Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01284:Tecta'

72645

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01284

Quality Score

Status

Chromosome

Chromosomal Location

42240915-42311225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42256916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1587 (F1587L)

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: F1587L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040262
Gene: ENSMUSG00000037705
AA Change: F1587L

Domain	Start	End	E-Value	Type
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: F1587L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125370
Gene: ENSMUSG00000037705
AA Change: F1587L

Domain	Start	End	E-Value	Type
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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	T	6: 86,827,035 (GRCm39)	M1L	possibly damaging	Het
Agr2	A	G	12: 36,045,580 (GRCm39)	D22G	possibly damaging	Het
C9orf72	A	T	4: 35,218,808 (GRCm39)	I17N	probably damaging	Het
Cck	G	T	9: 121,319,236 (GRCm39)	N82K	probably benign	Het
Cdh23	A	T	10: 60,301,876 (GRCm39)	I402N	possibly damaging	Het
Cfap157	T	C	2: 32,671,491 (GRCm39)	D105G	possibly damaging	Het
Dhx9	C	A	1: 153,340,644 (GRCm39)	L665F	probably damaging	Het
Dlg5	T	C	14: 24,196,265 (GRCm39)	E1621G	probably damaging	Het
Dst	A	G	1: 34,203,009 (GRCm39)	Y713C	probably damaging	Het
Fbp2	T	C	13: 62,988,099 (GRCm39)	S271G	probably benign	Het
Gp5	G	T	16: 30,128,028 (GRCm39)	S215R	probably benign	Het
Kpnb1	A	G	11: 97,056,928 (GRCm39)	M647T	probably damaging	Het
Masp2	A	G	4: 148,698,464 (GRCm39)	E515G	probably damaging	Het
Mfge8	A	G	7: 78,786,530 (GRCm39)	S290P	probably damaging	Het
Negr1	C	T	3: 156,851,854 (GRCm39)	P219S	probably damaging	Het
Nkx2-6	T	C	14: 69,409,326 (GRCm39)	S26P	probably benign	Het
Or10a49	C	T	7: 108,467,482 (GRCm39)	R293K	possibly damaging	Het
Pdzd9	A	C	7: 120,259,494 (GRCm39)	Y165D	possibly damaging	Het
Pik3ca	C	T	3: 32,516,733 (GRCm39)	A987V	probably damaging	Het
Pomp	T	A	5: 147,797,491 (GRCm39)		probably benign	Het
Rbm33	A	G	5: 28,615,707 (GRCm39)	T17A	probably damaging	Het
Skic2	T	C	17: 35,058,664 (GRCm39)		probably benign	Het
Slc4a4	G	A	5: 89,277,532 (GRCm39)	A334T	probably benign	Het
Tex29	C	A	8: 11,894,231 (GRCm39)	Y46*	probably null	Het
Tgm5	A	G	2: 120,883,028 (GRCm39)	S410P	possibly damaging	Het
Tmtc2	A	G	10: 105,107,372 (GRCm39)	Y714H	possibly damaging	Het
Tubgcp6	C	T	15: 88,994,258 (GRCm39)	R468Q	probably damaging	Het

Other mutations in Tecta

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2013-10-07