Mutagenetix > Incidental Mutation

Incidental Mutation 'R7190:Strc'

559528

Institutional Source

Beutler Lab

Gene Symbol

Strc

Ensembl Gene

ENSMUSG00000033498

Gene Name

stereocilin

Synonyms

DFNB16

MMRRC Submission

045273-MU

Accession Numbers

Essential gene?

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

Stock #

R7190 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121193729-121211851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 121199507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1311 (I1311L)

Ref Sequence

ENSEMBL: ENSMUSP00000039378 (fasta)

Gene Model

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

AlphaFold

Q8VIM6

Predicted Effect

probably benign
Transcript: ENSMUST00000038389
AA Change: I1311L

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000039378
Gene: ENSMUSG00000033498
AA Change: I1311L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (50/50)

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
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Add3	C	T	19: 53,205,330 (GRCm39)	R27*	probably null	Het
Armc3	T	A	2: 19,297,947 (GRCm39)	Y573N	probably damaging	Het
Bod1l	A	C	5: 41,977,281 (GRCm39)	N1344K	probably benign	Het
Camta1	T	G	4: 151,232,980 (GRCm39)	N231T	possibly damaging	Het
Capza2	T	A	6: 17,654,120 (GRCm39)	Y57*	probably null	Het
Ccdc168	A	C	1: 44,100,775 (GRCm39)	S108A	probably benign	Het
Ccdc186	T	A	19: 56,780,432 (GRCm39)	I871F	probably damaging	Het
Cntnap5b	A	G	1: 100,359,574 (GRCm39)		probably null	Het
Dnah2	G	T	11: 69,439,923 (GRCm39)		probably null	Het
Fhod3	T	C	18: 25,223,812 (GRCm39)	F1053L	probably damaging	Het
Foxj1	A	G	11: 116,223,201 (GRCm39)	Y201H	possibly damaging	Het
Gatad2b	T	A	3: 90,257,722 (GRCm39)	I210N	probably benign	Het
Gba1	T	A	3: 89,111,669 (GRCm39)	I112N	probably damaging	Het
Gbp2	T	C	3: 142,339,208 (GRCm39)	V420A	probably benign	Het
Golga3	T	A	5: 110,357,721 (GRCm39)	H1072Q	probably damaging	Het
Gpr150	C	T	13: 76,203,992 (GRCm39)	A318T	probably benign	Het
Gpr6	T	C	10: 40,946,956 (GRCm39)	N209D	probably damaging	Het
Grin2b	T	C	6: 135,709,946 (GRCm39)	N1200S	possibly damaging	Het
Ifi207	G	A	1: 173,557,818 (GRCm39)	H307Y	unknown	Het
Il20ra	A	T	10: 19,618,689 (GRCm39)	I46F	probably damaging	Het
Lvrn	A	G	18: 47,033,570 (GRCm39)	D927G	probably benign	Het
Nlrc4	G	T	17: 74,752,198 (GRCm39)	D728E	probably damaging	Het
Nup107	T	C	10: 117,598,040 (GRCm39)	D630G	probably benign	Het
Or1e19	A	T	11: 73,315,990 (GRCm39)	I273N	probably benign	Het
Or6c5c	T	C	10: 129,298,626 (GRCm39)	I27T	probably benign	Het
Pclo	C	A	5: 14,729,743 (GRCm39)	A2867D	unknown	Het
Perm1	A	G	4: 156,304,272 (GRCm39)	T754A	possibly damaging	Het
Plpbp	G	T	8: 27,541,325 (GRCm39)	V162L	probably benign	Het
Plscr4	A	T	9: 92,370,694 (GRCm39)	E220D	probably benign	Het
Ppp2r3d	A	T	9: 101,089,726 (GRCm39)	M199K	probably benign	Het
Pramel38	T	G	5: 94,366,096 (GRCm39)	N71K	probably benign	Het
Rassf6	T	C	5: 90,754,666 (GRCm39)	E204G	probably damaging	Het
Reln	A	C	5: 22,252,945 (GRCm39)	D667E	probably damaging	Het
Rere	A	G	4: 150,695,410 (GRCm39)	I462V	unknown	Het
Rpain	A	G	11: 70,862,735 (GRCm39)	E76G	possibly damaging	Het
Svil	A	G	18: 5,092,937 (GRCm39)	M1385V	probably benign	Het
Syne2	T	A	12: 76,113,361 (GRCm39)	D1083E	probably benign	Het
Szt2	T	A	4: 118,246,203 (GRCm39)	H986L	probably damaging	Het
Tcl1b2	G	T	12: 105,113,493 (GRCm39)		probably null	Het
Thy1	T	A	9: 43,958,222 (GRCm39)	S117T	possibly damaging	Het
Tmem183a	A	T	1: 134,282,496 (GRCm39)	I203N	probably damaging	Het
Tmprss11g	T	C	5: 86,644,491 (GRCm39)	I118V	probably benign	Het
Tsen34	T	C	7: 3,697,806 (GRCm39)	V69A	possibly damaging	Het
Ttn	T	C	2: 76,717,143 (GRCm39)	Q7506R	unknown	Het
Vmn1r184	T	C	7: 25,967,105 (GRCm39)	S284P	probably damaging	Het
Wdr19	A	G	5: 65,398,205 (GRCm39)	D810G	probably benign	Het
Zer1	T	C	2: 29,993,444 (GRCm39)	D554G	probably damaging	Het
Zfp626	A	T	7: 27,517,768 (GRCm39)	T250S	probably benign	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
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
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'- AGCGGCAGATCTAGAAAGCC -3'
(R):5'- AACTGGCTCAGGACTATTGGATG -3'

Sequencing Primer
(F):5'- TCTAGGACTTGGGCCTCAAAG -3'
(R):5'- CTCAGGACTATTGGATGTCAGTTC -3'

Posted On

2019-06-26