Incidental Mutation 'IGL01112:Sftpa1'
ID 52691
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sftpa1
Ensembl Gene ENSMUSG00000021789
Gene Name surfactant associated protein A1
Synonyms SP-A, SFTPA1, surfactant pulmonary associated protein A1, Sftp1, Sftp-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # IGL01112
Quality Score
Status
Chromosome 14
Chromosomal Location 40853745-40858330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40854527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 38 (N38I)
Ref Sequence ENSEMBL: ENSMUSP00000129696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022314] [ENSMUST00000170719]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000022314
AA Change: N38I

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022314
Gene: ENSMUSG00000021789
AA Change: N38I

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 42 83 N/A INTRINSIC
CLECT 126 247 3.61e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170719
AA Change: N38I

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000129696
Gene: ENSMUSG00000021789
AA Change: N38I

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Collagen 20 66 1.6e-7 PFAM
Pfam:Collagen 65 102 1.9e-7 PFAM
CLECT 126 247 3.61e-17 SMART
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 a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired lung response to hyperventilation, reduced resistance to pulmonary infections, and enhanced pulmonary inflammatory response to lipopolysaccharide. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 T C 7: 144,190,882 (GRCm39) I401V possibly damaging Het
Ap2a2 A T 7: 141,184,932 (GRCm39) probably benign Het
Apol7c T A 15: 77,410,637 (GRCm39) D103V probably damaging Het
Arid4a T C 12: 71,119,507 (GRCm39) probably null Het
Atp2a1 A G 7: 126,049,479 (GRCm39) V521A probably benign Het
Ccdc88c G T 12: 100,883,062 (GRCm39) D1603E probably benign Het
Clec4f T C 6: 83,630,182 (GRCm39) I125M probably benign Het
Dsc1 T C 18: 20,227,679 (GRCm39) I520V probably benign Het
Eomes G A 9: 118,311,334 (GRCm39) A386T probably damaging Het
Gldc C T 19: 30,135,913 (GRCm39) probably null Het
Hectd4 G T 5: 121,445,013 (GRCm39) M1420I probably benign Het
Hmcn1 A T 1: 150,508,303 (GRCm39) probably benign Het
Ighv6-3 G A 12: 114,355,335 (GRCm39) T118I possibly damaging Het
Krt82 A G 15: 101,453,958 (GRCm39) F250S probably damaging Het
Ltb A G 17: 35,413,576 (GRCm39) T27A probably benign Het
Mex3b T A 7: 82,518,911 (GRCm39) S409T probably benign Het
Mki67 A T 7: 135,315,745 (GRCm39) I39N probably damaging Het
Or51a7 A G 7: 102,615,235 (GRCm39) probably benign Het
Palmd A G 3: 116,717,922 (GRCm39) S192P probably damaging Het
Pcdh20 A T 14: 88,704,636 (GRCm39) M888K probably benign Het
Pclo A T 5: 14,731,083 (GRCm39) H3195L unknown Het
Pgm2 A T 5: 64,260,225 (GRCm39) I137F possibly damaging Het
Polq T A 16: 36,837,671 (GRCm39) N194K probably damaging Het
Rmnd1 T C 10: 4,360,793 (GRCm39) probably null Het
Rnf114 T C 2: 167,354,459 (GRCm39) M180T probably damaging Het
Sap30 A G 8: 57,938,123 (GRCm39) F165L possibly damaging Het
Scgb3a2 T A 18: 43,900,059 (GRCm39) probably benign Het
Sumf1 A G 6: 108,152,977 (GRCm39) F137S probably damaging Het
Tln2 C A 9: 67,219,093 (GRCm39) R284L probably damaging Het
Ttn C T 2: 76,570,703 (GRCm39) R26730Q probably damaging Het
Ttn T A 2: 76,540,808 (GRCm39) R25732S probably damaging Het
Tubgcp4 T C 2: 121,004,082 (GRCm39) V41A probably benign Het
Usp53 T A 3: 122,751,367 (GRCm39) Q230L probably damaging Het
Vmn2r57 T C 7: 41,074,467 (GRCm39) E532G probably damaging Het
Vps9d1 G T 8: 123,972,769 (GRCm39) N454K probably damaging Het
Wdr55 T C 18: 36,895,132 (GRCm39) probably null Het
Zfp263 T A 16: 3,566,776 (GRCm39) C76S probably benign Het
Other mutations in Sftpa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1072:Sftpa1 UTSW 14 40,855,592 (GRCm39) splice site probably null
R1836:Sftpa1 UTSW 14 40,854,803 (GRCm39) missense possibly damaging 0.82
R2183:Sftpa1 UTSW 14 40,854,823 (GRCm39) missense probably damaging 1.00
R4941:Sftpa1 UTSW 14 40,854,509 (GRCm39) missense probably damaging 0.99
R5152:Sftpa1 UTSW 14 40,856,309 (GRCm39) missense probably damaging 1.00
R6119:Sftpa1 UTSW 14 40,854,509 (GRCm39) missense probably damaging 0.99
R7662:Sftpa1 UTSW 14 40,856,169 (GRCm39) missense probably damaging 1.00
R8737:Sftpa1 UTSW 14 40,856,044 (GRCm39) missense probably damaging 0.98
R9368:Sftpa1 UTSW 14 40,854,417 (GRCm39) start codon destroyed probably null 0.97
Posted On 2013-06-21