Mutagenetix > Incidental Mutation

Incidental Mutation 'R6859:Tecta'

537814

Institutional Source

Beutler Lab

Gene Symbol

Tecta

Ensembl Gene

ENSMUSG00000037705

Gene Name

tectorin alpha

Synonyms

[a]-tectorin, Tctna

MMRRC Submission

044961-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R6859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42240915-42311225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42303425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 69 (N69S)

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: N69S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040262
Gene: ENSMUSG00000037705
AA Change: N69S

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

probably damaging
Transcript: ENSMUST00000160940
AA Change: N69S

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

SMART Domains

Protein: ENSMUSP00000125370
Gene: ENSMUSG00000037705
AA Change: N69S

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

Meta Mutation Damage Score

0.0922

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (42/42)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,669,799 (GRCm39)	V788A	possibly damaging	Het
Abca15	A	T	7: 120,002,217 (GRCm39)	K1577*	probably null	Het
Arhgap12	T	C	18: 6,111,803 (GRCm39)	E187G	probably damaging	Het
Arhgef10	T	A	8: 15,025,005 (GRCm39)	Y398N	probably damaging	Het
Baz2b	C	T	2: 59,731,874 (GRCm39)	V2055I	probably benign	Het
Btnl4	T	C	17: 34,688,353 (GRCm39)	D475G	probably damaging	Het
C1qtnf12	T	A	4: 156,050,070 (GRCm39)	F190Y	probably damaging	Het
Cacul1	A	G	19: 60,522,683 (GRCm39)	S284P	probably damaging	Het
Ccdc166	C	A	15: 75,853,820 (GRCm39)	V87L	possibly damaging	Het
Ceacam13	C	T	7: 17,747,032 (GRCm39)	P162S	probably damaging	Het
Cep250	T	A	2: 155,834,446 (GRCm39)	S2124T	probably benign	Het
Chd5	T	C	4: 152,462,664 (GRCm39)	S1372P	probably damaging	Het
Chil3	C	A	3: 106,067,730 (GRCm39)	R145L	probably benign	Het
Cyp4f40	T	C	17: 32,894,923 (GRCm39)	S454P	probably benign	Het
Defa3	T	A	8: 21,778,213 (GRCm39)	C66S	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Glmp	C	A	3: 88,235,349 (GRCm39)	N260K	probably benign	Het
Gsap	T	A	5: 21,486,016 (GRCm39)	L653Q	probably damaging	Het
Il18rap	T	A	1: 40,564,255 (GRCm39)	Y124*	probably null	Het
Lao1	A	C	4: 118,820,948 (GRCm39)	K58T	probably damaging	Het
Lepr	T	A	4: 101,622,487 (GRCm39)		probably null	Het
Mrgpra3	G	C	7: 47,239,781 (GRCm39)	I48M	probably benign	Het
Nck2	T	G	1: 43,593,511 (GRCm39)	N239K	probably benign	Het
Optc	A	T	1: 133,825,554 (GRCm39)	V324E	possibly damaging	Het
Or12k7	A	T	2: 36,958,794 (GRCm39)	Y159F	probably damaging	Het
Or4p8	A	G	2: 88,727,278 (GRCm39)	I221T	probably benign	Het
Or51b6	G	A	7: 103,555,908 (GRCm39)	W84*	probably null	Het
Otog	T	C	7: 45,923,205 (GRCm39)	S1027P	probably damaging	Het
Plbd2	A	G	5: 120,641,407 (GRCm39)	F84L	probably benign	Het
Plxnb1	T	C	9: 108,935,838 (GRCm39)	L110P	probably damaging	Het
Prnp	T	C	2: 131,778,708 (GRCm39)	V120A	possibly damaging	Het
Ptprh	C	A	7: 4,552,370 (GRCm39)	E965*	probably null	Het
Reln	T	C	5: 22,239,568 (GRCm39)	T900A	probably damaging	Het
Stt3a	A	G	9: 36,646,682 (GRCm39)	Y644H	probably damaging	Het
Sulf2	A	G	2: 165,929,039 (GRCm39)	Y311H	probably damaging	Het
Tbc1d32	A	T	10: 56,056,626 (GRCm39)	I438N	probably damaging	Het
Tbcd	T	C	11: 121,387,937 (GRCm39)	V356A	possibly damaging	Het
Topaz1	T	C	9: 122,631,023 (GRCm39)	V1618A	probably benign	Het
Usp48	C	T	4: 137,352,587 (GRCm39)	T627I	possibly damaging	Het
Vcl	T	C	14: 21,037,143 (GRCm39)	V247A	probably damaging	Het
Vmn2r59	A	G	7: 41,693,277 (GRCm39)	L441P	probably damaging	Het
Zfp869	C	T	8: 70,159,175 (GRCm39)	G466D	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
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
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
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'- GCAGAGAAGGTGGTCATGTC -3'
(R):5'- CCAATGAGCGTGTCCAGTAG -3'

Sequencing Primer
(F):5'- AAGTACTTCCTGATGTCCTTGG -3'
(R):5'- TCCAGTAGGAAACAAACCTTCTC -3'

Posted On

2018-10-18