Incidental Mutation 'IGL01346:Smurf2'
ID 75074
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smurf2
Ensembl Gene ENSMUSG00000018363
Gene Name SMAD specific E3 ubiquitin protein ligase 2
Synonyms 2810411E22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01346
Quality Score
Status
Chromosome 11
Chromosomal Location 106710892-106811541 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 106721741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092517] [ENSMUST00000103067] [ENSMUST00000139297] [ENSMUST00000167787]
AlphaFold A2A5Z6
Predicted Effect probably benign
Transcript: ENSMUST00000092517
SMART Domains Protein: ENSMUSP00000090177
Gene: ENSMUSG00000018363

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
SMART Domains Protein: ENSMUSP00000099356
Gene: ENSMUSG00000018363

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
SMART Domains Protein: ENSMUSP00000129269
Gene: ENSMUSG00000018363

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A G 2: 150,152,980 (GRCm39) V135A unknown Het
Cnot4 A T 6: 35,047,183 (GRCm39) I143N probably damaging Het
Cnot6l A T 5: 96,234,105 (GRCm39) M302K probably damaging Het
Dmxl2 T C 9: 54,322,759 (GRCm39) T1542A probably damaging Het
Dnaaf9 A G 2: 130,633,766 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,363,116 (GRCm39) S3893P probably benign Het
Duox2 A T 2: 122,117,683 (GRCm39) probably benign Het
Dusp1 T C 17: 26,725,295 (GRCm39) N355D probably benign Het
Fam76b T C 9: 13,741,046 (GRCm39) C60R probably damaging Het
Gnptab G A 10: 88,272,041 (GRCm39) V944I possibly damaging Het
Gys1 A G 7: 45,091,961 (GRCm39) Y249C probably damaging Het
Ift88 A T 14: 57,681,862 (GRCm39) E215D probably damaging Het
Kcnu1 T C 8: 26,424,551 (GRCm39) probably benign Het
Lmln C A 16: 32,937,490 (GRCm39) N618K probably benign Het
Lrrc75a T C 11: 62,496,813 (GRCm39) T250A probably damaging Het
Mpp4 A G 1: 59,164,719 (GRCm39) S435P probably damaging Het
Myo1c T A 11: 75,563,076 (GRCm39) V1036E probably damaging Het
Nlrp12 T G 7: 3,289,316 (GRCm39) T399P probably damaging Het
Or2y16 A G 11: 49,335,595 (GRCm39) R306G probably benign Het
Or4c118 A G 2: 88,974,575 (GRCm39) F264S possibly damaging Het
Parp8 A T 13: 117,031,600 (GRCm39) C332S possibly damaging Het
Pdcd11 G A 19: 47,098,053 (GRCm39) V780I probably benign Het
Plekha5 A G 6: 140,480,292 (GRCm39) probably benign Het
Ppt1 T A 4: 122,737,848 (GRCm39) I62K probably damaging Het
Proser3 T C 7: 30,249,071 (GRCm39) N7S probably benign Het
Ptk2b A G 14: 66,414,567 (GRCm39) L311P possibly damaging Het
Rasal2 T C 1: 156,988,786 (GRCm39) N706S probably benign Het
Ripk2 A G 4: 16,132,775 (GRCm39) probably null Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Snx32 A G 19: 5,547,764 (GRCm39) L182P possibly damaging Het
Stpg2 A G 3: 139,125,635 (GRCm39) probably benign Het
Taar2 A G 10: 23,816,997 (GRCm39) Y179C probably damaging Het
Tenm2 G A 11: 35,918,232 (GRCm39) R1843* probably null Het
Tmco4 T C 4: 138,748,260 (GRCm39) I280T probably damaging Het
Tuba4a C A 1: 75,193,921 (GRCm39) C46F probably damaging Het
Ubr1 A G 2: 120,703,603 (GRCm39) probably null Het
Vldlr A T 19: 27,217,081 (GRCm39) I45L possibly damaging Het
Vmn2r120 C A 17: 57,852,232 (GRCm39) G28V probably benign Het
Vmn2r37 C A 7: 9,209,680 (GRCm39) V611L probably benign Het
Vmn2r67 A G 7: 84,786,127 (GRCm39) L626P probably damaging Het
Wdr19 C T 5: 65,379,082 (GRCm39) probably benign Het
Zfp595 T A 13: 67,464,749 (GRCm39) K505* probably null Het
Other mutations in Smurf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Smurf2 APN 11 106,743,462 (GRCm39) missense probably benign 0.17
IGL00980:Smurf2 APN 11 106,726,921 (GRCm39) missense probably damaging 1.00
IGL02016:Smurf2 APN 11 106,713,504 (GRCm39) missense probably damaging 1.00
IGL02937:Smurf2 APN 11 106,736,873 (GRCm39) missense probably damaging 1.00
IGL03136:Smurf2 APN 11 106,721,874 (GRCm39) missense probably benign 0.38
R0513:Smurf2 UTSW 11 106,726,931 (GRCm39) missense probably benign 0.22
R1171:Smurf2 UTSW 11 106,743,444 (GRCm39) missense possibly damaging 0.80
R1459:Smurf2 UTSW 11 106,743,333 (GRCm39) missense possibly damaging 0.78
R1687:Smurf2 UTSW 11 106,726,896 (GRCm39) splice site probably null
R1697:Smurf2 UTSW 11 106,715,514 (GRCm39) missense possibly damaging 0.76
R1706:Smurf2 UTSW 11 106,715,573 (GRCm39) missense probably damaging 1.00
R2064:Smurf2 UTSW 11 106,762,374 (GRCm39) missense probably damaging 1.00
R2072:Smurf2 UTSW 11 106,732,595 (GRCm39) missense probably benign 0.00
R2433:Smurf2 UTSW 11 106,759,490 (GRCm39) missense probably benign 0.06
R5250:Smurf2 UTSW 11 106,747,005 (GRCm39) critical splice donor site probably null
R5531:Smurf2 UTSW 11 106,743,389 (GRCm39) missense possibly damaging 0.47
R5835:Smurf2 UTSW 11 106,726,974 (GRCm39) missense probably damaging 1.00
R5966:Smurf2 UTSW 11 106,766,727 (GRCm39) missense possibly damaging 0.78
R6093:Smurf2 UTSW 11 106,759,449 (GRCm39) missense possibly damaging 0.75
R6230:Smurf2 UTSW 11 106,759,330 (GRCm39) splice site probably null
R6373:Smurf2 UTSW 11 106,724,595 (GRCm39) missense probably damaging 1.00
R7011:Smurf2 UTSW 11 106,724,610 (GRCm39) missense probably benign 0.16
R7335:Smurf2 UTSW 11 106,736,911 (GRCm39) missense possibly damaging 0.52
R7472:Smurf2 UTSW 11 106,726,921 (GRCm39) missense probably damaging 1.00
R7851:Smurf2 UTSW 11 106,721,752 (GRCm39) missense probably damaging 1.00
R8246:Smurf2 UTSW 11 106,721,870 (GRCm39) missense probably benign 0.02
R8319:Smurf2 UTSW 11 106,715,578 (GRCm39) missense probably damaging 1.00
R8739:Smurf2 UTSW 11 106,743,322 (GRCm39) nonsense probably null
R9211:Smurf2 UTSW 11 106,759,463 (GRCm39) missense probably damaging 1.00
R9329:Smurf2 UTSW 11 106,743,424 (GRCm39) missense probably benign 0.00
R9447:Smurf2 UTSW 11 106,715,548 (GRCm39) missense probably damaging 1.00
RF002:Smurf2 UTSW 11 106,743,413 (GRCm39) missense probably benign 0.22
Z1176:Smurf2 UTSW 11 106,762,355 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07