Incidental Mutation 'R3794:Smurf1'
ID 272684
Institutional Source Beutler Lab
Gene Symbol Smurf1
Ensembl Gene ENSMUSG00000038780
Gene Name SMAD specific E3 ubiquitin protein ligase 1
Synonyms 4930431E10Rik
MMRRC Submission 040756-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3794 (G1)
Quality Score 196
Status Validated
Chromosome 5
Chromosomal Location 144813305-144902657 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 144837985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085684] [ENSMUST00000100461] [ENSMUST00000110677]
AlphaFold Q9CUN6
Predicted Effect probably null
Transcript: ENSMUST00000085684
SMART Domains Protein: ENSMUSP00000082827
Gene: ENSMUSG00000038780

DomainStartEndE-ValueType
C2 14 117 3.03e-15 SMART
low complexity region 185 193 N/A INTRINSIC
WW 235 267 1.06e-7 SMART
WW 281 313 8.66e-13 SMART
HECTc 392 731 3.48e-160 SMART
Predicted Effect probably null
Transcript: ENSMUST00000100461
SMART Domains Protein: ENSMUSP00000098029
Gene: ENSMUSG00000038780

DomainStartEndE-ValueType
C2 14 117 3.03e-15 SMART
low complexity region 185 193 N/A INTRINSIC
WW 235 267 1.06e-7 SMART
WW 281 313 8.66e-13 SMART
HECTc 392 728 2.72e-162 SMART
Predicted Effect probably null
Transcript: ENSMUST00000110677
SMART Domains Protein: ENSMUSP00000106305
Gene: ENSMUSG00000038780

DomainStartEndE-ValueType
C2 14 117 3.03e-15 SMART
low complexity region 185 193 N/A INTRINSIC
WW 235 267 1.06e-7 SMART
WW 307 339 8.66e-13 SMART
HECTc 418 757 3.48e-160 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183852
Predicted Effect probably benign
Transcript: ENSMUST00000198621
Meta Mutation Damage Score 0.9499 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (37/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for one knock-out allele display increased osteoblast function, bone density, and thickness of the cortical bone in long bones. Mice homozygous for a different knock-out allele are viable and only display gastrulation defects in combination with a Smurf2 knock-out allele. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 C T 15: 98,496,824 (GRCm39) V482I probably damaging Het
Adgrv1 T A 13: 81,431,486 (GRCm39) M1L probably damaging Het
Ceacam13 A G 7: 17,747,340 (GRCm39) *264W probably null Het
Dennd5b A T 6: 149,002,715 (GRCm39) D31E possibly damaging Het
Dip2c T C 13: 9,654,597 (GRCm39) V706A probably damaging Het
Enpp3 T C 10: 24,707,630 (GRCm39) probably null Het
Exoc4 T G 6: 33,452,932 (GRCm39) V474G probably benign Het
F2rl1 A G 13: 95,649,719 (GRCm39) Y388H unknown Het
Fasl T C 1: 161,609,306 (GRCm39) R17G probably benign Het
Htr1a G A 13: 105,580,852 (GRCm39) V31M possibly damaging Het
Inpp4b T C 8: 82,759,845 (GRCm39) V445A probably damaging Het
Itih3 T C 14: 30,640,351 (GRCm39) Y319C probably damaging Het
Katnip A G 7: 125,419,261 (GRCm39) N476S probably benign Het
Kmt2d T C 15: 98,735,240 (GRCm39) probably benign Het
Mobp A T 9: 119,997,033 (GRCm39) K55* probably null Het
Ndufaf5 T A 2: 140,044,843 (GRCm39) M279K possibly damaging Het
Nlrc3 T C 16: 3,765,739 (GRCm39) I1057V probably benign Het
Or10al7 A G 17: 38,365,786 (GRCm39) Y224H probably damaging Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Piezo2 C T 18: 63,214,864 (GRCm39) R1257Q probably damaging Het
Pigv A G 4: 133,392,502 (GRCm39) S223P possibly damaging Het
Pkdcc A G 17: 83,531,382 (GRCm39) T464A probably damaging Het
Polr2k A G 15: 36,175,193 (GRCm39) I18V probably damaging Het
Pon3 A G 6: 5,221,578 (GRCm39) Y351H probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Scaf8 A G 17: 3,240,524 (GRCm39) E632G probably damaging Het
Tex16 T G X: 111,150,375 (GRCm39) M1R probably null Het
Tln1 G T 4: 43,536,295 (GRCm39) A1999D probably damaging Het
Trgv5 A T 13: 19,376,694 (GRCm39) H47L probably benign Het
Ttn C T 2: 76,772,781 (GRCm39) V2405I possibly damaging Het
Vps13d G A 4: 144,812,007 (GRCm39) probably benign Het
Xrcc1 A G 7: 24,269,985 (GRCm39) T469A probably benign Het
Zfp287 G T 11: 62,605,070 (GRCm39) H612Q probably damaging Het
Zfp352 C T 4: 90,113,386 (GRCm39) H509Y probably damaging Het
Other mutations in Smurf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00776:Smurf1 APN 5 144,818,584 (GRCm39) missense probably benign 0.00
IGL01577:Smurf1 APN 5 144,829,998 (GRCm39) missense probably damaging 0.99
IGL02232:Smurf1 APN 5 144,823,248 (GRCm39) missense probably damaging 1.00
IGL02407:Smurf1 APN 5 144,821,534 (GRCm39) missense probably damaging 1.00
IGL02959:Smurf1 APN 5 144,836,199 (GRCm39) missense probably damaging 1.00
IGL02997:Smurf1 APN 5 144,834,815 (GRCm39) nonsense probably null
IGL03227:Smurf1 APN 5 144,835,992 (GRCm39) missense probably damaging 1.00
IGL03293:Smurf1 APN 5 144,818,609 (GRCm39) missense probably benign
R1563:Smurf1 UTSW 5 144,819,323 (GRCm39) missense probably damaging 1.00
R1652:Smurf1 UTSW 5 144,817,474 (GRCm39) missense probably damaging 1.00
R2698:Smurf1 UTSW 5 144,820,372 (GRCm39) unclassified probably benign
R4274:Smurf1 UTSW 5 144,833,585 (GRCm39) intron probably benign
R4282:Smurf1 UTSW 5 144,819,403 (GRCm39) missense probably damaging 1.00
R4287:Smurf1 UTSW 5 144,828,268 (GRCm39) missense probably benign 0.00
R4643:Smurf1 UTSW 5 144,816,179 (GRCm39) missense probably damaging 1.00
R4723:Smurf1 UTSW 5 144,829,994 (GRCm39) missense probably damaging 1.00
R5496:Smurf1 UTSW 5 144,819,403 (GRCm39) nonsense probably null
R5702:Smurf1 UTSW 5 144,838,021 (GRCm39) missense possibly damaging 0.96
R5846:Smurf1 UTSW 5 144,816,190 (GRCm39) missense probably damaging 1.00
R6107:Smurf1 UTSW 5 144,831,314 (GRCm39) missense possibly damaging 0.75
R6263:Smurf1 UTSW 5 144,818,541 (GRCm39) missense probably damaging 0.96
R6477:Smurf1 UTSW 5 144,826,602 (GRCm39) missense possibly damaging 0.49
R6548:Smurf1 UTSW 5 144,836,307 (GRCm39) missense probably damaging 1.00
R6584:Smurf1 UTSW 5 144,819,333 (GRCm39) missense probably damaging 0.97
R6981:Smurf1 UTSW 5 144,823,179 (GRCm39) missense possibly damaging 0.69
R7062:Smurf1 UTSW 5 144,830,356 (GRCm39) splice site probably null
R7900:Smurf1 UTSW 5 144,836,183 (GRCm39) missense probably damaging 1.00
R8271:Smurf1 UTSW 5 144,830,897 (GRCm39) missense possibly damaging 0.53
R8361:Smurf1 UTSW 5 144,820,506 (GRCm39) missense probably damaging 1.00
R8919:Smurf1 UTSW 5 144,820,422 (GRCm39) nonsense probably null
R9312:Smurf1 UTSW 5 144,830,893 (GRCm39) missense probably damaging 1.00
R9324:Smurf1 UTSW 5 144,817,463 (GRCm39) missense probably benign 0.02
R9493:Smurf1 UTSW 5 144,833,395 (GRCm39) missense
R9625:Smurf1 UTSW 5 144,830,920 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- CTGTGGTAAGGGCCAAATCATG -3'
(R):5'- CACTCTCTTCTGTAGGATGCCG -3'

Sequencing Primer
(F):5'- TGGTAAGGGCCAAATCATGAAAACC -3'
(R):5'- GCTGTGCCACCAGGTAGACTC -3'
Posted On 2015-03-25