Mutagenetix > Incidental Mutation

Incidental Mutation 'R1727:Ush1c'

198235

Institutional Source

Beutler Lab

Gene Symbol

Ush1c

Ensembl Gene

ENSMUSG00000030838

Gene Name

USH1 protein network component harmonin

Synonyms

harmonin, Usher syndrome 1C, 2010016F01Rik

MMRRC Submission

039759-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1727 (G1)

Quality Score

187

Status

Validated

Chromosome

Chromosomal Location

45844774-45887927 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45858655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 544 (D544E)

Ref Sequence

ENSEMBL: ENSMUSP00000114494 (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 damaging
Transcript: ENSMUST00000009667
AA Change: D544E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000009667
Gene: ENSMUSG00000030838
AA Change: D544E

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 damaging
Transcript: ENSMUST00000143155
AA Change: D544E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119676
Gene: ENSMUSG00000030838
AA Change: D544E

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

noncoding transcript
Transcript: ENSMUST00000148527

Predicted Effect

probably damaging
Transcript: ENSMUST00000154292
AA Change: D544E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114494
Gene: ENSMUSG00000030838
AA Change: D544E

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

noncoding transcript
Transcript: ENSMUST00000211426

Predicted Effect

probably damaging
Transcript: ENSMUST00000222454
AA Change: D544E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

96% (98/102)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	C	13: 104,565,472 (GRCm39)		probably benign	Het
Ak2	C	T	4: 128,901,556 (GRCm39)	P159L	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Akr1a1	A	G	4: 116,498,248 (GRCm39)	L99P	probably damaging	Het
Anxa8	T	A	14: 33,811,547 (GRCm39)	M34K	probably damaging	Het
Axl	T	G	7: 25,460,191 (GRCm39)	D767A	possibly damaging	Het
B430305J03Rik	A	G	3: 61,271,299 (GRCm39)		probably benign	Het
Cdh24	A	T	14: 54,876,095 (GRCm39)	Y182*	probably null	Het
Cdk5rap2	T	C	4: 70,190,916 (GRCm39)	D1043G	probably benign	Het
Cdk5rap2	A	T	4: 70,208,209 (GRCm39)	S746T	possibly damaging	Het
Cep120	T	C	18: 53,860,801 (GRCm39)	M210V	probably benign	Het
Chga	C	T	12: 102,527,696 (GRCm39)	H117Y	possibly damaging	Het
Cnga4	T	C	7: 105,054,961 (GRCm39)	W79R	probably damaging	Het
Cntnap5b	C	T	1: 100,141,469 (GRCm39)	T575I	possibly damaging	Het
Col6a3	T	A	1: 90,724,296 (GRCm39)		probably null	Het
Copz2	T	C	11: 96,744,301 (GRCm39)	V71A	probably benign	Het
Dennd3	G	T	15: 73,436,977 (GRCm39)	R1068L	possibly damaging	Het
Dhrs7	T	C	12: 72,706,238 (GRCm39)	T56A	probably damaging	Het
Dnah17	G	A	11: 117,961,315 (GRCm39)	T2557I	probably damaging	Het
Dnah17	A	T	11: 117,987,362 (GRCm39)	L1320*	probably null	Het
Dynlt2b	T	A	16: 32,241,751 (GRCm39)	M78K	probably benign	Het
Eif3b	T	C	5: 140,411,077 (GRCm39)	I176T	probably damaging	Het
Eif4b	T	A	15: 101,998,497 (GRCm39)	D392E	possibly damaging	Het
Eif4h	T	C	5: 134,668,134 (GRCm39)	Y7C	probably damaging	Het
Enam	A	T	5: 88,651,853 (GRCm39)	S1046C	probably damaging	Het
Epg5	T	A	18: 78,059,030 (GRCm39)	V1928E	possibly damaging	Het
Erbin	T	A	13: 103,964,476 (GRCm39)	E1222V	probably benign	Het
Fhdc1	T	A	3: 84,353,483 (GRCm39)	I581F	possibly damaging	Het
Fhip2b	C	A	14: 70,831,438 (GRCm39)	G32V	probably damaging	Het
Fstl4	A	C	11: 52,959,478 (GRCm39)	Q173P	probably damaging	Het
Gm266	A	G	12: 111,451,913 (GRCm39)	F98L	possibly damaging	Het
Gsdmc2	T	C	15: 63,721,628 (GRCm39)		probably benign	Het
Gtf2h3	A	G	5: 124,728,419 (GRCm39)	Q156R	probably benign	Het
H2-T23	T	C	17: 36,342,545 (GRCm39)	T198A	possibly damaging	Het
Il1r1	C	A	1: 40,332,424 (GRCm39)	A68E	probably benign	Het
Kcna7	A	T	7: 45,058,930 (GRCm39)	I406F	possibly damaging	Het
Lbr	A	G	1: 181,647,481 (GRCm39)	I432T	probably benign	Het
Lnx1	A	T	5: 74,768,577 (GRCm39)		probably null	Het
Lrrcc1	T	A	3: 14,602,423 (GRCm39)	I50N	probably damaging	Het
Lss	T	C	10: 76,375,678 (GRCm39)	V237A	possibly damaging	Het
Mcm10	A	G	2: 5,011,336 (GRCm39)	F212L	probably benign	Het
Methig1	A	C	15: 100,251,130 (GRCm39)	I14L	probably benign	Het
Mrpl41	A	T	2: 24,864,636 (GRCm39)	V55E	probably damaging	Het
Mtfp1	C	A	11: 4,043,982 (GRCm39)	D83Y	probably damaging	Het
Myh1	T	A	11: 67,101,292 (GRCm39)		probably benign	Het
Myo1e	T	C	9: 70,283,806 (GRCm39)	F834S	possibly damaging	Het
Ndufs7	A	T	10: 80,091,853 (GRCm39)		probably benign	Het
Nlrp4e	T	A	7: 23,020,420 (GRCm39)	N302K	probably benign	Het
Nt5e	T	A	9: 88,210,082 (GRCm39)	M115K	possibly damaging	Het
Nup153	A	T	13: 46,847,261 (GRCm39)	C723S	probably damaging	Het
Obox6	G	A	7: 15,568,502 (GRCm39)	P125S	probably benign	Het
Or1n2	G	A	2: 36,797,405 (GRCm39)	C149Y	probably benign	Het
Or2t48	A	T	11: 58,420,342 (GRCm39)	S157T	possibly damaging	Het
Or52n3	C	T	7: 104,530,721 (GRCm39)	T269I	probably benign	Het
Or5an11	T	G	19: 12,246,365 (GRCm39)	I257S	possibly damaging	Het
Or8i2	A	G	2: 86,852,607 (GRCm39)	F94L	probably damaging	Het
Pcdh1	A	C	18: 38,336,085 (GRCm39)	Y44*	probably null	Het
Pcdhb6	A	T	18: 37,467,640 (GRCm39)	D187V	probably damaging	Het
Pclo	A	G	5: 14,727,001 (GRCm39)		probably benign	Het
Pdcl3	T	A	1: 39,034,836 (GRCm39)	I80K	possibly damaging	Het
Pde12	A	T	14: 26,390,022 (GRCm39)	V229E	probably benign	Het
Plcg1	A	G	2: 160,590,008 (GRCm39)	E142G	probably benign	Het
Plxnb1	A	G	9: 108,930,125 (GRCm39)		probably null	Het
Pnpla1	A	G	17: 29,097,508 (GRCm39)	I225V	probably benign	Het
Polr2f	A	G	15: 79,028,805 (GRCm39)		probably benign	Het
Prob1	A	G	18: 35,787,364 (GRCm39)	S297P	possibly damaging	Het
Qsox2	A	C	2: 26,110,970 (GRCm39)	S132A	probably benign	Het
Rab19	T	A	6: 39,365,095 (GRCm39)	Y118*	probably null	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rptn	T	C	3: 93,304,445 (GRCm39)	S593P	possibly damaging	Het
Septin11	T	C	5: 93,304,783 (GRCm39)	I200T	probably damaging	Het
Slc10a4	T	A	5: 73,173,491 (GRCm39)		probably benign	Het
Slc9c1	A	T	16: 45,422,324 (GRCm39)	I1130F	probably benign	Het
Slit3	C	T	11: 35,520,659 (GRCm39)	R599C	probably damaging	Het
Snx19	C	T	9: 30,344,662 (GRCm39)	P622L	probably damaging	Het
Sspo	T	C	6: 48,471,782 (GRCm39)	L50P	probably damaging	Het
St8sia1	A	T	6: 142,822,453 (GRCm39)	C137S	probably damaging	Het
Syt11	G	C	3: 88,669,259 (GRCm39)	T211S	possibly damaging	Het
Tanc1	A	C	2: 59,621,153 (GRCm39)	Y324S	probably damaging	Het
Tas2r136	T	C	6: 132,754,753 (GRCm39)	I125V	possibly damaging	Het
Tbc1d15	A	T	10: 115,046,130 (GRCm39)	W458R	probably damaging	Het
Tecta	G	T	9: 42,270,597 (GRCm39)	T1237N	probably damaging	Het
Tet2	T	A	3: 133,193,051 (GRCm39)	D461V	probably damaging	Het
Tmco3	G	A	8: 13,368,866 (GRCm39)	V573M	possibly damaging	Het
Tmem212	A	T	3: 27,938,961 (GRCm39)	M175K	probably benign	Het
Traf6	A	G	2: 101,527,084 (GRCm39)	H278R	probably benign	Het
Trerf1	T	A	17: 47,652,092 (GRCm39)		noncoding transcript	Het
Ttn	A	C	2: 76,576,988 (GRCm39)	V24635G	probably damaging	Het
Usp47	C	T	7: 111,685,307 (GRCm39)	T586M	probably damaging	Het
Vmn2r1	T	A	3: 63,989,163 (GRCm39)	M34K	probably benign	Het
Vmn2r102	T	A	17: 19,897,770 (GRCm39)	W262R	probably damaging	Het
Wasf3	C	T	5: 146,403,769 (GRCm39)	A293V	probably benign	Het
Xrn2	A	G	2: 146,903,436 (GRCm39)	Q812R	probably benign	Het
Zc3h7b	T	C	15: 81,652,230 (GRCm39)	I10T	probably damaging	Het
Zfp747	A	T	7: 126,973,249 (GRCm39)	L307Q	probably damaging	Het
Zfp777	A	T	6: 48,020,824 (GRCm39)	F266Y	probably damaging	Het

Other mutations in Ush1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Ush1c	APN	7	45,846,194 (GRCm39)	missense	probably benign	0.00
IGL01074:Ush1c	APN	7	45,874,674 (GRCm39)	splice site	probably benign
IGL01099:Ush1c	APN	7	45,854,686 (GRCm39)	missense	probably damaging	0.99
IGL01107:Ush1c	APN	7	45,859,325 (GRCm39)	missense	probably damaging	1.00
IGL01446:Ush1c	APN	7	45,858,380 (GRCm39)	missense	possibly damaging	0.86
IGL02267:Ush1c	APN	7	45,858,722 (GRCm39)	missense	possibly damaging	0.92
IGL02307:Ush1c	APN	7	45,846,612 (GRCm39)	splice site	probably benign
IGL02448:Ush1c	APN	7	45,858,561 (GRCm39)	missense	possibly damaging	0.51
IGL02485:Ush1c	APN	7	45,878,674 (GRCm39)	missense	probably damaging	0.99
IGL02896:Ush1c	APN	7	45,847,839 (GRCm39)	missense	probably benign	0.00
IGL03031:Ush1c	APN	7	45,874,361 (GRCm39)	splice site	probably benign
R0085:Ush1c	UTSW	7	45,874,979 (GRCm39)	missense	probably benign	0.09
R0328:Ush1c	UTSW	7	45,874,872 (GRCm39)	splice site	probably benign
R0574:Ush1c	UTSW	7	45,846,228 (GRCm39)	missense	possibly damaging	0.68
R0600:Ush1c	UTSW	7	45,874,332 (GRCm39)	missense	probably benign	0.00
R1187:Ush1c	UTSW	7	45,858,338 (GRCm39)	missense	probably benign	0.01
R1406:Ush1c	UTSW	7	45,874,965 (GRCm39)	critical splice donor site	probably null
R1406:Ush1c	UTSW	7	45,874,965 (GRCm39)	critical splice donor site	probably null
R1716:Ush1c	UTSW	7	45,845,152 (GRCm39)	missense	probably benign	0.18
R1822:Ush1c	UTSW	7	45,859,325 (GRCm39)	missense	probably damaging	1.00
R1864:Ush1c	UTSW	7	45,868,816 (GRCm39)	nonsense	probably null
R2000:Ush1c	UTSW	7	45,870,857 (GRCm39)	missense	probably damaging	0.99
R2063:Ush1c	UTSW	7	45,878,905 (GRCm39)	missense	probably damaging	1.00
R2068:Ush1c	UTSW	7	45,878,905 (GRCm39)	missense	probably damaging	1.00
R2944:Ush1c	UTSW	7	45,850,406 (GRCm39)	missense	probably damaging	1.00
R4042:Ush1c	UTSW	7	45,870,952 (GRCm39)	missense	probably damaging	0.97
R4043:Ush1c	UTSW	7	45,870,952 (GRCm39)	missense	probably damaging	0.97
R4108:Ush1c	UTSW	7	45,847,869 (GRCm39)	missense	probably damaging	1.00
R4823:Ush1c	UTSW	7	45,845,157 (GRCm39)	missense	probably benign	0.00
R4862:Ush1c	UTSW	7	45,878,664 (GRCm39)	missense	probably damaging	1.00
R5534:Ush1c	UTSW	7	45,870,847 (GRCm39)	missense	probably damaging	1.00
R5922:Ush1c	UTSW	7	45,853,552 (GRCm39)	critical splice donor site	probably null
R6249:Ush1c	UTSW	7	45,864,383 (GRCm39)	missense	probably damaging	1.00
R6475:Ush1c	UTSW	7	45,878,643 (GRCm39)	missense	probably damaging	0.99
R6485:Ush1c	UTSW	7	45,858,534 (GRCm39)	missense	probably benign
R6667:Ush1c	UTSW	7	45,875,048 (GRCm39)	missense	probably damaging	1.00
R7177:Ush1c	UTSW	7	45,878,643 (GRCm39)	missense	probably damaging	0.99
R7419:Ush1c	UTSW	7	45,878,679 (GRCm39)	missense	probably damaging	1.00
R7424:Ush1c	UTSW	7	45,874,979 (GRCm39)	missense	probably benign	0.09
R7811:Ush1c	UTSW	7	45,854,710 (GRCm39)	nonsense	probably null
R7862:Ush1c	UTSW	7	45,870,848 (GRCm39)	missense	probably damaging	0.99
R8182:Ush1c	UTSW	7	45,847,775 (GRCm39)	critical splice donor site	probably null
R8340:Ush1c	UTSW	7	45,860,630 (GRCm39)	missense	probably benign	0.41
R8470:Ush1c	UTSW	7	45,858,674 (GRCm39)	missense	probably damaging	1.00
R8478:Ush1c	UTSW	7	45,870,857 (GRCm39)	missense	probably damaging	0.99
R9025:Ush1c	UTSW	7	45,846,614 (GRCm39)	splice site	probably benign
R9076:Ush1c	UTSW	7	45,850,480 (GRCm39)	missense	probably damaging	1.00
R9129:Ush1c	UTSW	7	45,854,629 (GRCm39)	missense	probably benign	0.23
R9398:Ush1c	UTSW	7	45,869,934 (GRCm39)	missense	probably benign	0.08
R9418:Ush1c	UTSW	7	45,872,292 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGGTGAGGATGAGCTGCTCACG -3'
(R):5'- TCCCTCCCAGACCTACTGGCTAAG -3'

Sequencing Primer
(F):5'- CGTGACCTGATGAGGGAAGC -3'
(R):5'- GCTAAGCTGGGTAGCTGG -3'

Posted On

2014-05-23