Incidental Mutation 'R9312:Smurf1'
ID 705645
Institutional Source Beutler Lab
Gene Symbol Smurf1
Ensembl Gene ENSMUSG00000038780
Gene Name SMAD specific E3 ubiquitin protein ligase 1
Synonyms 4930431E10Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9312 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 144813305-144902657 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 144830893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 294 (P294H)
Ref Sequence ENSEMBL: ENSMUSP00000106305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085684] [ENSMUST00000100461] [ENSMUST00000110677]
AlphaFold Q9CUN6
Predicted Effect probably benign
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 benign
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 damaging
Transcript: ENSMUST00000110677
AA Change: P294H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106305
Gene: ENSMUSG00000038780
AA Change: P294H

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 probably benign
Transcript: ENSMUST00000198621
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 A G 7: 139,565,791 (GRCm39) L607P probably damaging Het
Adamts16 T A 13: 70,949,045 (GRCm39) R205S probably damaging Het
Adgra3 T C 5: 50,117,900 (GRCm39) Y1216C probably damaging Het
Arl3 A G 19: 46,531,964 (GRCm39) V91A probably damaging Het
Bckdhb A T 9: 83,870,833 (GRCm39) K114N probably benign Het
Cabin1 A T 10: 75,561,569 (GRCm39) D150E probably benign Het
Cadps G A 14: 12,616,095 (GRCm38) R312C probably damaging Het
Cep120 A G 18: 53,860,713 (GRCm39) I239T probably benign Het
Clec4g T A 8: 3,768,371 (GRCm39) E120V probably null Het
Col18a1 T C 10: 76,894,606 (GRCm39) E1022G probably damaging Het
Cyfip2 A G 11: 46,167,709 (GRCm39) I231T possibly damaging Het
Dcaf17 T C 2: 70,908,458 (GRCm39) Y228H probably benign Het
Ddx41 T A 13: 55,683,842 (GRCm39) Q52L probably benign Het
Dync2h1 T C 9: 7,050,413 (GRCm39) Y3212C probably damaging Het
Etv4 A G 11: 101,664,923 (GRCm39) Y177H probably benign Het
Fer1l5 A G 1: 36,460,248 (GRCm39) E1910G probably damaging Het
Fgf11 G T 11: 69,689,412 (GRCm39) H195Q probably damaging Het
Gatb A G 3: 85,561,070 (GRCm39) K529E probably damaging Het
Gfus T C 15: 75,797,169 (GRCm39) Y292C possibly damaging Het
Gsdmc C A 15: 63,649,806 (GRCm39) A362S probably damaging Het
Gucy1b1 A T 3: 81,942,123 (GRCm39) N545K probably damaging Het
Heatr1 A G 13: 12,446,565 (GRCm39) H1638R probably benign Het
Hecw1 T G 13: 14,546,567 (GRCm39) I145L probably damaging Het
Hmmr A G 11: 40,614,316 (GRCm39) V124A possibly damaging Het
Il31ra C T 13: 112,686,023 (GRCm39) V89I probably benign Het
Kcnmb3 A T 3: 32,536,575 (GRCm39) M51K probably benign Het
Lamb1 C T 12: 31,368,352 (GRCm39) R1209C probably damaging Het
Lcn6 G T 2: 25,570,074 (GRCm39) G80V probably benign Het
Lgsn A G 1: 31,243,280 (GRCm39) E454G probably benign Het
Loxhd1 G A 18: 77,498,285 (GRCm39) M1624I probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mapk8ip3 T C 17: 25,146,925 (GRCm39) probably null Het
Mlip A G 9: 77,147,060 (GRCm39) Y26H probably damaging Het
Nipsnap1 A C 11: 4,839,902 (GRCm39) I208L possibly damaging Het
Nusap1 CGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGA 2: 119,458,119 (GRCm39) probably benign Het
Or5m11 T A 2: 85,781,509 (GRCm39) V34D possibly damaging Het
Pigr C T 1: 130,762,185 (GRCm39) T7M probably benign Het
Pigu T C 2: 155,199,315 (GRCm39) M1V probably null Het
Pkd1 T A 17: 24,797,364 (GRCm39) I2568N probably damaging Het
Psmd4 A T 3: 94,940,729 (GRCm39) S345T probably benign Het
Rab3gap2 A T 1: 185,015,684 (GRCm39) M1321L probably benign Het
Rnf157 A G 11: 116,240,158 (GRCm39) probably null Het
Sart3 C T 5: 113,900,935 (GRCm39) E168K possibly damaging Het
Scnn1g A G 7: 121,339,818 (GRCm39) K206E probably benign Het
Smg6 A C 11: 74,820,877 (GRCm39) S383R probably benign Het
Sspo A T 6: 48,445,396 (GRCm39) H2279L probably benign Het
Tacc2 A T 7: 130,223,978 (GRCm39) D221V probably benign Het
Tgm6 T A 2: 129,977,701 (GRCm39) H13Q probably benign Het
Tnfaip8l2 T C 3: 95,047,767 (GRCm39) D32G probably damaging Het
Tppp A G 13: 74,179,377 (GRCm39) D167G probably damaging Het
Trak1 A G 9: 121,280,757 (GRCm39) E382G probably benign Het
Trdv2-1 C T 14: 54,183,570 (GRCm39) T14I probably benign Het
Ubr3 A T 2: 69,784,677 (GRCm39) D799V probably damaging Het
Usp28 T A 9: 48,926,439 (GRCm39) Y317* probably null Het
Vmn1r225 C T 17: 20,722,960 (GRCm39) L134F probably benign Het
Vmn2r86 A G 10: 130,288,406 (GRCm39) I365T probably benign Het
Wfikkn2 A G 11: 94,129,497 (GRCm39) S215P probably damaging Het
Xrcc2 A G 5: 25,897,124 (GRCm39) V275A probably damaging Het
Zfp423 T A 8: 88,508,569 (GRCm39) I592F 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
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
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
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'- CCAAAGACAGGAAGCTGCTTG -3'
(R):5'- AAACATGGTGGGCTGTTGAAATTG -3'

Sequencing Primer
(F):5'- CAGGAAGCTGCTTGGGGGTAG -3'
(R):5'- GCTGTTGAAATTGGCCATCTAC -3'
Posted On 2022-03-25