Mutagenetix > Incidental Mutation

Incidental Mutation 'R9463:Ush1g'

715018

Institutional Source

Beutler Lab

Gene Symbol

Ush1g

Ensembl Gene

ENSMUSG00000045288

Gene Name

USH1 protein network component sans

Synonyms

Sans, js

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R9463 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115206018-115212867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115209056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 379 (L379F)

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: L379F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099326
Gene: ENSMUSG00000045288
AA Change: L379F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	C	T	14: 8,256,789 (GRCm38)	E25K	probably damaging	Het
Acss2	A	G	2: 155,392,032 (GRCm39)	Y218C	probably benign	Het
Armc8	C	T	9: 99,378,203 (GRCm39)		probably null	Het
Aspg	G	A	12: 112,089,824 (GRCm39)	G454D	probably damaging	Het
Atp9b	T	C	18: 80,809,051 (GRCm39)	T623A		Het
Cacna1e	A	G	1: 154,357,411 (GRCm39)	L655P	probably damaging	Het
Cant1	T	A	11: 118,302,281 (GRCm39)	N12I	probably damaging	Het
Cep63	T	C	9: 102,475,382 (GRCm39)	T445A	probably benign	Het
Clstn1	A	T	4: 149,698,564 (GRCm39)	D50V	possibly damaging	Het
Cnnm2	T	A	19: 46,750,990 (GRCm39)	I260N	probably damaging	Het
Col4a4	T	C	1: 82,431,076 (GRCm39)	M1609V	unknown	Het
Dand5	A	T	8: 85,542,938 (GRCm39)	C179*	probably null	Het
Dbndd1	A	G	8: 124,233,547 (GRCm39)	L153P	probably damaging	Het
Dnhd1	A	G	7: 105,306,454 (GRCm39)	I437V	probably benign	Het
Dnhd1	T	A	7: 105,344,223 (GRCm39)	S1856T	probably benign	Het
Dpp8	T	A	9: 64,973,700 (GRCm39)	Y641*	probably null	Het
Dthd1	G	A	5: 63,039,626 (GRCm39)	R676H	probably benign	Het
Efl1	C	T	7: 82,426,733 (GRCm39)	T1077M	probably damaging	Het
Eif3e	G	T	15: 43,138,709 (GRCm39)	Q83K	probably benign	Het
Firrm	A	T	1: 163,795,907 (GRCm39)	M428K	probably benign	Het
Gfm2	G	A	13: 97,286,910 (GRCm39)	A170T	probably damaging	Het
Gm14496	T	A	2: 181,642,256 (GRCm39)	H642Q	probably benign	Het
Gmip	G	A	8: 70,269,693 (GRCm39)	R596Q	possibly damaging	Het
Hook1	A	T	4: 95,910,510 (GRCm39)	Q708L	probably damaging	Het
Krtap9-3	G	A	11: 99,488,526 (GRCm39)	R119C	unknown	Het
Lnpk	A	C	2: 74,381,403 (GRCm39)		probably null	Het
Lrp1	G	T	10: 127,429,334 (GRCm39)	Y484*	probably null	Het
Lrrc8e	C	T	8: 4,285,185 (GRCm39)	P470L	probably damaging	Het
Mapre1	A	G	2: 153,606,960 (GRCm39)	N231D	probably benign	Het
Muc5b	T	A	7: 141,405,503 (GRCm39)	N937K	unknown	Het
Ndufaf7	T	C	17: 79,253,900 (GRCm39)		probably null	Het
Nlrp5	A	T	7: 23,118,225 (GRCm39)	I650F	probably benign	Het
Notch1	T	C	2: 26,359,845 (GRCm39)	D1290G	probably benign	Het
Or7g27	C	T	9: 19,250,320 (GRCm39)	A188V	possibly damaging	Het
Or8b46	T	C	9: 38,450,665 (GRCm39)	I158T	probably damaging	Het
Orc4	C	T	2: 48,826,783 (GRCm39)		probably null	Het
Plekhm2	A	G	4: 141,357,949 (GRCm39)	V664A	probably benign	Het
Pom121l2	T	G	13: 22,168,402 (GRCm39)	I891S	probably benign	Het
Prkcsh	T	C	9: 21,923,982 (GRCm39)	Y425H	probably damaging	Het
Prps1l1	A	C	12: 35,035,559 (GRCm39)	T225P	probably damaging	Het
Prr18	T	G	17: 8,560,324 (GRCm39)	V160G	probably damaging	Het
Psd2	T	A	18: 36,143,798 (GRCm39)	F701L	probably damaging	Het
Sclt1	T	C	3: 41,601,931 (GRCm39)	E593G	probably damaging	Het
Sdk1	T	C	5: 141,948,548 (GRCm39)	I631T	probably benign	Het
Sirt1	A	T	10: 63,171,487 (GRCm39)	D231E	probably benign	Het
Slc22a30	C	T	19: 8,378,259 (GRCm39)	C139Y	probably damaging	Het
Sntg1	T	A	1: 8,624,974 (GRCm39)	N274I	probably damaging	Het
Spocd1	A	G	4: 129,847,398 (GRCm39)	Q529R		Het
Trarg1	T	A	11: 76,571,098 (GRCm39)	L38Q	probably damaging	Het
Trbv3	T	A	6: 41,025,530 (GRCm39)	L40H	probably damaging	Het
Trpm6	T	C	19: 18,761,264 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,578,519 (GRCm39)	Y24125H	probably damaging	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn2r73	A	T	7: 85,506,795 (GRCm39)	M839K		Het
Wee1	T	C	7: 109,721,917 (GRCm39)	S121P	probably damaging	Het
Zfp608	T	C	18: 55,030,274 (GRCm39)	K1222R	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
R4789:Ush1g	UTSW	11	115,209,466 (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

Predicted Primers

PCR Primer
(F):5'- GCCGACTCCCATTCCTGAAAAG -3'
(R):5'- ACTATGTGAGCAGCGGGTTG -3'

Sequencing Primer
(F):5'- TGACACTCACAGCTCCGTG -3'
(R):5'- CTGCATAGTTCCCCCAG -3'

Posted On

2022-06-15