Mutagenetix > Incidental Mutation

Incidental Mutation 'R1343:Strc'

156422

Institutional Source

Beutler Lab

Gene Symbol

Strc

Ensembl Gene

ENSMUSG00000033498

Gene Name

stereocilin

Synonyms

DFNB16

MMRRC Submission

039408-MU

Accession Numbers

Essential gene?

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

Stock #

R1343 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121193729-121211851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121195596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1618 (S1618G)

Ref Sequence

ENSEMBL: ENSMUSP00000039378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000317] [ENSMUST00000038389] [ENSMUST00000078222] [ENSMUST00000126130] [ENSMUST00000129130] [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: S1618G

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000039378
Gene: ENSMUSG00000033498
AA Change: S1618G

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: ENSMUST00000129130

SMART Domains

Protein: ENSMUSP00000123130
Gene: ENSMUSG00000000308

Domain	Start	End	E-Value	Type
low complexity region	6	32	N/A	INTRINSIC
Pfam:ATP-gua_PtransN	86	165	5.7e-40	PFAM

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: ENSMUST00000145380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153040

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankle2	T	C	5: 110,385,832 (GRCm39)	V361A	probably damaging	Het
Art1	A	G	7: 101,756,160 (GRCm39)	Y117C	probably damaging	Het
Cecr2	T	C	6: 120,731,672 (GRCm39)	Y215H	probably damaging	Het
Col6a3	T	C	1: 90,696,069 (GRCm39)	E2666G	unknown	Het
Cps1	T	A	1: 67,248,768 (GRCm39)	V1165E	probably damaging	Het
Gpr65	A	T	12: 98,241,888 (GRCm39)	K180N	probably benign	Het
Gsto2	A	T	19: 47,873,146 (GRCm39)		probably null	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Kif19a	A	G	11: 114,676,653 (GRCm39)	D494G	probably benign	Het
Lnx1	T	C	5: 74,758,040 (GRCm39)	R695G	probably damaging	Het
Lonp1	A	G	17: 56,927,272 (GRCm39)	L327P	probably damaging	Het
Nat8	T	C	6: 85,807,603 (GRCm39)	T177A	probably damaging	Het
Nek1	T	A	8: 61,481,709 (GRCm39)	M208K	probably damaging	Het
Obsl1	G	T	1: 75,469,223 (GRCm39)	H1239Q	probably damaging	Het
Or52n2b	A	G	7: 104,565,834 (GRCm39)	I223T	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Prmt3	C	T	7: 49,467,856 (GRCm39)	S354L	probably benign	Het
Ralgapa1	T	A	12: 55,754,763 (GRCm39)	H1176L	probably damaging	Het
Serpinb9h	G	A	13: 33,588,468 (GRCm39)	C351Y	possibly damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Syne2	T	C	12: 76,080,417 (GRCm39)	S4784P	probably damaging	Het
Usp14	T	C	18: 10,016,623 (GRCm39)	T73A	probably benign	Het
Vmn2r53	G	A	7: 12,318,701 (GRCm39)	P458L	probably benign	Het
Zfp292	T	C	4: 34,805,238 (GRCm39)	D2602G	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
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

Predicted Primers

PCR Primer
(F):5'- TGACAAACTGTGGCCCAGCTTC -3'
(R):5'- ACACTGTGACCTTAGGACCTGACTC -3'

Sequencing Primer
(F):5'- ATTTCAGTGAAGATCTCAGGCCC -3'
(R):5'- CCGTTTATTCCCCACGATGT -3'

Posted On

2014-02-11