Mutagenetix > Incidental Mutation

Incidental Mutation 'R2358:Tectb'

247047

Institutional Source

Beutler Lab

Gene Symbol

Tectb

Ensembl Gene

ENSMUSG00000024979

Gene Name

tectorin beta

Synonyms

[b]-tectorin, Tctnb

MMRRC Submission

040340-MU

Accession Numbers

Essential gene?

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

Stock #

R2358 (G1)

Quality Score

225

Status

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: 97.3%
20x: 95.1%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	CGG	CG	5: 124,077,305		probably null	Het
Aif1l	T	A	2: 31,969,751	F94L	probably damaging	Het
Ankzf1	C	T	1: 75,195,251	H209Y	probably damaging	Het
Ate1	A	T	7: 130,516,165	M30K	probably damaging	Het
Cd27	A	G	6: 125,233,318	Y189H	probably damaging	Het
Cela1	A	G	15: 100,681,228	I183T	probably benign	Het
Copg2	A	T	6: 30,826,233	L259*	probably null	Het
Efcab7	T	A	4: 99,831,586		probably benign	Het
Fcrl5	A	G	3: 87,446,419	E357G	probably damaging	Het
Fzr1	C	T	10: 81,367,640		probably null	Het
Gm10696	G	A	3: 94,175,547	A319V	possibly damaging	Het
Gm10696	C	A	3: 94,175,548	A319S	possibly damaging	Het
Il12rb2	C	T	6: 67,298,195	A649T	probably damaging	Het
Itfg1	C	A	8: 85,738,129	V438F	probably damaging	Het
Jaml	A	C	9: 45,101,063	I283L	possibly damaging	Het
Kif28	A	T	1: 179,709,459	H486Q	probably damaging	Het
Lrch4	A	G	5: 137,638,548		probably benign	Het
Lrfn2	A	G	17: 49,071,160	E423G	possibly damaging	Het
Lrp4	T	A	2: 91,501,954	N1665K	probably benign	Het
Mrpl32	A	T	13: 14,610,580	V157E	probably damaging	Het
Mta3	A	G	17: 83,762,988	I193V	probably damaging	Het
Myom2	G	A	8: 15,112,018	V984I	possibly damaging	Het
Nedd4l	G	A	18: 65,209,719	V909I	possibly damaging	Het
Nlrp4a	A	G	7: 26,464,198	D930G	probably benign	Het
Olfr121	T	A	17: 37,752,380	C175*	probably null	Het
Olfr1351	T	C	10: 79,018,188	F289L	probably damaging	Het
Olfr74	A	T	2: 87,973,722	N314K	probably benign	Het
Ovch2	A	T	7: 107,794,915	H110Q	probably damaging	Het
Pcnx3	G	A	19: 5,683,339	Q155*	probably null	Het
Pcnx3	C	G	19: 5,683,340	L1F	probably null	Het
Pi4k2a	G	A	19: 42,090,692	R64Q	probably damaging	Het
Ptpn12	G	A	5: 20,998,692	P363S	probably damaging	Het
Rbm27	T	C	18: 42,292,112		probably benign	Het
Ripor3	A	G	2: 167,983,865		probably benign	Het
Rpl13-ps3	A	G	14: 58,893,816		noncoding transcript	Het
Sap18b	G	A	8: 95,825,563	R67H	probably benign	Het
Sdhb	T	C	4: 140,973,000	V137A	probably damaging	Het
Shmt2	T	C	10: 127,518,028	T459A	probably benign	Het
Siglecg	A	G	7: 43,409,422	S200G	possibly damaging	Het
Slc6a15	T	G	10: 103,416,785	I603S	probably benign	Het
Smtn	A	T	11: 3,532,865		probably null	Het
Spata31d1a	G	A	13: 59,703,888	S142L	probably benign	Het
Spopl	C	T	2: 23,537,380	R221Q	probably damaging	Het
St5	A	T	7: 109,556,446	S366T	probably benign	Het
Strip1	A	G	3: 107,615,819	V633A	probably benign	Het
Sun2	A	G	15: 79,727,913	S522P	possibly damaging	Het
Terb2	T	A	2: 122,198,432	C157S	probably benign	Het
Themis	T	A	10: 28,863,380	N615K	possibly damaging	Het
Tlnrd1	A	T	7: 83,882,280	D314E	probably benign	Het
Vmn1r205	T	A	13: 22,592,396	T179S	probably benign	Het
Vsig10l	G	A	7: 43,468,761	R689H	probably benign	Het
Wt1	G	A	2: 105,163,428		probably benign	Het
Zfp423	G	T	8: 87,780,551	A1034D	possibly damaging	Het
Zfy2	T	C	Y: 2,107,272	E454G	possibly damaging	Het
Zyg11a	G	T	4: 108,196,146	Q440K	possibly damaging	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
R2161: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
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'- GGAAAGTCTGATTGGCACTGG -3'

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

Posted On

2014-10-30