Incidental Mutation 'R8882:Sbds'
ID 676972
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 068750-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8882 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 130274573-130284371 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 130282778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026387] [ENSMUST00000026387] [ENSMUST00000040213] [ENSMUST00000044204] [ENSMUST00000100662] [ENSMUST00000125625] [ENSMUST00000139211] [ENSMUST00000147619]
AlphaFold P70122
Predicted Effect probably null
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 null
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 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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (55/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 A T 13: 111,392,033 (GRCm39) I123L probably benign Het
Adam18 T C 8: 25,136,438 (GRCm39) D361G probably benign Het
Adcyap1r1 G A 6: 55,468,219 (GRCm39) V352M possibly damaging Het
Ahnak T C 19: 8,978,106 (GRCm39) L75P probably damaging Het
Arhgap23 T C 11: 97,355,949 (GRCm39) S856P probably benign Het
Asprv1 G T 6: 86,605,349 (GRCm39) C65F probably benign Het
Atp2b4 A T 1: 133,654,193 (GRCm39) probably null Het
Cd55 A G 1: 130,387,501 (GRCm39) V99A probably benign Het
Cit G A 5: 116,001,089 (GRCm39) A163T probably benign Het
Dnah6 A T 6: 73,155,481 (GRCm39) D711E probably benign Het
Dnajc15 A T 14: 78,094,411 (GRCm39) V41E probably damaging Het
Dock2 GCACACACACA GCACACACACACA 11: 34,595,436 (GRCm39) 453 probably null Het
Dst T C 1: 34,240,005 (GRCm39) S1785P probably damaging Het
Efhb A G 17: 53,769,712 (GRCm39) V199A probably damaging Het
Esyt3 C T 9: 99,202,909 (GRCm39) G498D probably damaging Het
Fbxo11 A G 17: 88,304,957 (GRCm39) I562T Het
Fh1 C T 1: 175,437,353 (GRCm39) V249I possibly damaging Het
Gdpgp1 T C 7: 79,888,704 (GRCm39) I245T possibly damaging Het
Hinfp A G 9: 44,209,629 (GRCm39) probably null Het
Hip1r A G 5: 124,140,025 (GRCm39) K1043E probably damaging Het
Htt G A 5: 34,979,061 (GRCm39) V815I probably benign Het
Jrk A G 15: 74,579,004 (GRCm39) Y94H probably damaging Het
Krit1 T A 5: 3,886,864 (GRCm39) N704K possibly damaging Het
Mmp17 A G 5: 129,679,008 (GRCm39) D331G probably benign Het
Nlrp9a T A 7: 26,257,703 (GRCm39) Y440* probably null Het
Nphp3 A G 9: 103,882,793 (GRCm39) T216A possibly damaging Het
Or1e1f T G 11: 73,855,940 (GRCm39) C169G probably damaging Het
Or4a79 G T 2: 89,551,740 (GRCm39) C238* probably null Het
Or5ae2 T C 7: 84,505,681 (GRCm39) Y37H probably damaging Het
Or7e176 T C 9: 20,171,256 (GRCm39) F40S probably benign Het
Or8c15 T A 9: 38,120,461 (GRCm39) Y35* probably null Het
Parva T C 7: 112,027,211 (GRCm39) S14P probably benign Het
Pax6 A C 2: 105,521,963 (GRCm39) N207H possibly damaging Het
Pde6a A G 18: 61,378,619 (GRCm39) N314S Het
Phlpp1 T A 1: 106,320,372 (GRCm39) S1456T probably benign Het
Plxnc1 A G 10: 94,677,428 (GRCm39) V933A probably damaging Het
Rasgef1b A G 5: 99,524,860 (GRCm39) S100P probably benign Het
Rpn2 A G 2: 157,136,102 (GRCm39) H170R probably benign Het
Scube2 G C 7: 109,451,680 (GRCm39) L158V probably damaging Het
Slc16a12 C A 19: 34,649,854 (GRCm39) V394L probably benign Het
Slc23a2 A T 2: 131,933,159 (GRCm39) Y100N possibly damaging Het
Slc30a9 G T 5: 67,473,044 (GRCm39) E43* probably null Het
Specc1l A T 10: 75,065,689 (GRCm39) M1L unknown Het
Sspo T A 6: 48,452,390 (GRCm39) C2785S probably damaging Het
Star T C 8: 26,302,897 (GRCm39) S280P probably benign Het
Strip1 A T 3: 107,534,341 (GRCm39) M127K probably benign Het
Tbx19 C T 1: 164,966,780 (GRCm39) V365M probably benign Het
Tex2 T C 11: 106,435,062 (GRCm39) D788G unknown Het
Tspyl1 A G 10: 34,158,494 (GRCm39) E73G possibly damaging Het
Ulk2 C T 11: 61,698,887 (GRCm39) probably null Het
Vmn2r120 A T 17: 57,852,229 (GRCm39) M29K probably benign Het
Vmn2r60 C A 7: 41,790,518 (GRCm39) Q502K probably benign Het
Xpo5 A G 17: 46,538,666 (GRCm39) D624G possibly damaging Het
Zfp119b T C 17: 56,246,923 (GRCm39) R88G possibly damaging Het
Zfp879 C A 11: 50,724,763 (GRCm39) E98* probably null 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
R6144:Sbds UTSW 5 130,275,185 (GRCm39) missense probably benign
R8003:Sbds UTSW 5 130,279,726 (GRCm39) missense possibly damaging 0.92
R8905:Sbds UTSW 5 130,277,125 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CGGTCCTAATCACTGCATGC -3'
(R):5'- CCAGTGGATTCACATAGGACTTTCTC -3'

Sequencing Primer
(F):5'- TCCCTGGAGGAATCAGAAGTTCC -3'
(R):5'- GGATTCACATAGGACTTTCTCTCCTG -3'
Posted On 2021-07-15