Incidental Mutation 'R4287:Smurf1'
ID 322060
Institutional Source Beutler Lab
Gene Symbol Smurf1
Ensembl Gene ENSMUSG00000038780
Gene Name SMAD specific E3 ubiquitin protein ligase 1
Synonyms 4930431E10Rik
MMRRC Submission 041652-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4287 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 144813305-144902657 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144828268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 363 (S363P)
Ref Sequence ENSEMBL: ENSMUSP00000106305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085684] [ENSMUST00000100461] [ENSMUST00000110677]
AlphaFold Q9CUN6
Predicted Effect probably benign
Transcript: ENSMUST00000085684
AA Change: S337P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082827
Gene: ENSMUSG00000038780
AA Change: S337P

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 benign
Transcript: ENSMUST00000100461
AA Change: S337P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098029
Gene: ENSMUSG00000038780
AA Change: S337P

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 benign
Transcript: ENSMUST00000110677
AA Change: S363P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106305
Gene: ENSMUSG00000038780
AA Change: S363P

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: ENSMUST00000126822
Predicted Effect unknown
Transcript: ENSMUST00000198621
AA Change: S132P
Meta Mutation Damage Score 0.0710 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (40/41)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc5 A G 5: 122,938,664 (GRCm39) V362A probably benign Het
Ash1l T A 3: 88,973,722 (GRCm39) C2594S probably damaging Het
Ccdc82 C A 9: 13,253,043 (GRCm39) Q303K probably benign Het
Cog1 A G 11: 113,544,853 (GRCm39) Y345C probably damaging Het
Fpgt T C 3: 154,796,997 (GRCm39) probably benign Het
Glrb A T 3: 80,752,539 (GRCm39) V408D possibly damaging Het
Gm7135 A G 1: 97,328,123 (GRCm39) noncoding transcript Het
Il1rn T C 2: 24,239,557 (GRCm39) L151P probably damaging Het
Itgav G T 2: 83,555,184 (GRCm39) E36* probably null Het
Kidins220 G A 12: 25,106,845 (GRCm39) E1433K possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Klra3 A G 6: 130,311,265 (GRCm39) C39R probably benign Het
Lce1i A G 3: 92,684,742 (GRCm39) S145P unknown Het
Memo1 T C 17: 74,562,293 (GRCm39) probably null Het
Mpp3 G A 11: 101,914,289 (GRCm39) A102V probably damaging Het
Mug2 T A 6: 122,040,632 (GRCm39) D727E probably benign Het
Ndufb8 T C 19: 44,541,130 (GRCm39) I107V probably benign Het
Or5h18 A T 16: 58,847,976 (GRCm39) M98K probably benign Het
Pnn C T 12: 59,118,956 (GRCm39) T513I possibly damaging Het
Ric8a A G 7: 140,441,335 (GRCm39) Y210C probably damaging Het
Ripor2 G A 13: 24,908,992 (GRCm39) V1037M probably damaging Het
Rreb1 A T 13: 38,115,907 (GRCm39) T1089S probably benign Het
Rrs1 C T 1: 9,616,440 (GRCm39) S231L probably damaging Het
Rrs1 C T 1: 9,616,448 (GRCm39) R234C possibly damaging Het
Sec23ip A G 7: 128,379,057 (GRCm39) D838G probably benign Het
Setbp1 T C 18: 78,902,276 (GRCm39) I464V probably benign Het
Slc25a51 C T 4: 45,399,768 (GRCm39) V141M probably benign Het
Slc41a3 A T 6: 90,617,904 (GRCm39) H310L probably benign Het
Tln1 C T 4: 43,543,509 (GRCm39) R1269Q probably benign Het
Tmed3 A G 9: 89,586,951 (GRCm39) S10P probably benign Het
Tomm70a T G 16: 56,960,985 (GRCm39) Y313D probably damaging Het
Umodl1 A G 17: 31,207,039 (GRCm39) E810G probably benign Het
Unc5c T C 3: 141,420,435 (GRCm39) I52T probably damaging Het
Unc5d T A 8: 29,209,824 (GRCm39) Y432F probably benign Het
Vmn2r97 A T 17: 19,168,337 (GRCm39) probably benign Het
Zfp629 T C 7: 127,211,110 (GRCm39) Y233C probably damaging Het
Zfp986 T C 4: 145,619,088 (GRCm39) probably null 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
R3794:Smurf1 UTSW 5 144,837,985 (GRCm39) critical splice donor site probably null
R4274:Smurf1 UTSW 5 144,833,585 (GRCm39) intron probably benign
R4282:Smurf1 UTSW 5 144,819,403 (GRCm39) missense probably damaging 1.00
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'- AAGCAGAGTCCACCAAGATG -3'
(R):5'- TTGTCACTCATCTGAGCAGCC -3'

Sequencing Primer
(F):5'- TAACACAAACTTCCTTGCGTG -3'
(R):5'- ATCTGAGCAGCCCTGTCGTTAG -3'
Posted On 2015-06-20