Incidental Mutation 'R6144:Sbds'
ID 488731
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 044291-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6144 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 130274573-130284371 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130275185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 248 (K248E)
Ref Sequence ENSEMBL: ENSMUSP00000026387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026387] [ENSMUST00000065329] [ENSMUST00000111298] [ENSMUST00000125625] [ENSMUST00000139211]
AlphaFold P70122
Predicted Effect probably benign
Transcript: ENSMUST00000026387
AA Change: K248E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026387
Gene: ENSMUSG00000025337
AA Change: K248E

DomainStartEndE-ValueType
Pfam:SBDS 14 101 1.2e-36 PFAM
Pfam:SBDS_C 107 225 2.1e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000065329
SMART Domains Protein: ENSMUSP00000067501
Gene: ENSMUSG00000053094

DomainStartEndE-ValueType
Pfam:TMEM219 10 258 1.7e-97 PFAM
transmembrane domain 268 290 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111298
SMART Domains Protein: ENSMUSP00000106929
Gene: ENSMUSG00000053094

DomainStartEndE-ValueType
Pfam:TMEM219 10 257 1.8e-86 PFAM
transmembrane domain 268 290 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
Meta Mutation Damage Score 0.1383 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 96% (65/68)
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
3300002I08Rik A T 2: 150,186,564 (GRCm39) D40E possibly damaging Het
4921517D22Rik C T 13: 59,837,347 (GRCm39) R246H probably damaging Het
Agbl1 A G 7: 76,069,832 (GRCm39) T203A probably benign Het
Alms1 T A 6: 85,600,056 (GRCm39) D2096E probably damaging Het
Ankrd53 T C 6: 83,739,639 (GRCm39) probably benign Het
Arap3 C A 18: 38,118,486 (GRCm39) G814C probably damaging Het
Armc9 T G 1: 86,172,301 (GRCm39) I5S probably benign Het
Catsperg1 T C 7: 28,910,120 (GRCm39) T74A probably damaging Het
Cdca7l T A 12: 117,837,446 (GRCm39) probably null Het
Cfhr2 T A 1: 139,733,153 (GRCm39) probably benign Het
Chpt1 A G 10: 88,288,955 (GRCm39) probably benign Het
Cntrl A C 2: 35,055,745 (GRCm39) D1213A possibly damaging Het
Col7a1 C T 9: 108,803,148 (GRCm39) R2149C unknown Het
Cpa4 T C 6: 30,585,082 (GRCm39) S289P probably damaging Het
Cpsf3 G A 12: 21,356,887 (GRCm39) probably null Het
Creb3l1 T C 2: 91,822,350 (GRCm39) H212R possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp2c29 A G 19: 39,310,053 (GRCm39) D254G possibly damaging Het
Dennd1b A G 1: 139,008,993 (GRCm39) H232R probably damaging Het
Dhx29 T C 13: 113,101,105 (GRCm39) L1216P probably damaging Het
Dsg1b T C 18: 20,529,476 (GRCm39) I307T possibly damaging Het
Ep300 A G 15: 81,485,435 (GRCm39) S141G unknown Het
Evl A C 12: 108,619,290 (GRCm39) K101T probably damaging Het
Exph5 G A 9: 53,284,328 (GRCm39) G470R probably benign Het
Flg A T 3: 93,190,515 (GRCm39) probably benign Het
Gm45704 T A 8: 73,510,920 (GRCm39) Het
Grm1 T C 10: 10,955,640 (GRCm39) M215V probably benign Het
Hadha T C 5: 30,345,994 (GRCm39) D210G probably benign Het
Hmcn1 T C 1: 150,598,175 (GRCm39) Y1709C probably damaging Het
Hrc A T 7: 44,986,157 (GRCm39) H436L possibly damaging Het
Hycc1 T C 5: 24,171,367 (GRCm39) S352G possibly damaging Het
Ido1 T A 8: 25,075,306 (GRCm39) T259S possibly damaging Het
Itgb7 C A 15: 102,131,917 (GRCm39) R222L probably benign Het
Khnyn T C 14: 56,125,296 (GRCm39) V485A probably damaging Het
Kifc5b T C 17: 27,140,826 (GRCm39) V100A probably benign Het
Lsm10 T C 4: 125,991,794 (GRCm39) M50T probably damaging Het
Map3k6 T G 4: 132,972,986 (GRCm39) W382G probably damaging Het
Mink1 T A 11: 70,501,478 (GRCm39) F922I possibly damaging Het
Mrap2 T C 9: 87,057,871 (GRCm39) V53A probably damaging Het
Mrps7 C A 11: 115,495,000 (GRCm39) A5E probably benign Het
Muc4 A G 16: 32,587,298 (GRCm39) N2713S possibly damaging Het
Nckipsd T C 9: 108,689,585 (GRCm39) S249P probably damaging Het
Neil3 T C 8: 54,052,447 (GRCm39) T384A probably benign Het
Noc3l A T 19: 38,787,399 (GRCm39) I504K probably damaging Het
Nudt13 A G 14: 20,357,839 (GRCm39) N107S probably benign Het
Or11h4b C A 14: 50,918,392 (GRCm39) R233L probably benign Het
Or2n1 T A 17: 38,486,116 (GRCm39) L47H probably damaging Het
Or5c1 T A 2: 37,222,125 (GRCm39) M122K probably damaging Het
Otub1 G T 19: 7,176,518 (GRCm39) Y205* probably null Het
Pals1 T C 12: 78,871,563 (GRCm39) V381A possibly damaging Het
Pierce2 C A 9: 72,887,270 (GRCm39) C79F probably damaging Het
Plpp7 T A 2: 31,986,100 (GRCm39) S93T probably damaging Het
Pxk T G 14: 8,138,011 (GRCm38) Y188D probably damaging Het
Rigi T C 4: 40,229,551 (GRCm39) I78V probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpap1 A T 2: 119,603,128 (GRCm39) C602* probably null Het
Serpina10 A T 12: 103,595,092 (GRCm39) N42K probably benign Het
Slc7a8 A G 14: 54,966,797 (GRCm39) L368P probably damaging Het
Srrm1 T C 4: 135,065,184 (GRCm39) probably benign Het
Sun2 C T 15: 79,614,533 (GRCm39) V288I probably benign Het
Tas2r107 C A 6: 131,636,966 (GRCm39) A28S possibly damaging Het
Tbc1d9b T C 11: 50,037,155 (GRCm39) I268T probably benign Het
Tjp2 A G 19: 24,097,437 (GRCm39) F495L probably damaging Het
Top2b T C 14: 16,423,740 (GRCm38) L1434P possibly damaging Het
Top3b A G 16: 16,697,005 (GRCm39) probably null Het
Trdv2-2 A T 14: 54,198,761 (GRCm39) E17V possibly damaging Het
Ttc6 T A 12: 57,719,886 (GRCm39) L819Q possibly damaging Het
Txlnb A G 10: 17,718,914 (GRCm39) T582A probably benign Het
Zfp788 T C 7: 41,299,193 (GRCm39) S558P probably damaging 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
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
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'- AGCAGCTGTTCTGGACTCTG -3'
(R):5'- GCTTATTCTGTGCCGATGC -3'

Sequencing Primer
(F):5'- TTTGCTGGAAACCCCAATTGAC -3'
(R):5'- GATGCCCATCTTCCCTTGGAAAC -3'
Posted On 2017-10-10