Mutagenetix > Incidental Mutation

Incidental Mutation 'R4378:Tecta'

325198

Institutional Source

Beutler Lab

Gene Symbol

Tecta

Ensembl Gene

ENSMUSG00000037705

Gene Name

tectorin alpha

Synonyms

[a]-tectorin, Tctna

MMRRC Submission

041121-MU

Accession Numbers

Essential gene?

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

Stock #

R4378 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42240915-42311225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42278004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1168 (Y1168C)

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: Y1168C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040262
Gene: ENSMUSG00000037705
AA Change: Y1168C

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: Y1168C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125370
Gene: ENSMUSG00000037705
AA Change: Y1168C

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

0.6645

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (47/49)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,243,644 (GRCm39)	K1836E	probably benign	Het
Adora1	A	G	1: 134,130,948 (GRCm39)	F241S	probably damaging	Het
Akt1s1	C	T	7: 44,503,384 (GRCm39)	T168M	probably damaging	Het
Amigo1	C	T	3: 108,099,069 (GRCm39)		probably benign	Het
Amigo2	A	G	15: 97,143,859 (GRCm39)	F188L	possibly damaging	Het
Armc2	T	C	10: 41,869,078 (GRCm39)	T29A	possibly damaging	Het
Axl	G	A	7: 25,458,262 (GRCm39)	A822V	probably benign	Het
Borcs5	T	C	6: 134,621,292 (GRCm39)	V21A	probably benign	Het
Cdc42ep3	A	G	17: 79,642,408 (GRCm39)	S171P	probably benign	Het
Cmas	T	C	6: 142,718,011 (GRCm39)		probably benign	Het
Cyp4f40	A	G	17: 32,887,003 (GRCm39)	N158S	probably null	Het
Dnah6	G	T	6: 73,095,009 (GRCm39)	N2139K	probably benign	Het
Elmo1	A	T	13: 20,557,286 (GRCm39)	H409L	possibly damaging	Het
Exoc1l	A	G	5: 76,648,380 (GRCm39)	K62R	probably damaging	Het
Exoc4	T	A	6: 33,792,622 (GRCm39)	V584E	probably damaging	Het
Gm9116	A	G	3: 93,817,786 (GRCm39)		noncoding transcript	Het
Gxylt2	A	G	6: 100,710,161 (GRCm39)	S101G	probably benign	Het
Hsph1	C	A	5: 149,559,472 (GRCm39)	E24*	probably null	Het
Ighv1-56	C	T	12: 115,206,568 (GRCm39)	E50K	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrriq1	A	T	10: 103,038,225 (GRCm39)	D859E	probably damaging	Het
Mapk7	G	A	11: 61,384,493 (GRCm39)	S71L	probably damaging	Het
Nars1	A	G	18: 64,634,424 (GRCm39)	Y500H	probably damaging	Het
Or1j1	T	C	2: 36,702,481 (GRCm39)	M208V	probably benign	Het
Or5d20-ps1	G	T	2: 87,931,829 (GRCm39)	N167K	unknown	Het
Phc1	T	C	6: 122,311,966 (GRCm39)	N64S	possibly damaging	Het
Ppp4r3b	T	A	11: 29,159,450 (GRCm39)	N180K	possibly damaging	Het
Primpol	G	A	8: 47,029,218 (GRCm39)		probably benign	Het
Prtg	T	C	9: 72,750,042 (GRCm39)	S149P	possibly damaging	Het
Qrich2	T	C	11: 116,337,741 (GRCm39)	S1916G	probably damaging	Het
Rps6ka5	A	T	12: 100,564,196 (GRCm39)	Y218N	probably damaging	Het
Setbp1	T	C	18: 78,899,833 (GRCm39)	D1278G	possibly damaging	Het
Sirt1	C	T	10: 63,174,728 (GRCm39)	A8T	probably benign	Het
Sobp	C	T	10: 42,897,300 (GRCm39)	V762I	probably damaging	Het
Sptan1	T	C	2: 29,915,581 (GRCm39)	S1994P	probably damaging	Het
Taok3	T	C	5: 117,347,636 (GRCm39)	I87T	probably damaging	Het
Trhr	A	G	15: 44,061,023 (GRCm39)	Y181C	probably damaging	Het
Ube4b	C	T	4: 149,468,255 (GRCm39)	D174N	probably damaging	Het
Ubr4	C	T	4: 139,137,751 (GRCm39)	H1067Y	possibly damaging	Het
Vmn2r86	A	G	10: 130,288,469 (GRCm39)	I344T	possibly damaging	Het
Vmn2r88	T	A	14: 51,650,746 (GRCm39)	L153*	probably null	Het
Zfp516	T	A	18: 83,005,305 (GRCm39)	D736E	probably benign	Het
Zfp612	G	T	8: 110,815,683 (GRCm39)	V258F	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
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
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'- AGGCCTCTCTTTTGTAACACACTATG -3'
(R):5'- GTGGCTTGTACTACTGCCAG -3'

Sequencing Primer
(F):5'- GTAACACACTATGATTGCCTTTGG -3'
(R):5'- GTATCGTCTCAGGCTATGGTCAC -3'

Posted On

2015-07-06