Mutagenetix > Incidental Mutation

Incidental Mutation 'R3407:Tecta'

258326

Institutional Source

Beutler Lab

Gene Symbol

Tecta

Ensembl Gene

ENSMUSG00000037705

Gene Name

tectorin alpha

Synonyms

[a]-tectorin, Tctna

MMRRC Submission

040625-MU

Accession Numbers

Essential gene?

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

Stock #

R3407 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42240915-42311225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42249150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1904 (I1904N)

Ref Sequence

ENSEMBL: ENSMUSP00000040262 (fasta)

Gene Model

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

AlphaFold

O08523

Predicted Effect

probably damaging
Transcript: ENSMUST00000042190
AA Change: I1904N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040262
Gene: ENSMUSG00000037705
AA Change: I1904N

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: I1899N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125370
Gene: ENSMUSG00000037705
AA Change: I1899N

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.3%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg4	A	T	X: 56,013,487 (GRCm39)	I2838F	probably damaging	Het
Agbl2	G	A	2: 90,621,962 (GRCm39)	V150I	probably damaging	Het
Ambra1	T	C	2: 91,740,652 (GRCm39)	S924P	probably damaging	Het
Arfgap3	T	C	15: 83,206,808 (GRCm39)	D260G	probably benign	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,147,493 (GRCm39)		probably null	Het
Bag3	TAAAG	TAAAGAAAG	7: 128,147,492 (GRCm39)		probably null	Het
Cacnb3	T	C	15: 98,539,068 (GRCm39)	V167A	probably benign	Het
Carm1	C	T	9: 21,497,478 (GRCm39)	R347W	probably damaging	Het
Ccdc30	A	T	4: 119,181,778 (GRCm39)	F577I	possibly damaging	Het
Ces3a	T	A	8: 105,777,199 (GRCm39)	V174E	probably damaging	Het
Cobl	T	C	11: 12,325,830 (GRCm39)	Y215C	probably damaging	Het
Cybrd1	A	T	2: 70,948,470 (GRCm39)	M3L	probably damaging	Het
Dis3	A	G	14: 99,336,212 (GRCm39)	V98A	probably benign	Het
Dsg1c	G	A	18: 20,415,115 (GRCm39)		probably null	Het
Eif4a1	A	T	11: 69,561,089 (GRCm39)	V72E	probably damaging	Het
Fmn1	A	T	2: 113,195,400 (GRCm39)	I367F	unknown	Het
Fnbp1l	A	C	3: 122,345,799 (GRCm39)	W229G	probably damaging	Het
Inka1	C	T	9: 107,862,253 (GRCm39)	R23Q	probably damaging	Het
Ints6	A	T	14: 62,934,386 (GRCm39)	I707K	probably benign	Het
Ipo8	T	C	6: 148,723,207 (GRCm39)	D70G	probably benign	Het
Kif20b	T	C	19: 34,927,900 (GRCm39)	L1014P	probably damaging	Het
Kif9	T	C	9: 110,348,208 (GRCm39)	L677P	probably damaging	Het
Mbd1	A	G	18: 74,410,438 (GRCm39)	K414E	possibly damaging	Het
Mfsd1	T	A	3: 67,504,046 (GRCm39)	M346K	possibly damaging	Het
Mthfr	T	C	4: 148,139,518 (GRCm39)	I66T	probably damaging	Het
Myh10	T	G	11: 68,681,037 (GRCm39)	L989R	possibly damaging	Het
Ncan	G	A	8: 70,564,801 (GRCm39)	T271I	probably damaging	Het
Or10ag53	A	C	2: 87,083,243 (GRCm39)	T321P	probably benign	Het
Or9s23	A	G	1: 92,501,675 (GRCm39)	T261A	probably damaging	Het
Pate2	C	T	9: 35,582,262 (GRCm39)	T80I	probably damaging	Het
Pcdhb15	A	G	18: 37,607,442 (GRCm39)	T225A	possibly damaging	Het
Pde4dip	C	A	3: 97,661,784 (GRCm39)	L640F	probably damaging	Het
Plch1	A	G	3: 63,606,768 (GRCm39)		probably benign	Het
Pus3	C	T	9: 35,478,021 (GRCm39)	R418C	probably damaging	Het
Sall2	G	T	14: 52,565,561 (GRCm39)	N24K	probably benign	Het
Sh3bp4	G	T	1: 89,072,769 (GRCm39)	C539F	possibly damaging	Het
Smco3	A	G	6: 136,808,425 (GRCm39)	S150P	probably benign	Het
Spag17	G	T	3: 99,992,615 (GRCm39)	A1704S	probably benign	Het
Ttn	T	A	2: 76,536,281 (GRCm39)	K33280*	probably null	Het
Uggt2	T	C	14: 119,328,682 (GRCm39)	D90G	probably benign	Het
Vmn1r21	C	T	6: 57,820,877 (GRCm39)	G189D	probably damaging	Het
Zbtb10	A	G	3: 9,329,926 (GRCm39)	N428S	probably damaging	Het
Zfp407	G	A	18: 84,576,997 (GRCm39)	A1372V	probably benign	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
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'- TCAGAAAGCAAGCCTTCTGG -3'
(R):5'- AAGCCATTTCTCTATAATTCCGGG -3'

Sequencing Primer
(F):5'- AGCAAGCCTTCTGGTCATTTAG -3'
(R):5'- CCATTTCTCTATAATTCCGGGAGATG -3'

Posted On

2015-01-23