Incidental Mutation 'R0421:Sbds'
ID 37054
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 038623-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0421 (G1)
Quality Score 218
Status Validated
Chromosome 5
Chromosomal Location 130274573-130284371 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 130282774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026387] [ENSMUST00000040213] [ENSMUST00000044204] [ENSMUST00000100662] [ENSMUST00000125625] [ENSMUST00000139211] [ENSMUST00000147619]
AlphaFold P70122
Predicted Effect probably benign
Transcript: ENSMUST00000026387
SMART Domains Protein: ENSMUSP00000026387
Gene: ENSMUSG00000025337

DomainStartEndE-ValueType
Pfam:SBDS 14 101 1.2e-36 PFAM
Pfam:SBDS_C 107 225 2.1e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040213
SMART Domains Protein: ENSMUSP00000037173
Gene: ENSMUSG00000056310

DomainStartEndE-ValueType
transmembrane domain 20 39 N/A INTRINSIC
Pfam:Flavodoxin_1 73 224 1.6e-27 PFAM
low complexity region 276 288 N/A INTRINSIC
Pfam:Radical_SAM 399 581 1.1e-29 PFAM
Pfam:Wyosine_form 583 646 3.6e-29 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 benign
Transcript: ENSMUST00000100662
SMART Domains Protein: ENSMUSP00000098226
Gene: ENSMUSG00000056310

DomainStartEndE-ValueType
transmembrane domain 20 39 N/A INTRINSIC
Pfam:Flavodoxin_1 73 224 4.9e-28 PFAM
low complexity region 276 288 N/A INTRINSIC
low complexity region 319 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125625
SMART Domains Protein: ENSMUSP00000115494
Gene: ENSMUSG00000025337

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: ENSMUST00000200815
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173375
Predicted Effect probably benign
Transcript: ENSMUST00000147619
SMART Domains Protein: ENSMUSP00000123693
Gene: ENSMUSG00000056310

DomainStartEndE-ValueType
Pfam:Flavodoxin_1 50 201 4.3e-28 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 97% (67/69)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 G A 2: 22,850,839 (GRCm39) T195I probably damaging Het
Afap1l1 T C 18: 61,884,945 (GRCm39) N180S probably damaging Het
Arsg A G 11: 109,418,592 (GRCm39) Y196C probably damaging Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
Atp2b2 C A 6: 113,790,849 (GRCm39) R185L probably damaging Het
Ccr9 A T 9: 123,608,671 (GRCm39) M118L probably benign Het
Cdh12 A T 15: 21,480,310 (GRCm39) probably null Het
Cdk13 T C 13: 17,937,755 (GRCm39) S763G probably damaging Het
Cenpk C A 13: 104,378,911 (GRCm39) N177K probably benign Het
Cfap43 T G 19: 47,824,014 (GRCm39) N119T probably benign Het
Chrna6 T C 8: 27,898,415 (GRCm39) E101G probably null Het
Clasp2 G A 9: 113,683,370 (GRCm39) R400H probably benign Het
Col6a6 T C 9: 105,661,405 (GRCm39) M235V probably benign Het
Ddx49 A T 8: 70,748,282 (GRCm39) L291Q probably damaging Het
Dhrs7 A T 12: 72,699,860 (GRCm39) probably benign Het
Dnah5 A T 15: 28,229,687 (GRCm39) K107M possibly damaging Het
Dsg2 C T 18: 20,712,448 (GRCm39) R151C probably damaging Het
Dsn1 T C 2: 156,847,789 (GRCm39) T2A possibly damaging Het
Edem3 A G 1: 151,668,189 (GRCm39) probably benign Het
Eif3c T C 7: 126,162,884 (GRCm39) N133S possibly damaging Het
F10 A G 8: 13,095,097 (GRCm39) K85E probably benign Het
Fbn2 T A 18: 58,160,876 (GRCm39) probably benign Het
Gtpbp10 A T 5: 5,607,290 (GRCm39) H50Q probably benign Het
Hephl1 A G 9: 14,970,456 (GRCm39) F1013L probably benign Het
Hps3 C A 3: 20,083,480 (GRCm39) V238F probably benign Het
Kcna10 A C 3: 107,101,820 (GRCm39) K150N probably damaging Het
Kirrel1 C T 3: 86,990,914 (GRCm39) G636D probably damaging Het
Kndc1 G A 7: 139,488,912 (GRCm39) R189H probably damaging Het
Knop1 C T 7: 118,454,852 (GRCm39) E50K possibly damaging Het
Kplce T C 3: 92,776,291 (GRCm39) T131A probably damaging Het
Kpna7 T A 5: 144,926,551 (GRCm39) H467L possibly damaging Het
Lcn4 T C 2: 26,558,661 (GRCm39) N142D possibly damaging Het
Map3k3 T C 11: 106,039,741 (GRCm39) probably benign Het
Mdn1 A G 4: 32,684,707 (GRCm39) T806A probably benign Het
Nbeal1 T A 1: 60,307,598 (GRCm39) N1703K probably benign Het
Neurl4 T C 11: 69,799,360 (GRCm39) V914A probably damaging Het
Niban1 T A 1: 151,584,833 (GRCm39) probably benign Het
Nop56 T C 2: 130,118,692 (GRCm39) S275P possibly damaging Het
Or1j20 A G 2: 36,759,653 (GRCm39) E25G possibly damaging Het
Or52ac1 A G 7: 104,245,929 (GRCm39) V153A probably benign Het
Or7e174 A G 9: 20,012,771 (GRCm39) K239E probably damaging Het
Otof A C 5: 30,528,912 (GRCm39) I1827S possibly damaging Het
Pappa2 A T 1: 158,675,650 (GRCm39) I1032N probably damaging Het
Pcdh7 A G 5: 57,877,402 (GRCm39) E319G probably damaging Het
Pcdhb11 T A 18: 37,555,533 (GRCm39) S288T probably benign Het
Phip A T 9: 82,808,510 (GRCm39) D488E probably damaging Het
Pla2g7 A T 17: 43,922,303 (GRCm39) H394L probably damaging Het
Plk3 A G 4: 116,990,641 (GRCm39) V69A probably damaging Het
Prob1 C A 18: 35,786,083 (GRCm39) A724S possibly damaging Het
Prune2 T C 19: 17,100,675 (GRCm39) F2060L probably benign Het
Rgl3 G A 9: 21,887,328 (GRCm39) R498C probably benign Het
Rnf213 A C 11: 119,338,083 (GRCm39) N3362H probably damaging Het
Scn9a T C 2: 66,373,621 (GRCm39) S453G probably benign Het
Sh3rf3 T C 10: 58,819,897 (GRCm39) L236P probably damaging Het
Skint1 A G 4: 111,876,211 (GRCm39) N44S possibly damaging Het
Slc5a1 T A 5: 33,291,996 (GRCm39) I141N probably damaging Het
Tlcd3b G A 7: 126,424,187 (GRCm39) V44M probably damaging Het
Trank1 T A 9: 111,220,907 (GRCm39) I2548N probably damaging Het
Tsc22d2 G A 3: 58,324,749 (GRCm39) probably benign Het
Unc13c T A 9: 73,840,492 (GRCm39) I120F possibly damaging Het
Vmn2r11 T G 5: 109,207,294 (GRCm39) I9L probably benign Het
Vmn2r58 T G 7: 41,514,628 (GRCm39) N114H probably benign Het
Vps53 A G 11: 75,973,496 (GRCm39) L166P probably damaging Het
Zfp119a T A 17: 56,172,248 (GRCm39) K532* probably null Het
Zfp472 A G 17: 33,194,897 (GRCm39) T11A possibly damaging Het
Zfp512b T A 2: 181,230,051 (GRCm39) K87* probably null Het
Zfp518b G A 5: 38,831,918 (GRCm39) P29L probably damaging Het
Zfp599 A G 9: 22,161,843 (GRCm39) probably benign Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) 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
R0546:Sbds UTSW 5 130,282,919 (GRCm39) missense possibly damaging 0.93
R4693:Sbds UTSW 5 130,279,816 (GRCm39) missense probably damaging 1.00
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'- TGGATTCCGGTCCTAATCACTGCAT -3'
(R):5'- TCTCTCCTGCCCTTTCAAGGGAAAA -3'

Sequencing Primer
(F):5'- gaatcagaagttccatgccag -3'
(R):5'- AAAGACCTTGATGAAGTTCTGC -3'
Posted On 2013-05-09