Incidental Mutation 'IGL01640:Sftpd'
ID 93099
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sftpd
Ensembl Gene ENSMUSG00000021795
Gene Name surfactant associated protein D
Synonyms Sfpd, SP-D, Sftp4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # IGL01640
Quality Score
Status
Chromosome 14
Chromosomal Location 40894171-40907106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 40894592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 276 (A276S)
Ref Sequence ENSEMBL: ENSMUSP00000076383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077136]
AlphaFold P50404
Predicted Effect probably benign
Transcript: ENSMUST00000077136
AA Change: A276S

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000076383
Gene: ENSMUSG00000021795
AA Change: A276S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Collagen 40 96 5.7e-11 PFAM
low complexity region 99 117 N/A INTRINSIC
low complexity region 123 150 N/A INTRINSIC
Pfam:Collagen 162 224 3.3e-12 PFAM
CLECT 252 373 7.38e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225892
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the innate immune response, protecting the lungs against inhaled microorganisms and chemicals. The encoded protein may also be involved in surfactant metabolism. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit increased pool sizes of alveolar and tissue phosphatidylcholine, accumulation of surfactant lipids, altered phospholipid structure, emphysema, and pulmonary fibrosis and chronic inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,373,587 (GRCm39) T3A probably damaging Het
4933402N03Rik A T 7: 130,740,848 (GRCm39) S123T possibly damaging Het
Adamts17 A T 7: 66,679,428 (GRCm39) T559S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Arel1 G A 12: 84,967,475 (GRCm39) T783M probably damaging Het
B3gntl1 C T 11: 121,563,846 (GRCm39) E5K probably benign Het
Faf1 T A 4: 109,697,600 (GRCm39) F309I probably damaging Het
Fhod3 T G 18: 25,248,850 (GRCm39) M1343R probably benign Het
Fnbp1 A G 2: 30,995,303 (GRCm39) F44L probably damaging Het
Gm3633 A T 14: 42,460,324 (GRCm39) Y206* probably null Het
Gprc6a A C 10: 51,503,180 (GRCm39) F228V probably damaging Het
Il31ra T C 13: 112,668,292 (GRCm39) I453V possibly damaging Het
Kif2a A G 13: 107,111,060 (GRCm39) I529T probably damaging Het
Lrrc19 C T 4: 94,526,745 (GRCm39) V271I probably damaging Het
Ncaph2 A G 15: 89,248,041 (GRCm39) probably null Het
Nek5 A G 8: 22,610,856 (GRCm39) I49T probably benign Het
Nhlrc3 A T 3: 53,360,958 (GRCm39) probably benign Het
Or51ac3 A G 7: 103,214,228 (GRCm39) V86A probably damaging Het
Or52n20 A T 7: 104,320,871 (GRCm39) S321C probably damaging Het
Or8g28 C A 9: 39,169,559 (GRCm39) M136I probably damaging Het
Pcnx2 T C 8: 126,528,297 (GRCm39) T1308A probably benign Het
Pla2g6 T C 15: 79,188,513 (GRCm39) N448S probably benign Het
Pole T A 5: 110,446,132 (GRCm39) L571Q probably null Het
Rufy1 A G 11: 50,281,205 (GRCm39) probably benign Het
Slc35f4 A C 14: 49,556,225 (GRCm39) V176G probably damaging Het
Snrpb T C 2: 130,017,251 (GRCm39) D89G probably benign Het
Stab2 A T 10: 86,790,035 (GRCm39) V577D probably benign Het
Synrg A C 11: 83,872,334 (GRCm39) S152R probably damaging Het
Trgv7 T C 13: 19,362,260 (GRCm39) probably benign Het
Trpm1 A G 7: 63,876,645 (GRCm39) E682G probably damaging Het
Unc80 T C 1: 66,718,744 (GRCm39) I2989T probably benign Het
Vmn1r116 A G 7: 20,606,373 (GRCm39) T65A probably benign Het
Zfp469 G A 8: 122,998,009 (GRCm39) probably benign Het
Other mutations in Sftpd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02252:Sftpd APN 14 40,894,471 (GRCm39) missense probably damaging 1.00
IGL02283:Sftpd APN 14 40,894,423 (GRCm39) missense probably benign 0.01
R1474:Sftpd UTSW 14 40,894,384 (GRCm39) missense probably damaging 0.99
R2302:Sftpd UTSW 14 40,894,399 (GRCm39) missense probably damaging 1.00
R4282:Sftpd UTSW 14 40,894,537 (GRCm39) missense probably benign 0.03
R6945:Sftpd UTSW 14 40,896,449 (GRCm39) missense possibly damaging 0.88
R8069:Sftpd UTSW 14 40,894,538 (GRCm39) missense probably benign
R8463:Sftpd UTSW 14 40,897,583 (GRCm39) critical splice donor site probably null
R8963:Sftpd UTSW 14 40,905,001 (GRCm39) missense probably benign
R9346:Sftpd UTSW 14 40,896,466 (GRCm39) missense probably benign
Posted On 2013-12-09