Incidental Mutation 'IGL02455:Strc'
ID293832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Strc
Ensembl Gene ENSMUSG00000033498
Gene Namestereocilin
SynonymsDFNB16
Accession Numbers

Genbank: NM_080459; MGI: 2153816

Is this an essential gene? Probably non essential (E-score: 0.236) question?
Stock #IGL02455
Quality Score
Status
Chromosome2
Chromosomal Location121363728-121387168 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 121375791 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038389] [ENSMUST00000129136]
Predicted Effect probably benign
Transcript: ENSMUST00000038389
SMART Domains Protein: ENSMUSP00000039378
Gene: ENSMUSG00000033498

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A G 17: 35,960,129 V479A probably damaging Het
Adam18 T C 8: 24,651,848 D235G probably damaging Het
Cdh22 T C 2: 165,142,255 N359S possibly damaging Het
Cebpz G T 17: 78,935,036 N396K probably benign Het
Celsr3 T A 9: 108,842,893 W2493R probably benign Het
Clca2 C T 3: 145,081,411 V500M probably benign Het
Clec4a4 A C 6: 123,013,780 N160H possibly damaging Het
Crb2 T C 2: 37,794,564 S1139P possibly damaging Het
Dnah8 T C 17: 30,672,334 I771T probably damaging Het
Etfbkmt C T 6: 149,147,226 A121V probably damaging Het
Fat4 T A 3: 38,951,131 L1893Q possibly damaging Het
Fbxw13 A T 9: 109,183,187 S188T probably benign Het
Fign T C 2: 63,980,497 D143G probably benign Het
Foxj3 C A 4: 119,620,237 H381N unknown Het
Gpr158 A T 2: 21,368,700 T149S probably benign Het
Ift74 C T 4: 94,635,831 Q195* probably null Het
Kif2c C A 4: 117,172,354 M143I probably benign Het
Kmt2b A G 7: 30,578,878 probably null Het
Krt84 C T 15: 101,525,735 R599H unknown Het
Ly6g6f C T 17: 35,082,890 R196H possibly damaging Het
Map4 C A 9: 109,999,833 N95K probably benign Het
Mrgprx3-ps T A 7: 47,309,515 noncoding transcript Het
Mroh9 T C 1: 163,075,580 M85V probably benign Het
Npffr2 T C 5: 89,568,135 I107T probably damaging Het
Nrcam T C 12: 44,570,530 V737A probably damaging Het
Olfr1141 A T 2: 87,753,583 S137T possibly damaging Het
Olfr851 C T 9: 19,497,263 Q172* probably null Het
Olfr976 T C 9: 39,956,902 E11G probably damaging Het
Oprm1 A G 10: 6,830,219 T294A probably damaging Het
Parvg A G 15: 84,330,082 R156G possibly damaging Het
Pclo T C 5: 14,540,175 S830P unknown Het
Pde11a T C 2: 76,158,393 D468G possibly damaging Het
Peak1 A T 9: 56,227,473 S195T possibly damaging Het
Pkhd1 A G 1: 20,364,201 Y2338H probably damaging Het
Ppp1r1b A T 11: 98,350,569 I28F probably damaging Het
Prpf8 A G 11: 75,509,258 Y2326C probably benign Het
Psmd1 T A 1: 86,078,580 L223I probably damaging Het
Runx3 T A 4: 135,175,530 Y310N probably damaging Het
Secisbp2l C T 2: 125,773,478 D76N possibly damaging Het
Slfn4 A T 11: 83,186,758 N124I probably damaging Het
Spata13 G A 14: 60,706,714 V519I probably benign Het
Ssh3 C T 19: 4,264,432 E365K probably damaging Het
Tdp2 T A 13: 24,841,262 I338N probably damaging Het
Vmn1r13 A T 6: 57,210,472 R205S probably damaging Het
Wdr19 G T 5: 65,224,759 A441S probably benign Het
Ylpm1 A G 12: 85,030,263 D796G probably damaging Het
Zbtb11 T C 16: 56,000,675 S712P probably damaging Het
Zcchc14 A G 8: 121,606,270 probably benign Het
Zfp608 T G 18: 54,899,333 S512R probably damaging Het
Other mutations in Strc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Strc APN 2 121365060 missense probably benign 0.39
IGL01152:Strc APN 2 121370795 missense probably benign
IGL01608:Strc APN 2 121375594 missense probably benign 0.05
IGL01695:Strc APN 2 121375298 missense probably damaging 1.00
IGL01715:Strc APN 2 121365737 splice site probably null
IGL01906:Strc APN 2 121377634 missense probably benign
IGL02135:Strc APN 2 121364834 missense probably damaging 1.00
IGL02416:Strc APN 2 121369058 missense probably damaging 1.00
IGL03029:Strc APN 2 121364044 missense possibly damaging 0.95
IGL03176:Strc APN 2 121372180 missense probably damaging 0.99
IGL03272:Strc APN 2 121371751 missense probably damaging 1.00
3-1:Strc UTSW 2 121373680 missense probably damaging 0.99
IGL02799:Strc UTSW 2 121379236 missense probably damaging 1.00
PIT4283001:Strc UTSW 2 121375307 missense probably damaging 1.00
R0022:Strc UTSW 2 121368393 missense probably damaging 1.00
R0494:Strc UTSW 2 121379533 missense probably damaging 0.99
R1065:Strc UTSW 2 121366651 missense probably damaging 1.00
R1148:Strc UTSW 2 121372077 intron probably benign
R1148:Strc UTSW 2 121372077 intron probably benign
R1203:Strc UTSW 2 121372123 missense possibly damaging 0.66
R1343:Strc UTSW 2 121365115 missense probably benign 0.21
R1544:Strc UTSW 2 121372738 splice site probably null
R1650:Strc UTSW 2 121380885 start gained probably benign
R1840:Strc UTSW 2 121379296 missense probably damaging 1.00
R1983:Strc UTSW 2 121371037 missense possibly damaging 0.54
R2035:Strc UTSW 2 121374934 missense probably damaging 1.00
R2058:Strc UTSW 2 121378887 missense probably damaging 1.00
R2158:Strc UTSW 2 121365862 missense probably benign 0.10
R2219:Strc UTSW 2 121364523 missense probably damaging 1.00
R2680:Strc UTSW 2 121365111 missense probably damaging 0.99
R4375:Strc UTSW 2 121380823 missense unknown
R4563:Strc UTSW 2 121365805 missense probably benign 0.02
R4578:Strc UTSW 2 121378003 missense possibly damaging 0.94
R4607:Strc UTSW 2 121372945 missense probably benign 0.31
R4651:Strc UTSW 2 121374348 missense possibly damaging 0.67
R4652:Strc UTSW 2 121374348 missense possibly damaging 0.67
R4790:Strc UTSW 2 121375594 missense probably benign 0.05
R5480:Strc UTSW 2 121364819 missense probably benign 0.00
R5580:Strc UTSW 2 121375012 missense probably damaging 0.99
R5679:Strc UTSW 2 121368100 missense probably benign 0.03
R5703:Strc UTSW 2 121370814 missense probably benign
R5841:Strc UTSW 2 121365877 missense probably benign 0.29
R5917:Strc UTSW 2 121379309 missense probably benign
R5958:Strc UTSW 2 121376922 missense possibly damaging 0.56
R6320:Strc UTSW 2 121374958 missense probably benign 0.16
R6619:Strc UTSW 2 121368432 missense probably damaging 0.99
R6695:Strc UTSW 2 121377224 missense probably benign 0.35
R6970:Strc UTSW 2 121378014 missense probably benign 0.41
R7018:Strc UTSW 2 121369058 missense probably damaging 1.00
R7045:Strc UTSW 2 121370726 missense probably damaging 1.00
R7190:Strc UTSW 2 121369026 missense probably benign 0.14
R7283:Strc UTSW 2 121379452 missense probably damaging 0.99
R7694:Strc UTSW 2 121377096 missense probably damaging 1.00
R7699:Strc UTSW 2 121371748 missense possibly damaging 0.47
R7700:Strc UTSW 2 121371748 missense possibly damaging 0.47
R7756:Strc UTSW 2 121370946 missense probably benign
R7758:Strc UTSW 2 121370946 missense probably benign
R7822:Strc UTSW 2 121377738 missense probably benign 0.01
R7830:Strc UTSW 2 121375049 missense probably damaging 0.99
R7953:Strc UTSW 2 121377363 missense probably damaging 0.99
R8137:Strc UTSW 2 121366738 missense probably damaging 0.98
R8394:Strc UTSW 2 121379009 missense probably benign 0.00
R8427:Strc UTSW 2 121377531 missense probably damaging 1.00
Z1176:Strc UTSW 2 121375521 missense probably damaging 0.98
Z1176:Strc UTSW 2 121379044 missense probably damaging 1.00
Posted On2015-04-16