Mutagenetix > Incidental Mutation

Incidental Mutation 'R9025:Ush1c'

716024

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

068854-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9025 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45844774-45887927 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 45846614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152126 (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

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 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

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

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 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (80/81)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	T	6: 128,534,545 (GRCm39)	N837K	possibly damaging	Het
Adam29	A	T	8: 56,325,196 (GRCm39)	C419*	probably null	Het
Adamts7	C	A	9: 90,067,848 (GRCm39)	S446*	probably null	Het
Ager	A	G	17: 34,819,594 (GRCm39)	R371G	probably damaging	Het
Apobr	T	A	7: 126,185,629 (GRCm39)	V380E	possibly damaging	Het
Arhgap26	T	C	18: 39,379,898 (GRCm39)	S105P		Het
Atrip	A	G	9: 108,902,906 (GRCm39)	F56S	probably damaging	Het
Bag2	T	C	1: 33,785,905 (GRCm39)	Y139C		Het
Bccip	C	T	7: 133,319,346 (GRCm39)	Q146*	probably null	Het
Btbd10	G	A	7: 112,951,031 (GRCm39)	R20W	possibly damaging	Het
Catsperd	T	A	17: 56,962,156 (GRCm39)	N443K	probably damaging	Het
Cdh26	G	A	2: 178,104,409 (GRCm39)	E265K	probably benign	Het
Cep76	T	C	18: 67,767,885 (GRCm39)	R216G	probably damaging	Het
Cgas	C	A	9: 78,349,787 (GRCm39)	V192L	probably benign	Het
Cnot1	T	A	8: 96,475,660 (GRCm39)	M1000L	probably benign	Het
Cyp1a1	A	G	9: 57,610,070 (GRCm39)	T495A	possibly damaging	Het
Cyp2w1	T	A	5: 139,342,470 (GRCm39)	M421K	probably benign	Het
Dlg5	T	C	14: 24,199,546 (GRCm39)	T1453A	probably benign	Het
Dnah5	G	T	15: 28,409,412 (GRCm39)	W3610L	probably damaging	Het
Dnah9	T	C	11: 65,896,651 (GRCm39)	D2391G	probably damaging	Het
Dnajc10	G	A	2: 80,179,637 (GRCm39)	G724R	probably damaging	Het
Dst	T	A	1: 34,227,585 (GRCm39)	I1726N	possibly damaging	Het
Dync2h1	A	T	9: 7,139,462 (GRCm39)	L1391*	probably null	Het
Dzank1	T	C	2: 144,318,012 (GRCm39)	S718G	probably benign	Het
E230025N22Rik	T	C	18: 36,819,890 (GRCm39)	D300G	probably damaging	Het
Ebf3	T	C	7: 136,914,098 (GRCm39)	I131V	possibly damaging	Het
Eif3g	T	C	9: 20,807,426 (GRCm39)	I131V	probably benign	Het
Eppk1	T	A	15: 75,990,503 (GRCm39)	Q2126L	possibly damaging	Het
Fam83h	T	C	15: 75,874,182 (GRCm39)	R1052G	probably benign	Het
Fry	A	T	5: 150,219,273 (GRCm39)		probably benign	Het
Ggt6	C	T	11: 72,328,123 (GRCm39)	H208Y	possibly damaging	Het
Gm15821	T	A	17: 34,433,235 (GRCm39)	E28V	unknown	Het
Gprin2	T	C	14: 33,916,957 (GRCm39)	Q271R	probably damaging	Het
Gsdmd	T	C	15: 75,739,053 (GRCm39)	F477L	probably benign	Het
Hes7	T	C	11: 69,013,782 (GRCm39)	S214P	probably benign	Het
Hmcn2	A	G	2: 31,347,967 (GRCm39)	H4871R	possibly damaging	Het
Il15ra	G	A	2: 11,723,233 (GRCm39)	V86I	possibly damaging	Het
Il17rb	C	A	14: 29,724,857 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnab2	T	C	4: 152,491,635 (GRCm39)	Y63C	probably damaging	Het
Kctd17	A	T	15: 78,314,282 (GRCm39)	Y84F	probably damaging	Het
Lama1	T	A	17: 68,119,491 (GRCm39)	V2656E		Het
Lama2	T	C	10: 26,860,367 (GRCm39)	N3040S	probably benign	Het
Ldha	C	T	7: 46,500,433 (GRCm39)	R173C	unknown	Het
Lig1	A	G	7: 13,037,746 (GRCm39)	I665M	probably damaging	Het
Lipe	G	A	7: 25,083,923 (GRCm39)	A412V	probably damaging	Het
Lrrc63	T	C	14: 75,322,284 (GRCm39)	T607A	probably benign	Het
Majin	G	A	19: 6,263,427 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,758,175 (GRCm39)	L335P	probably benign	Het
Map3k9	A	G	12: 81,819,507 (GRCm39)	L249P	probably damaging	Het
Muc5b	G	T	7: 141,426,209 (GRCm39)	D4769Y	probably damaging	Het
Myh9	T	C	15: 77,653,192 (GRCm39)	T1382A	probably benign	Het
Nedd4l	T	A	18: 65,311,995 (GRCm39)	D407E	probably damaging	Het
Ngp	A	G	9: 110,251,451 (GRCm39)	I160V	possibly damaging	Het
Nmrk1	A	G	19: 18,617,156 (GRCm39)		probably benign	Het
Nnmt	C	A	9: 48,503,461 (GRCm39)	K188N	probably damaging	Het
Nup153	T	A	13: 46,837,709 (GRCm39)	Q1171L	probably benign	Het
Oplah	T	A	15: 76,187,417 (GRCm39)	E556V	probably benign	Het
Or9g3	T	G	2: 85,589,879 (GRCm39)	L280F	possibly damaging	Het
Otog	A	G	7: 45,937,520 (GRCm39)	D1743G	probably benign	Het
Otogl	T	C	10: 107,613,432 (GRCm39)	Y2011C	probably damaging	Het
Pbx4	C	T	8: 70,317,097 (GRCm39)	P118L	probably benign	Het
Plekha6	T	A	1: 133,212,999 (GRCm39)	S757T	probably benign	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Polr3a	C	T	14: 24,519,479 (GRCm39)	S643N	probably damaging	Het
Pwp1	T	A	10: 85,718,745 (GRCm39)	L304Q	probably damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rab11fip1	A	G	8: 27,644,736 (GRCm39)	F350L	probably benign	Het
Safb2	T	C	17: 56,873,614 (GRCm39)	E683G	probably damaging	Het
Scarb1	A	T	5: 125,381,414 (GRCm39)	N43K	probably damaging	Het
Serpina3k	A	G	12: 104,307,230 (GRCm39)	E154G	probably damaging	Het
Sgsm3	T	A	15: 80,892,182 (GRCm39)	V250D	probably damaging	Het
Slit1	T	A	19: 41,612,968 (GRCm39)	I851F	probably benign	Het
Spag4	G	A	2: 155,910,424 (GRCm39)	G350E	probably damaging	Het
Sult2a7	A	T	7: 14,225,755 (GRCm39)	L77Q	probably damaging	Het
Tbc1d2	T	A	4: 46,607,062 (GRCm39)	T783S	probably damaging	Het
Thoc6	T	C	17: 23,888,862 (GRCm39)	E182G		Het
Tmem132a	A	T	19: 10,837,525 (GRCm39)	I595N	probably damaging	Het
Trim69	A	G	2: 122,003,771 (GRCm39)	N240S	probably benign	Het
Wnk4	T	G	11: 101,153,641 (GRCm39)	Y234*	probably null	Het
Zfp943	A	G	17: 22,211,321 (GRCm39)	N136D	possibly damaging	Het
Znhit2	G	A	19: 6,111,669 (GRCm39)	R138H	possibly 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
R1727:Ush1c	UTSW	7	45,858,655 (GRCm39)	missense	probably damaging	1.00
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
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'- GTGAGCCAGGACTACTAAGAC -3'
(R):5'- GCTTTTCCTAAAGTGTGGGCC -3'

Sequencing Primer
(F):5'- TAAGACCCATGACTCTGGTTCAGG -3'
(R):5'- TTCCTAAAGTGTGGGCCTCCAG -3'

Posted On

2022-06-27