Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02455:Strc'

293832

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Strc

Ensembl Gene

ENSMUSG00000033498

Gene Name

stereocilin

Synonyms

DFNB16

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

IGL02455

Quality Score

Status

Chromosome

Chromosomal Location

121193729-121211851 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 121206272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038389] [ENSMUST00000129136]

AlphaFold

Q8VIM6

Predicted Effect

probably benign
Transcript: ENSMUST00000038389

SMART Domains

Protein: ENSMUSP00000039378
Gene: ENSMUSG00000033498

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: ENSMUST00000129136

SMART Domains

Protein: ENSMUSP00000118211
Gene: ENSMUSG00000033498

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134443

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150332

Coding Region Coverage

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	G	17: 36,271,021 (GRCm39)	V479A	probably damaging	Het
Adam18	T	C	8: 25,141,864 (GRCm39)	D235G	probably damaging	Het
Cdh22	T	C	2: 164,984,175 (GRCm39)	N359S	possibly damaging	Het
Cebpz	G	T	17: 79,242,465 (GRCm39)	N396K	probably benign	Het
Celsr3	T	A	9: 108,720,092 (GRCm39)	W2493R	probably benign	Het
Clca3a2	C	T	3: 144,787,172 (GRCm39)	V500M	probably benign	Het
Clec4a4	A	C	6: 122,990,739 (GRCm39)	N160H	possibly damaging	Het
Crb2	T	C	2: 37,684,576 (GRCm39)	S1139P	possibly damaging	Het
Dnah8	T	C	17: 30,891,308 (GRCm39)	I771T	probably damaging	Het
Etfbkmt	C	T	6: 149,048,724 (GRCm39)	A121V	probably damaging	Het
Fat4	T	A	3: 39,005,280 (GRCm39)	L1893Q	possibly damaging	Het
Fbxw13	A	T	9: 109,012,255 (GRCm39)	S188T	probably benign	Het
Fign	T	C	2: 63,810,841 (GRCm39)	D143G	probably benign	Het
Foxj3	C	A	4: 119,477,434 (GRCm39)	H381N	unknown	Het
Gpr158	A	T	2: 21,373,511 (GRCm39)	T149S	probably benign	Het
Ift74	C	T	4: 94,524,068 (GRCm39)	Q195*	probably null	Het
Kif2c	C	A	4: 117,029,551 (GRCm39)	M143I	probably benign	Het
Kmt2b	A	G	7: 30,278,303 (GRCm39)		probably null	Het
Krt84	C	T	15: 101,434,170 (GRCm39)	R599H	unknown	Het
Ly6g6f	C	T	17: 35,301,866 (GRCm39)	R196H	possibly damaging	Het
Map4	C	A	9: 109,828,901 (GRCm39)	N95K	probably benign	Het
Mrgprx3-ps	T	A	7: 46,959,263 (GRCm39)		noncoding transcript	Het
Mroh9	T	C	1: 162,903,149 (GRCm39)	M85V	probably benign	Het
Npffr2	T	C	5: 89,715,994 (GRCm39)	I107T	probably damaging	Het
Nrcam	T	C	12: 44,617,313 (GRCm39)	V737A	probably damaging	Het
Oprm1	A	G	10: 6,780,219 (GRCm39)	T294A	probably damaging	Het
Or10d5j	T	C	9: 39,868,198 (GRCm39)	E11G	probably damaging	Het
Or5w17	A	T	2: 87,583,927 (GRCm39)	S137T	possibly damaging	Het
Or7g32	C	T	9: 19,408,559 (GRCm39)	Q172*	probably null	Het
Parvg	A	G	15: 84,214,283 (GRCm39)	R156G	possibly damaging	Het
Pclo	T	C	5: 14,590,189 (GRCm39)	S830P	unknown	Het
Pde11a	T	C	2: 75,988,737 (GRCm39)	D468G	possibly damaging	Het
Peak1	A	T	9: 56,134,757 (GRCm39)	S195T	possibly damaging	Het
Pkhd1	A	G	1: 20,434,425 (GRCm39)	Y2338H	probably damaging	Het
Ppp1r1b	A	T	11: 98,241,395 (GRCm39)	I28F	probably damaging	Het
Prpf8	A	G	11: 75,400,084 (GRCm39)	Y2326C	probably benign	Het
Psmd1	T	A	1: 86,006,302 (GRCm39)	L223I	probably damaging	Het
Runx3	T	A	4: 134,902,841 (GRCm39)	Y310N	probably damaging	Het
Secisbp2l	C	T	2: 125,615,398 (GRCm39)	D76N	possibly damaging	Het
Slfn4	A	T	11: 83,077,584 (GRCm39)	N124I	probably damaging	Het
Spata13	G	A	14: 60,944,163 (GRCm39)	V519I	probably benign	Het
Ssh3	C	T	19: 4,314,460 (GRCm39)	E365K	probably damaging	Het
Tdp2	T	A	13: 25,025,245 (GRCm39)	I338N	probably damaging	Het
Vmn1r13	A	T	6: 57,187,457 (GRCm39)	R205S	probably damaging	Het
Wdr19	G	T	5: 65,382,102 (GRCm39)	A441S	probably benign	Het
Ylpm1	A	G	12: 85,077,037 (GRCm39)	D796G	probably damaging	Het
Zbtb11	T	C	16: 55,821,038 (GRCm39)	S712P	probably damaging	Het
Zcchc14	A	G	8: 122,333,009 (GRCm39)		probably benign	Het
Zfp608	T	G	18: 55,032,405 (GRCm39)	S512R	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
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
R4563:Strc	UTSW	2	121,196,286 (GRCm39)	missense	probably benign	0.02
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

Posted On

2015-04-16