Incidental Mutation 'IGL01148:Stac2'
ID 52414
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stac2
Ensembl Gene ENSMUSG00000017400
Gene Name SH3 and cysteine rich domain 2
Synonyms 24b2/STAC2, 24b2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # IGL01148
Quality Score
Status
Chromosome 11
Chromosomal Location 97927449-97944288 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 97934387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 106 (K106*)
Ref Sequence ENSEMBL: ENSMUSP00000017544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017544]
AlphaFold Q8R1B0
Predicted Effect probably null
Transcript: ENSMUST00000017544
AA Change: K106*
SMART Domains Protein: ENSMUSP00000017544
Gene: ENSMUSG00000017400
AA Change: K106*

DomainStartEndE-ValueType
low complexity region 63 81 N/A INTRINSIC
low complexity region 89 101 N/A INTRINSIC
C1 111 161 1.73e-5 SMART
low complexity region 219 236 N/A INTRINSIC
low complexity region 261 276 N/A INTRINSIC
SH3 292 347 1.92e-18 SMART
Blast:SH3 352 407 1e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000131519
SMART Domains Protein: ENSMUSP00000118164
Gene: ENSMUSG00000017400

DomainStartEndE-ValueType
Pfam:STAC2_u1 6 115 1.8e-32 PFAM
low complexity region 146 157 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A T 11: 69,781,729 (GRCm39) C64* probably null Het
Ccng2 G A 5: 93,418,746 (GRCm39) D124N probably damaging Het
Cttnbp2 G A 6: 18,382,817 (GRCm39) P1317L probably damaging Het
Dsg1a T A 18: 20,453,982 (GRCm39) V29E probably damaging Het
Exoc6b T C 6: 84,885,208 (GRCm39) K244E probably benign Het
Fastkd5 A G 2: 130,456,605 (GRCm39) F662L probably benign Het
Fbxl18 T C 5: 142,871,580 (GRCm39) M488V probably damaging Het
Gas2l3 C T 10: 89,249,366 (GRCm39) G584D probably benign Het
Gm28042 T C 2: 119,869,519 (GRCm39) F405L possibly damaging Het
Gtf3c2 T C 5: 31,317,168 (GRCm39) K635E probably damaging Het
H2-Q2 A G 17: 35,561,654 (GRCm39) Y48C probably damaging Het
Hddc2 T C 10: 31,192,330 (GRCm39) I78T probably damaging Het
Hspg2 T A 4: 137,273,969 (GRCm39) M2708K probably benign Het
Ift88 T C 14: 57,677,189 (GRCm39) S119P probably benign Het
Mta2 T C 19: 8,925,668 (GRCm39) C388R probably damaging Het
Mymx G T 17: 45,912,594 (GRCm39) probably benign Het
Naga A G 15: 82,214,861 (GRCm39) Y366H possibly damaging Het
Nlrp9a A G 7: 26,257,006 (GRCm39) E208G probably damaging Het
Nr4a2 C T 2: 57,001,983 (GRCm39) V94M probably benign Het
Or4c124 G T 2: 89,156,368 (GRCm39) T52K probably benign Het
Osbpl8 G T 10: 111,112,424 (GRCm39) probably benign Het
Pitpnb T A 5: 111,486,222 (GRCm39) V42D probably damaging Het
Pitrm1 A G 13: 6,623,141 (GRCm39) R801G probably benign Het
Pthlh G A 6: 147,154,073 (GRCm39) T174M probably benign Het
Sco2 T C 15: 89,255,924 (GRCm39) I243M probably benign Het
Sema5a G A 15: 32,681,641 (GRCm39) V907M probably benign Het
Semp2l1 A G 1: 32,584,735 (GRCm39) S392P possibly damaging Het
Spata31e2 T C 1: 26,724,253 (GRCm39) E309G probably benign Het
Tas2r105 T A 6: 131,663,815 (GRCm39) R204S probably damaging Het
Tgm5 A G 2: 120,877,156 (GRCm39) probably null Het
Trpm1 A G 7: 63,893,312 (GRCm39) I939V probably damaging Het
Ttll11 T A 2: 35,674,205 (GRCm39) N574I probably damaging Het
Zfand3 A T 17: 30,354,374 (GRCm39) T64S probably benign Het
Zfyve26 G A 12: 79,307,644 (GRCm39) H312Y probably benign Het
Other mutations in Stac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Stac2 APN 11 97,932,005 (GRCm39) missense probably benign 0.00
IGL01320:Stac2 APN 11 97,930,921 (GRCm39) splice site probably null
IGL01614:Stac2 APN 11 97,943,774 (GRCm39) missense probably benign 0.10
IGL01637:Stac2 APN 11 97,932,180 (GRCm39) missense probably benign 0.00
IGL02797:Stac2 APN 11 97,934,345 (GRCm39) missense possibly damaging 0.92
IGL03025:Stac2 APN 11 97,934,548 (GRCm39) missense probably damaging 0.97
IGL03386:Stac2 APN 11 97,931,966 (GRCm39) missense possibly damaging 0.52
R0699:Stac2 UTSW 11 97,933,611 (GRCm39) missense possibly damaging 0.92
R1664:Stac2 UTSW 11 97,933,420 (GRCm39) missense probably damaging 1.00
R1799:Stac2 UTSW 11 97,930,444 (GRCm39) critical splice donor site probably null
R1868:Stac2 UTSW 11 97,943,771 (GRCm39) missense probably benign 0.00
R4731:Stac2 UTSW 11 97,930,521 (GRCm39) missense probably damaging 1.00
R4748:Stac2 UTSW 11 97,932,198 (GRCm39) missense possibly damaging 0.59
R4943:Stac2 UTSW 11 97,932,398 (GRCm39) missense probably benign 0.04
R4955:Stac2 UTSW 11 97,934,374 (GRCm39) missense possibly damaging 0.69
R5171:Stac2 UTSW 11 97,934,324 (GRCm39) missense possibly damaging 0.75
R7345:Stac2 UTSW 11 97,933,439 (GRCm39) missense probably damaging 1.00
R7527:Stac2 UTSW 11 97,930,452 (GRCm39) missense probably damaging 1.00
R7963:Stac2 UTSW 11 97,932,403 (GRCm39) missense probably benign
R7982:Stac2 UTSW 11 97,933,379 (GRCm39) missense probably benign
R8878:Stac2 UTSW 11 97,932,373 (GRCm39) missense probably benign 0.00
R9790:Stac2 UTSW 11 97,934,449 (GRCm39) missense probably benign 0.02
R9791:Stac2 UTSW 11 97,934,449 (GRCm39) missense probably benign 0.02
Z1176:Stac2 UTSW 11 97,934,393 (GRCm39) missense probably benign
Posted On 2013-06-21