Mutagenetix > Incidental Mutation

Incidental Mutation 'R1864:Ush1c'

208495

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

039887-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1864 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

45844774-45887927 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 45868816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 373 (Q373*)

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 null
Transcript: ENSMUST00000009667
AA Change: Q373*

SMART Domains

Protein: ENSMUSP00000009667
Gene: ENSMUSG00000030838
AA Change: Q373*

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 null
Transcript: ENSMUST00000078680
AA Change: Q373*

SMART Domains

Protein: ENSMUSP00000077747
Gene: ENSMUSG00000030838
AA Change: Q373*

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 null
Transcript: ENSMUST00000143155
AA Change: Q373*

SMART Domains

Protein: ENSMUSP00000119676
Gene: ENSMUSG00000030838
AA Change: Q373*

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 null
Transcript: ENSMUST00000154292
AA Change: Q373*

SMART Domains

Protein: ENSMUSP00000114494
Gene: ENSMUSG00000030838
AA Change: Q373*

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 null
Transcript: ENSMUST00000176371
AA Change: Q342*

SMART Domains

Protein: ENSMUSP00000134783
Gene: ENSMUSG00000030838
AA Change: Q342*

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 null
Transcript: ENSMUST00000177212
AA Change: Q354*

SMART Domains

Protein: ENSMUSP00000135734
Gene: ENSMUSG00000030838
AA Change: Q354*

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 null
Transcript: ENSMUST00000222454
AA Change: Q373*

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.1%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg2	G	A	X: 159,265,347 (GRCm39)	M532I	probably benign	Het
Agtpbp1	A	G	13: 59,598,016 (GRCm39)	Y1198H	possibly damaging	Het
Ahcyl2	G	A	6: 29,908,354 (GRCm39)	V575M	probably damaging	Het
Akp3	TCACCACCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCACCACCAC	1: 87,055,489 (GRCm39)		probably benign	Het
Ankrd50	A	T	3: 38,508,610 (GRCm39)	N329K	probably benign	Het
Ano4	C	A	10: 88,807,253 (GRCm39)	G741V	probably damaging	Het
Anxa1	T	C	19: 20,357,053 (GRCm39)	D191G	probably benign	Het
Apc2	C	T	10: 80,149,482 (GRCm39)	T1512I	probably damaging	Het
Aph1b	A	T	9: 66,701,395 (GRCm39)	C81S	probably benign	Het
Arhgap21	T	C	2: 20,866,015 (GRCm39)	E893G	probably damaging	Het
Arhgef28	A	T	13: 98,130,640 (GRCm39)	H399Q	probably benign	Het
Asic5	A	G	3: 81,919,294 (GRCm39)	E304G	probably benign	Het
B4galnt4	A	G	7: 140,650,446 (GRCm39)	Y771C	probably damaging	Het
Birc2	G	T	9: 7,819,518 (GRCm39)	Q465K	probably benign	Het
Btla	C	T	16: 45,070,737 (GRCm39)	T232I	probably damaging	Het
Ccl7	G	T	11: 81,937,378 (GRCm39)	K37N	probably benign	Het
Cdk17	T	C	10: 93,061,967 (GRCm39)	V233A	probably damaging	Het
Cenatac	A	G	9: 44,329,018 (GRCm39)	C66R	probably damaging	Het
Cilp2	C	A	8: 70,333,973 (GRCm39)	Q1008H	probably damaging	Het
Clcn1	T	A	6: 42,282,475 (GRCm39)	D442E	probably damaging	Het
Clcnka	T	C	4: 141,120,113 (GRCm39)	T269A	probably damaging	Het
Col12a1	A	T	9: 79,534,385 (GRCm39)		probably null	Het
Cts6	A	G	13: 61,349,393 (GRCm39)	I105T	probably benign	Het
Cyp3a25	T	C	5: 145,931,739 (GRCm39)	D123G	probably damaging	Het
D630003M21Rik	A	T	2: 158,045,105 (GRCm39)	L808Q	probably damaging	Het
Ddrgk1	A	T	2: 130,496,215 (GRCm39)	I270N	probably damaging	Het
Dhx15	T	C	5: 52,342,043 (GRCm39)	T92A	possibly damaging	Het
Dhx32	A	T	7: 133,339,025 (GRCm39)	C197S	probably benign	Het
Diaph2	G	A	X: 128,860,876 (GRCm39)	R473Q	probably damaging	Het
Dnd1	A	G	18: 36,899,057 (GRCm39)	C11R	possibly damaging	Het
Dock1	A	C	7: 134,748,236 (GRCm39)	D1566A	probably benign	Het
Drp2	A	G	X: 133,327,864 (GRCm39)	I43V	probably benign	Het
Ecm2	T	C	13: 49,683,621 (GRCm39)	V533A	probably benign	Het
Ecpas	T	A	4: 58,849,942 (GRCm39)	H427L	possibly damaging	Het
Emilin1	A	G	5: 31,075,934 (GRCm39)	E725G	probably damaging	Het
Eml2	A	G	7: 18,935,803 (GRCm39)	Y487C	probably damaging	Het
Epg5	T	A	18: 78,018,246 (GRCm39)	L919H	probably damaging	Het
Fam187a	T	A	11: 102,776,837 (GRCm39)	S214T	probably damaging	Het
Flna	T	C	X: 73,283,869 (GRCm39)	T521A	probably benign	Het
Foxi1	T	A	11: 34,157,531 (GRCm39)	I165F	probably damaging	Het
Fxr2	A	T	11: 69,543,103 (GRCm39)	K633N	probably benign	Het
Gdpd5	T	C	7: 99,098,206 (GRCm39)	I209T	probably benign	Het
Gmpr	G	T	13: 45,696,101 (GRCm39)	V278F	probably damaging	Het
Grm7	A	T	6: 111,057,384 (GRCm39)	D328V	probably benign	Het
Heatr6	T	C	11: 83,660,056 (GRCm39)	S534P	probably damaging	Het
Heph	A	G	X: 95,573,092 (GRCm39)	T792A	probably damaging	Het
Hipk2	T	A	6: 38,695,870 (GRCm39)		probably null	Het
Hps3	T	A	3: 20,074,123 (GRCm39)		probably null	Het
Hspa5	T	C	2: 34,664,553 (GRCm39)	F336L	probably damaging	Het
Insc	T	C	7: 114,441,413 (GRCm39)	I409T	probably benign	Het
Kcnj8	T	A	6: 142,515,966 (GRCm39)	H47L	probably damaging	Het
Kcnma1	T	A	14: 23,853,230 (GRCm39)	Q108L	probably damaging	Het
Klc3	A	G	7: 19,131,966 (GRCm39)	V137A	probably damaging	Het
Lcn2	T	C	2: 32,275,434 (GRCm39)	T194A	possibly damaging	Het
Lgr4	T	A	2: 109,841,742 (GRCm39)	F576I	possibly damaging	Het
Lypd6b	A	G	2: 49,837,459 (GRCm39)	I144V	possibly damaging	Het
Mctp1	G	A	13: 76,533,267 (GRCm39)	C205Y	possibly damaging	Het
Mitf	A	T	6: 97,987,383 (GRCm39)	N159I	probably damaging	Het
Morc1	T	C	16: 48,412,893 (GRCm39)	I678T	probably benign	Het
Muc4	A	G	16: 32,576,625 (GRCm39)		probably benign	Het
Myo7a	T	C	7: 97,701,463 (GRCm39)	Y2115C	probably damaging	Het
Myof	T	C	19: 37,975,153 (GRCm39)	I182V	probably benign	Het
Ncor1	A	G	11: 62,272,245 (GRCm39)	V635A	probably damaging	Het
Neb	G	T	2: 52,102,772 (GRCm39)	Y4257*	probably null	Het
Npr2	T	A	4: 43,641,258 (GRCm39)	V428E	probably benign	Het
Nufip2	A	G	11: 77,583,124 (GRCm39)	D346G	probably damaging	Het
Obsl1	G	A	1: 75,469,753 (GRCm39)	S1088F	probably benign	Het
Or10s1	T	G	9: 39,986,081 (GRCm39)	I163M	possibly damaging	Het
Or2ag1	T	C	7: 106,313,030 (GRCm39)	N286S	possibly damaging	Het
Or4c127	T	A	2: 89,832,825 (GRCm39)	V25E	probably benign	Het
Or4k38	C	T	2: 111,166,052 (GRCm39)	V124M	possibly damaging	Het
Or5ac22	A	G	16: 59,135,378 (GRCm39)	Y131H	probably damaging	Het
Or8b9	T	A	9: 37,766,560 (GRCm39)	Y149N	probably damaging	Het
Pdgfrb	G	A	18: 61,204,789 (GRCm39)	V550I	probably benign	Het
Pi4ka	A	T	16: 17,185,389 (GRCm39)	L237*	probably null	Het
Pla2r1	G	A	2: 60,259,055 (GRCm39)	T1111M	probably benign	Het
Plxnd1	A	T	6: 115,946,402 (GRCm39)		probably null	Het
Pnp	G	C	14: 51,185,430 (GRCm39)	A67P	probably benign	Het
Ppp1r3a	A	T	6: 14,718,404 (GRCm39)	S837T	probably damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prom2	T	C	2: 127,381,707 (GRCm39)	D203G	probably benign	Het
Pum1	T	C	4: 130,478,836 (GRCm39)	V486A	possibly damaging	Het
Rnf115	A	G	3: 96,635,153 (GRCm39)		probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rusc2	C	A	4: 43,421,719 (GRCm39)	A713D	possibly damaging	Het
Ryr3	A	T	2: 112,560,673 (GRCm39)	H3009Q	possibly damaging	Het
Serpina1d	C	A	12: 103,734,256 (GRCm39)	C16F	probably benign	Het
Serpinf2	G	T	11: 75,328,309 (GRCm39)	R80S	possibly damaging	Het
Sh2d4a	C	A	8: 68,781,967 (GRCm39)	Q192K	probably benign	Het
Sh3d21	T	A	4: 126,044,729 (GRCm39)		probably null	Het
Sh3rf2	T	A	18: 42,187,046 (GRCm39)	L55Q	probably damaging	Het
Shc4	T	C	2: 125,481,287 (GRCm39)	D255G	probably damaging	Het
Skint2	T	A	4: 112,483,106 (GRCm39)	H170Q	probably benign	Het
Slc29a4	A	G	5: 142,703,509 (GRCm39)	Y261C	probably damaging	Het
Slc35a5	A	T	16: 44,964,071 (GRCm39)	N102K	possibly damaging	Het
Slc38a3	A	T	9: 107,533,152 (GRCm39)	I307K	probably damaging	Het
Sv2b	A	T	7: 74,773,828 (GRCm39)	S548T	probably benign	Het
Tgfbi	T	C	13: 56,780,694 (GRCm39)	S524P	probably benign	Het
Tgm5	T	C	2: 120,905,699 (GRCm39)	D152G	probably damaging	Het
Tmem213	A	G	6: 38,086,487 (GRCm39)	T48A	possibly damaging	Het
Tmem37	A	G	1: 119,995,952 (GRCm39)	S42P	probably damaging	Het
Trpm1	A	G	7: 63,917,764 (GRCm39)	K1258R	probably damaging	Het
Ttc22	T	C	4: 106,494,003 (GRCm39)	V321A	probably benign	Het
Ube2c	C	A	2: 164,611,943 (GRCm39)	A15E	probably benign	Het
Ubn2	T	A	6: 38,417,425 (GRCm39)	D154E	possibly damaging	Het
Umod	A	T	7: 119,062,478 (GRCm39)	L631M	probably damaging	Het
Vmn1r238	T	A	18: 3,123,040 (GRCm39)	R125*	probably null	Het
Wnt8b	T	C	19: 44,482,029 (GRCm39)	L14P	probably benign	Het
Wrn	G	A	8: 33,778,892 (GRCm39)	A563V	probably damaging	Het
Zfp268	A	T	4: 145,348,998 (GRCm39)	Q145L	possibly damaging	Het
Zfp608	A	G	18: 55,030,983 (GRCm39)	S986P	probably benign	Het
Znrf3	T	C	11: 5,233,373 (GRCm39)	H228R	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
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'- CTGGGATAGTCACCTGGAAAGG -3'
(R):5'- CTGTGTGCACACTCAGCTTTG -3'

Sequencing Primer
(F):5'- ACCTGGAAAGGTGCTGATG -3'
(R):5'- AGCTTTGACACTCCACTGCAG -3'

Posted On

2014-06-30