Incidental Mutation 'R9346:Sftpd'
ID 707817
Institutional Source Beutler Lab
Gene Symbol Sftpd
Ensembl Gene ENSMUSG00000021795
Gene Name surfactant associated protein D
Synonyms Sfpd, SP-D, Sftp4
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R9346 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 40894171-40907106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 40896466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 239 (R239H)
Ref Sequence ENSEMBL: ENSMUSP00000076383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077136]
AlphaFold P50404
Predicted Effect probably benign
Transcript: ENSMUST00000077136
AA Change: R239H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000076383
Gene: ENSMUSG00000021795
AA Change: R239H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (45/45)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik G T 11: 58,179,095 (GRCm39) C143F Het
Adam8 T C 7: 139,567,634 (GRCm39) I370V probably benign Het
Adamts1 T A 16: 85,599,420 (GRCm39) D60V possibly damaging Het
Adh5 G A 3: 138,157,203 (GRCm39) V255I probably benign Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Arid2 T C 15: 96,185,792 (GRCm39) I37T probably benign Het
Arnt2 C T 7: 83,931,321 (GRCm39) R383Q probably benign Het
Arrb1 T A 7: 99,242,207 (GRCm39) Y238* probably null Het
Brdt T C 5: 107,524,880 (GRCm39) I807T probably damaging Het
Cacna1d T A 14: 29,818,880 (GRCm39) Q1247L possibly damaging Het
Carmil3 T C 14: 55,732,141 (GRCm39) Y213H probably damaging Het
Ccdc180 A T 4: 45,927,953 (GRCm39) T1163S probably benign Het
Cfl1 T A 19: 5,543,641 (GRCm39) L206Q probably benign Het
Chga A G 12: 102,525,548 (GRCm39) D63G probably damaging Het
Dennd1a T C 2: 37,911,447 (GRCm39) D180G probably benign Het
Dop1b T C 16: 93,577,702 (GRCm39) probably null Het
Fam171a2 C T 11: 102,328,771 (GRCm39) V663M possibly damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Gimap9 C A 6: 48,654,492 (GRCm39) N26K probably damaging Het
Gtf2i A G 5: 134,273,663 (GRCm39) F769L probably damaging Het
Gtf2i G T 5: 134,315,781 (GRCm39) H164N probably benign Het
Ino80 G A 2: 119,257,439 (GRCm39) T797I possibly damaging Het
Kcnma1 T C 14: 23,700,233 (GRCm39) S188G possibly damaging Het
Krt82 A G 15: 101,458,959 (GRCm39) M27T probably benign Het
Ncam2 A G 16: 81,252,204 (GRCm39) K216E probably benign Het
Nynrin A G 14: 56,100,495 (GRCm39) Q95R probably benign Het
Or1e1c T C 11: 73,266,129 (GRCm39) S188P probably benign Het
Or4c102 T A 2: 88,423,062 (GRCm39) S305T probably benign Het
Pon1 C A 6: 5,193,722 (GRCm39) V10L probably benign Het
Ptk2b T A 14: 66,415,541 (GRCm39) N252Y possibly damaging Het
Rad51 G A 2: 118,949,093 (GRCm39) C31Y probably benign Het
Sbf2 A G 7: 109,919,946 (GRCm39) F1525L probably benign Het
Sec11a T C 7: 80,557,760 (GRCm39) D173G unknown Het
Shq1 T A 6: 100,641,431 (GRCm39) Y150F probably damaging Het
Slc39a11 A G 11: 113,414,449 (GRCm39) V50A probably damaging Het
Snrnp25 A T 11: 32,155,622 (GRCm39) M1L probably benign Het
Tgm6 A T 2: 129,983,776 (GRCm39) K312* probably null Het
Tln1 C A 4: 43,546,895 (GRCm39) R827L probably damaging Het
Trim37 A T 11: 87,057,426 (GRCm39) probably null Het
Zdhhc13 T A 7: 48,472,328 (GRCm39) N495K probably benign Het
Zfp280b C T 10: 75,875,126 (GRCm39) T335I possibly damaging Het
Zfp583 T A 7: 6,328,542 (GRCm39) T16S probably benign Het
Zgpat C A 2: 181,021,844 (GRCm39) D423E probably benign Het
Other mutations in Sftpd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01640:Sftpd APN 14 40,894,592 (GRCm39) missense probably benign 0.32
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
Predicted Primers PCR Primer
(F):5'- CACACATGTATGTTGATAGATGCC -3'
(R):5'- AGCATTCATAGCAGGGACCTG -3'

Sequencing Primer
(F):5'- AGATGCCAACTGTGTTGTTCAAGC -3'
(R):5'- TGTGCCTACAGATGTAAAGTTTG -3'
Posted On 2022-04-18