Incidental Mutation 'R9291:Sftpb'
ID 704276
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: 0.663) question?
Stock # R9291 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 72281594-72291354 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 72286880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 261 (C261*)
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: C261*
SMART Domains Protein: ENSMUSP00000066805
Gene: ENSMUSG00000056370
AA Change: C261*

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 probably null
Transcript: ENSMUST00000183018
AA Change: C239*
SMART Domains Protein: ENSMUSP00000138695
Gene: ENSMUSG00000056370
AA Change: C239*

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,772,464 (GRCm39) N551S probably benign Het
Abcg5 C A 17: 84,976,380 (GRCm39) V486L probably benign Het
Acoxl T A 2: 127,814,493 (GRCm39) I303N probably damaging Het
Atp6v1h G T 1: 5,220,284 (GRCm39) W464L probably null Het
Cdcp2 A G 4: 106,964,053 (GRCm39) D301G probably damaging Het
Cenpv T C 11: 62,429,688 (GRCm39) D115G probably benign Het
Cnfn T C 7: 25,067,476 (GRCm39) D67G possibly damaging Het
Col27a1 A C 4: 63,142,539 (GRCm39) I76L probably damaging Het
Crb2 G A 2: 37,682,213 (GRCm39) V865I probably damaging Het
Ctf1 T A 7: 127,316,204 (GRCm39) L58Q probably damaging Het
Dennd6b C T 15: 89,071,590 (GRCm39) V276M possibly damaging Het
Dis3l2 A G 1: 86,901,215 (GRCm39) T483A possibly damaging Het
Dlg5 T C 14: 24,241,229 (GRCm39) T223A probably damaging Het
Dnah11 C T 12: 117,991,251 (GRCm39) E2372K probably damaging Het
Dnah8 T C 17: 30,944,099 (GRCm39) I1772T probably damaging Het
Dscaml1 T C 9: 45,359,251 (GRCm39) I170T probably damaging Het
Ehd4 G T 2: 119,921,755 (GRCm39) D500E probably damaging Het
Elac2 T C 11: 64,883,142 (GRCm39) I388T probably damaging Het
Entpd6 G A 2: 150,608,959 (GRCm39) V348M probably benign Het
Epg5 T A 18: 78,056,065 (GRCm39) C1746* probably null Het
Exosc2 G T 2: 31,560,871 (GRCm39) M40I probably benign Het
Fam193a T C 5: 34,593,835 (GRCm39) Y27H probably damaging Het
Gm8005 A G 14: 42,258,885 (GRCm39) F148L Het
Hectd4 T C 5: 121,487,028 (GRCm39) V3341A probably benign Het
Hecw1 A G 13: 14,491,522 (GRCm39) V77A probably benign Het
Irf2bp1 T A 7: 18,738,458 (GRCm39) C33S probably damaging Het
Kank4 A T 4: 98,666,688 (GRCm39) H586Q probably benign Het
Kcnu1 A G 8: 26,390,041 (GRCm39) N619S probably benign Het
Kndc1 A G 7: 139,475,140 (GRCm39) E13G possibly damaging Het
Lrp2 A T 2: 69,310,379 (GRCm39) D2731E probably damaging Het
Lyst A G 13: 13,883,938 (GRCm39) N2942S probably benign Het
Maml3 G A 3: 51,764,328 (GRCm39) T212M probably benign Het
Mill2 T C 7: 18,575,416 (GRCm39) V41A probably benign Het
Moxd2 C A 6: 40,857,362 (GRCm39) C466F probably damaging Het
Nefh A G 11: 4,890,871 (GRCm39) S583P probably benign Het
Nlrp9b T A 7: 19,758,511 (GRCm39) S583T possibly damaging Het
Nup214 T G 2: 31,867,806 (GRCm39) M91R probably benign Het
Or4c121 A C 2: 89,024,138 (GRCm39) M80R possibly damaging Het
Or6c206 T C 10: 129,097,202 (GRCm39) I124T probably damaging Het
Or8k53 A T 2: 86,177,768 (GRCm39) I114N probably benign Het
Otud4 A G 8: 80,372,952 (GRCm39) Y90C probably damaging Het
Papln C A 12: 83,825,284 (GRCm39) T575N probably benign Het
Pkhd1l1 T A 15: 44,433,372 (GRCm39) N3417K probably damaging Het
Pop7 A G 5: 137,499,911 (GRCm39) *141Q probably null Het
Pramel26 A T 4: 143,539,251 (GRCm39) Y81N probably benign Het
Rchy1 A G 5: 92,099,765 (GRCm39) L191S possibly damaging Het
Rims1 T C 1: 22,467,746 (GRCm39) D296G Het
Sgcd C T 11: 46,870,166 (GRCm39) C265Y probably damaging Het
Slc44a5 G A 3: 153,962,218 (GRCm39) V384M possibly damaging Het
Slx4ip T A 2: 136,888,716 (GRCm39) N132K probably benign Het
Sspo C T 6: 48,473,330 (GRCm39) T4861M probably damaging Het
Swt1 T A 1: 151,286,694 (GRCm39) E266V probably damaging Het
Tbc1d9 A G 8: 83,987,750 (GRCm39) D903G probably damaging Het
Tbx18 A T 9: 87,611,535 (GRCm39) M165K probably damaging Het
Tmem25 T C 9: 44,706,799 (GRCm39) N282S probably damaging Het
Tom1l2 T C 11: 60,153,556 (GRCm39) I140M probably benign Het
Trak2 A G 1: 58,943,058 (GRCm39) S783P probably damaging Het
Trpv4 G A 5: 114,768,068 (GRCm39) T534M probably benign Het
Ttc6 G T 12: 57,622,730 (GRCm39) R43M probably damaging Het
Vmn1r194 A G 13: 22,428,875 (GRCm39) Y164C probably benign Het
Vmn1r228 T C 17: 20,997,023 (GRCm39) Y165C probably benign Het
Vps13b C A 15: 35,847,059 (GRCm39) T2614K probably damaging Het
Zdhhc14 T C 17: 5,698,237 (GRCm39) F102S probably benign Het
Zyg11b A G 4: 108,108,014 (GRCm39) M464T probably benign 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
R9365:Sftpb UTSW 6 72,284,189 (GRCm39) nonsense probably null
R9432:Sftpb UTSW 6 72,283,843 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CATCGTGCCAGAAGAAGGTTC -3'
(R):5'- GAAGTCCACTTGGAGAGAGC -3'

Sequencing Primer
(F):5'- CCAGAAGAAGGTTCTATGGTTGTCC -3'
(R):5'- AGCTGAGTACAGTCATGCTAGCC -3'
Posted On 2022-03-25