Mutagenetix > Incidental Mutation

Incidental Mutation 'R9129:Ush1c'

693475

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 #

R9129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46195350-46238503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46205205 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 708 (S708P)

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: S708P

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000009667
Gene: ENSMUSG00000030838
AA Change: S708P

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

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
AA Change: S708P

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119676
Gene: ENSMUSG00000030838
AA Change: S708P

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: S708P

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114494
Gene: ENSMUSG00000030838
AA Change: S708P

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

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 benign
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

Predicted Effect

probably benign
Transcript: ENSMUST00000222454
AA Change: S708P

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,546,260	S1238P	probably damaging	Het
Akap9	T	C	5: 4,069,089	L3532S	probably benign	Het
Ankfn1	A	G	11: 89,421,216	L701P		Het
Aph1b	A	C	9: 66,779,313	I225S	probably benign	Het
Asic4	A	T	1: 75,469,825	H337L	possibly damaging	Het
Atp8b3	T	C	10: 80,532,578	E187G	probably damaging	Het
Atp9a	A	G	2: 168,675,285	M376T	probably benign	Het
BC049730	A	G	7: 24,713,745	D163G	probably benign	Het
Bod1l	G	T	5: 41,818,877	T1698K	probably damaging	Het
Cacna2d4	T	C	6: 119,336,454		probably null	Het
Catsper1	C	A	19: 5,340,374		probably benign	Het
Cd248	T	C	19: 5,070,112	S663P	probably benign	Het
Crispld2	A	T	8: 120,010,749	M80L	possibly damaging	Het
Cwc22	G	A	2: 77,896,315	Q807*	probably null	Het
Cyp2a4	T	C	7: 26,314,711	Y438H	probably benign	Het
Cyp2b23	A	T	7: 26,681,764		probably benign	Het
Dsp	T	A	13: 38,193,150	V1637D	probably benign	Het
Elovl1	A	T	4: 118,431,959	Y227F	possibly damaging	Het
Ern1	T	C	11: 106,410,120	K483E	probably benign	Het
Fzd2	T	C	11: 102,605,639	F303S	probably benign	Het
Gm14548	C	A	7: 3,895,501		probably null	Het
Gm9944	A	T	4: 144,453,193	V42D	unknown	Het
Grik5	G	A	7: 25,068,004		probably benign	Het
Hdac4	T	C	1: 91,982,207	D445G	probably benign	Het
Hinfp	C	T	9: 44,297,765	R352H	probably damaging	Het
Hrnr	A	G	3: 93,323,970	H505R	unknown	Het
Hsfy2	C	T	1: 56,636,593	D262N	probably benign	Het
Hspa4	G	A	11: 53,283,636	Q186*	probably null	Het
Ipo8	T	C	6: 148,798,627	H584R	probably benign	Het
Krtap8-1	T	A	16: 89,487,748	R54*	probably null	Het
Lama4	T	A	10: 39,056,891	Y588N	probably benign	Het
Lekr1	T	A	3: 65,684,005	Y54*	probably null	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Lzts3	A	T	2: 130,634,945	Y528N	possibly damaging	Het
Mdn1	T	A	4: 32,676,812	V628E	probably benign	Het
Mgat5b	A	C	11: 116,968,522		probably benign	Het
Mical2	A	C	7: 112,271,382	K26T	possibly damaging	Het
Mllt10	C	T	2: 18,162,593	S443L	probably benign	Het
Mtf1	G	A	4: 124,805,120		probably benign	Het
Myom2	T	C	8: 15,104,068	F669L	probably damaging	Het
Nlrp9c	A	T	7: 26,378,003		probably null	Het
Nog	G	C	11: 89,301,776	S82W	probably damaging	Het
Ntrk2	A	G	13: 59,128,270	T795A	probably benign	Het
Olfr1032	A	T	2: 86,008,012	M79L		Het
Olfr1141	A	T	2: 87,753,704	F96L	probably benign	Het
Olfr1251	A	G	2: 89,667,586	F100S	probably damaging	Het
Olfr681	G	A	7: 105,122,016	M186I	probably benign	Het
Prl6a1	A	T	13: 27,318,081	I144L		Het
Rab11fip5	A	G	6: 85,340,910	V999A	probably benign	Het
Serpinb6b	TTGTTTCTGT	TTGT	13: 32,978,156		probably benign	Het
Shisa6	A	G	11: 66,220,027	M296T	probably benign	Het
Slc18a1	T	A	8: 69,038,881	T494S	probably benign	Het
Slc22a29	T	G	19: 8,169,305	I378L	probably benign	Het
Slc23a2	C	T	2: 132,078,412		probably null	Het
Slc2a7	G	T	4: 150,158,544	R274L	probably benign	Het
Spta1	A	G	1: 174,231,345	T1949A	possibly damaging	Het
Szt2	A	G	4: 118,364,669	V3339A	unknown	Het
Tcp10a	G	A	17: 7,326,536	D87N	probably benign	Het
Tgm5	T	G	2: 121,046,789	Q638P	probably damaging	Het
Tmem145	A	G	7: 25,314,840	T460A	possibly damaging	Het
Ttc3	A	T	16: 94,384,349	M50L	probably benign	Het
Vmn1r217	T	A	13: 23,114,706	T9S	probably benign	Het
Vmn1r26	T	C	6: 58,008,388	Y272C		Het
Vmn1r75	G	T	7: 11,880,586	A82S	probably benign	Het
Vmn2r117	T	A	17: 23,459,944	R769*	probably null	Het
Vps13b	C	A	15: 35,448,647	A589E	probably damaging	Het
Vps13d	G	A	4: 145,171,679	R304W		Het
Vps41	A	G	13: 18,827,605	E294G	probably benign	Het
Xpo7	T	C	14: 70,671,673	T802A	probably benign	Het
Ylpm1	T	A	12: 85,057,278	D2022E		Het
Zfp433	T	A	10: 81,719,890	C75*	probably null	Het
Zyg11a	A	T	4: 108,181,812	S737T	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
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
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
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'- TGCAAATCATGTGGATTCATCCC -3'
(R):5'- GTATCAGGCTGGCTCATGTG -3'

Sequencing Primer
(F):5'- TCCCTTGACCAATAAGAAGGTG -3'
(R):5'- GTAAACATACAATGGCTATCCCTGG -3'

Posted On

2022-01-20