Incidental Mutation 'IGL03004:Stac'
ID407466
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stac
Ensembl Gene ENSMUSG00000032502
Gene Namesrc homology three (SH3) and cysteine rich domain
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL03004
Quality Score
Status
Chromosome9
Chromosomal Location111561437-111690348 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 111602540 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 248 (S248A)
Ref Sequence ENSEMBL: ENSMUSP00000035083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035083] [ENSMUST00000161995]
Predicted Effect probably benign
Transcript: ENSMUST00000035083
AA Change: S248A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035083
Gene: ENSMUSG00000032502
AA Change: S248A

DomainStartEndE-ValueType
low complexity region 78 93 N/A INTRINSIC
C1 109 160 5.91e-13 SMART
low complexity region 213 232 N/A INTRINSIC
SH3 289 344 3.45e-20 SMART
Pfam:SH3_2 349 401 6.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161995
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 36,965,677 probably benign Het
Atrx A T X: 105,832,509 C78* probably null Het
Birc6 T A 17: 74,612,185 N1999K probably benign Het
Cdc42bpg G A 19: 6,311,383 R313Q probably benign Het
Clip3 A G 7: 30,292,364 Y55C probably damaging Het
Ddit4l A G 3: 137,626,205 N111D probably benign Het
Eprs T G 1: 185,381,833 M326R probably damaging Het
F8 C T X: 75,212,052 G2045D probably damaging Het
Fstl5 A G 3: 76,648,431 probably benign Het
Gm10577 T C 4: 101,020,329 probably benign Het
Heatr6 T C 11: 83,757,379 S133P probably benign Het
Itpr3 T G 17: 27,097,978 F736V possibly damaging Het
Klf8 T C X: 153,382,720 L95P probably damaging Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Map3k12 A G 15: 102,504,196 V247A possibly damaging Het
Obscn A G 11: 59,028,587 Y6211H probably damaging Het
Olfr348 A G 2: 36,787,182 Y219C probably damaging Het
Pip4k2b A G 11: 97,724,474 Y187H probably damaging Het
Rabggta A G 14: 55,719,230 probably benign Het
Ranbp3 T A 17: 56,707,207 V246E probably damaging Het
Rtf1 C A 2: 119,701,273 probably benign Het
Sema3b G A 9: 107,602,915 P208L possibly damaging Het
Smpd1 A G 7: 105,556,674 D416G possibly damaging Het
Spam1 T C 6: 24,796,914 V288A probably damaging Het
Tmem178b C A 6: 40,245,581 R77S probably damaging Het
Vegfd T C X: 164,402,108 L352P probably benign Het
Vmn1r176 A T 7: 23,835,277 N150K probably damaging Het
Vmn1r230 T C 17: 20,847,510 probably benign Het
Vsig10 A G 5: 117,325,075 Y122C probably damaging Het
Xpo5 T A 17: 46,207,840 V121E probably damaging Het
Zrsr2 T C X: 163,939,401 Q285R probably benign Het
Other mutations in Stac
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Stac APN 9 111635039 missense probably damaging 1.00
IGL01870:Stac APN 9 111572332 missense probably benign 0.22
IGL02999:Stac APN 9 111604130 missense probably damaging 1.00
R0240:Stac UTSW 9 111635021 missense probably damaging 0.99
R0240:Stac UTSW 9 111635021 missense probably damaging 0.99
R1777:Stac UTSW 9 111604082 missense possibly damaging 0.94
R2210:Stac UTSW 9 111602570 missense probably damaging 0.99
R2237:Stac UTSW 9 111690122 start gained probably benign
R2238:Stac UTSW 9 111690122 start gained probably benign
R2239:Stac UTSW 9 111690122 start gained probably benign
R4125:Stac UTSW 9 111604058 critical splice donor site probably null
R4126:Stac UTSW 9 111604058 critical splice donor site probably null
R4128:Stac UTSW 9 111604058 critical splice donor site probably null
R7069:Stac UTSW 9 111572326 missense possibly damaging 0.89
X0057:Stac UTSW 9 111572333 missense possibly damaging 0.92
Posted On2016-08-02