Incidental Mutation 'R2183:Sftpa1'
ID 237309
Institutional Source Beutler Lab
Gene Symbol Sftpa1
Ensembl Gene ENSMUSG00000021789
Gene Name surfactant associated protein A1
Synonyms SP-A, SFTPA1, surfactant pulmonary associated protein A1, Sftp1, Sftp-1
MMRRC Submission 040185-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R2183 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 40853745-40858330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 40854823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 73 (D73Y)
Ref Sequence ENSEMBL: ENSMUSP00000129696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022314] [ENSMUST00000170719]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000022314
AA Change: D73Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022314
Gene: ENSMUSG00000021789
AA Change: D73Y

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 damaging
Transcript: ENSMUST00000170719
AA Change: D73Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129696
Gene: ENSMUSG00000021789
AA Change: D73Y

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf7 T C 15: 102,454,908 (GRCm39) T287A possibly damaging Het
Atg9b C T 5: 24,595,491 (GRCm39) A263T probably benign Het
Cc2d1a A T 8: 84,867,028 (GRCm39) H371Q probably damaging Het
Ccdc39 T C 3: 33,875,581 (GRCm39) N537S possibly damaging Het
Cdc6 A T 11: 98,799,524 (GRCm39) K17* probably null Het
Cemip2 G A 19: 21,801,157 (GRCm39) R758Q possibly damaging Het
Cenpk T C 13: 104,370,671 (GRCm39) M64T probably damaging Het
Dhx57 T A 17: 80,582,760 (GRCm39) T282S probably benign Het
Frem1 G A 4: 82,909,732 (GRCm39) T757I probably benign Het
Gcsh A T 8: 117,715,885 (GRCm39) V66E probably damaging Het
Gdpd1 T C 11: 86,926,102 (GRCm39) N281S probably damaging Het
Hs1bp3 T C 12: 8,371,610 (GRCm39) V97A possibly damaging Het
Ipo11 T C 13: 107,061,595 (GRCm39) T22A probably benign Het
Irag1 A T 7: 110,498,189 (GRCm39) L402Q probably damaging Het
Lama1 A G 17: 68,098,004 (GRCm39) N1795D probably damaging Het
Larp4 T C 15: 99,909,778 (GRCm39) V627A probably benign Het
Lrp8 T C 4: 107,660,462 (GRCm39) C41R probably damaging Het
Mroh2b T A 15: 4,947,707 (GRCm39) probably null Het
Nebl T C 2: 17,409,027 (GRCm39) D357G probably damaging Het
Nrg2 T C 18: 36,329,804 (GRCm39) K137R probably benign Het
Or14c43 T A 7: 86,115,594 (GRCm39) V325E probably benign Het
Or1j14 C T 2: 36,417,723 (GRCm39) Q100* probably null Het
Or5t7 A T 2: 86,507,380 (GRCm39) M99K probably benign Het
Phc1 C A 6: 122,300,284 (GRCm39) V487L probably damaging Het
Piezo2 A G 18: 63,239,345 (GRCm39) V745A probably damaging Het
Proca1 A T 11: 78,094,975 (GRCm39) H83L possibly damaging Het
Prpf4 G A 4: 62,330,046 (GRCm39) V107I probably damaging Het
Ptprz1 G A 6: 23,002,284 (GRCm39) R1458Q probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rbsn C A 6: 92,166,618 (GRCm39) L675F probably benign Het
Recql5 T C 11: 115,787,613 (GRCm39) S514G probably benign Het
Scai G A 2: 38,970,138 (GRCm39) T542I probably benign Het
Sgms2 A C 3: 131,129,934 (GRCm39) probably null Het
Spart A G 3: 55,024,554 (GRCm39) I50V probably benign Het
Spata7 A T 12: 98,603,871 (GRCm39) K47N probably damaging Het
Tbx18 T A 9: 87,587,789 (GRCm39) T443S probably damaging Het
Tmem130 T C 5: 144,692,242 (GRCm39) D54G possibly damaging Het
Tnip2 TCTCCT TCT 5: 34,656,957 (GRCm39) probably benign Het
Trp53rkb G T 2: 166,635,877 (GRCm39) V73L possibly damaging Het
Wwc2 A T 8: 48,295,961 (GRCm39) L1103H unknown Het
Yes1 T A 5: 32,802,370 (GRCm39) V95E probably damaging Het
Zfp971 T A 2: 177,675,533 (GRCm39) H377Q probably damaging Het
Zzef1 C T 11: 72,777,544 (GRCm39) R1792* probably null Het
Other mutations in Sftpa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Sftpa1 APN 14 40,854,527 (GRCm39) missense probably benign 0.10
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
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
Predicted Primers PCR Primer
(F):5'- GACCATCTGTCTAGCTGAAGGG -3'
(R):5'- CACGATGCTTGTCAATCTCTG -3'

Sequencing Primer
(F):5'- CATCTGTCTAGCTGAAGGGATTTTTC -3'
(R):5'- CGATGCTTGTCAATCTCTGAAATAAG -3'
Posted On 2014-10-02