Incidental Mutation 'IGL01637:Stac2'
ID93036
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stac2
Ensembl Gene ENSMUSG00000017400
Gene NameSH3 and cysteine rich domain 2
Synonyms24b2, 24b2/STAC2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.120) question?
Stock #IGL01637
Quality Score
Status
Chromosome11
Chromosomal Location98036623-98053462 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 98041354 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 241 (E241G)
Ref Sequence ENSEMBL: ENSMUSP00000017544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017544]
Predicted Effect probably benign
Transcript: ENSMUST00000017544
AA Change: E241G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000017544
Gene: ENSMUSG00000017400
AA Change: E241G

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 unknown
Transcript: ENSMUST00000131519
AA Change: E66G
SMART Domains Protein: ENSMUSP00000118164
Gene: ENSMUSG00000017400
AA Change: E66G

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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,904,684 I384N probably damaging Het
Adsl G T 15: 80,948,700 Q51H probably null Het
Apcdd1 A G 18: 62,937,286 E208G probably damaging Het
Arrdc4 G A 7: 68,744,832 R155* probably null Het
Atp9b T C 18: 80,756,455 E823G probably benign Het
Bmp1 A G 14: 70,492,461 W468R probably damaging Het
C6 A G 15: 4,759,917 I281M possibly damaging Het
Ccdc88b T C 19: 6,846,710 T1392A probably benign Het
Dhx34 G T 7: 16,205,473 S665Y probably damaging Het
Dock1 A T 7: 135,137,813 probably null Het
Dpp7 T C 2: 25,354,613 N252S probably benign Het
Dyrk2 A G 10: 118,860,507 V282A probably damaging Het
Edrf1 T C 7: 133,650,525 L401P probably damaging Het
Epc1 A G 18: 6,439,724 V150A probably benign Het
Fam170a A T 18: 50,281,667 M127L possibly damaging Het
Fam19a3 C T 3: 104,773,079 V75M probably damaging Het
Gabrg1 T A 5: 70,777,205 T277S probably damaging Het
Galntl5 T C 5: 25,189,825 probably benign Het
Gbp2b A G 3: 142,598,312 N56S probably damaging Het
Gfm2 T A 13: 97,150,409 V172E probably damaging Het
Gm10419 T C 5: 108,372,358 probably benign Het
Gm7293 A G 9: 51,623,606 noncoding transcript Het
Gstm3 T C 3: 107,967,633 E101G probably damaging Het
Ifnlr1 T C 4: 135,686,545 W2R possibly damaging Het
Ighv13-1 A T 12: 114,267,733 probably benign Het
Ighv7-1 T A 12: 113,896,503 I90F possibly damaging Het
Itga2b A G 11: 102,455,583 L1009P probably damaging Het
Kif1a A G 1: 93,039,853 V1112A possibly damaging Het
Kif5a A T 10: 127,245,368 D232E possibly damaging Het
Klb G A 5: 65,375,679 probably null Het
Lrriq1 G A 10: 103,215,628 A421V probably benign Het
Mdga1 G A 17: 29,839,871 R721C probably damaging Het
Mrpl48 G T 7: 100,550,532 probably benign Het
Myo18b T A 5: 112,840,629 R1030S possibly damaging Het
Nf1 T A 11: 79,547,120 H2101Q probably damaging Het
Nlrp3 C A 11: 59,549,378 L594I probably damaging Het
Notch2 C T 3: 98,146,060 T2013I probably damaging Het
Olfr1018 A T 2: 85,822,988 T6S probably benign Het
Olfr131 G A 17: 38,082,103 L292F possibly damaging Het
Olfr593 C A 7: 103,212,177 R95S probably benign Het
Olfr812 A G 10: 129,842,610 L144P probably benign Het
Olfr845 T C 9: 19,338,964 F168S probably damaging Het
Panx3 T C 9: 37,664,056 D170G probably damaging Het
Pclo A G 5: 14,540,034 S783G unknown Het
Pde3b T A 7: 114,526,901 L790* probably null Het
Pik3r2 T C 8: 70,772,348 probably benign Het
Rassf4 A G 6: 116,641,690 F211L probably damaging Het
Rbl2 C T 8: 91,106,438 P666S probably benign Het
Rnf123 A G 9: 108,058,238 F979L probably damaging Het
Rock2 T A 12: 16,965,171 D788E probably benign Het
Serpina3b A G 12: 104,132,957 T244A probably benign Het
Setd1b T C 5: 123,148,513 S541P unknown Het
Slc12a4 T C 8: 105,960,707 D60G possibly damaging Het
Tas2r115 A G 6: 132,737,629 Y120H probably damaging Het
Tmtc2 A T 10: 105,370,085 F450I probably benign Het
Txnl1 A T 18: 63,674,191 I198N probably damaging Het
Ubr2 A T 17: 46,956,654 M1049K probably damaging Het
Ugt2b5 T C 5: 87,139,900 E136G probably benign Het
Unc13b C T 4: 43,241,066 T3623I probably damaging Het
Usp13 T A 3: 32,919,064 S797T probably benign Het
Vmn1r173 A T 7: 23,702,948 T203S probably damaging Het
Vwf T A 6: 125,645,736 I1718N probably damaging Het
Zfr A G 15: 12,159,646 H676R probably benign Het
Other mutations in Stac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Stac2 APN 11 98041179 missense probably benign 0.00
IGL01148:Stac2 APN 11 98043561 nonsense probably null
IGL01320:Stac2 APN 11 98040095 unclassified probably null
IGL01614:Stac2 APN 11 98052948 missense probably benign 0.10
IGL02797:Stac2 APN 11 98043519 missense possibly damaging 0.92
IGL03025:Stac2 APN 11 98043722 missense probably damaging 0.97
IGL03386:Stac2 APN 11 98041140 missense possibly damaging 0.52
R0699:Stac2 UTSW 11 98042785 missense possibly damaging 0.92
R1664:Stac2 UTSW 11 98042594 missense probably damaging 1.00
R1799:Stac2 UTSW 11 98039618 critical splice donor site probably null
R1868:Stac2 UTSW 11 98052945 missense probably benign 0.00
R4731:Stac2 UTSW 11 98039695 missense probably damaging 1.00
R4748:Stac2 UTSW 11 98041372 missense possibly damaging 0.59
R4943:Stac2 UTSW 11 98041572 missense probably benign 0.04
R4955:Stac2 UTSW 11 98043548 missense possibly damaging 0.69
R5171:Stac2 UTSW 11 98043498 missense possibly damaging 0.75
R7345:Stac2 UTSW 11 98042613 missense probably damaging 1.00
R7527:Stac2 UTSW 11 98039626 missense probably damaging 1.00
Z1176:Stac2 UTSW 11 98043567 missense probably benign
Posted On2013-12-09