Mutagenetix > Incidental Mutations

Incidental Mutation 'R7177:Ush1c'

558687

Institutional Source

Beutler Lab

Gene Symbol

Ush1c

Ensembl Gene

ENSMUSG00000030838

Gene Name

USH1 protein network component harmonin

Synonyms

harmonin, 2010016F01Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46195350-46238503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46229219 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 124 (D124G)

Ref Sequence

ENSEMBL: ENSMUSP00000135734 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000009667
AA Change: D124G

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000009667
Gene: ENSMUSG00000030838
AA Change: D124G

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: D124G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000077747
Gene: ENSMUSG00000030838
AA Change: D124G

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: D124G

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000119676
Gene: ENSMUSG00000030838
AA Change: D124G

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: D124G

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114494
Gene: ENSMUSG00000030838
AA Change: D124G

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: D93G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000134783
Gene: ENSMUSG00000030838
AA Change: D93G

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 damaging
Transcript: ENSMUST00000177212
AA Change: D124G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135734
Gene: ENSMUSG00000030838
AA Change: D124G

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: D124G

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.2704

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	T	A	8: 45,970,407	E89D	possibly damaging	Het
4930550C14Rik	T	C	9: 53,414,385	L74S	probably damaging	Het
4933406M09Rik	T	C	1: 134,390,425	S312P	probably benign	Het
5730409E04Rik	A	G	4: 126,611,732	S18G	probably benign	Het
Adam29	A	G	8: 55,872,624	I265T	probably benign	Het
Aff4	C	T	11: 53,406,639	S896L	probably benign	Het
Ankrd27	T	C	7: 35,619,397	I571T	probably damaging	Het
Bdp1	C	A	13: 100,049,970	R1658I	probably damaging	Het
Carm1	C	T	9: 21,547,027	T7M	unknown	Het
Ccdc105	T	C	10: 78,752,490	D162G	probably damaging	Het
Ccdc183	A	G	2: 25,616,284	V100A	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Ceacam2	T	G	7: 25,520,916	D239A	probably benign	Het
Cmya5	T	C	13: 93,095,328	D1084G	probably benign	Het
Cog5	T	A	12: 31,760,889	I194K	probably damaging	Het
Col20a1	C	T	2: 180,994,214	Q211*	probably null	Het
Col9a1	T	A	1: 24,195,417	L13Q	unknown	Het
Cracr2a	A	T	6: 127,608,706	M156L	probably benign	Het
Cts8	C	T	13: 61,251,691	M151I	possibly damaging	Het
Cyp2ab1	A	T	16: 20,316,719	L11Q	probably null	Het
Dhrs13	T	A	11: 78,034,382	C160S	probably benign	Het
Enthd1	T	A	15: 80,474,214	E368D	probably damaging	Het
Fbxo18	A	G	2: 11,755,711	I676T	probably damaging	Het
Fcgrt	T	C	7: 45,101,997	R176G	probably benign	Het
Gatd1	A	G	7: 141,411,034	F67L	possibly damaging	Het
Gm4353	G	A	7: 116,084,492	P23S	probably damaging	Het
Gm6882	T	A	7: 21,427,752	I64F	possibly damaging	Het
Grwd1	A	T	7: 45,830,780	M1K	probably null	Het
Hook2	T	A	8: 84,991,417	S58T	probably benign	Het
Iqch	T	G	9: 63,421,835	*1072C	probably null	Het
Kmt2d	G	A	15: 98,850,386	T3019I	unknown	Het
Lmx1a	T	C	1: 167,846,678	S356P	probably benign	Het
Lrig3	A	G	10: 126,006,843	M546V	probably benign	Het
Lrrc1	C	A	9: 77,472,222	E96*	probably null	Het
Lrtm2	C	A	6: 119,317,152	M339I	probably damaging	Het
Map10	T	C	8: 125,671,845	V659A	probably benign	Het
Map7d1	A	G	4: 126,236,985	C384R	probably damaging	Het
Mcur1	T	C	13: 43,544,536	D296G	probably damaging	Het
Mettl24	A	T	10: 40,810,512	H295L	probably damaging	Het
Mpl	A	G	4: 118,448,544		probably null	Het
Mrps5	T	C	2: 127,595,697	V148A	probably benign	Het
N4bp2	T	C	5: 65,807,548	V980A	probably damaging	Het
Ncaph	A	T	2: 127,116,586	D504E	probably damaging	Het
Nxph1	A	G	6: 9,247,497	N156S	probably damaging	Het
Odf3l1	T	A	9: 56,849,978	M139L	possibly damaging	Het
Olfr1307	T	A	2: 111,945,156	Q100L	probably damaging	Het
Olfr1395	T	A	11: 49,149,185	C309*	probably null	Het
Pafah1b3	T	A	7: 25,295,232	I186L	probably benign	Het
Papola	C	A	12: 105,809,531	N235K	possibly damaging	Het
Pcnx3	A	T	19: 5,687,499	M98K	probably benign	Het
Pkhd1l1	A	G	15: 44,467,404	N125S	probably damaging	Het
Pls1	T	A	9: 95,773,559	H380L	probably benign	Het
Plxna1	T	C	6: 89,323,329	T1591A	possibly damaging	Het
Pparg	T	G	6: 115,441,620	S147A	probably benign	Het
Prdm10	T	C	9: 31,367,707	S1025P	probably benign	Het
Prkcd	T	A	14: 30,599,707	H510L	probably damaging	Het
Ptprh	T	A	7: 4,569,481	E499D	possibly damaging	Het
Rad51ap1	A	G	6: 126,925,020	S256P	probably benign	Het
Rad54b	A	G	4: 11,599,755	T320A	probably damaging	Het
Rnf207	A	G	4: 152,312,177	I459T	probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Ryr3	A	T	2: 112,900,843	D727E	probably damaging	Het
Sdk2	C	T	11: 113,829,969	R1378H	possibly damaging	Het
Slc7a11	A	G	3: 50,443,231	S11P	probably benign	Het
Sox4	A	G	13: 28,953,017	V2A	probably damaging	Het
Srf	A	G	17: 46,555,392	F146S	probably damaging	Het
Srrm2	T	C	17: 23,816,773	V797A	unknown	Het
Stk32c	T	C	7: 139,104,302	D463G	possibly damaging	Het
Syne2	C	A	12: 75,971,880	Y3384*	probably null	Het
Tmem55b	A	C	14: 50,930,177	M104R	possibly damaging	Het
Traip	T	A	9: 107,960,985	M139K	possibly damaging	Het
Trappc2l	T	A	8: 122,614,312	F100Y	probably damaging	Het
Uty	A	G	Y: 1,099,691	V1168A	probably benign	Het
Vmn2r25	T	C	6: 123,839,923	D233G	possibly damaging	Het
Zdbf2	C	T	1: 63,294,961	R31C	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- CCTAGTATGTGTAAGGACAGGG -3'
(R):5'- AGGGTACACAGAGCTAGCTC -3'

Sequencing Primer
(F):5'- TGTGTAAGGACAGGGACACACAC -3'
(R):5'- GAGCTAGCTCTCAGGCTTG -3'

Posted On

2019-06-26