Mutagenetix > Incidental Mutation

Incidental Mutation 'R4789:Ush1g'

367344

Institutional Source

Beutler Lab

Gene Symbol

Ush1g

Ensembl Gene

ENSMUSG00000045288

Gene Name

USH1 protein network component sans

Synonyms

Sans, js

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R4789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115206018-115212867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115209466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 243 (S243T)

Ref Sequence

ENSEMBL: ENSMUSP00000099326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055490] [ENSMUST00000103037] [ENSMUST00000106544]

AlphaFold

Q80T11

Predicted Effect

probably benign
Transcript: ENSMUST00000055490

SMART Domains

Protein: ENSMUSP00000062109
Gene: ENSMUSG00000050201

Domain	Start	End	E-Value	Type
transmembrane domain	30	52	N/A	INTRINSIC
transmembrane domain	62	81	N/A	INTRINSIC
Pfam:Otopetrin	102	225	1e-18	PFAM
Pfam:Otopetrin	214	451	5.5e-20	PFAM
Pfam:Otopetrin	479	550	8.9e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000103037
AA Change: S243T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099326
Gene: ENSMUSG00000045288
AA Change: S243T

Domain	Start	End	E-Value	Type
ANK	31	60	1.83e-3	SMART
ANK	64	93	8.07e-5	SMART
ANK	97	126	6.26e-2	SMART
low complexity region	159	190	N/A	INTRINSIC
PDB:3PVL\|B	295	368	3e-30	PDB
SAM	385	449	1.34e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106544

SMART Domains

Protein: ENSMUSP00000102154
Gene: ENSMUSG00000050201

Domain	Start	End	E-Value	Type
transmembrane domain	30	52	N/A	INTRINSIC
transmembrane domain	62	81	N/A	INTRINSIC
Pfam:Otopetrin	102	450	7.9e-54	PFAM
Pfam:Otopetrin	476	550	2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139466

Coding Region Coverage

1x: 98.8%
3x: 98.4%
10x: 96.9%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with combined auditory and vision loss. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutant homozygotes exhibit hyperactivity, head-tossing, circling behavior and profound deafness. Structurally, mutants display disorganized stereocilia of outer ear hair cells and degeneration of inner ear neuroepithelia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	C	A	7: 115,692,757 (GRCm39)	D20E	probably benign	Het
Abcb9	T	A	5: 124,216,853 (GRCm39)	M455L	probably benign	Het
Add2	G	A	6: 86,095,752 (GRCm39)	V475M	probably benign	Het
Apoh	T	A	11: 108,300,064 (GRCm39)	Y238N	probably damaging	Het
Arpp21	A	G	9: 111,896,360 (GRCm39)	S681P	probably benign	Het
Atp1a3	A	C	7: 24,698,389 (GRCm39)	F149C	probably damaging	Het
B9d1	A	G	11: 61,397,186 (GRCm39)	D27G	probably benign	Het
Bfar	T	A	16: 13,503,001 (GRCm39)	M1K	probably null	Het
Bok	T	C	1: 93,616,963 (GRCm39)	V103A	probably damaging	Het
Brca1	A	C	11: 101,414,758 (GRCm39)	H1125Q	probably benign	Het
Card9	T	A	2: 26,247,632 (GRCm39)	M218L	probably damaging	Het
Cers1	T	C	8: 70,776,018 (GRCm39)	V303A	probably damaging	Het
Col6a5	T	C	9: 105,814,534 (GRCm39)	I493V	unknown	Het
Coro7	T	C	16: 4,446,085 (GRCm39)	Y880C	probably damaging	Het
Cyp2b19	T	C	7: 26,463,801 (GRCm39)	Y318H	probably benign	Het
Dennd3	T	A	15: 73,394,131 (GRCm39)	L52Q	probably damaging	Het
Dlat	A	T	9: 50,570,670 (GRCm39)	C33S	probably benign	Het
Dmxl2	T	A	9: 54,287,099 (GRCm39)	Q2646L	probably benign	Het
Dnah3	T	C	7: 119,610,295 (GRCm39)	N1703D	probably damaging	Het
Dock10	T	A	1: 80,518,998 (GRCm39)	H1241L	probably damaging	Het
Fbxl17	T	G	17: 63,794,910 (GRCm39)	I391L	probably benign	Het
Fdxacb1	A	G	9: 50,681,418 (GRCm39)	D113G	possibly damaging	Het
Flii	A	G	11: 60,605,919 (GRCm39)	S1185P	probably benign	Het
Gm14496	A	T	2: 181,637,577 (GRCm39)	Q217L	possibly damaging	Het
Heatr9	A	T	11: 83,410,018 (GRCm39)	D74E	probably benign	Het
Heca	C	A	10: 17,783,895 (GRCm39)	E91*	probably null	Het
Ikzf4	T	G	10: 128,468,575 (GRCm39)	T635P	probably benign	Het
Kif17	C	T	4: 138,008,688 (GRCm39)	P382S	probably damaging	Het
Kmt5b	T	C	19: 3,865,330 (GRCm39)	V775A	probably benign	Het
Mapk8ip2	T	A	15: 89,343,241 (GRCm39)	F661Y	probably damaging	Het
Mapkap1	A	G	2: 34,423,859 (GRCm39)	E111G	possibly damaging	Het
Med9	T	A	11: 59,839,266 (GRCm39)	N58K	probably benign	Het
Mid2	T	A	X: 139,578,981 (GRCm39)	Y61N	probably damaging	Het
Mief1	T	A	15: 80,132,080 (GRCm39)	Y50*	probably null	Het
Mios	T	C	6: 8,235,429 (GRCm39)	M859T	probably benign	Het
Muc5ac	G	T	7: 141,352,619 (GRCm39)	C702F	possibly damaging	Het
Nkiras1	T	C	14: 18,276,935 (GRCm38)		probably benign	Het
Or11i1	A	C	3: 106,729,608 (GRCm39)	I89R	possibly damaging	Het
Or11i1	T	A	3: 106,729,624 (GRCm39)	M84L	possibly damaging	Het
Or56a3b	T	G	7: 104,771,520 (GRCm39)	H285Q	probably null	Het
Or5ae2	T	A	7: 84,506,509 (GRCm39)	C311S	probably benign	Het
Pcsk5	C	T	19: 17,410,963 (GRCm39)	V1810M	probably benign	Het
Pex1	T	C	5: 3,680,270 (GRCm39)	V964A	probably damaging	Het
Pgm2l1	A	T	7: 99,916,794 (GRCm39)	M471L	probably benign	Het
Pkd1l2	T	C	8: 117,738,314 (GRCm39)	T2182A	probably damaging	Het
Plscr1l1	G	A	9: 92,233,084 (GRCm39)	C69Y	probably damaging	Het
Polr1b	T	A	2: 128,951,257 (GRCm39)	I290K	probably benign	Het
Prkg1	T	A	19: 31,563,045 (GRCm39)	M119L	probably damaging	Het
Rbl1	A	G	2: 157,019,275 (GRCm39)	V490A	probably benign	Het
Shtn1	G	C	19: 59,039,305 (GRCm39)	R45G	probably damaging	Het
Slc10a6	T	A	5: 103,776,848 (GRCm39)	Y84F	probably benign	Het
Slc25a23	T	C	17: 57,366,597 (GRCm39)	D26G	probably damaging	Het
Slc41a2	T	C	10: 83,152,320 (GRCm39)	K52E	probably damaging	Het
Slc4a5	T	C	6: 83,247,951 (GRCm39)	F501L	probably benign	Het
Slfn5	T	A	11: 82,847,226 (GRCm39)	M37K	probably benign	Het
Sptbn1	A	C	11: 30,067,759 (GRCm39)	F1818L	probably benign	Het
Taf3	T	C	2: 9,956,770 (GRCm39)	T466A	probably damaging	Het
Thbs2	C	T	17: 14,891,750 (GRCm39)	G929D	probably damaging	Het
Tmc3	A	T	7: 83,271,746 (GRCm39)	D995V	probably damaging	Het
Tmem262	T	C	19: 6,130,452 (GRCm39)	F59L	possibly damaging	Het
Triobp	A	G	15: 78,875,228 (GRCm39)	D137G	probably damaging	Het
Tspear	T	C	10: 77,702,199 (GRCm39)	F211L	possibly damaging	Het
Ttn	A	T	2: 76,728,670 (GRCm39)		probably benign	Het
Ugt2b5	T	A	5: 87,287,550 (GRCm39)	M206L	probably benign	Het
Usp19	A	T	9: 108,370,433 (GRCm39)	T86S	possibly damaging	Het
Wdhd1	A	G	14: 47,506,149 (GRCm39)	V255A	probably benign	Het
Wdr11	G	A	7: 129,220,394 (GRCm39)	W594*	probably null	Het
Wnk3	T	A	X: 149,993,933 (GRCm39)	Y331*	probably null	Het
Zfp429	A	T	13: 67,538,523 (GRCm39)	I307K	probably benign	Het
Zkscan14	T	A	5: 145,132,444 (GRCm39)	K362N	probably damaging	Het

Other mutations in Ush1g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01961:Ush1g	APN	11	115,209,361 (GRCm39)	missense	probably benign	0.00
IGL02055:Ush1g	APN	11	115,208,925 (GRCm39)	missense	possibly damaging	0.94
R0833:Ush1g	UTSW	11	115,209,694 (GRCm39)	missense	possibly damaging	0.71
R1435:Ush1g	UTSW	11	115,209,294 (GRCm39)	missense	probably damaging	1.00
R1969:Ush1g	UTSW	11	115,209,280 (GRCm39)	missense	probably damaging	1.00
R1971:Ush1g	UTSW	11	115,209,280 (GRCm39)	missense	probably damaging	1.00
R3546:Ush1g	UTSW	11	115,209,723 (GRCm39)	missense	probably damaging	1.00
R5074:Ush1g	UTSW	11	115,209,123 (GRCm39)	missense	possibly damaging	0.94
R5882:Ush1g	UTSW	11	115,209,368 (GRCm39)	missense	probably damaging	0.98
R7540:Ush1g	UTSW	11	115,209,399 (GRCm39)	missense	probably benign	0.01
R8841:Ush1g	UTSW	11	115,210,007 (GRCm39)	missense	probably damaging	1.00
R9308:Ush1g	UTSW	11	115,209,534 (GRCm39)	missense	probably damaging	1.00
R9463:Ush1g	UTSW	11	115,209,056 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCCTTCGAAACACCATGGTAC -3'
(R):5'- GACACTCTCAGCTTCTCCAG -3'

Sequencing Primer
(F):5'- CAAAGAGTCGTGGCCTGAGTC -3'
(R):5'- TCACGTCCAGCACCCTGAG -3'

Posted On

2015-12-29