Incidental Mutation 'IGL02578:She'
ID299251
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol She
Ensembl Gene ENSMUSG00000046280
Gene Namesrc homology 2 domain-containing transforming protein E
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.213) question?
Stock #IGL02578
Quality Score
Status
Chromosome3
Chromosomal Location89831370-89858834 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 89832066 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 188 (E188G)
Ref Sequence ENSEMBL: ENSMUSP00000059658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050401]
Predicted Effect probably damaging
Transcript: ENSMUST00000050401
AA Change: E188G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059658
Gene: ENSMUSG00000046280
AA Change: E188G

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
low complexity region 167 184 N/A INTRINSIC
SH2 391 475 6.63e-24 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G A 7: 120,423,956 probably null Het
Ago1 T A 4: 126,439,531 D545V probably benign Het
Arid2 T C 15: 96,372,235 S1410P probably benign Het
Cbfa2t3 T A 8: 122,633,448 D488V possibly damaging Het
Cdx2 T C 5: 147,303,284 D194G probably damaging Het
Cyp4a32 A G 4: 115,609,742 Q208R possibly damaging Het
Degs1 A C 1: 182,279,027 Y222* probably null Het
Dnah7a T A 1: 53,432,915 E3564D probably benign Het
Dsg4 A T 18: 20,471,193 I906F possibly damaging Het
Elovl3 A G 19: 46,134,693 H236R possibly damaging Het
Fam159a C T 4: 108,368,028 M112I probably benign Het
Foxp2 A G 6: 15,376,815 probably benign Het
Gm9892 A T 8: 52,196,293 noncoding transcript Het
Herc2 A G 7: 56,106,535 probably null Het
Hhat A G 1: 192,693,913 V304A probably damaging Het
Il16 C T 7: 83,677,986 probably null Het
Kansl1l G A 1: 66,801,689 Q151* probably null Het
Kmt2c G T 5: 25,366,200 probably benign Het
Krt39 T C 11: 99,521,206 N18S probably benign Het
Lcor G T 19: 41,559,150 G391V probably damaging Het
Mical2 A T 7: 112,351,373 T845S probably benign Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Mphosph8 C T 14: 56,674,210 A230V probably benign Het
Myh2 T A 11: 67,186,691 M884K probably benign Het
Nlrp3 T C 11: 59,548,401 L268P probably damaging Het
Ntng1 T A 3: 110,135,394 T39S probably benign Het
Olfr1043 A T 2: 86,162,729 Y73* probably null Het
Olfr1124 T A 2: 87,435,057 I190K probably damaging Het
Olfr342 A C 2: 36,528,144 H244P probably damaging Het
Pde4b T A 4: 102,255,297 M26K possibly damaging Het
Polh G A 17: 46,194,292 Q133* probably null Het
Postn A T 3: 54,377,204 N647I possibly damaging Het
Scimp T A 11: 70,791,561 I110F possibly damaging Het
Sell A G 1: 164,065,596 D127G probably damaging Het
Serpinb12 G A 1: 106,955,490 probably null Het
Slc22a1 T C 17: 12,667,239 Y169C probably damaging Het
Slco2a1 C T 9: 103,046,758 T57I probably damaging Het
Sox2 A T 3: 34,650,596 M61L probably benign Het
Sra1 G A 18: 36,670,097 Q32* probably null Het
Syne2 T A 12: 76,022,279 S4340T possibly damaging Het
Ucn A C 5: 31,138,394 W43G possibly damaging Het
Xdh C T 17: 73,906,246 M836I probably damaging Het
Xirp2 T A 2: 67,511,247 D1277E probably damaging Het
Other mutations in She
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0926:She UTSW 3 89851594 splice site probably benign
R1563:She UTSW 3 89854614 missense probably benign 0.00
R1564:She UTSW 3 89849614 missense possibly damaging 0.81
R1776:She UTSW 3 89832038 missense possibly damaging 0.90
R1952:She UTSW 3 89849485 missense possibly damaging 0.63
R2881:She UTSW 3 89831924 missense probably benign 0.02
R4117:She UTSW 3 89852372 missense probably damaging 1.00
R4838:She UTSW 3 89851639 missense probably benign 0.05
R4960:She UTSW 3 89834237 missense possibly damaging 0.90
R5281:She UTSW 3 89849581 missense probably benign
R5491:She UTSW 3 89831790 missense probably damaging 0.99
R7422:She UTSW 3 89854557 missense possibly damaging 0.67
R7576:She UTSW 3 89831612 missense probably damaging 0.97
Posted On2015-04-16