Mutagenetix > Incidental Mutations

Incidental Mutation 'R2162:Tectb'

235243

Institutional Source

Beutler Lab

Gene Symbol

Tectb

Ensembl Gene

ENSMUSG00000024979

Gene Name

tectorin beta

Synonyms

[b]-tectorin, Tctnb

MMRRC Submission

040165-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R2162 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

55180733-55196313 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to G at 55180999 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121767 (fasta)

Gene Model

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

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: 97.5%
20x: 95.6%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,972,238	T524A	possibly damaging	Het
Adamts20	A	C	15: 94,331,458	C927G	probably damaging	Het
Afdn	T	A	17: 13,896,174	D190E	probably benign	Het
Ankrd28	T	C	14: 31,708,762	D850G	probably damaging	Het
Arhgap45	T	C	10: 80,016,979	M1T	probably null	Het
Atp6v0a4	T	G	6: 38,088,646	K128N	possibly damaging	Het
Bcat1	T	A	6: 145,010,108	D349V	probably damaging	Het
Cacna1i	T	C	15: 80,356,187	F370S	probably damaging	Het
Clca4b	T	C	3: 144,928,587	I82V	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cyfip2	T	C	11: 46,261,506	D485G	probably benign	Het
Cyp27b1	G	T	10: 127,051,060	V382L	probably damaging	Het
Dnaaf5	T	C	5: 139,181,565	V447A	possibly damaging	Het
Dpp9	A	T	17: 56,199,113	F429I	possibly damaging	Het
Eng	C	T	2: 32,679,047	R528C	probably damaging	Het
Gcn1l1	A	T	5: 115,592,132	Q835L	probably benign	Het
Gprc6a	CAAA	CA	10: 51,615,680		probably null	Het
Hlx	T	A	1: 184,730,692		probably null	Het
Htt	T	A	5: 34,821,718	V815D	probably benign	Het
Il1f5	G	T	2: 24,279,680	L17F	probably damaging	Het
Itga1	C	T	13: 115,030,910	V157I	probably benign	Het
Krtap19-3	T	G	16: 88,877,719	*88C	probably null	Het
Lzic	G	C	4: 149,488,728	E112D	probably null	Het
Mark2	G	C	19: 7,282,747	S111C	probably damaging	Het
Mep1b	C	T	18: 21,086,239	T150I	possibly damaging	Het
Mroh7	G	C	4: 106,700,181	S777R	probably damaging	Het
Nrxn1	G	A	17: 90,162,431	R35C	probably damaging	Het
Olfr1145	T	A	2: 87,810,360	I180K	probably damaging	Het
Olfr494	C	A	7: 108,367,562	P24Q	probably benign	Het
Olfr624	T	G	7: 103,670,872	Q53P	possibly damaging	Het
Pacs2	A	G	12: 113,050,947	T243A	probably benign	Het
Pan2	A	G	10: 128,304,222	E4G	possibly damaging	Het
Pdp1	A	G	4: 11,961,123	V396A	probably damaging	Het
Pdzd7	A	G	19: 45,036,055		probably null	Het
Peg10	T	A	6: 4,755,914		probably benign	Het
Pgc	C	A	17: 47,729,311	F93L	probably null	Het
Piezo2	A	G	18: 63,081,662		probably null	Het
Pja2	T	C	17: 64,309,402	D166G	probably benign	Het
Ppp1r9b	T	C	11: 94,998,051	L97P	probably damaging	Het
Ptgir	A	G	7: 16,906,869	M29V	possibly damaging	Het
S100a10	T	C	3: 93,564,373	V88A	probably damaging	Het
Scn9a	T	A	2: 66,534,229	Y789F	probably damaging	Het
Slit3	A	T	11: 35,688,682	S1229C	probably null	Het
Sptan1	T	C	2: 30,018,576		probably benign	Het
Srrd	G	T	5: 112,342,944		probably benign	Het
Tdrd3	A	G	14: 87,480,785	T201A	probably damaging	Het
Ttll4	A	G	1: 74,686,391	K653E	probably damaging	Het
Usp43	A	G	11: 67,879,969	L613P	probably damaging	Het
Vmn1r167	T	C	7: 23,504,799	D264G	possibly damaging	Het
Whamm	A	G	7: 81,571,341	D7G	probably damaging	Het
Zcchc17	T	C	4: 130,338,524	D62G	probably benign	Het
Zfp280d	T	A	9: 72,298,822	I62K	probably damaging	Het
Zfp445	T	G	9: 122,852,476	E800A	probably damaging	Het
Zfp516	A	G	18: 82,986,938	R656G	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
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
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

Predicted Primers

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

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

Posted On

2014-10-01