Incidental Mutation 'R6119:Sftpa1'
ID 485682
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 044429-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R6119 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 40853745-40858330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40854509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 32 (I32N)
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: I32N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022314
Gene: ENSMUSG00000021789
AA Change: I32N

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: I32N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129696
Gene: ENSMUSG00000021789
AA Change: I32N

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
Meta Mutation Damage Score 0.1653 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,265,138 (GRCm39) R97* probably null Het
4930544D05Rik G A 11: 70,507,317 (GRCm39) A121T probably damaging Het
Abtb2 A T 2: 103,532,655 (GRCm39) E484D probably benign Het
Ankk1 A T 9: 49,338,183 (GRCm39) W37R possibly damaging Het
Arhgap11a C A 2: 113,664,695 (GRCm39) M529I probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
Ddx47 T C 6: 135,000,318 (GRCm39) I438T probably benign Het
Dnhd1 A G 7: 105,358,647 (GRCm39) T3379A probably benign Het
Dusp3 A G 11: 101,871,495 (GRCm39) probably benign Het
Dync1h1 A G 12: 110,594,440 (GRCm39) K1289E possibly damaging Het
Egf A T 3: 129,530,421 (GRCm39) I247N probably benign Het
Erich1 A G 8: 14,083,692 (GRCm39) L126P probably benign Het
Fat3 T A 9: 16,287,864 (GRCm39) H553L possibly damaging Het
Gdpgp1 T C 7: 79,888,740 (GRCm39) L257P probably damaging Het
Gimap8 T C 6: 48,635,888 (GRCm39) I551T possibly damaging Het
Gnptab C A 10: 88,267,257 (GRCm39) D449E probably damaging Het
Grb10 T C 11: 11,883,551 (GRCm39) D513G probably damaging Het
Grin1 T G 2: 25,195,170 (GRCm39) D283A probably damaging Het
Gtf2i A T 5: 134,315,911 (GRCm39) probably null Het
Ip6k3 A G 17: 27,367,599 (GRCm39) V199A possibly damaging Het
Kif17 T A 4: 138,015,643 (GRCm39) Y405* probably null Het
Lair1 T C 7: 4,031,895 (GRCm39) M71V probably benign Het
Mamdc2 G A 19: 23,330,679 (GRCm39) T376M probably damaging Het
Msra G A 14: 64,678,183 (GRCm39) R38C probably damaging Het
Mthfd1 A T 12: 76,350,447 (GRCm39) I462F probably damaging Het
Nbr1 A G 11: 101,457,938 (GRCm39) probably null Het
Neb A G 2: 52,110,943 (GRCm39) M181T probably benign Het
Noxo1 A G 17: 24,915,545 (GRCm39) probably benign Het
Optn C A 2: 5,026,134 (GRCm39) probably null Het
Or10ag58 A T 2: 87,265,733 (GRCm39) K301* probably null Het
Or4c103 A G 2: 88,513,935 (GRCm39) I47T probably damaging Het
Or5k17 A T 16: 58,746,895 (GRCm39) I13N possibly damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Pclo A G 5: 14,727,033 (GRCm39) probably benign Het
Ppp1r16b A G 2: 158,593,047 (GRCm39) I209V probably benign Het
Prss12 A G 3: 123,283,258 (GRCm39) I517V possibly damaging Het
Pwwp3a A G 10: 80,064,865 (GRCm39) K32E probably benign Het
Ripor2 C T 13: 24,798,627 (GRCm39) probably benign Het
Rmnd5b A G 11: 51,516,536 (GRCm39) S274P probably benign Het
Slc2a12 T A 10: 22,541,246 (GRCm39) I367N probably damaging Het
Sorcs1 T C 19: 50,276,532 (GRCm39) D340G probably damaging Het
Synj1 T C 16: 90,735,877 (GRCm39) K1359E probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcf12 T A 9: 71,775,547 (GRCm39) E421V probably damaging Het
Tecta A T 9: 42,284,371 (GRCm39) F905I probably benign Het
Tmem106a T A 11: 101,474,576 (GRCm39) C58* probably null Het
Tmem131l A T 3: 83,805,689 (GRCm39) F1585I probably damaging Het
Tnks2 T C 19: 36,856,752 (GRCm39) S208P possibly damaging Het
Trim50 A G 5: 135,382,274 (GRCm39) N42S probably benign Het
Tsc22d2 T A 3: 58,367,674 (GRCm39) probably benign Het
Ttll3 T A 6: 113,371,702 (GRCm39) L23H probably damaging Het
Vmn1r10 A G 6: 57,091,218 (GRCm39) Y270C probably benign Het
Ypel3 T C 7: 126,377,537 (GRCm39) V74A possibly damaging Het
Zfp677 A G 17: 21,618,070 (GRCm39) T376A possibly damaging 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
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
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'- TGTTCCTGGGTCCTGCAAAG -3'
(R):5'- AAGACACATGCTCTAGCCCG -3'

Sequencing Primer
(F):5'- CCTGGGTCCTGCAAAGTGTAG -3'
(R):5'- ATGCTCTAGCCCGAGGACTC -3'
Posted On 2017-08-16