Incidental Mutation 'R6275:Stac3'
ID 507587
Institutional Source Beutler Lab
Gene Symbol Stac3
Ensembl Gene ENSMUSG00000040287
Gene Name SH3 and cysteine rich domain 3
Synonyms
MMRRC Submission 044445-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6275 (G1)
Quality Score 216.009
Status Validated
Chromosome 10
Chromosomal Location 127337555-127344692 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 127343615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 252 (Y252*)
Ref Sequence ENSEMBL: ENSMUSP00000125124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035839] [ENSMUST00000160019] [ENSMUST00000160610]
AlphaFold Q8BZ71
Predicted Effect probably null
Transcript: ENSMUST00000035839
AA Change: Y252*
SMART Domains Protein: ENSMUSP00000048148
Gene: ENSMUSG00000040287
AA Change: Y252*

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 null
Transcript: ENSMUST00000160019
AA Change: Y252*
SMART Domains Protein: ENSMUSP00000125124
Gene: ENSMUSG00000040287
AA Change: Y252*

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 benign
Transcript: ENSMUST00000160610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162302
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.4%
Validation Efficiency 98% (56/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,833,625 (GRCm39) L30H probably damaging Het
Abcb6 T C 1: 75,149,195 (GRCm39) probably null Het
Acsbg1 T A 9: 54,517,056 (GRCm39) M586L probably benign Het
Ano6 A T 15: 95,811,314 (GRCm39) Y159F probably damaging Het
C1ql1 A G 11: 102,830,575 (GRCm39) I254T probably damaging Het
Ccdc81 T C 7: 89,531,519 (GRCm39) D318G possibly damaging Het
Ccr7 C T 11: 99,036,489 (GRCm39) M144I probably damaging Het
Cdca3 C T 6: 124,809,627 (GRCm39) probably null Het
Ces1h A T 8: 94,099,274 (GRCm39) L93I probably benign Het
Cntfr T C 4: 41,663,216 (GRCm39) D197G possibly damaging Het
Cyp2d12 C A 15: 82,440,859 (GRCm39) P126T probably benign Het
Dnah10 A G 5: 124,862,248 (GRCm39) T2225A probably damaging Het
Edrf1 A T 7: 133,269,311 (GRCm39) N1147Y possibly damaging Het
Eif1ad15 T C 12: 88,287,995 (GRCm39) D86G possibly damaging Het
Eif1ad16 T C 12: 87,985,255 (GRCm39) N96S probably benign Het
Ermap C T 4: 119,035,747 (GRCm39) V414M probably damaging Het
Fam13a A G 6: 58,931,242 (GRCm39) I446T probably damaging Het
Fgfbp3 T C 19: 36,896,153 (GRCm39) H155R possibly damaging Het
Folr1 T A 7: 101,508,742 (GRCm39) N61I probably damaging Het
Fsip1 T C 2: 118,035,583 (GRCm39) I431V probably benign Het
Gm5493 A T 17: 22,969,043 (GRCm39) E74D probably benign Het
H2-Oa A G 17: 34,313,540 (GRCm39) D197G probably benign Het
Hps1 T C 19: 42,758,046 (GRCm39) E169G probably null Het
Il17rc A T 6: 113,457,308 (GRCm39) M372L probably benign Het
Itga10 A G 3: 96,565,501 (GRCm39) S1042G probably benign Het
Jchain A T 5: 88,669,212 (GRCm39) V147E probably damaging Het
Laptm4b A G 15: 34,283,473 (GRCm39) T211A probably benign Het
Mal2 T C 15: 54,435,035 (GRCm39) probably null Het
Mov10l1 T A 15: 88,910,823 (GRCm39) I1071N probably damaging Het
Mpp2 T A 11: 101,951,795 (GRCm39) Y401F probably damaging Het
Myh15 A G 16: 48,965,610 (GRCm39) T1172A probably benign Het
Or51q1 T A 7: 103,629,181 (GRCm39) S261T probably damaging Het
Pcnx1 G T 12: 81,965,381 (GRCm39) S516I probably benign Het
Pidd1 C T 7: 141,019,708 (GRCm39) A685T probably damaging Het
Psg28 A C 7: 18,164,365 (GRCm39) Y116D probably damaging Het
Psmd11 T C 11: 80,329,458 (GRCm39) probably benign Het
Rapgefl1 T A 11: 98,741,946 (GRCm39) Y637N probably damaging Het
Rbm25 T A 12: 83,691,206 (GRCm39) M66K probably damaging Het
Rnf38 T A 4: 44,152,408 (GRCm39) H52L probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGTGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Sec62 A G 3: 30,863,985 (GRCm39) Q89R probably damaging Het
Serpina6 T A 12: 103,614,979 (GRCm39) Q289L probably benign Het
Sf3b2 A C 19: 5,333,678 (GRCm39) I640S probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc26a11 T C 11: 119,250,125 (GRCm39) F127L probably benign Het
Spata31h1 T C 10: 82,121,202 (GRCm39) D3936G probably damaging Het
Stoml3 G A 3: 53,414,927 (GRCm39) A240T probably damaging Het
Tanc1 A T 2: 59,673,854 (GRCm39) H1653L probably benign Het
Tll1 A T 8: 64,504,401 (GRCm39) L665* probably null Het
Tnr A C 1: 159,688,840 (GRCm39) Q434P probably damaging Het
Tpgs1 C A 10: 79,511,354 (GRCm39) D165E probably benign Het
Tsc2 A G 17: 24,819,394 (GRCm39) V1185A probably benign Het
Tulp4 A G 17: 6,249,011 (GRCm39) H203R probably damaging Het
Txnl4a T A 18: 80,261,980 (GRCm39) M72K possibly damaging Het
Usp42 G A 5: 143,700,727 (GRCm39) R1099W probably damaging Het
Zfp292 G A 4: 34,808,883 (GRCm39) A1387V possibly damaging Het
Zfp994 A T 17: 22,418,972 (GRCm39) L659* probably null 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
R5040:Stac3 UTSW 10 127,343,993 (GRCm39) missense probably damaging 0.98
R6244:Stac3 UTSW 10 127,344,044 (GRCm39) missense probably damaging 1.00
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'- AAGTCCTTCCTCCCTGTAGAAC -3'
(R):5'- GATTTACAGTCACATGCCCGTG -3'

Sequencing Primer
(F):5'- TGTAGAACCCTGGTCCTCG -3'
(R):5'- TCACATGCCCGTGCCTGG -3'
Posted On 2018-03-15