Mutagenetix > Incidental Mutation

Incidental Mutation 'R0584:Tecta'

56561

Institutional Source

Beutler Lab

Gene Symbol

Tecta

Ensembl Gene

ENSMUSG00000037705

Gene Name

tectorin alpha

Synonyms

[a]-tectorin, Tctna

MMRRC Submission

038774-MU

Accession Numbers

Essential gene?

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

Stock #

R0584 (G1)

Quality Score

153

Status

Validated

Chromosome

Chromosomal Location

42240915-42311225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42259204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 1560 (N1560D)

Ref Sequence

ENSEMBL: ENSMUSP00000125370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042190] [ENSMUST00000160940]

AlphaFold

O08523

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042190
AA Change: N1560D

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040262
Gene: ENSMUSG00000037705
AA Change: N1560D

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

possibly damaging
Transcript: ENSMUST00000160940
AA Change: N1560D

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125370
Gene: ENSMUSG00000037705
AA Change: N1560D

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

0.1010

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.2%
20x: 93.7%

Validation Efficiency

98% (47/48)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,847,564 (GRCm39)	S1745P	probably damaging	Het
Agfg2	G	A	5: 137,665,992 (GRCm39)	T89I	probably damaging	Het
Agtr1a	A	G	13: 30,565,017 (GRCm39)	I27M	probably damaging	Het
Armh1	A	T	4: 117,087,047 (GRCm39)	L206Q	probably damaging	Het
Asxl2	A	T	12: 3,546,632 (GRCm39)	E472V	probably damaging	Het
Atp2c2	T	A	8: 120,465,157 (GRCm39)	V313E	probably benign	Het
Casp12	A	G	9: 5,352,268 (GRCm39)	I87V	probably null	Het
Ccl25	C	T	8: 4,404,085 (GRCm39)		probably benign	Het
Col9a1	T	C	1: 24,263,571 (GRCm39)		probably benign	Het
Cyth4	A	G	15: 78,494,078 (GRCm39)		probably null	Het
Dnah9	A	G	11: 65,881,315 (GRCm39)	Y2587H	probably damaging	Het
Dppa3	T	C	6: 122,606,951 (GRCm39)	I147T	probably benign	Het
Fam120b	T	C	17: 15,622,384 (GRCm39)	S121P	probably damaging	Het
Fam209	C	T	2: 172,316,081 (GRCm39)	T152M	probably benign	Het
Fam98a	A	G	17: 75,851,772 (GRCm39)	L103P	probably damaging	Het
Fcho1	T	C	8: 72,168,369 (GRCm39)	Y218C	probably damaging	Het
Fitm1	T	C	14: 55,814,113 (GRCm39)	V203A	probably benign	Het
Gcn1	G	A	5: 115,733,074 (GRCm39)	R1037Q	probably damaging	Het
Gm11563	A	G	11: 99,549,451 (GRCm39)	I101T	unknown	Het
Gpd1l	A	G	9: 114,743,412 (GRCm39)	F163L	probably damaging	Het
Grp	C	A	18: 66,006,766 (GRCm39)	A30E	possibly damaging	Het
H1f7	C	A	15: 98,154,958 (GRCm39)	E64*	probably null	Het
Icosl	T	C	10: 77,907,709 (GRCm39)	Y90H	possibly damaging	Het
Itsn2	A	G	12: 4,747,180 (GRCm39)	T1194A	probably benign	Het
Lrp6	A	G	6: 134,433,039 (GRCm39)	S1431P	probably damaging	Het
Ltbp1	T	C	17: 75,670,467 (GRCm39)	S1503P	probably damaging	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Myh13	G	T	11: 67,251,200 (GRCm39)	E1360*	probably null	Het
Nop58	A	G	1: 59,745,919 (GRCm39)	D400G	probably benign	Het
Or5p79	T	C	7: 108,221,622 (GRCm39)	L201P	probably benign	Het
Or6c205	T	C	10: 129,086,817 (GRCm39)	V138A	probably benign	Het
Oscp1	A	G	4: 125,977,387 (GRCm39)		probably null	Het
Pde9a	A	T	17: 31,678,951 (GRCm39)	Y264F	probably damaging	Het
Pkhd1	T	A	1: 20,309,660 (GRCm39)	K2763*	probably null	Het
Prkci	T	A	3: 31,079,289 (GRCm39)	C42*	probably null	Het
Ptprr	T	C	10: 116,087,063 (GRCm39)	V270A	probably damaging	Het
Rsf1	T	A	7: 97,311,335 (GRCm39)	N688K	possibly damaging	Het
S1pr3	A	T	13: 51,573,697 (GRCm39)	M293L	probably benign	Het
Scn10a	A	C	9: 119,499,597 (GRCm39)	L232R	probably damaging	Het
Sirt5	T	A	13: 43,548,204 (GRCm39)		probably null	Het
Sp6	C	T	11: 96,913,091 (GRCm39)	T268M	probably damaging	Het
Spag5	A	G	11: 78,194,921 (GRCm39)	N76S	possibly damaging	Het
Togaram1	T	C	12: 65,014,279 (GRCm39)	L510P	probably damaging	Het
Umps	A	G	16: 33,779,494 (GRCm39)	I401T	probably damaging	Het
Vars2	A	G	17: 35,977,578 (GRCm39)	V118A	possibly 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
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'- TTCGGAAGCATCAGCGACAGAG -3'
(R):5'- CCACGCCAATGCAAGTCAGATGAG -3'

Sequencing Primer
(F):5'- GGCAGTGGCCCACTCTTATAC -3'
(R):5'- TTCCGCACGTTCGATGG -3'

Posted On

2013-07-11