Incidental Mutation 'R9365:Sftpb'
ID 708893
Institutional Source Beutler Lab
Gene Symbol Sftpb
Ensembl Gene ENSMUSG00000056370
Gene Name surfactant associated protein B
Synonyms SF-B, Sftp-3, Sftp3, SP-B
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.629) question?
Stock # R9365 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 72281594-72291354 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 72284189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 203 (R203*)
Ref Sequence ENSEMBL: ENSMUSP00000066805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070437] [ENSMUST00000182014] [ENSMUST00000183018] [ENSMUST00000183278]
AlphaFold P50405
Predicted Effect probably null
Transcript: ENSMUST00000070437
AA Change: R203*
SMART Domains Protein: ENSMUSP00000066805
Gene: ENSMUSG00000056370
AA Change: R203*

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 null
Transcript: ENSMUST00000182014
AA Change: R203*
SMART Domains Protein: ENSMUSP00000138204
Gene: ENSMUSG00000056370
AA Change: R203*

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 probably null
Transcript: ENSMUST00000183018
AA Change: R203*
SMART Domains Protein: ENSMUSP00000138695
Gene: ENSMUSG00000056370
AA Change: R203*

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 null
Transcript: ENSMUST00000183278
AA Change: R203*
SMART Domains Protein: ENSMUSP00000138485
Gene: ENSMUSG00000056370
AA Change: R203*

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (60/60)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Ahi1 G A 10: 20,848,035 (GRCm39) R481Q probably damaging Het
Arhgef3 T C 14: 27,101,555 (GRCm39) I77T probably damaging Het
Ash1l T A 3: 88,889,207 (GRCm39) V362E possibly damaging Het
Bcat2 T A 7: 45,225,294 (GRCm39) F57L probably damaging Het
Ccdc73 C T 2: 104,738,011 (GRCm39) L36F probably damaging Het
Ccl19 C T 4: 42,756,288 (GRCm39) V15I probably benign Het
Cenpe T A 3: 134,954,207 (GRCm39) V1688E possibly damaging Het
Ces1a A T 8: 93,774,727 (GRCm39) F4I probably benign Het
Chchd6 G A 6: 89,551,413 (GRCm39) P83S probably benign Het
Cnr1 T C 4: 33,943,798 (GRCm39) M62T probably benign Het
Colec12 T C 18: 9,848,146 (GRCm39) L108P probably damaging Het
Cyb5a T C 18: 84,894,979 (GRCm39) probably benign Het
Dhrs4 C T 14: 55,724,776 (GRCm39) T181I probably benign Het
Disc1 T C 8: 125,851,285 (GRCm39) S392P probably benign Het
Dnah3 A G 7: 119,566,859 (GRCm39) F69L Het
Ehmt1 T C 2: 24,728,722 (GRCm39) D726G probably damaging Het
Epg5 T A 18: 77,997,957 (GRCm39) L462I probably damaging Het
Exoc2 A T 13: 31,040,697 (GRCm39) S774T probably benign Het
Fam135b A G 15: 71,334,813 (GRCm39) S794P probably benign Het
Frmd4a T C 2: 4,606,973 (GRCm39) V646A probably benign Het
Gm3543 G T 14: 41,804,093 (GRCm39) D57E possibly damaging Het
Golgb1 T A 16: 36,736,124 (GRCm39) D1831E probably damaging Het
Hace1 T G 10: 45,586,092 (GRCm39) probably null Het
Irgc T C 7: 24,131,872 (GRCm39) E315G possibly damaging Het
Ism1 A G 2: 139,582,321 (GRCm39) Y211C probably damaging Het
Kpna1 T G 16: 35,833,287 (GRCm39) V121G probably damaging Het
Lifr T A 15: 7,198,521 (GRCm39) F250L probably damaging Het
Llgl2 A G 11: 115,740,407 (GRCm39) T368A probably benign Het
Lmln T A 16: 32,925,169 (GRCm39) C467* probably null Het
Lrrtm3 T C 10: 63,923,943 (GRCm39) E408G probably benign Het
Melk C T 4: 44,340,693 (GRCm39) A330V probably null Het
Mmp13 T G 9: 7,277,921 (GRCm39) D271E probably benign Het
Myh11 T C 16: 14,052,297 (GRCm39) T390A Het
Myh8 A G 11: 67,174,632 (GRCm39) K249R probably benign Het
Nr1h4 T A 10: 89,319,315 (GRCm39) M184L probably damaging Het
Obscn T A 11: 58,885,337 (GRCm39) probably null Het
Otog T G 7: 45,920,688 (GRCm39) C964G probably damaging Het
Oxct2b T C 4: 123,010,589 (GRCm39) S170P probably benign Het
Pcdha4 T C 18: 37,087,112 (GRCm39) S432P possibly damaging Het
Prb1a T A 6: 132,184,201 (GRCm39) R477S unknown Het
Prh1 G A 6: 132,549,108 (GRCm39) G205D unknown Het
Psg23 C T 7: 18,344,393 (GRCm39) G354D probably damaging Het
Pura T G 18: 36,420,913 (GRCm39) D233E possibly damaging Het
Rb1cc1 G T 1: 6,315,117 (GRCm39) L423F probably damaging Het
Rimbp3 T C 16: 17,026,620 (GRCm39) S15P possibly damaging Het
Scn1a A G 2: 66,148,465 (GRCm39) F7L probably benign Het
Slc30a9 A G 5: 67,507,142 (GRCm39) K478R probably damaging Het
Slc35f5 T A 1: 125,496,333 (GRCm39) M156K probably benign Het
Slc41a3 A G 6: 90,612,327 (GRCm39) I232V probably benign Het
Slit2 A G 5: 48,461,534 (GRCm39) D1527G probably benign Het
Srfbp1 T G 18: 52,623,540 (GRCm39) V389G possibly damaging Het
Sun2 C T 15: 79,622,720 (GRCm39) probably null Het
Tep1 G T 14: 51,064,597 (GRCm39) A2386D probably damaging Het
Tex15 T A 8: 34,064,564 (GRCm39) S1331R possibly damaging Het
Tgm1 A T 14: 55,942,349 (GRCm39) N667K probably damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tsen54 T C 11: 115,713,410 (GRCm39) F438L probably damaging Het
Ube4a T C 9: 44,862,191 (GRCm39) H150R probably benign Het
Uty T C Y: 1,099,712 (GRCm39) N1161S possibly damaging Het
Vmn2r16 T A 5: 109,488,064 (GRCm39) D312E probably damaging Het
Wdr55 T G 18: 36,893,354 (GRCm39) C5W probably damaging Het
Zbtb24 C A 10: 41,332,540 (GRCm39) P405Q probably damaging Het
Zkscan2 T A 7: 123,079,591 (GRCm39) I789F probably damaging Het
Other mutations in Sftpb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Sftpb APN 6 72,286,845 (GRCm39) missense probably benign 0.03
IGL02013:Sftpb APN 6 72,282,655 (GRCm39) missense probably benign 0.08
R1741:Sftpb UTSW 6 72,282,797 (GRCm39) missense probably benign 0.03
R2159:Sftpb UTSW 6 72,286,770 (GRCm39) missense probably damaging 1.00
R5108:Sftpb UTSW 6 72,281,640 (GRCm39) missense probably damaging 1.00
R5315:Sftpb UTSW 6 72,283,876 (GRCm39) missense probably benign 0.31
R5506:Sftpb UTSW 6 72,281,651 (GRCm39) missense possibly damaging 0.46
R6415:Sftpb UTSW 6 72,281,633 (GRCm39) missense probably damaging 0.96
R6622:Sftpb UTSW 6 72,282,639 (GRCm39) missense possibly damaging 0.95
R7130:Sftpb UTSW 6 72,282,808 (GRCm39) missense possibly damaging 0.89
R7342:Sftpb UTSW 6 72,286,858 (GRCm39) missense probably benign 0.01
R7527:Sftpb UTSW 6 72,282,048 (GRCm39) missense possibly damaging 0.69
R7644:Sftpb UTSW 6 72,286,818 (GRCm39) missense probably benign 0.27
R9291:Sftpb UTSW 6 72,286,880 (GRCm39) nonsense probably null
R9432:Sftpb UTSW 6 72,283,843 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AATCCAGAAGGCTAGCATGG -3'
(R):5'- AAGGTGGCTCTGACCTAACC -3'

Sequencing Primer
(F):5'- TAGCATGGCCGCTGAGAC -3'
(R):5'- TCCCATACCTGAGCCTCAAGG -3'
Posted On 2022-04-18