Incidental Mutation 'R5040:Stac3'
ID 393179
Institutional Source Beutler Lab
Gene Symbol Stac3
Ensembl Gene ENSMUSG00000040287
Gene Name SH3 and cysteine rich domain 3
Synonyms
MMRRC Submission 042630-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5040 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 127337555-127344692 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127343993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 297 (I297T)
Ref Sequence ENSEMBL: ENSMUSP00000125124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035839] [ENSMUST00000160019]
AlphaFold Q8BZ71
Predicted Effect probably damaging
Transcript: ENSMUST00000035839
AA Change: I297T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048148
Gene: ENSMUSG00000040287
AA Change: I297T

DomainStartEndE-ValueType
low complexity region 35 46 N/A INTRINSIC
low complexity region 65 81 N/A INTRINSIC
C1 89 139 2.19e-7 SMART
low complexity region 199 213 N/A INTRINSIC
low complexity region 220 238 N/A INTRINSIC
SH3 246 301 1.41e-16 SMART
SH3 305 360 8.45e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000160019
AA Change: I297T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125124
Gene: ENSMUSG00000040287
AA Change: I297T

DomainStartEndE-ValueType
low complexity region 35 46 N/A INTRINSIC
low complexity region 65 81 N/A INTRINSIC
C1 89 139 2.19e-7 SMART
low complexity region 199 213 N/A INTRINSIC
low complexity region 220 238 N/A INTRINSIC
SH3 246 301 1.41e-16 SMART
SH3 305 360 8.45e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162302
Meta Mutation Damage Score 0.5925 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.2%
Validation Efficiency 98% (63/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]
PHENOTYPE: Homozygous inactivation of this gene leads to neonatal lethality, abnormal posture, thin diaphragm muscle, abnormal skeletal muscle morphology characterized by centralized nuclei and disorganized myofibrils, and impaired skeletal muscle contractility due to defective excitation-contraction coupling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,669,578 (GRCm39) Q159R probably benign Het
Ap2a1 T C 7: 44,555,228 (GRCm39) I446V possibly damaging Het
Areg A T 5: 91,292,198 (GRCm39) H166L possibly damaging Het
Arhgap15 T C 2: 43,734,825 (GRCm39) probably null Het
Arhgef17 T C 7: 100,526,032 (GRCm39) D874G probably benign Het
Cast T C 13: 74,872,932 (GRCm39) T452A probably damaging Het
Ccdc154 A T 17: 25,383,566 (GRCm39) T208S probably benign Het
Chst11 T A 10: 83,026,780 (GRCm39) L69Q probably benign Het
Clec2d G A 6: 129,161,793 (GRCm39) R142K probably damaging Het
Dis3l2 A T 1: 86,785,059 (GRCm39) I303F probably damaging Het
Dync2h1 A G 9: 6,992,625 (GRCm39) Y3979H probably benign Het
Ehmt1 A T 2: 24,774,316 (GRCm39) C162S probably benign Het
Eif4g3 G T 4: 137,824,200 (GRCm39) M239I probably damaging Het
Eif5 A G 12: 111,506,284 (GRCm39) D41G probably damaging Het
Elapor1 T A 3: 108,382,317 (GRCm39) D284V probably damaging Het
Fat1 C T 8: 45,476,417 (GRCm39) A1821V probably damaging Het
Fry G A 5: 150,312,319 (GRCm39) A745T probably damaging Het
Galnt9 T C 5: 110,765,771 (GRCm39) L491P probably damaging Het
Gata3 A G 2: 9,863,326 (GRCm39) L396P probably damaging Het
Gyg1 A G 3: 20,176,823 (GRCm39) probably benign Het
Hhip C A 8: 80,724,235 (GRCm39) V336L probably benign Het
Hipk2 G A 6: 38,707,816 (GRCm39) P660S possibly damaging Het
Hnrnpul1 G A 7: 25,442,414 (GRCm39) T276I possibly damaging Het
Ifnl2 G T 7: 28,208,511 (GRCm39) R147S possibly damaging Het
Ilvbl A G 10: 78,419,152 (GRCm39) D467G probably damaging Het
Kcnh1 A T 1: 192,187,783 (GRCm39) H748L probably benign Het
Lyg1 A C 1: 37,989,892 (GRCm39) probably benign Het
Mak A G 13: 41,183,574 (GRCm39) Y544H possibly damaging Het
Med1 A G 11: 98,046,230 (GRCm39) probably benign Het
Mogat2 T C 7: 98,887,724 (GRCm39) T17A possibly damaging Het
Myom3 T C 4: 135,516,970 (GRCm39) S847P probably damaging Het
Nprl2 T G 9: 107,419,599 (GRCm39) C9G probably null Het
Or5b125-ps1 T A 19: 13,056,307 (GRCm39) noncoding transcript Het
Pcmtd1 T C 1: 7,190,599 (GRCm39) Y23H probably damaging Het
Pkd1 C A 17: 24,790,234 (GRCm39) H972Q probably benign Het
Rbm26 A G 14: 105,358,452 (GRCm39) I929T probably benign Het
Scrn2 A G 11: 96,921,709 (GRCm39) T60A probably damaging Het
Setdb2 A T 14: 59,653,156 (GRCm39) I398N probably damaging Het
Setx A G 2: 29,029,350 (GRCm39) E206G probably damaging Het
Sez6 T C 11: 77,859,915 (GRCm39) probably null Het
Sh3bp4 C T 1: 89,071,962 (GRCm39) S270L probably damaging Het
Styxl2 G A 1: 165,927,914 (GRCm39) T566I probably benign Het
Supv3l1 A T 10: 62,282,844 (GRCm39) V139E possibly damaging Het
Syce1 A T 7: 140,358,978 (GRCm39) H178Q probably damaging Het
Tamalin G A 15: 101,126,923 (GRCm39) V134I probably damaging Het
Tcp10c T A 17: 13,588,453 (GRCm39) M344K possibly damaging Het
Tcstv7a C T 13: 120,290,025 (GRCm39) W57* probably null Het
Tmc1 A G 19: 20,801,394 (GRCm39) V502A possibly damaging Het
Tmco4 G T 4: 138,747,477 (GRCm39) G242V probably damaging Het
Trp53bp2 G A 1: 182,272,271 (GRCm39) R460H probably damaging Het
Virma T A 4: 11,528,746 (GRCm39) C1328S probably benign Het
Zfp366 A G 13: 99,364,875 (GRCm39) D12G probably damaging Het
Zfp457 C T 13: 67,440,899 (GRCm39) A463T probably benign Het
Other mutations in Stac3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Stac3 APN 10 127,339,533 (GRCm39) missense probably damaging 1.00
IGL02271:Stac3 APN 10 127,339,768 (GRCm39) missense probably benign 0.00
R0051:Stac3 UTSW 10 127,344,017 (GRCm39) missense probably damaging 0.98
R0090:Stac3 UTSW 10 127,339,799 (GRCm39) unclassified probably benign
R0131:Stac3 UTSW 10 127,339,519 (GRCm39) missense probably damaging 0.97
R0131:Stac3 UTSW 10 127,339,519 (GRCm39) missense probably damaging 0.97
R0132:Stac3 UTSW 10 127,339,519 (GRCm39) missense probably damaging 0.97
R0330:Stac3 UTSW 10 127,343,616 (GRCm39) splice site probably null
R0630:Stac3 UTSW 10 127,343,632 (GRCm39) missense probably damaging 1.00
R1132:Stac3 UTSW 10 127,343,128 (GRCm39) missense probably benign
R1450:Stac3 UTSW 10 127,340,754 (GRCm39) missense probably damaging 1.00
R1739:Stac3 UTSW 10 127,343,635 (GRCm39) missense probably benign 0.40
R2316:Stac3 UTSW 10 127,339,229 (GRCm39) splice site probably null
R2511:Stac3 UTSW 10 127,339,787 (GRCm39) critical splice donor site probably null
R3000:Stac3 UTSW 10 127,344,016 (GRCm39) missense probably benign 0.01
R4324:Stac3 UTSW 10 127,339,118 (GRCm39) missense probably damaging 0.99
R4758:Stac3 UTSW 10 127,339,214 (GRCm39) missense possibly damaging 0.95
R6244:Stac3 UTSW 10 127,344,044 (GRCm39) missense probably damaging 1.00
R6275:Stac3 UTSW 10 127,343,615 (GRCm39) nonsense probably null
R7335:Stac3 UTSW 10 127,340,769 (GRCm39) missense probably benign 0.22
R8191:Stac3 UTSW 10 127,344,068 (GRCm39) missense probably damaging 1.00
R8290:Stac3 UTSW 10 127,339,229 (GRCm39) splice site probably null
R8410:Stac3 UTSW 10 127,339,199 (GRCm39) missense probably damaging 1.00
R8690:Stac3 UTSW 10 127,339,494 (GRCm39) missense probably damaging 1.00
R8799:Stac3 UTSW 10 127,340,781 (GRCm39) missense probably damaging 0.98
R9008:Stac3 UTSW 10 127,339,454 (GRCm39) missense probably damaging 1.00
R9095:Stac3 UTSW 10 127,343,584 (GRCm39) missense probably damaging 1.00
R9594:Stac3 UTSW 10 127,338,654 (GRCm39) start codon destroyed probably null 0.53
R9759:Stac3 UTSW 10 127,344,083 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- AAATCACAGAGAGGGTCTCCTTTC -3'
(R):5'- GGGAGGGTCGTACATACTGATG -3'

Sequencing Primer
(F):5'- GAGAGGGTCTCCTTTCTATCCCAG -3'
(R):5'- ACATACTGATGGGTTAGGGCCTC -3'
Posted On 2016-06-15