Incidental Mutation 'IGL00562:Sftpb'
ID332615
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sftpb
Ensembl Gene ENSMUSG00000056370
Gene Namesurfactant associated protein B
SynonymsSftp-3, SP-B, SF-B, Sftp3
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.592) question?
Stock #IGL00562
Quality Score
Status
Chromosome6
Chromosomal Location72304610-72314371 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 72309862 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 228 (A228S)
Ref Sequence ENSEMBL: ENSMUSP00000138695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070437] [ENSMUST00000182014] [ENSMUST00000183018] [ENSMUST00000183278]
Predicted Effect probably benign
Transcript: ENSMUST00000070437
AA Change: A250S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000066805
Gene: ENSMUSG00000056370
AA Change: A250S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SAPA 27 60 1.27e-16 SMART
SapB 66 142 4.21e-21 SMART
low complexity region 159 182 N/A INTRINSIC
SapB 197 267 7.13e-10 SMART
SapB 292 361 2.5e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182014
SMART Domains Protein: ENSMUSP00000138204
Gene: ENSMUSG00000056370

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SAPA 27 60 1.27e-16 SMART
SapB 66 142 4.21e-21 SMART
low complexity region 159 182 N/A INTRINSIC
PDB:1DFW|A 192 216 1e-7 PDB
Blast:SapB 197 234 3e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182765
SMART Domains Protein: ENSMUSP00000138298
Gene: ENSMUSG00000056370

DomainStartEndE-ValueType
low complexity region 5 28 N/A INTRINSIC
Blast:SapB 43 91 1e-20 BLAST
PDB:2JOU|A 45 92 1e-7 PDB
SapB 116 185 2.5e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183018
AA Change: A228S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000138695
Gene: ENSMUSG00000056370
AA Change: A228S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SAPA 27 60 1.27e-16 SMART
SapB 66 142 4.21e-21 SMART
low complexity region 159 182 N/A INTRINSIC
Blast:SapB 197 245 3e-19 BLAST
PDB:2JOU|A 199 246 3e-7 PDB
SapB 270 339 2.5e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183278
SMART Domains Protein: ENSMUSP00000138485
Gene: ENSMUSG00000056370

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SAPA 27 60 1.27e-16 SMART
SapB 66 142 4.21e-21 SMART
low complexity region 159 182 N/A INTRINSIC
PDB:1DFW|A 192 216 1e-7 PDB
Blast:SapB 197 234 3e-15 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]
PHENOTYPE: Inactivation of this gene results in respiratory failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T C 5: 24,997,621 probably benign Het
AU016765 C A 17: 64,519,882 noncoding transcript Het
Chaf1b T C 16: 93,900,191 probably benign Het
Clstn2 A G 9: 97,582,452 probably benign Het
Crip1 T A 12: 113,153,612 probably null Het
Cubn A G 2: 13,294,230 S3211P probably benign Het
Dlx6 C T 6: 6,865,143 R172W probably damaging Het
Fktn A T 4: 53,747,007 probably null Het
Focad T A 4: 88,348,809 M1019K unknown Het
Fuca2 A T 10: 13,505,907 D188V probably damaging Het
Kcna3 A G 3: 107,036,730 D103G probably damaging Het
Mrpl19 A G 6: 81,965,872 V19A probably benign Het
Ndufb3 T A 1: 58,595,799 H103Q possibly damaging Het
Pkd1l3 T C 8: 109,656,147 V1675A possibly damaging Het
Ptger4 A T 15: 5,243,133 S2T probably benign Het
Saxo1 C T 4: 86,445,572 E225K probably damaging Het
Slc22a29 T A 19: 8,161,629 T490S probably benign Het
Slc29a1 T C 17: 45,589,992 N50S probably damaging Het
Smc6 T A 12: 11,301,531 S854T probably benign Het
Smim23 T C 11: 32,821,893 T58A probably benign Het
Tas2r134 T C 2: 51,628,088 I193T possibly damaging Het
Thsd7a G T 6: 12,379,659 probably null Het
Trav13n-4 T G 14: 53,363,966 V64G possibly damaging Het
Trmt10a G A 3: 138,147,416 E13K probably damaging Het
Txndc11 T C 16: 11,104,632 S239G probably damaging Het
Vmn2r96 T A 17: 18,583,815 N442K probably benign Het
Vps13a C T 19: 16,734,714 probably null Het
Other mutations in Sftpb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02013:Sftpb APN 6 72305671 missense probably benign 0.08
R1741:Sftpb UTSW 6 72305813 missense probably benign 0.03
R2159:Sftpb UTSW 6 72309786 missense probably damaging 1.00
R5108:Sftpb UTSW 6 72304656 missense probably damaging 1.00
R5315:Sftpb UTSW 6 72306892 missense probably benign 0.31
R5506:Sftpb UTSW 6 72304667 missense possibly damaging 0.46
R6415:Sftpb UTSW 6 72304649 missense probably damaging 0.96
R6622:Sftpb UTSW 6 72305655 missense possibly damaging 0.95
Posted On2015-08-05