Mutagenetix > Incidental Mutation

Incidental Mutation 'R7419:Ush1c'

575527

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

045497-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7419 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45844774-45887927 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45878679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 112 (L112P)

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 damaging
Transcript: ENSMUST00000009667
AA Change: L112P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000009667
Gene: ENSMUSG00000030838
AA Change: L112P

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 damaging
Transcript: ENSMUST00000078680
AA Change: L112P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077747
Gene: ENSMUSG00000030838
AA Change: L112P

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: L112P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119676
Gene: ENSMUSG00000030838
AA Change: L112P

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 damaging
Transcript: ENSMUST00000154292
AA Change: L112P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114494
Gene: ENSMUSG00000030838
AA Change: L112P

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 damaging
Transcript: ENSMUST00000176371
AA Change: L81P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134783
Gene: ENSMUSG00000030838
AA Change: L81P

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: L112P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135734
Gene: ENSMUSG00000030838
AA Change: L112P

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 damaging
Transcript: ENSMUST00000222454
AA Change: L112P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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

Validation Efficiency

99% (93/94)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,226,959 (GRCm39)	S572P	probably damaging	Het
Abca13	T	C	11: 9,247,833 (GRCm39)	Y2527H	probably damaging	Het
Abcc5	A	G	16: 20,241,173 (GRCm39)	I4T	possibly damaging	Het
Adamts12	C	T	15: 11,317,365 (GRCm39)	T1355I	probably benign	Het
Aloxe3	A	G	11: 69,018,353 (GRCm39)	T117A	probably benign	Het
Asb15	A	G	6: 24,556,555 (GRCm39)	I17V	probably benign	Het
Atf2	A	G	2: 73,672,777 (GRCm39)	V194A	probably benign	Het
Capn7	T	C	14: 31,071,779 (GRCm39)	V221A	probably benign	Het
Ccdc107	A	T	4: 43,493,512 (GRCm39)	S28C	probably benign	Het
Cct4	C	T	11: 22,946,420 (GRCm39)	T162I	probably benign	Het
Cdc40	A	T	10: 40,717,439 (GRCm39)	H417Q	probably damaging	Het
Celf1	A	G	2: 90,833,588 (GRCm39)	I115V	probably benign	Het
Ces3a	A	G	8: 105,783,056 (GRCm39)	Y395C	probably damaging	Het
Cfh	C	A	1: 140,033,204 (GRCm39)	C798F	probably damaging	Het
Clstn3	T	C	6: 124,435,088 (GRCm39)	T313A	probably benign	Het
Crmp1	T	A	5: 37,436,229 (GRCm39)	M329K	probably benign	Het
Csf2ra	C	T	19: 61,215,491 (GRCm39)	A76T	possibly damaging	Het
Cspg4	T	A	9: 56,795,727 (GRCm39)	V1154E	possibly damaging	Het
Cyp2a4	A	T	7: 26,014,188 (GRCm39)	N455I	probably benign	Het
Cyp4a32	T	G	4: 115,468,234 (GRCm39)	M268R	probably benign	Het
Dcaf13	T	A	15: 38,993,615 (GRCm39)	I236N	probably damaging	Het
Dennd2a	A	G	6: 39,500,397 (GRCm39)	I56T	probably damaging	Het
Eif2d	T	A	1: 131,098,793 (GRCm39)	S530R	probably benign	Het
Ep300	T	A	15: 81,532,715 (GRCm39)	M1651K	unknown	Het
Epha3	G	A	16: 63,418,657 (GRCm39)	T596I	probably damaging	Het
Fam171a2	C	T	11: 102,329,628 (GRCm39)	C377Y	possibly damaging	Het
Fat4	T	A	3: 39,054,385 (GRCm39)	N4142K	probably damaging	Het
Galnt5	C	A	2: 57,904,937 (GRCm39)	S500Y	probably damaging	Het
Gas6	A	G	8: 13,521,456 (GRCm39)	V431A	probably benign	Het
Gm7544	C	T	1: 82,933,502 (GRCm39)	C56Y	unknown	Het
Golgb1	T	A	16: 36,733,281 (GRCm39)	L884I	possibly damaging	Het
Gpatch2l	T	G	12: 86,312,025 (GRCm39)		probably null	Het
Gpr33	T	C	12: 52,070,050 (GRCm39)	T330A	probably benign	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Ifi205	A	G	1: 173,855,874 (GRCm39)	M52T	possibly damaging	Het
Ino80	A	T	2: 119,210,495 (GRCm39)	D1346E	probably benign	Het
Ino80c	T	C	18: 24,241,836 (GRCm39)	K183R	unknown	Het
Itgal	G	T	7: 126,906,047 (GRCm39)	R379L	probably benign	Het
Itih3	T	A	14: 30,636,730 (GRCm39)	T582S	probably benign	Het
Kcnb2	T	C	1: 15,781,251 (GRCm39)	S708P	possibly damaging	Het
Kcnt1	A	T	2: 25,806,011 (GRCm39)	Y1200F	probably benign	Het
L3mbtl4	G	A	17: 68,948,537 (GRCm39)	D473N	probably benign	Het
Lama1	T	G	17: 68,024,169 (GRCm39)	I89R		Het
Lama2	A	G	10: 27,142,630 (GRCm39)	I616T	probably benign	Het
Lipm	A	C	19: 34,093,881 (GRCm39)	D266A	probably benign	Het
Lrrc4c	A	T	2: 97,460,106 (GRCm39)	H244L	probably benign	Het
Lrrtm3	T	C	10: 63,923,925 (GRCm39)	E414G	probably damaging	Het
Ltbp4	A	G	7: 27,029,192 (GRCm39)	V231A	unknown	Het
Me3	G	T	7: 89,385,927 (GRCm39)	R92L	probably damaging	Het
Mroh7	T	G	4: 106,541,115 (GRCm39)	I1175L	probably benign	Het
Muc16	A	G	9: 18,553,258 (GRCm39)	M4345T	probably benign	Het
Mug2	A	G	6: 122,017,529 (GRCm39)	Y422C	possibly damaging	Het
N6amt1	T	G	16: 87,164,454 (GRCm39)	S214A	possibly damaging	Het
Ogfrl1	G	A	1: 23,422,063 (GRCm39)	Q24*	probably null	Het
Or12e14	A	T	2: 87,677,406 (GRCm39)	T264S	probably benign	Het
Or1ad6	T	A	11: 50,860,152 (GRCm39)	Y102*	probably null	Het
Or2ag2b	T	C	7: 106,417,551 (GRCm39)	L87P	possibly damaging	Het
Or4f14	G	A	2: 111,742,435 (GRCm39)	P280L	probably damaging	Het
Or4k6	A	C	14: 50,475,448 (GRCm39)	V298G	possibly damaging	Het
Or4x13	A	G	2: 90,231,803 (GRCm39)	D266G	probably damaging	Het
Or6b6	A	G	7: 106,571,353 (GRCm39)	M66T	probably benign	Het
Or7g23	A	C	9: 19,086,642 (GRCm39)	M110R	possibly damaging	Het
Or8g23	T	A	9: 38,971,465 (GRCm39)	I166L	probably benign	Het
Or8k3	C	T	2: 86,058,557 (GRCm39)	G253R	probably damaging	Het
Oser1	A	T	2: 163,253,364 (GRCm39)	D48E	probably benign	Het
Piwil4	G	A	9: 14,613,691 (GRCm39)	P867L	probably damaging	Het
Pla2g6	C	T	15: 79,189,898 (GRCm39)		probably null	Het
Plxna1	A	G	6: 89,334,584 (GRCm39)	L15P	unknown	Het
Ppan	C	T	9: 20,803,140 (GRCm39)	T404I	probably benign	Het
Pros1	C	A	16: 62,748,433 (GRCm39)	Y635*	probably null	Het
Rabep2	G	A	7: 126,043,342 (GRCm39)	R414Q	probably benign	Het
Rbms3	T	A	9: 116,651,894 (GRCm39)	E201V	probably damaging	Het
Robo4	A	C	9: 37,314,105 (GRCm39)	I119L	probably benign	Het
S100b	A	T	10: 76,095,820 (GRCm39)	D66V	probably damaging	Het
Serpina1f	A	G	12: 103,656,101 (GRCm39)	S376P	probably damaging	Het
Slc24a4	T	C	12: 102,193,350 (GRCm39)		probably null	Het
Slc30a6	T	C	17: 74,730,424 (GRCm39)	V438A	probably benign	Het
Sobp	A	G	10: 42,897,804 (GRCm39)	S594P	probably benign	Het
Tcstv1b	A	G	13: 120,634,994 (GRCm39)	E92G	probably damaging	Het
Tmem45b	T	C	9: 31,339,334 (GRCm39)	D213G	probably benign	Het
Topbp1	T	A	9: 103,200,543 (GRCm39)	D525E	probably benign	Het
Trim30c	G	T	7: 104,037,472 (GRCm39)	L165I	probably benign	Het
Unc13b	A	T	4: 43,174,023 (GRCm39)	D1617V	unknown	Het
Vipr1	T	A	9: 121,490,539 (GRCm39)	I195N	probably damaging	Het
Vmn2r38	A	C	7: 9,078,354 (GRCm39)	V676G	probably damaging	Het
Vmn2r87	A	T	10: 130,307,992 (GRCm39)	Y749N	probably damaging	Het
Vps13d	A	T	4: 144,842,073 (GRCm39)	S2615R		Het
Whrn	A	G	4: 63,334,330 (GRCm39)	V828A	possibly damaging	Het
Zbp1	A	G	2: 173,050,958 (GRCm39)	V304A	probably benign	Het
Zeb2	A	T	2: 44,886,359 (GRCm39)	N899K	probably benign	Het
Zfp148	T	C	16: 33,317,511 (GRCm39)	S728P	possibly damaging	Het
Zfp518a	T	A	19: 40,902,207 (GRCm39)	I712N	possibly damaging	Het
Zfp683	T	C	4: 133,786,211 (GRCm39)	V446A	probably benign	Het
Zranb3	A	T	1: 127,891,588 (GRCm39)	V796D	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
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'- TGAAGGCTTCCAAACACTCC -3'
(R):5'- AGTATGACCAGCTGACACCC -3'

Sequencing Primer
(F):5'- AGGCTTCCAAACACTCCCTTCC -3'
(R):5'- AGGTGTGTCCAGTCCCCAAG -3'

Posted On

2019-10-07