42,284,406 (GRCm39) missense probably damaging 0.99
R8683:Tecta UTSW 9 42,278,268 (GRCm39) missense probably damaging 0.96
R8856:Tecta UTSW 9 42,284,597 (GRCm39) missense probably benign 0.13
R8886:Tecta UTSW 9 42,278,359 (GRCm39) missense probably benign 0.37
R9047:Tecta UTSW 9 42,286,375 (GRCm39) missense probably benign 0.00
R9106:Tecta UTSW 9 42,278,479 (GRCm39) missense probably benign 0.05
R9332:Tecta UTSW 9 42,284,193 (GRCm39) missense probably damaging 1.00
R9352:Tecta UTSW 9 42,249,147 (GRCm39) missense probably damaging 1.00
R9462:Tecta UTSW 9 42,248,576 (GRCm39) missense probably damaging 1.00
R9535:Tecta UTSW 9 42,270,759 (GRCm39) missense probably damaging 0.99
R9564:Tecta UTSW 9 42,249,123 (GRCm39) missense probably damaging 0.97
R9592:Tecta UTSW 9 42,250,238 (GRCm39) missense probably damaging 1.00
R9715:Tecta UTSW 9 42,286,596 (GRCm39) missense probably damaging 1.00
Z1176:Tecta UTSW 9 42,303,390 (GRCm39) missense probably damaging 0.99
Z1177:Tecta UTSW 9 42,286,872 (GRCm39) missense probably benign 0.00
Z1177:Tecta UTSW 9 42,303,366 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCTGGCAGATGGTTGAGAGCAC -3'
(R):5'- TCGGAATCGCATCAACGGGATGAG -3'

Sequencing Primer
(F):5'- CACGAAGGCGCAGTTGG -3'
(R):5'- TTTGAACGAAGGCAGCCTC -3'
Posted On 2014-04-13