Mutagenetix > Incidental Mutations

Incidental Mutation 'R6315:Tectb'

510628

Institutional Source

Beutler Lab

Gene Symbol

Tectb

Ensembl Gene

ENSMUSG00000024979

Gene Name

tectorin beta

Synonyms

[b]-tectorin, Tctnb

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R6315 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55180733-55196313 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55191472 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 250 (H250R)

Ref Sequence

ENSEMBL: ENSMUSP00000113805 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025936
AA Change: H240R

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025936
Gene: ENSMUSG00000024979
AA Change: H240R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120936
AA Change: H250R

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113805
Gene: ENSMUSG00000024979
AA Change: H250R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123763

Predicted Effect

unknown
Transcript: ENSMUST00000124545
AA Change: H73R

SMART Domains

Protein: ENSMUSP00000117645
Gene: ENSMUSG00000024979
AA Change: H73R

Domain	Start	End	E-Value	Type
Pfam:Zona_pellucida	3	116	5.9e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148123

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184990

Meta Mutation Damage Score

0.3118

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (64/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 120,346,092	Y464H	probably damaging	Het
Ahnak	T	C	19: 9,006,626	M1758T	probably damaging	Het
Ak9	A	T	10: 41,406,841	D1201V	possibly damaging	Het
Amdhd2	A	C	17: 24,158,356	H203Q	probably benign	Het
Ano3	A	G	2: 110,697,039	M608T	probably damaging	Het
Arhgef4	G	A	1: 34,723,477	A605T	unknown	Het
Atp1a2	C	G	1: 172,289,336	R238P	probably damaging	Het
Atp8b1	C	A	18: 64,531,479	R1206L	probably damaging	Het
B4galt5	A	T	2: 167,305,809	N215K	probably damaging	Het
Bpifa1	A	G	2: 154,146,076	K180E	possibly damaging	Het
Cadm1	C	T	9: 47,810,119	T269M	probably damaging	Het
Cadm3	T	C	1: 173,344,352	D252G	probably benign	Het
Ccdc18	A	G	5: 108,161,582	R348G	probably benign	Het
Cers4	G	A	8: 4,516,980	C94Y	probably benign	Het
Cfap58	G	A	19: 47,941,277	R59H	probably benign	Het
Col19a1	C	T	1: 24,526,452	G266D	unknown	Het
Col6a5	G	T	9: 105,881,970	F2012L	probably damaging	Het
Dnah6	T	C	6: 73,191,605	Q445R	probably benign	Het
Dsg3	A	G	18: 20,524,586	S238G	probably benign	Het
E130308A19Rik	G	A	4: 59,691,132	S322N	probably benign	Het
Eif5b	A	G	1: 38,018,033	D57G	unknown	Het
Fbn2	T	C	18: 58,054,953		probably null	Het
Fbxo38	A	T	18: 62,536,147	C77*	probably null	Het
Fgb	T	A	3: 83,045,055	Q169L	probably benign	Het
Fut9	A	T	4: 25,619,774	Y347N	probably damaging	Het
Gabrg2	T	C	11: 41,971,861	K132R	probably damaging	Het
Gpn3	C	T	5: 122,372,575		probably benign	Het
Helz2	A	G	2: 181,233,202	L1833P	probably damaging	Het
Hk3	C	T	13: 55,011,157	D484N	probably benign	Het
Icam4	T	C	9: 21,029,952	V129A	probably damaging	Het
Impdh2	T	C	9: 108,563,439	S280P	possibly damaging	Het
Impg1	C	A	9: 80,394,074	G267V	probably benign	Het
Iqgap1	C	T	7: 80,799,890	V39M	possibly damaging	Het
Lyst	A	G	13: 13,643,504	N1253S	probably benign	Het
Mgat4b	T	A	11: 50,231,764	V195E	probably damaging	Het
Mrgprb8	C	T	7: 48,389,235	T218I	probably damaging	Het
Myrfl	T	G	10: 116,822,819	E411A	possibly damaging	Het
Myt1l	T	C	12: 29,827,798	S483P	unknown	Het
Neil2	A	G	14: 63,183,471	V80A	possibly damaging	Het
Nfe2l2	G	T	2: 75,676,819	D312E	probably damaging	Het
Nin	A	T	12: 70,045,615	L640Q	probably damaging	Het
Nup205	T	A	6: 35,236,869	I1732N	probably damaging	Het
Nupl2	T	C	5: 24,167,504	S97P	probably damaging	Het
Olfr1468-ps1	T	C	19: 13,375,405	C148R	unknown	Het
Olfr180	A	C	16: 58,916,246	Y132D	probably damaging	Het
Plcb1	A	T	2: 135,346,341	T785S	probably benign	Het
Plch1	C	T	3: 63,781,390	W131*	probably null	Het
Ppp1r1b	A	G	11: 98,355,390	E66G	probably damaging	Het
Ros1	A	T	10: 52,118,210	W1325R	probably benign	Het
Sec14l5	A	C	16: 5,180,277	E500A	possibly damaging	Het
Sirpb1c	A	G	3: 15,832,306	V302A	possibly damaging	Het
Spata19	T	C	9: 27,400,837	Y107H	possibly damaging	Het
Sv2a	G	A	3: 96,188,186	M298I	probably benign	Het
Tdrd6	A	T	17: 43,626,338	M1273K	probably benign	Het
Trip11	T	G	12: 101,885,578	E742D	possibly damaging	Het
Tslp	A	G	18: 32,817,090	T71A	probably benign	Het
Usp20	C	T	2: 31,017,758	R711C	possibly damaging	Het
Vmn1r181	G	A	7: 23,984,758	R216Q	probably benign	Het
Vmn2r8	A	T	5: 108,801,891	F363L	probably benign	Het
Vsnl1	T	A	12: 11,332,155	N75I	probably damaging	Het
Wdr55	A	T	18: 36,762,069	D96V	probably damaging	Het
Wls	T	A	3: 159,934,371		probably null	Het
Zc3h13	A	G	14: 75,308,915	D152G	probably damaging	Het
Zc3h18	A	G	8: 122,383,865	E151G	probably benign	Het
Zfat	A	G	15: 68,084,462	S1174P	probably damaging	Het
Zfyve9	T	A	4: 108,674,488	T416S	probably 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
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
R6366:Tectb	UTSW	19	55181918	missense	probably damaging	1.00
R7729:Tectb	UTSW	19	55192672	missense

Predicted Primers

PCR Primer
(F):5'- AATCACATCCATTCCCGTGG -3'
(R):5'- ATCAAATCCGGCTCCTCCAG -3'

Sequencing Primer
(F):5'- TGTCATCGACCTCACACTTAGAG -3'
(R):5'- GGCTCCTCCAGTCCCAG -3'

Posted On

2018-04-02