Mutagenetix > Incidental Mutation

Incidental Mutation 'R4563:Strc'

343184

Institutional Source

Beutler Lab

Gene Symbol

Strc

Ensembl Gene

ENSMUSG00000033498

Gene Name

stereocilin

Synonyms

DFNB16

MMRRC Submission

041788-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R4563 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121193729-121211851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121196286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1581 (T1581A)

Ref Sequence

ENSEMBL: ENSMUSP00000039378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000317] [ENSMUST00000038389] [ENSMUST00000078222] [ENSMUST00000126130] [ENSMUST00000129136] [ENSMUST00000150271]

AlphaFold

Q8VIM6

Predicted Effect

probably benign
Transcript: ENSMUST00000000317

SMART Domains

Protein: ENSMUSP00000000317
Gene: ENSMUSG00000000308

Domain	Start	End	E-Value	Type
low complexity region	6	32	N/A	INTRINSIC
Pfam:ATP-gua_PtransN	58	133	5.8e-34	PFAM
Pfam:ATP-gua_Ptrans	154	401	4.5e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038389
AA Change: T1581A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000039378
Gene: ENSMUSG00000033498
AA Change: T1581A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	74	87	N/A	INTRINSIC
low complexity region	108	119	N/A	INTRINSIC
low complexity region	132	161	N/A	INTRINSIC
low complexity region	277	291	N/A	INTRINSIC
low complexity region	376	425	N/A	INTRINSIC
low complexity region	610	635	N/A	INTRINSIC
low complexity region	656	677	N/A	INTRINSIC
low complexity region	728	746	N/A	INTRINSIC
low complexity region	898	921	N/A	INTRINSIC
low complexity region	1168	1194	N/A	INTRINSIC
low complexity region	1287	1302	N/A	INTRINSIC
low complexity region	1560	1580	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078222

SMART Domains

Protein: ENSMUSP00000077349
Gene: ENSMUSG00000000308

Domain	Start	End	E-Value	Type
low complexity region	6	32	N/A	INTRINSIC
Pfam:ATP-gua_PtransN	55	134	1.2e-37	PFAM
Pfam:ATP-gua_Ptrans	154	401	2e-105	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126130

SMART Domains

Protein: ENSMUSP00000117463
Gene: ENSMUSG00000000308

Domain	Start	End	E-Value	Type
low complexity region	6	32	N/A	INTRINSIC
low complexity region	39	54	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129136

SMART Domains

Protein: ENSMUSP00000118211
Gene: ENSMUSG00000033498

Domain	Start	End	E-Value	Type
low complexity region	26	49	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150271

SMART Domains

Protein: ENSMUSP00000120507
Gene: ENSMUSG00000000308

Domain	Start	End	E-Value	Type
low complexity region	6	32	N/A	INTRINSIC
Pfam:ATP-gua_PtransN	55	134	3.3e-38	PFAM
Pfam:ATP-gua_Ptrans	154	251	3.8e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153040

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (40/40)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit progressive hearing loss from P15 with abnormal cochlear outer hair cell stereociliary bundle morphology. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	G	12: 21,382,089 (GRCm39)	C591R	probably damaging	Het
Bace2	G	A	16: 97,223,180 (GRCm39)	R368Q	probably damaging	Het
Calm5	C	A	13: 3,904,402 (GRCm39)	S32*	probably null	Het
Ccdc198	T	A	14: 49,471,955 (GRCm39)	M152L	probably benign	Het
Cln3	G	T	7: 126,171,730 (GRCm39)	S346R	probably damaging	Het
G6pd2	G	A	5: 61,967,686 (GRCm39)	R487H	possibly damaging	Het
Glipr2	A	T	4: 43,977,600 (GRCm39)	N77Y	probably damaging	Het
Huwe1	A	T	X: 150,646,955 (GRCm39)	I682F	probably damaging	Het
Kbtbd2	A	G	6: 56,766,264 (GRCm39)	V37A	probably benign	Het
Kdm7a	C	T	6: 39,129,757 (GRCm39)	R473Q	probably damaging	Het
Lrrc71	T	A	3: 87,652,715 (GRCm39)		probably benign	Het
Mcm3	G	T	1: 20,879,869 (GRCm39)	R543S	probably benign	Het
Mgat4a	T	C	1: 37,505,660 (GRCm39)	D43G	probably damaging	Het
Mphosph8	T	C	14: 56,928,457 (GRCm39)	Y703H	probably benign	Het
Ncf2	T	C	1: 152,683,976 (GRCm39)		probably benign	Het
Nek6	T	G	2: 38,475,305 (GRCm39)	V282G	probably damaging	Het
Nhlrc1	T	C	13: 47,167,666 (GRCm39)	D197G	possibly damaging	Het
Nup93	G	T	8: 95,034,520 (GRCm39)	V612F	probably damaging	Het
Or5be3	C	T	2: 86,864,028 (GRCm39)	C179Y	probably damaging	Het
Or9i14	A	G	19: 13,792,646 (GRCm39)	F103L	probably benign	Het
Pafah1b2	T	C	9: 45,887,404 (GRCm39)	K36E	probably damaging	Het
Paqr9	A	G	9: 95,442,997 (GRCm39)	E329G	probably benign	Het
Pclo	A	G	5: 14,571,383 (GRCm39)	Q256R	probably damaging	Het
Pctp	A	T	11: 89,879,578 (GRCm39)	D94E	probably benign	Het
Pde8a	T	A	7: 80,958,568 (GRCm39)	Y315*	probably null	Het
Pex14	A	T	4: 149,126,225 (GRCm39)	V41D	probably damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Rasal2	T	C	1: 157,003,561 (GRCm39)	K366R	probably damaging	Het
Rprd1a	A	C	18: 24,640,160 (GRCm39)		probably null	Het
Senp8	A	C	9: 59,657,546 (GRCm39)	M1R	probably null	Het
Slc49a4	T	C	16: 35,518,312 (GRCm39)	Y467C	probably damaging	Het
Slco1b2	A	G	6: 141,616,893 (GRCm39)	T409A	probably benign	Het
Tmem117	T	C	15: 94,536,035 (GRCm39)	I23T	possibly damaging	Het
Ttc13	A	G	8: 125,402,016 (GRCm39)	L657P	probably damaging	Het
Ube4b	A	G	4: 149,443,622 (GRCm39)		probably benign	Het
Vmn1r125	A	G	7: 21,006,308 (GRCm39)	T69A	probably damaging	Het

Other mutations in Strc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01102:Strc	APN	2	121,195,541 (GRCm39)	missense	probably benign	0.39
IGL01152:Strc	APN	2	121,201,276 (GRCm39)	missense	probably benign
IGL01608:Strc	APN	2	121,206,075 (GRCm39)	missense	probably benign	0.05
IGL01695:Strc	APN	2	121,205,779 (GRCm39)	missense	probably damaging	1.00
IGL01715:Strc	APN	2	121,196,218 (GRCm39)	splice site	probably null
IGL01906:Strc	APN	2	121,208,115 (GRCm39)	missense	probably benign
IGL02135:Strc	APN	2	121,195,315 (GRCm39)	missense	probably damaging	1.00
IGL02416:Strc	APN	2	121,199,539 (GRCm39)	missense	probably damaging	1.00
IGL02455:Strc	APN	2	121,206,272 (GRCm39)	unclassified	probably benign
IGL03029:Strc	APN	2	121,194,525 (GRCm39)	missense	possibly damaging	0.95
IGL03176:Strc	APN	2	121,202,661 (GRCm39)	missense	probably damaging	0.99
IGL03272:Strc	APN	2	121,202,232 (GRCm39)	missense	probably damaging	1.00
3-1:Strc	UTSW	2	121,204,161 (GRCm39)	missense	probably damaging	0.99
IGL02799:Strc	UTSW	2	121,209,717 (GRCm39)	missense	probably damaging	1.00
PIT4283001:Strc	UTSW	2	121,205,788 (GRCm39)	missense	probably damaging	1.00
R0022:Strc	UTSW	2	121,198,874 (GRCm39)	missense	probably damaging	1.00
R0494:Strc	UTSW	2	121,210,014 (GRCm39)	missense	probably damaging	0.99
R1065:Strc	UTSW	2	121,197,132 (GRCm39)	missense	probably damaging	1.00
R1148:Strc	UTSW	2	121,202,558 (GRCm39)	intron	probably benign
R1148:Strc	UTSW	2	121,202,558 (GRCm39)	intron	probably benign
R1203:Strc	UTSW	2	121,202,604 (GRCm39)	missense	possibly damaging	0.66
R1343:Strc	UTSW	2	121,195,596 (GRCm39)	missense	probably benign	0.21
R1544:Strc	UTSW	2	121,203,219 (GRCm39)	splice site	probably null
R1650:Strc	UTSW	2	121,211,366 (GRCm39)	start gained	probably benign
R1840:Strc	UTSW	2	121,209,777 (GRCm39)	missense	probably damaging	1.00
R1983:Strc	UTSW	2	121,201,518 (GRCm39)	missense	possibly damaging	0.54
R2035:Strc	UTSW	2	121,205,415 (GRCm39)	missense	probably damaging	1.00
R2058:Strc	UTSW	2	121,209,368 (GRCm39)	missense	probably damaging	1.00
R2158:Strc	UTSW	2	121,196,343 (GRCm39)	missense	probably benign	0.10
R2219:Strc	UTSW	2	121,195,004 (GRCm39)	missense	probably damaging	1.00
R2680:Strc	UTSW	2	121,195,592 (GRCm39)	missense	probably damaging	0.99
R4375:Strc	UTSW	2	121,211,304 (GRCm39)	missense	unknown
R4578:Strc	UTSW	2	121,208,484 (GRCm39)	missense	possibly damaging	0.94
R4607:Strc	UTSW	2	121,203,426 (GRCm39)	missense	probably benign	0.31
R4651:Strc	UTSW	2	121,204,829 (GRCm39)	missense	possibly damaging	0.67
R4652:Strc	UTSW	2	121,204,829 (GRCm39)	missense	possibly damaging	0.67
R4790:Strc	UTSW	2	121,206,075 (GRCm39)	missense	probably benign	0.05
R5480:Strc	UTSW	2	121,195,300 (GRCm39)	missense	probably benign	0.00
R5580:Strc	UTSW	2	121,205,493 (GRCm39)	missense	probably damaging	0.99
R5679:Strc	UTSW	2	121,198,581 (GRCm39)	missense	probably benign	0.03
R5703:Strc	UTSW	2	121,201,295 (GRCm39)	missense	probably benign
R5841:Strc	UTSW	2	121,196,358 (GRCm39)	missense	probably benign	0.29
R5917:Strc	UTSW	2	121,209,790 (GRCm39)	missense	probably benign
R5958:Strc	UTSW	2	121,207,403 (GRCm39)	missense	possibly damaging	0.56
R6320:Strc	UTSW	2	121,205,439 (GRCm39)	missense	probably benign	0.16
R6619:Strc	UTSW	2	121,198,913 (GRCm39)	missense	probably damaging	0.99
R6695:Strc	UTSW	2	121,207,705 (GRCm39)	missense	probably benign	0.35
R6970:Strc	UTSW	2	121,208,495 (GRCm39)	missense	probably benign	0.41
R7018:Strc	UTSW	2	121,199,539 (GRCm39)	missense	probably damaging	1.00
R7045:Strc	UTSW	2	121,201,207 (GRCm39)	missense	probably damaging	1.00
R7190:Strc	UTSW	2	121,199,507 (GRCm39)	missense	probably benign	0.14
R7283:Strc	UTSW	2	121,209,933 (GRCm39)	missense	probably damaging	0.99
R7694:Strc	UTSW	2	121,207,577 (GRCm39)	missense	probably damaging	1.00
R7699:Strc	UTSW	2	121,202,229 (GRCm39)	missense	possibly damaging	0.47
R7700:Strc	UTSW	2	121,202,229 (GRCm39)	missense	possibly damaging	0.47
R7756:Strc	UTSW	2	121,201,427 (GRCm39)	missense	probably benign
R7758:Strc	UTSW	2	121,201,427 (GRCm39)	missense	probably benign
R7822:Strc	UTSW	2	121,208,219 (GRCm39)	missense	probably benign	0.01
R7830:Strc	UTSW	2	121,205,530 (GRCm39)	missense	probably damaging	0.99
R7953:Strc	UTSW	2	121,207,844 (GRCm39)	missense	probably damaging	0.99
R8137:Strc	UTSW	2	121,197,219 (GRCm39)	missense	probably damaging	0.98
R8394:Strc	UTSW	2	121,209,490 (GRCm39)	missense	probably benign	0.00
R8427:Strc	UTSW	2	121,208,012 (GRCm39)	missense	probably damaging	1.00
R8792:Strc	UTSW	2	121,208,286 (GRCm39)	missense	probably damaging	0.99
R8874:Strc	UTSW	2	121,205,353 (GRCm39)	critical splice donor site	probably null
R8947:Strc	UTSW	2	121,201,470 (GRCm39)	missense	probably benign	0.09
R9285:Strc	UTSW	2	121,195,279 (GRCm39)	missense	probably damaging	1.00
R9302:Strc	UTSW	2	121,211,336 (GRCm39)	missense	unknown
R9386:Strc	UTSW	2	121,198,211 (GRCm39)	missense	probably damaging	0.99
R9438:Strc	UTSW	2	121,198,647 (GRCm39)	missense	probably damaging	1.00
R9581:Strc	UTSW	2	121,207,928 (GRCm39)	missense	probably damaging	0.99
Z1176:Strc	UTSW	2	121,209,525 (GRCm39)	missense	probably damaging	1.00
Z1176:Strc	UTSW	2	121,206,002 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGGCCAGAAAGGATTGCATG -3'
(R):5'- CAGCCTTTCAGTAACCCCTG -3'

Sequencing Primer
(F):5'- CATGAGAAAATCCCTTGGGTCTG -3'
(R):5'- TTCAGTAACCCCTGAATCAGAG -3'

Posted On

2015-09-24