Mutagenetix > Incidental Mutation

Incidental Mutation 'R4823:Ush1c'

426179

Institutional Source

Beutler Lab

Gene Symbol

Ush1c

Ensembl Gene

ENSMUSG00000030838

Gene Name

USH1 protein network component harmonin

Synonyms

harmonin, 2010016F01Rik

MMRRC Submission

042439-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4823 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46195350-46238503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46195733 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 886 (N886I)

Ref Sequence

ENSEMBL: ENSMUSP00000009667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009667] [ENSMUST00000078680] [ENSMUST00000143155] [ENSMUST00000154292] [ENSMUST00000176371] [ENSMUST00000177212] [ENSMUST00000222454]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000009667
AA Change: N886I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000009667
Gene: ENSMUSG00000030838
AA Change: N886I

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 benign
Transcript: ENSMUST00000078680
AA Change: T546S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077747
Gene: ENSMUSG00000030838
AA Change: T546S

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

noncoding transcript
Transcript: ENSMUST00000129266

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 benign
Transcript: ENSMUST00000154292
AA Change: T889S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114494
Gene: ENSMUSG00000030838
AA Change: T889S

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 benign
Transcript: ENSMUST00000176371
AA Change: T515S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134783
Gene: ENSMUSG00000030838
AA Change: T515S

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 benign
Transcript: ENSMUST00000177212
AA Change: T527S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135734
Gene: ENSMUSG00000030838
AA Change: T527S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222454

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (96/98)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	G	A	5: 87,972,598	D405N	probably benign	Het
4921517D22Rik	T	G	13: 59,690,904	E38A	probably damaging	Het
4930433I11Rik	A	T	7: 40,993,362	I152F	probably benign	Het
5830473C10Rik	T	A	5: 90,566,503	L124H	probably benign	Het
Aass	A	T	6: 23,107,691	D364E	probably benign	Het
Adamts2	A	G	11: 50,737,187	D238G	probably benign	Het
Aplf	G	A	6: 87,646,255	L302F	probably damaging	Het
Apol7b	G	T	15: 77,427,782		probably benign	Het
Arhgef12	A	G	9: 43,020,696	V165A	probably benign	Het
Ascc3	T	C	10: 50,713,233	S1017P	probably damaging	Het
B230104I21Rik	T	A	4: 154,349,747		probably benign	Het
Bfsp2	C	A	9: 103,479,883	C115F	probably damaging	Het
Bhmt2	A	T	13: 93,663,290	W213R	probably benign	Het
C87499	T	C	4: 88,629,215	K160R	probably damaging	Het
Capn5	A	T	7: 98,126,441	V431E	probably damaging	Het
Ccdc88c	A	G	12: 100,930,543	Y1390H	probably damaging	Het
Ccr3	A	G	9: 124,028,681	T18A	probably damaging	Het
Cdh5	T	C	8: 104,142,669	S676P	probably benign	Het
Ceacam5	A	G	7: 17,757,744	T680A	possibly damaging	Het
Cebpd	G	A	16: 15,888,114	G264S	probably benign	Het
Cfd	T	C	10: 79,890,948	V8A	probably benign	Het
Cops9	C	T	1: 92,641,866		probably benign	Het
Cpne6	T	C	14: 55,517,010	Y533H	probably damaging	Het
Cyp2c67	T	A	19: 39,615,724	H396L	probably benign	Het
Cyp2j9	G	A	4: 96,568,735	P500S	possibly damaging	Het
Cyp4a12a	A	T	4: 115,327,413		probably null	Het
Dbt	G	A	3: 116,523,387	D71N	probably damaging	Het
Ddx41	G	T	13: 55,532,055	Q440K	probably benign	Het
Doxl2	A	G	6: 48,975,261	D40G	probably damaging	Het
Elovl4	A	G	9: 83,780,685	F174S	probably damaging	Het
Emcn	C	G	3: 137,423,426	P193R	probably damaging	Het
Etnk1	T	C	6: 143,167,638		probably null	Het
Fads3	A	C	19: 10,041,888	S53R	probably damaging	Het
Fam193a	A	G	5: 34,459,028	E849G	probably damaging	Het
Fat3	A	G	9: 15,996,507	V2733A	probably benign	Het
Frem3	T	A	8: 80,613,958	M960K	probably benign	Het
Frmd6	A	T	12: 70,872,575	I62L	probably benign	Het
Glmp	T	C	3: 88,325,223		probably benign	Het
Gm17421	T	C	12: 113,369,541		noncoding transcript	Het
Gm27013	T	A	6: 130,522,223		noncoding transcript	Het
Gtf2ird1	A	G	5: 134,395,722	V390A	probably damaging	Het
Hps3	A	G	3: 20,012,726	Y559H	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Itpr3	A	G	17: 27,085,147	D114G	probably benign	Het
Jmjd4	G	A	11: 59,455,580	A408T	probably benign	Het
Kcnh4	G	T	11: 100,755,174	A316D	probably damaging	Het
Klrg1	T	A	6: 122,273,533		probably null	Het
Lancl2	T	A	6: 57,732,277	Y355N	probably damaging	Het
Ltb	T	C	17: 35,195,230	S115P	probably benign	Het
Mccc2	T	G	13: 100,000,254	R64S	probably benign	Het
Mgam2-ps	T	A	6: 40,832,662		noncoding transcript	Het
Mrrf	T	G	2: 36,148,030	N104K	possibly damaging	Het
Nipa1	C	A	7: 55,979,688	V226L	possibly damaging	Het
Numa1	T	A	7: 101,996,037	L290Q	probably damaging	Het
Ofcc1	T	A	13: 40,280,473	H52L	probably damaging	Het
Ogfod3	G	A	11: 121,195,201	A189V	probably benign	Het
Olfr1176	A	G	2: 88,339,835	D90G	probably damaging	Het
Olfr1444	A	T	19: 12,861,816	I14F	probably benign	Het
Olfr1505	G	A	19: 13,919,658	V213I	probably benign	Het
Olfr292	T	A	7: 86,694,588	I44N	probably damaging	Het
P2ry12	G	A	3: 59,217,897	S119L	probably benign	Het
Pde7b	T	A	10: 20,438,785	N192Y	probably damaging	Het
Pfkl	T	C	10: 77,997,594	N258S	probably damaging	Het
Phykpl	G	A	11: 51,586,593	A71T	probably damaging	Het
Ppp1r16a	T	C	15: 76,693,193		probably benign	Het
Pramef20	T	C	4: 144,373,211	N328S	possibly damaging	Het
Prune2	C	T	19: 17,120,504	T1124M	probably damaging	Het
Rapgef6	A	G	11: 54,694,500	I1570V	probably benign	Het
Rbm34	T	C	8: 126,970,905	S19G	probably benign	Het
Rnf10	T	C	5: 115,255,442		probably null	Het
Rnf34	A	G	5: 122,850,302		probably null	Het
Setd4	A	G	16: 93,589,950	S287P	probably benign	Het
Shc3	C	T	13: 51,451,570	V225I	probably benign	Het
Sipa1l3	C	T	7: 29,371,002	V1030I	probably damaging	Het
Siva1	G	T	12: 112,645,064	R33L	probably damaging	Het
Slc4a5	C	T	6: 83,272,133	T573I	probably damaging	Het
Sorcs1	C	T	19: 50,678,140	R110Q	possibly damaging	Het
Sorcs1	T	C	19: 50,230,302	I581V	possibly damaging	Het
Sorl1	T	C	9: 41,992,321	D1545G	probably damaging	Het
Tas2r124	T	G	6: 132,755,546	S273A	probably damaging	Het
Tcf15	T	C	2: 152,143,893	F90L	probably damaging	Het
Trim59	G	A	3: 69,037,120	R296C	probably benign	Het
Tulp1	A	T	17: 28,353,572	D229E	probably benign	Het
Usp9y	A	T	Y: 1,444,559	S127T	probably damaging	Het
Vmn1r19	T	A	6: 57,405,234	Y257*	probably null	Het
Vmn2r109	A	T	17: 20,553,891	Y401N	probably damaging	Het
Vmn2r69	A	C	7: 85,411,300	S359A	probably benign	Het
Zfp37	A	T	4: 62,191,503	N479K	probably benign	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
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
R8182:Ush1c	UTSW	7	46198351	critical splice donor site	probably null
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'- AGCAGTTGATCCTTGCTCCAC -3'
(R):5'- GACAAGTGACTCCTGTCCTTCC -3'

Sequencing Primer
(F):5'- ACCTCTTGCTGGCCTTCAGAG -3'
(R):5'- AATCCTGACACCCTTTTGACC -3'

Posted On

2016-08-16