Mutagenetix > Incidental Mutation

Incidental Mutation 'R2161:Tectb'

235183

Institutional Source

Beutler Lab

Gene Symbol

Tectb

Ensembl Gene

ENSMUSG00000024979

Gene Name

tectorin beta

Synonyms

[b]-tectorin, Tctnb

MMRRC Submission

040164-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R2161 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55180733-55196313 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to G at 55180999 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025936] [ENSMUST00000120936] [ENSMUST00000154886]

AlphaFold

O08524

Predicted Effect

probably benign
Transcript: ENSMUST00000025936

SMART Domains

Protein: ENSMUSP00000025936
Gene: ENSMUSG00000024979

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
ZP	31	283	3.47e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120936

SMART Domains

Protein: ENSMUSP00000113805
Gene: ENSMUSG00000024979

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
ZP	31	293	1.9e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154886

SMART Domains

Protein: ENSMUSP00000121767
Gene: ENSMUSG00000024979

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
ZP	31	196	6.19e-2	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a non-collagenous glycoprotein component of the tectorial membrane, which covers the auditory hair cells in the cochlea of the inner ear. A similar protein in mouse functions in low-frequency hearing. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for a null allele show an enlarged tectorial membrane with a disrupted striated-sheet matrix, absence of the marginal band, and low-frequency hearing loss. However, basilar-membrane and neural tuning are both enhanced in high-frequency cochlear regions, with little loss in sensitivity. [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
6430573F11Rik	T	C	8: 36,505,650	C85R	probably damaging	Het
Adamts12	A	G	15: 11,215,735	M281V	probably damaging	Het
Ap1g1	A	T	8: 109,844,354	D423V	probably damaging	Het
Arel1	A	G	12: 84,921,256		probably null	Het
Arhgap33	T	C	7: 30,528,650		probably null	Het
Arhgef18	T	G	8: 3,439,575	Y302*	probably null	Het
Blm	T	C	7: 80,481,370		probably null	Het
Cep295	T	G	9: 15,353,058	E97D	probably damaging	Het
Cep295nl	T	C	11: 118,332,509	D503G	possibly damaging	Het
Chchd2	G	T	5: 129,884,148	A29E	probably damaging	Het
Cic	A	G	7: 25,288,134		probably null	Het
Cmtr1	C	T	17: 29,702,173	L798F	probably benign	Het
Col11a2	C	A	17: 34,064,797		probably benign	Het
Crispld2	A	G	8: 120,015,339	Y142C	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Dsp	G	A	13: 38,196,451	D1792N	probably damaging	Het
Esp4	C	A	17: 40,602,393	N50K	probably benign	Het
Fbxo21	T	C	5: 117,995,386	S404P	probably damaging	Het
Ggnbp2	A	G	11: 84,834,433	F639L	probably benign	Het
Golph3l	G	A	3: 95,617,125	G229D	probably damaging	Het
Hlx	G	T	1: 184,727,641	S433R	probably benign	Het
Kdm2b	T	A	5: 122,880,699	S233C	probably damaging	Het
Krt14	C	T	11: 100,207,113	G115R	unknown	Het
Ldb3	A	G	14: 34,567,396		probably null	Het
Lrp1	T	A	10: 127,555,738	E2937D	probably damaging	Het
Mark2	G	C	19: 7,282,747	S111C	probably damaging	Het
Naa20	T	A	2: 145,911,795		probably null	Het
Ndufa8	A	T	2: 36,036,515	W170R	probably damaging	Het
Nlrp2	A	T	7: 5,325,042	L671I	probably damaging	Het
Olfr1462	T	A	19: 13,191,309	I214K	probably damaging	Het
Olfr603	T	A	7: 103,383,200	R267S	probably benign	Het
Ptgir	A	G	7: 16,906,869	M29V	possibly damaging	Het
Ptpro	A	G	6: 137,449,887	D280G	probably benign	Het
Reps1	A	G	10: 18,096,283	E361G	probably damaging	Het
Rgs6	A	G	12: 83,091,804	E304G	probably damaging	Het
Siglece	T	C	7: 43,659,369	T187A	probably benign	Het
Slc5a10	C	T	11: 61,719,934	G5R	probably null	Het
Sohlh1	A	G	2: 25,844,636	I215T	probably benign	Het
Stag1	T	A	9: 100,889,595	V691D	probably damaging	Het
Tmed8	A	G	12: 87,174,257	V185A	probably damaging	Het
Trim71	A	G	9: 114,512,772	F814S	probably damaging	Het
Tsnax	A	T	8: 125,015,689	K52N	probably damaging	Het
Tubgcp3	T	C	8: 12,632,292	T676A	probably benign	Het

Other mutations in Tectb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01754:Tectb	APN	19	55184013	missense	probably damaging	1.00
IGL02001:Tectb	APN	19	55189595	missense	possibly damaging	0.48
IGL02510:Tectb	APN	19	55191511	missense	probably damaging	1.00
BB010:Tectb	UTSW	19	55194673	missense	possibly damaging	0.87
BB020:Tectb	UTSW	19	55194673	missense	possibly damaging	0.87
R0028:Tectb	UTSW	19	55194677	missense	probably benign	0.01
R0130:Tectb	UTSW	19	55181961	missense	probably damaging	0.99
R0586:Tectb	UTSW	19	55181924	missense	probably damaging	1.00
R0598:Tectb	UTSW	19	55189586	nonsense	probably null
R0655:Tectb	UTSW	19	55189870	missense	possibly damaging	0.78
R0708:Tectb	UTSW	19	55191552	missense	probably benign	0.37
R1314:Tectb	UTSW	19	55183985	missense	probably damaging	1.00
R1999:Tectb	UTSW	19	55180999	start gained	probably benign
R2000:Tectb	UTSW	19	55180999	start gained	probably benign
R2024:Tectb	UTSW	19	55181929	missense	probably damaging	1.00
R2148:Tectb	UTSW	19	55180999	start gained	probably benign
R2159:Tectb	UTSW	19	55180999	start gained	probably benign
R2160:Tectb	UTSW	19	55180999	start gained	probably benign
R2162:Tectb	UTSW	19	55180999	start gained	probably benign
R2355:Tectb	UTSW	19	55180999	start gained	probably benign
R2358:Tectb	UTSW	19	55180999	start gained	probably benign
R2495:Tectb	UTSW	19	55180999	start gained	probably benign
R2497:Tectb	UTSW	19	55180999	start gained	probably benign
R2511:Tectb	UTSW	19	55180999	start gained	probably benign
R2568:Tectb	UTSW	19	55180999	start gained	probably benign
R2570:Tectb	UTSW	19	55180999	start gained	probably benign
R2848:Tectb	UTSW	19	55180999	start gained	probably benign
R2897:Tectb	UTSW	19	55180999	start gained	probably benign
R2898:Tectb	UTSW	19	55180999	start gained	probably benign
R3712:Tectb	UTSW	19	55180999	start gained	probably benign
R5671:Tectb	UTSW	19	55192627	missense	probably benign	0.42
R5875:Tectb	UTSW	19	55189626	missense	possibly damaging	0.94
R6312:Tectb	UTSW	19	55192662	frame shift	probably null
R6315:Tectb	UTSW	19	55191472	missense	possibly damaging	0.73
R6366:Tectb	UTSW	19	55181918	missense	probably damaging	1.00
R7729:Tectb	UTSW	19	55192672	missense
R7933:Tectb	UTSW	19	55194673	missense	possibly damaging	0.87
R8408:Tectb	UTSW	19	55189667	critical splice donor site	probably null
R8557:Tectb	UTSW	19	55192673	unclassified	probably benign
R8835:Tectb	UTSW	19	55183838	missense	probably benign	0.43
R8918:Tectb	UTSW	19	55191568	missense	probably damaging	1.00
R8935:Tectb	UTSW	19	55194700	missense	probably benign
R9239:Tectb	UTSW	19	55192662	frame shift	probably null
R9345:Tectb	UTSW	19	55194665	missense	probably benign	0.00
R9467:Tectb	UTSW	19	55192661	missense

Predicted Primers

PCR Primer
(F):5'- AGCATCACCGAGCTCTCTTG -3'
(R):5'- GGAAAGTCTGATTGGCACTGGG -3'

Sequencing Primer
(F):5'- TCACCGAGCTCTCTTGGAAAC -3'
(R):5'- GCACTGGGGACTTCTGTTCC -3'

Posted On

2014-10-01