Incidental Mutation 'IGL02799:Strc'
ID 392255
Institutional Source Beutler Lab
Gene Symbol Strc
Ensembl Gene ENSMUSG00000033498
Gene Name stereocilin
Synonyms DFNB16
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # IGL02799 (G1)
Quality Score 109
Status Validated
Chromosome 2
Chromosomal Location 121193729-121211851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 121209717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 202 (T202I)
Ref Sequence ENSEMBL: ENSMUSP00000039378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038389] [ENSMUST00000129136]
AlphaFold Q8VIM6
Predicted Effect probably damaging
Transcript: ENSMUST00000038389
AA Change: T202I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039378
Gene: ENSMUSG00000033498
AA Change: T202I

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
Meta Mutation Damage Score 0.1220 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (67/68)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A G 6: 86,083,234 (GRCm39) N444S possibly damaging Het
Atp2b2 A T 6: 113,739,813 (GRCm39) Y823* probably null Het
Atp2c1 A C 9: 105,290,242 (GRCm39) probably benign Het
Capns1 A T 7: 29,891,644 (GRCm39) D133E probably benign Het
Cast A G 13: 74,884,871 (GRCm39) V361A probably damaging Het
Cd69 G A 6: 129,245,223 (GRCm39) probably benign Het
Celsr2 T A 3: 108,321,378 (GRCm39) D478V probably damaging Het
Cenpf T C 1: 189,391,849 (GRCm39) E661G probably damaging Het
Chrna1 A G 2: 73,404,985 (GRCm39) probably benign Het
Clec5a C A 6: 40,554,983 (GRCm39) V138F probably damaging Het
Ctsj T A 13: 61,151,634 (GRCm39) I95F probably benign Het
Dcaf1 T A 9: 106,735,139 (GRCm39) S696T probably benign Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dnajc14 C T 10: 128,642,725 (GRCm39) P216S possibly damaging Het
Dst T C 1: 34,218,930 (GRCm39) I1790T possibly damaging Het
Ehmt1 A T 2: 24,705,818 (GRCm39) H789Q probably damaging Het
Exoc7 A T 11: 116,192,007 (GRCm39) L188Q probably damaging Het
Faap100 A G 11: 120,261,561 (GRCm39) L823P probably damaging Het
Fdxacb1 T A 9: 50,683,896 (GRCm39) S620T probably benign Het
Fhl2 C T 1: 43,167,562 (GRCm39) R177Q probably benign Het
Gars1 C A 6: 55,040,084 (GRCm39) T337K probably damaging Het
Ggta1 A T 2: 35,312,211 (GRCm39) F56I probably damaging Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gpr108 T A 17: 57,544,482 (GRCm39) I343F probably damaging Het
Gpr12 T A 5: 146,520,629 (GRCm39) I98F possibly damaging Het
Hk2 A G 6: 82,737,219 (GRCm39) L3P probably damaging Het
Imp4 C A 1: 34,479,258 (GRCm39) probably benign Het
Insrr G A 3: 87,720,888 (GRCm39) V1049M probably damaging Het
Klhl24 T C 16: 19,933,331 (GRCm39) V314A probably damaging Het
Krt32 A T 11: 99,978,733 (GRCm39) V107D possibly damaging Het
Krtap5-1 G A 7: 141,850,242 (GRCm39) Q189* probably null Het
Lrrc9 A G 12: 72,553,178 (GRCm39) E1360G probably damaging Het
Mdc1 G T 17: 36,157,083 (GRCm39) L163F possibly damaging Het
Mroh1 T G 15: 76,276,661 (GRCm39) probably null Het
Myh8 A G 11: 67,192,418 (GRCm39) probably benign Het
Ndufab1 A T 7: 121,692,949 (GRCm39) probably benign Het
Nek3 A G 8: 22,648,735 (GRCm39) probably benign Het
Ngly1 A T 14: 16,260,636 (GRCm38) I107L probably benign Het
Nkain4 A T 2: 180,577,728 (GRCm39) probably null Het
Nsd2 T A 5: 34,022,132 (GRCm39) probably benign Het
Or4n4 A G 14: 50,518,801 (GRCm39) I303T probably benign Het
Or5e1 A T 7: 108,354,830 (GRCm39) M256L probably benign Het
Or5t9 A T 2: 86,659,300 (GRCm39) H68L probably damaging Het
Or7e166 T A 9: 19,624,314 (GRCm39) Y64N probably damaging Het
Or8b12 T A 9: 37,657,805 (GRCm39) I125N probably damaging Het
Pcnt G A 10: 76,248,417 (GRCm39) Q901* probably null Het
Pctp C A 11: 89,881,913 (GRCm39) W81C probably damaging Het
Pik3r5 A T 11: 68,386,773 (GRCm39) I801F probably damaging Het
Ptprj A T 2: 90,299,942 (GRCm39) N193K probably benign Het
Rab11fip1 A T 8: 27,642,788 (GRCm39) D670E probably benign Het
Racgap1 T C 15: 99,530,628 (GRCm39) K201E probably benign Het
Ranbp2 T C 10: 58,316,086 (GRCm39) F2269L probably damaging Het
Rint1 C A 5: 24,024,478 (GRCm39) A760D possibly damaging Het
Ryr2 G A 13: 11,680,848 (GRCm39) P3166S probably damaging Het
Snap29 A G 16: 17,240,367 (GRCm39) N158D probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,657,473 (GRCm39) probably benign Het
Stxbp4 A G 11: 90,385,426 (GRCm39) probably null Het
Syne1 A T 10: 5,309,059 (GRCm39) M650K probably damaging Het
Tbc1d2b C T 9: 90,105,487 (GRCm39) probably benign Het
Tcfl5 A T 2: 180,280,419 (GRCm39) I328N possibly damaging Het
Tenm2 A G 11: 36,164,235 (GRCm39) Y337H probably damaging Het
Tgfbr2 T C 9: 115,939,204 (GRCm39) K233E possibly damaging Het
Tnk2 T C 16: 32,484,699 (GRCm39) probably benign Het
Trbv13-2 A G 6: 41,098,471 (GRCm39) probably benign Het
Tut4 T C 4: 108,370,725 (GRCm39) Y875H probably benign Het
Usp6nl T A 2: 6,432,360 (GRCm39) probably benign Het
Vmn2r62 A G 7: 42,437,396 (GRCm39) S363P possibly damaging Het
Vnn3 T C 10: 23,727,869 (GRCm39) I93T possibly damaging Het
Ylpm1 A G 12: 85,091,258 (GRCm39) D1108G probably damaging Het
Zbtb17 G A 4: 141,190,691 (GRCm39) G170S probably benign Het
Zfyve26 T C 12: 79,320,084 (GRCm39) E1087G probably benign Het
Other mutations in Strc
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- ATGAGTGACTCGCAGTAGCC -3'
(R):5'- AATGCTAGGGCTTCTGGGAG -3'

Sequencing Primer
(F):5'- AGTAGCCCCTCCTGGAAG -3'
(R):5'- AACAGACTCCCCGGGACTTTTTG -3'
Posted On 2016-06-09