Incidental Mutation 'IGL03136:Smurf2'
ID410528
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smurf2
Ensembl Gene ENSMUSG00000018363
Gene NameSMAD specific E3 ubiquitin protein ligase 2
Synonyms2810411E22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03136
Quality Score
Status
Chromosome11
Chromosomal Location106820066-106920715 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 106831048 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 527 (D527E)
Ref Sequence ENSEMBL: ENSMUSP00000099356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092517] [ENSMUST00000103067] [ENSMUST00000139297] [ENSMUST00000167787]
Predicted Effect probably benign
Transcript: ENSMUST00000092517
AA Change: D540E

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000090177
Gene: ENSMUSG00000018363
AA Change: D540E

DomainStartEndE-ValueType
C2 13 116 1.51e-15 SMART
WW 158 190 1.96e-11 SMART
WW 252 284 2.47e-8 SMART
WW 298 330 4.97e-13 SMART
low complexity region 341 351 N/A INTRINSIC
HECTc 412 748 1.75e-165 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103067
AA Change: D527E

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099356
Gene: ENSMUSG00000018363
AA Change: D527E

DomainStartEndE-ValueType
C2 13 103 1e-6 SMART
WW 145 177 1.96e-11 SMART
WW 239 271 2.47e-8 SMART
WW 285 317 4.97e-13 SMART
low complexity region 328 338 N/A INTRINSIC
HECTc 399 735 1.75e-165 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130688
Predicted Effect probably benign
Transcript: ENSMUST00000139297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144027
Predicted Effect probably benign
Transcript: ENSMUST00000167787
AA Change: D540E

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000129269
Gene: ENSMUSG00000018363
AA Change: D540E

DomainStartEndE-ValueType
C2 13 116 1.51e-15 SMART
WW 158 190 1.96e-11 SMART
WW 252 284 2.47e-8 SMART
WW 298 330 4.97e-13 SMART
low complexity region 341 351 N/A INTRINSIC
HECTc 412 748 1.75e-165 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele occasionally exhibit kinked or looped tails and abnormal vertebrae. Mice homozygous or heterozygous for a gene trap allele exhibit increased tumor incidence and delayed cellular senescence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik A G 11: 25,769,122 L7S unknown Het
Abr C T 11: 76,425,295 W571* probably null Het
Adam18 A T 8: 24,641,836 C420S probably damaging Het
Akap5 G T 12: 76,329,875 E694* probably null Het
Bbs1 T C 19: 4,890,991 K565R probably benign Het
Brix1 A G 15: 10,478,766 F189S probably damaging Het
Cnot4 C A 6: 35,051,241 R480L probably damaging Het
Ctu2 A G 8: 122,479,201 probably benign Het
Dhcr7 A G 7: 143,847,366 H422R probably damaging Het
Dock1 A G 7: 135,168,389 M1793V probably benign Het
Dock7 A G 4: 99,003,791 F853L probably damaging Het
Fkbp15 G A 4: 62,340,229 probably benign Het
Ftsj3 C T 11: 106,253,813 D117N probably damaging Het
Gphn A G 12: 78,481,333 I142V possibly damaging Het
Hsd3b1 G A 3: 98,852,985 A230V probably damaging Het
Hydin G A 8: 110,418,524 A836T probably benign Het
Ift52 G T 2: 163,025,334 E71* probably null Het
Ms4a14 T C 19: 11,304,411 D261G possibly damaging Het
Nid1 G A 13: 13,500,499 V935I probably benign Het
Nrap T C 19: 56,342,255 K1008E possibly damaging Het
Nup210 A C 6: 91,028,861 V1340G probably benign Het
Olfr1442 T A 19: 12,674,967 I254N probably damaging Het
Olfr169 A T 16: 19,566,353 F177I probably damaging Het
Olfr974 T C 9: 39,943,036 Y259H probably damaging Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Pdcd6ip T A 9: 113,691,499 N139I probably damaging Het
Pgbd1 A G 13: 21,433,439 V80A possibly damaging Het
Pigw A G 11: 84,877,777 I242T probably benign Het
Prtg T G 9: 72,856,985 V580G possibly damaging Het
Ptpn13 T A 5: 103,543,463 N1065K possibly damaging Het
Qrich1 G A 9: 108,544,918 R577H probably damaging Het
Ryr3 G A 2: 112,675,974 probably benign Het
Selenoi T C 5: 30,257,727 Y197H probably damaging Het
Slc47a2 A G 11: 61,310,765 C343R probably benign Het
Spam1 C T 6: 24,797,011 probably benign Het
Stkld1 T C 2: 26,951,423 V460A probably benign Het
Tgoln1 G A 6: 72,614,113 R339W probably damaging Het
Tprg T C 16: 25,412,762 probably benign Het
Treml1 T G 17: 48,364,851 probably benign Het
Ttc39b A T 4: 83,237,280 V497E probably damaging Het
Vmn1r223 A G 13: 23,249,763 T176A possibly damaging Het
Vmn2r75 A T 7: 86,148,703 I634N possibly damaging Het
Vps13c A G 9: 67,950,310 E2608G probably damaging Het
Zfp575 A G 7: 24,585,956 C87R probably damaging Het
Zfp790 T A 7: 29,829,895 Y668* probably null Het
Other mutations in Smurf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Smurf2 APN 11 106852636 missense probably benign 0.17
IGL00980:Smurf2 APN 11 106836095 missense probably damaging 1.00
IGL01346:Smurf2 APN 11 106830915 splice site probably benign
IGL02016:Smurf2 APN 11 106822678 missense probably damaging 1.00
IGL02937:Smurf2 APN 11 106846047 missense probably damaging 1.00
R0513:Smurf2 UTSW 11 106836105 missense probably benign 0.22
R1171:Smurf2 UTSW 11 106852618 missense possibly damaging 0.80
R1459:Smurf2 UTSW 11 106852507 missense possibly damaging 0.78
R1687:Smurf2 UTSW 11 106836070 splice site probably null
R1697:Smurf2 UTSW 11 106824688 missense possibly damaging 0.76
R1706:Smurf2 UTSW 11 106824747 missense probably damaging 1.00
R2064:Smurf2 UTSW 11 106871548 missense probably damaging 1.00
R2072:Smurf2 UTSW 11 106841769 missense probably benign 0.00
R2433:Smurf2 UTSW 11 106868664 missense probably benign 0.06
R5250:Smurf2 UTSW 11 106856179 critical splice donor site probably null
R5531:Smurf2 UTSW 11 106852563 missense possibly damaging 0.47
R5835:Smurf2 UTSW 11 106836148 missense probably damaging 1.00
R5966:Smurf2 UTSW 11 106875901 missense possibly damaging 0.78
R6093:Smurf2 UTSW 11 106868623 missense possibly damaging 0.75
R6230:Smurf2 UTSW 11 106868504 splice site probably null
R6373:Smurf2 UTSW 11 106833769 missense probably damaging 1.00
R7011:Smurf2 UTSW 11 106833784 missense probably benign 0.16
R7335:Smurf2 UTSW 11 106846085 missense possibly damaging 0.52
R7472:Smurf2 UTSW 11 106836095 missense probably damaging 1.00
R7851:Smurf2 UTSW 11 106830926 missense probably damaging 1.00
R8246:Smurf2 UTSW 11 106831044 missense probably benign 0.02
R8319:Smurf2 UTSW 11 106824752 missense probably damaging 1.00
RF002:Smurf2 UTSW 11 106852587 missense probably benign 0.22
Z1176:Smurf2 UTSW 11 106871529 missense probably damaging 1.00
Posted On2016-08-02