Mutagenetix > Incidental Mutation

Incidental Mutation 'R8182:Ush1c'

634675

Institutional Source

Beutler Lab

Gene Symbol

Ush1c

Ensembl Gene

ENSMUSG00000030838

Gene Name

USH1 protein network component harmonin

Synonyms

harmonin, 2010016F01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46195350-46238503 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 46198351 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000009667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009667] [ENSMUST00000078680] [ENSMUST00000143155] [ENSMUST00000154292] [ENSMUST00000176371] [ENSMUST00000177212]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000009667

SMART Domains

Protein: ENSMUSP00000009667
Gene: ENSMUSG00000030838

Domain	Start	End	E-Value	Type
PDZ	96	168	3.06e-19	SMART
low complexity region	190	203	N/A	INTRINSIC
PDZ	220	292	5.62e-18	SMART
coiled coil region	301	376	N/A	INTRINSIC
coiled coil region	419	478	N/A	INTRINSIC
low complexity region	515	529	N/A	INTRINSIC
low complexity region	562	596	N/A	INTRINSIC
low complexity region	600	612	N/A	INTRINSIC
PDZ	762	841	1.13e-13	SMART
low complexity region	846	860	N/A	INTRINSIC
low complexity region	899	910	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000078680

SMART Domains

Protein: ENSMUSP00000077747
Gene: ENSMUSG00000030838

Domain	Start	End	E-Value	Type
PDZ	96	168	3.06e-19	SMART
low complexity region	190	203	N/A	INTRINSIC
PDZ	220	292	5.62e-18	SMART
coiled coil region	301	376	N/A	INTRINSIC
PDZ	458	537	1.13e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143155

SMART Domains

Protein: ENSMUSP00000119676
Gene: ENSMUSG00000030838

Domain	Start	End	E-Value	Type
PDZ	96	168	3.06e-19	SMART
low complexity region	190	203	N/A	INTRINSIC
PDZ	220	292	5.62e-18	SMART
coiled coil region	301	376	N/A	INTRINSIC
coiled coil region	419	478	N/A	INTRINSIC
low complexity region	515	529	N/A	INTRINSIC
low complexity region	562	596	N/A	INTRINSIC
low complexity region	600	612	N/A	INTRINSIC
PDZ	762	841	1.13e-13	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000154292

SMART Domains

Protein: ENSMUSP00000114494
Gene: ENSMUSG00000030838

Domain	Start	End	E-Value	Type
PDZ	96	168	3.06e-19	SMART
low complexity region	190	203	N/A	INTRINSIC
PDZ	220	292	5.62e-18	SMART
coiled coil region	301	376	N/A	INTRINSIC
coiled coil region	419	478	N/A	INTRINSIC
low complexity region	515	529	N/A	INTRINSIC
low complexity region	562	596	N/A	INTRINSIC
low complexity region	600	612	N/A	INTRINSIC
PDZ	762	841	1.13e-13	SMART
low complexity region	846	860	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000176371

SMART Domains

Protein: ENSMUSP00000134783
Gene: ENSMUSG00000030838

Domain	Start	End	E-Value	Type
PDZ	65	137	3.06e-19	SMART
low complexity region	159	172	N/A	INTRINSIC
PDZ	189	261	5.62e-18	SMART
coiled coil region	270	345	N/A	INTRINSIC
PDZ	427	506	1.13e-13	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000177212

SMART Domains

Protein: ENSMUSP00000135734
Gene: ENSMUSG00000030838

Domain	Start	End	E-Value	Type
PDZ	96	168	3.06e-19	SMART
low complexity region	190	203	N/A	INTRINSIC
PDZ	220	291	6.13e-10	SMART
low complexity region	313	325	N/A	INTRINSIC
low complexity region	339	357	N/A	INTRINSIC
PDZ	439	518	1.13e-13	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (48/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mutations at this locus affect hearing and result in movement anomalies generally associated with vestibular mutants, such as head tossing and circling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	A	G	8: 13,222,774	V1328A	probably benign	Het
Akna	T	C	4: 63,394,797	Y363C	probably damaging	Het
Aph1c	A	G	9: 66,833,267	I59T	possibly damaging	Het
Bbs7	A	T	3: 36,610,223	F100I	probably damaging	Het
BC068281	T	C	12: 4,851,850	S569P	probably damaging	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Eef2k	G	A	7: 120,873,403	R113Q	probably damaging	Het
Fam221b	G	A	4: 43,660,342	R416C	probably damaging	Het
Fam92a	T	C	4: 12,171,842	H30R	probably benign	Het
Fam98b	C	A	2: 117,249,821	D18E	probably damaging	Het
Fat2	T	A	11: 55,284,397	Y1830F	possibly damaging	Het
Fbrsl1	T	A	5: 110,378,995	Q221L	possibly damaging	Het
Fbxo4	T	C	15: 3,968,969	R336G	probably damaging	Het
Fbxw15	A	T	9: 109,555,710	C341S	probably benign	Het
Fip1l1	T	C	5: 74,588,152	S398P	probably damaging	Het
Fsip2	A	G	2: 82,976,607	D1090G	probably damaging	Het
Fyb	T	A	15: 6,651,812	M706K	probably benign	Het
Glg1	A	T	8: 111,171,297	F747I	possibly damaging	Het
Gm8257	A	G	14: 44,650,166	L254P	probably benign	Het
Hnf4g	T	C	3: 3,651,619	Y283H	possibly damaging	Het
Irx6	C	A	8: 92,677,014	Y122*	probably null	Het
Jph4	C	T	14: 55,109,756	G445R	possibly damaging	Het
Kif16b	G	T	2: 142,712,899	R660S	possibly damaging	Het
Kif21a	C	T	15: 90,935,761	G1556D	possibly damaging	Het
Kif3a	T	A	11: 53,594,306	Y531*	probably null	Het
Lrp2	T	C	2: 69,489,329	D1950G	probably damaging	Het
Med23	T	G	10: 24,912,807	S1371A	probably benign	Het
Mef2a	T	A	7: 67,268,127	E112D	probably benign	Het
Mxra8	C	G	4: 155,841,132	Y99*	probably null	Het
Nbeal1	A	G	1: 60,200,133	T112A	probably benign	Het
Olfr913	G	A	9: 38,594,544	V108I	probably benign	Het
Pclo	G	A	5: 14,855,620	E4955K	unknown	Het
Poc1b	T	C	10: 99,155,143		probably null	Het
Prkrir	T	A	7: 98,716,377	I584N	probably damaging	Het
Ptbp2	A	G	3: 119,740,429	Y264H	probably damaging	Het
Rhobtb2	A	G	14: 69,796,621	V385A	probably benign	Het
Rlf	G	A	4: 121,150,905	P403S	possibly damaging	Het
Rnase9	T	C	14: 51,039,080	N147S	probably benign	Het
Serpinb9f	A	G	13: 33,334,620	I368V	probably benign	Het
Slc1a1	A	T	19: 28,901,448	T196S	probably benign	Het
Smarca2	A	G	19: 26,630,720	S60G	probably benign	Het
Tbc1d4	A	T	14: 101,507,554	V212E	probably damaging	Het
Ube3b	T	A	5: 114,392,138	N195K	possibly damaging	Het
Upk3b	T	C	5: 136,039,128	C58R	probably damaging	Het
Vmn1r60	T	C	7: 5,544,877	T75A		Het
Vmn2r77	T	A	7: 86,811,593	L709H	probably damaging	Het
Zfp418	A	T	7: 7,181,659	N207I	probably benign	Het
Zfp808	G	A	13: 62,171,707	C250Y	probably damaging	Het

Other mutations in Ush1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Ush1c	APN	7	46196770	missense	probably benign	0.00
IGL01074:Ush1c	APN	7	46225250	splice site	probably benign
IGL01099:Ush1c	APN	7	46205262	missense	probably damaging	0.99
IGL01107:Ush1c	APN	7	46209901	missense	probably damaging	1.00
IGL01446:Ush1c	APN	7	46208956	missense	possibly damaging	0.86
IGL02267:Ush1c	APN	7	46209298	missense	possibly damaging	0.92
IGL02307:Ush1c	APN	7	46197188	splice site	probably benign
IGL02448:Ush1c	APN	7	46209137	missense	possibly damaging	0.51
IGL02485:Ush1c	APN	7	46229250	missense	probably damaging	0.99
IGL02896:Ush1c	APN	7	46198415	missense	probably benign	0.00
IGL03031:Ush1c	APN	7	46224937	splice site	probably benign
R0085:Ush1c	UTSW	7	46225555	missense	probably benign	0.09
R0328:Ush1c	UTSW	7	46225448	splice site	probably benign
R0574:Ush1c	UTSW	7	46196804	missense	possibly damaging	0.68
R0600:Ush1c	UTSW	7	46224908	missense	probably benign	0.00
R1187:Ush1c	UTSW	7	46208914	missense	probably benign	0.01
R1406:Ush1c	UTSW	7	46225541	critical splice donor site	probably null
R1406:Ush1c	UTSW	7	46225541	critical splice donor site	probably null
R1716:Ush1c	UTSW	7	46195728	missense	probably benign	0.18
R1727:Ush1c	UTSW	7	46209231	missense	probably damaging	1.00
R1822:Ush1c	UTSW	7	46209901	missense	probably damaging	1.00
R1864:Ush1c	UTSW	7	46219392	nonsense	probably null
R2000:Ush1c	UTSW	7	46221433	missense	probably damaging	0.99
R2063:Ush1c	UTSW	7	46229481	missense	probably damaging	1.00
R2068:Ush1c	UTSW	7	46229481	missense	probably damaging	1.00
R2944:Ush1c	UTSW	7	46200982	missense	probably damaging	1.00
R4042:Ush1c	UTSW	7	46221528	missense	probably damaging	0.97
R4043:Ush1c	UTSW	7	46221528	missense	probably damaging	0.97
R4108:Ush1c	UTSW	7	46198445	missense	probably damaging	1.00
R4823:Ush1c	UTSW	7	46195733	missense	probably benign	0.00
R4862:Ush1c	UTSW	7	46229240	missense	probably damaging	1.00
R5534:Ush1c	UTSW	7	46221423	missense	probably damaging	1.00
R5922:Ush1c	UTSW	7	46204128	critical splice donor site	probably null
R6249:Ush1c	UTSW	7	46214959	missense	probably damaging	1.00
R6475:Ush1c	UTSW	7	46229219	missense	probably damaging	0.99
R6485:Ush1c	UTSW	7	46209110	missense	probably benign
R6667:Ush1c	UTSW	7	46225624	missense	probably damaging	1.00
R7177:Ush1c	UTSW	7	46229219	missense	probably damaging	0.99
R7419:Ush1c	UTSW	7	46229255	missense	probably damaging	1.00
R7424:Ush1c	UTSW	7	46225555	missense	probably benign	0.09
R7811:Ush1c	UTSW	7	46205286	nonsense	probably null
R7862:Ush1c	UTSW	7	46221424	missense	probably damaging	0.99
R8340:Ush1c	UTSW	7	46211206	missense	probably benign	0.41
R8470:Ush1c	UTSW	7	46209250	missense	probably damaging	1.00
R8478:Ush1c	UTSW	7	46221433	missense	probably damaging	0.99
R9025:Ush1c	UTSW	7	46197190	splice site	probably benign
R9076:Ush1c	UTSW	7	46201056	missense	probably damaging	1.00
R9129:Ush1c	UTSW	7	46205205	missense	probably benign	0.23
R9398:Ush1c	UTSW	7	46220510	missense	probably benign	0.08
R9418:Ush1c	UTSW	7	46222868	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGATCTGCTCACTCTCTAGCAG -3'
(R):5'- CAGTCAGACAGTCCTGAGTCAG -3'

Sequencing Primer
(F):5'- AGCAGCCCCCAATACTCTCTTG -3'
(R):5'- TGAGTCAGGCACAGGTCAC -3'

Posted On

2020-07-13