Incidental Mutation 'R4693:Sbds'
ID 355026
Institutional Source Beutler Lab
Gene Symbol Sbds
Ensembl Gene ENSMUSG00000025337
Gene Name SBDS ribosome maturation factor
Synonyms 4733401P19Rik, Shwachman-Bodian-Diamond syndrome homolog (human)
MMRRC Submission 041944-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4693 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 130274573-130284371 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 130279816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 63 (R63W)
Ref Sequence ENSEMBL: ENSMUSP00000115494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026387] [ENSMUST00000044204] [ENSMUST00000125625] [ENSMUST00000139211]
AlphaFold P70122
Predicted Effect probably damaging
Transcript: ENSMUST00000026387
AA Change: R100W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026387
Gene: ENSMUSG00000025337
AA Change: R100W

DomainStartEndE-ValueType
Pfam:SBDS 14 101 1.2e-36 PFAM
Pfam:SBDS_C 107 225 2.1e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044204
SMART Domains Protein: ENSMUSP00000047318
Gene: ENSMUSG00000056310

DomainStartEndE-ValueType
transmembrane domain 20 39 N/A INTRINSIC
Pfam:Flavodoxin_1 73 224 1.5e-27 PFAM
low complexity region 276 288 N/A INTRINSIC
transmembrane domain 375 397 N/A INTRINSIC
transmembrane domain 423 445 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000125625
AA Change: R63W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115494
Gene: ENSMUSG00000025337
AA Change: R63W

DomainStartEndE-ValueType
Pfam:SBDS 3 66 2.1e-25 PFAM
Pfam:SBDS_C 69 173 9.9e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200815
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201598
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (79/79)
MGI Phenotype FUNCTION: This gene encodes a protein that is necessary for ribosome function and maintaining normal levels of protein synthesis. The encoded protein may function to activate ribosomes for translation, and may be involved in cellular response to stress and DNA damage. Loss of this gene is embryonic lethal while deficiency of the encoded protein in the pancreas is associated with symptoms of Shwachman-Diamond syndrome. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null allele display embryonic lethality before somite formation and failure of gastrulation. Heterozygotes for the same allele are viable and fertile with no signs of Shwachman-Diamond syndrome related abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T C 17: 85,004,125 (GRCm39) Y478H probably damaging Het
Adar A T 3: 89,643,247 (GRCm39) H128L probably damaging Het
Angptl6 G T 9: 20,786,598 (GRCm39) D349E probably damaging Het
Anxa9 T C 3: 95,204,667 (GRCm39) T286A probably benign Het
Apobr A G 7: 126,186,019 (GRCm39) N510S probably damaging Het
Atoh7 G T 10: 62,936,275 (GRCm39) R114L probably benign Het
Bank1 C G 3: 135,953,437 (GRCm39) R106P probably damaging Het
Best1 C T 19: 9,974,499 (GRCm39) G15D probably damaging Het
Best2 A T 8: 85,737,832 (GRCm39) F188I probably damaging Het
Ccdc88a T C 11: 29,432,241 (GRCm39) Y344H probably damaging Het
Col6a5 A G 9: 105,814,371 (GRCm39) L547P unknown Het
Cyp19a1 A T 9: 54,080,617 (GRCm39) S247T possibly damaging Het
Cyp26a1 T C 19: 37,686,925 (GRCm39) S126P probably benign Het
Dab1 G T 4: 104,536,750 (GRCm39) C180F probably damaging Het
Dclk2 T C 3: 86,722,400 (GRCm39) D412G possibly damaging Het
Dspp A T 5: 104,325,928 (GRCm39) S764C unknown Het
Dync1li1 C A 9: 114,535,166 (GRCm39) D143E probably damaging Het
Esm1 A T 13: 113,346,594 (GRCm39) D73V probably damaging Het
Etfdh A T 3: 79,513,110 (GRCm39) V431E probably damaging Het
Fam83c C T 2: 155,672,154 (GRCm39) R427H probably damaging Het
Galnt9 A G 5: 110,763,375 (GRCm39) Y93C probably damaging Het
Gm6818 G A 7: 38,100,126 (GRCm39) noncoding transcript Het
Gosr2 A G 11: 103,574,755 (GRCm39) S114P probably benign Het
Grip1 G A 10: 119,836,459 (GRCm39) V444I probably benign Het
Gvin-ps3 T G 7: 105,681,585 (GRCm39) noncoding transcript Het
Haus4 G T 14: 54,787,256 (GRCm39) A67E probably benign Het
Hectd2 T A 19: 36,591,738 (GRCm39) probably benign Het
Kndc1 T C 7: 139,501,695 (GRCm39) Y911H probably benign Het
Lim2 T C 7: 43,080,105 (GRCm39) Y31H probably damaging Het
Lims2 G A 18: 32,077,552 (GRCm39) R101H probably benign Het
Lrrc2 T A 9: 110,799,161 (GRCm39) M236K probably damaging Het
Lrrc37 T A 11: 103,510,686 (GRCm39) E427D unknown Het
Lrrk1 T C 7: 65,912,235 (GRCm39) Y1775C probably damaging Het
Mdga2 A G 12: 66,844,407 (GRCm39) V197A possibly damaging Het
Mfhas1 T A 8: 36,056,329 (GRCm39) L268Q probably damaging Het
Mlh1 A G 9: 111,084,726 (GRCm39) I216T probably damaging Het
Mrc2 G A 11: 105,234,528 (GRCm39) C1016Y probably benign Het
Mvp C A 7: 126,597,500 (GRCm39) V168F probably damaging Het
Mybphl A G 3: 108,282,494 (GRCm39) T176A probably benign Het
Myt1 T A 2: 181,437,532 (GRCm39) L81Q probably damaging Het
Ncbp3 T C 11: 72,966,503 (GRCm39) L453S probably benign Het
Or4c1 T A 2: 89,133,621 (GRCm39) E105V probably benign Het
Or4c114 T C 2: 88,905,412 (GRCm39) T8A possibly damaging Het
Or55b10 T A 7: 102,143,659 (GRCm39) I108F probably damaging Het
Or5b125-ps1 C A 19: 13,056,226 (GRCm39) noncoding transcript Het
Or5l14 A T 2: 87,793,053 (GRCm39) F61Y probably benign Het
Pak4 A T 7: 28,263,674 (GRCm39) M354K probably damaging Het
Pax3 T C 1: 78,173,383 (GRCm39) T2A probably benign Het
Pcdh17 A G 14: 84,770,960 (GRCm39) D1146G probably damaging Het
Pcyt1a T C 16: 32,289,042 (GRCm39) probably benign Het
Pfkp C T 13: 6,650,671 (GRCm39) G467D possibly damaging Het
Plin4 C A 17: 56,410,762 (GRCm39) G1090C probably damaging Het
Pth1r A G 9: 110,560,692 (GRCm39) V25A probably damaging Het
Ptk2b C T 14: 66,394,518 (GRCm39) G859S probably benign Het
Ptprf T A 4: 118,068,219 (GRCm39) E1772D probably benign Het
Sall2 T C 14: 52,551,935 (GRCm39) H420R probably damaging Het
Sccpdh A G 1: 179,495,975 (GRCm39) T19A possibly damaging Het
Scn8a A T 15: 100,913,572 (GRCm39) D988V probably damaging Het
Slamf6 C T 1: 171,761,680 (GRCm39) Q34* probably null Het
Slc22a6 T A 19: 8,601,016 (GRCm39) I403N probably damaging Het
Sox5 T C 6: 143,781,042 (GRCm39) Y574C probably damaging Het
Sptbn5 T A 2: 119,889,897 (GRCm39) probably benign Het
Srcap T A 7: 127,137,716 (GRCm39) V1022E probably damaging Het
Tbx3 G A 5: 119,815,635 (GRCm39) E292K possibly damaging Het
Tbx5 A T 5: 119,979,964 (GRCm39) H170L probably damaging Het
Tcf12 A T 9: 71,776,249 (GRCm39) probably benign Het
Themis G A 10: 28,658,647 (GRCm39) R558H probably damaging Het
Tiam1 T C 16: 89,640,170 (GRCm39) E849G possibly damaging Het
Vav3 A G 3: 109,470,534 (GRCm39) probably benign Het
Vmn2r90 T A 17: 17,953,956 (GRCm39) C707S possibly damaging Het
Vmn2r96 T G 17: 18,803,270 (GRCm39) N201K probably benign Het
Zfp148 C T 16: 33,288,505 (GRCm39) R207C probably damaging Het
Zfp648 G T 1: 154,080,152 (GRCm39) A104S probably benign Het
Other mutations in Sbds
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01409:Sbds APN 5 130,282,907 (GRCm39) missense probably damaging 1.00
IGL02111:Sbds APN 5 130,279,782 (GRCm39) missense probably damaging 1.00
R0421:Sbds UTSW 5 130,282,774 (GRCm39) unclassified probably benign
R0546:Sbds UTSW 5 130,282,919 (GRCm39) missense possibly damaging 0.93
R5527:Sbds UTSW 5 130,275,247 (GRCm39) missense possibly damaging 0.95
R6144:Sbds UTSW 5 130,275,185 (GRCm39) missense probably benign
R8003:Sbds UTSW 5 130,279,726 (GRCm39) missense possibly damaging 0.92
R8882:Sbds UTSW 5 130,282,778 (GRCm39) critical splice donor site probably null
R8905:Sbds UTSW 5 130,277,125 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ACTTCCATGGCCTTAGGTCC -3'
(R):5'- GGAACTCCTTGTAAGCTGCTGC -3'

Sequencing Primer
(F):5'- ATGGCCTTAGGTCCCGAGG -3'
(R):5'- TGCTGGGTTAAGGCAGCAC -3'
Posted On 2015-10-21