Incidental Mutation 'R0180:Tecta'
ID 23825
Institutional Source Beutler Lab
Gene Symbol Tecta
Ensembl Gene ENSMUSG00000037705
Gene Name tectorin alpha
Synonyms [a]-tectorin, Tctna
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R0180 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 42240915-42311225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 42278109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 1133 (P1133Q)
Ref Sequence ENSEMBL: ENSMUSP00000125370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042190] [ENSMUST00000160940]
AlphaFold O08523
Predicted Effect probably benign
Transcript: ENSMUST00000042190
AA Change: P1133Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040262
Gene: ENSMUSG00000037705
AA Change: P1133Q

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 probably benign
Transcript: ENSMUST00000160940
AA Change: P1133Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125370
Gene: ENSMUSG00000037705
AA Change: P1133Q

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 89.5%
Validation Efficiency 77% (53/69)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik T A 19: 21,630,003 (GRCm39) N24Y probably damaging Het
2810408A11Rik A T 11: 69,789,702 (GRCm39) M311K probably benign Het
Ackr2 T C 9: 121,737,982 (GRCm39) I119T probably benign Het
Adamtsl3 A G 7: 82,225,198 (GRCm39) M336V probably benign Het
Adhfe1 T A 1: 9,634,082 (GRCm39) F374I probably benign Het
Apob C T 12: 8,058,285 (GRCm39) Q2256* probably null Het
Arg1 T C 10: 24,792,728 (GRCm39) I169V probably benign Het
Atxn1 A G 13: 45,711,024 (GRCm39) V636A probably damaging Het
B3gnt5 T A 16: 19,587,850 (GRCm39) I23K possibly damaging Het
Catsperg1 A T 7: 28,889,856 (GRCm39) probably null Het
Celf3 T A 3: 94,392,647 (GRCm39) F115L probably damaging Het
Cep192 T A 18: 67,968,559 (GRCm39) H984Q probably damaging Het
Col18a1 A G 10: 76,932,351 (GRCm39) V493A probably benign Het
Col5a2 C T 1: 45,450,620 (GRCm39) G376S probably damaging Het
Colec12 A G 18: 9,848,890 (GRCm39) H356R probably damaging Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cracr2a T C 6: 127,581,037 (GRCm39) probably null Het
Ctsr T C 13: 61,310,559 (GRCm39) H62R probably damaging Het
Cyp4f40 G T 17: 32,878,641 (GRCm39) W61L probably benign Het
Dnah9 T G 11: 66,038,116 (GRCm39) H140P probably damaging Het
Dnai7 A G 6: 145,128,944 (GRCm39) probably benign Het
Dnm1 T G 2: 32,218,005 (GRCm39) I464L probably damaging Het
Dnmt1 G A 9: 20,819,916 (GRCm39) T1409I probably damaging Het
Dock1 G A 7: 134,700,566 (GRCm39) D1109N probably damaging Het
Efhc1 A G 1: 21,037,713 (GRCm39) M297V probably benign Het
Emcn A T 3: 137,124,755 (GRCm39) probably null Het
Ephb1 A T 9: 101,804,703 (GRCm39) M905K probably damaging Het
Fbxw10 A G 11: 62,743,922 (GRCm39) Y276C probably benign Het
Fermt3 C A 19: 6,979,711 (GRCm39) S474I possibly damaging Het
Frg1 T A 8: 41,852,105 (GRCm39) probably null Het
Gbf1 T C 19: 46,274,161 (GRCm39) S1732P probably benign Het
Gbp8 A C 5: 105,179,142 (GRCm39) L119R probably damaging Het
Gldc C T 19: 30,078,217 (GRCm39) A927T possibly damaging Het
Gm8836 T A 6: 70,237,389 (GRCm39) probably benign Het
Grhl3 C T 4: 135,281,841 (GRCm39) V344I probably benign Het
Hhipl1 T A 12: 108,294,329 (GRCm39) L745H probably damaging Het
Ido1 T C 8: 25,083,156 (GRCm39) I90V possibly damaging Het
Itpr2 T A 6: 146,403,407 (GRCm39) probably benign Het
Kif1b T G 4: 149,298,116 (GRCm39) S1029R probably damaging Het
Kmt2a G A 9: 44,738,148 (GRCm39) probably benign Het
Limk1 T C 5: 134,698,115 (GRCm39) N215D probably damaging Het
Lims2 A G 18: 32,089,368 (GRCm39) K144E probably benign Het
Mfsd6l A T 11: 68,447,371 (GRCm39) Q74L possibly damaging Het
Mroh1 T A 15: 76,312,450 (GRCm39) S546T probably damaging Het
Ncbp3 T A 11: 72,955,804 (GRCm39) probably null Het
Nlrx1 G A 9: 44,166,756 (GRCm39) H776Y possibly damaging Het
Nptxr T C 15: 79,678,604 (GRCm39) M228V probably benign Het
Nsf T A 11: 103,821,606 (GRCm39) L13F probably damaging Het
Nyap1 T C 5: 137,736,283 (GRCm39) E68G probably damaging Het
Or10p22 A T 10: 128,826,703 (GRCm39) R307S possibly damaging Het
Or51r1 A G 7: 102,228,239 (GRCm39) Y179C probably damaging Het
Pcdhb9 A G 18: 37,535,307 (GRCm39) N434D probably damaging Het
Pgm5 T C 19: 24,793,127 (GRCm39) D313G probably damaging Het
Pkdcc G A 17: 83,529,299 (GRCm39) probably null Het
Pkp1 T C 1: 135,814,538 (GRCm39) K261R probably benign Het
Pnpla6 A G 8: 3,574,250 (GRCm39) probably null Het
Polr3b A G 10: 84,458,379 (GRCm39) T17A probably benign Het
Ppt2 A T 17: 34,845,477 (GRCm39) M98K probably damaging Het
Rasal3 T C 17: 32,618,379 (GRCm39) D142G probably benign Het
Rbm17 G A 2: 11,592,590 (GRCm39) S295L probably benign Het
Rhbdf1 A T 11: 32,160,042 (GRCm39) V153D possibly damaging Het
Slc6a3 C T 13: 73,710,455 (GRCm39) T355M probably damaging Het
Snrnp35 A T 5: 124,628,883 (GRCm39) probably benign Het
Sorcs2 A T 5: 36,311,189 (GRCm39) I37N probably damaging Het
Tmem145 A G 7: 25,014,124 (GRCm39) I413V probably benign Het
Trappc11 G T 8: 47,981,009 (GRCm39) T144K possibly damaging Het
Triml2 A T 8: 43,643,346 (GRCm39) I223L probably benign Het
Ube2g2 T A 10: 77,466,573 (GRCm39) N19K possibly damaging Het
Ubqln3 A G 7: 103,791,047 (GRCm39) Y348H probably damaging Het
Wfs1 A G 5: 37,124,372 (GRCm39) F840L probably damaging Het
Zc3h11a T C 1: 133,549,349 (GRCm39) I771V probably benign Het
Zdhhc23 G A 16: 43,794,066 (GRCm39) P203S probably benign Het
Zfp106 T G 2: 120,364,356 (GRCm39) T684P probably damaging Het
Zfp217 A T 2: 169,962,057 (GRCm39) L90Q probably damaging 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
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
R1553:Tecta UTSW 9 42,259,482 (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'- TGCTGCCTCCATAGGTGCTGAATC -3'
(R):5'- TGCTACTGCAATGGCACAGACAAC -3'

Sequencing Primer
(F):5'- CATAGGTGCTGAATCCACTCTGG -3'
(R):5'- AGTGTCCACTGTGAGACCATTC -3'
Posted On 2013-04-16