Incidental Mutation 'R6945:Sftpd'
ID 540856
Institutional Source Beutler Lab
Gene Symbol Sftpd
Ensembl Gene ENSMUSG00000021795
Gene Name surfactant associated protein D
Synonyms Sfpd, SP-D, Sftp4
MMRRC Submission 045059-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R6945 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 40894171-40907106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40896449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 245 (S245P)
Ref Sequence ENSEMBL: ENSMUSP00000076383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077136]
AlphaFold P50404
Predicted Effect possibly damaging
Transcript: ENSMUST00000077136
AA Change: S245P

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076383
Gene: ENSMUSG00000021795
AA Change: S245P

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: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 96% (51/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T A 16: 20,218,759 (GRCm39) T208S probably benign Het
Acaa2 A G 18: 74,926,380 (GRCm39) E112G probably benign Het
Adgrb1 A G 15: 74,421,873 (GRCm39) N881S probably damaging Het
Adgre1 A G 17: 57,717,844 (GRCm39) E314G probably benign Het
Adgre1 A G 17: 57,727,399 (GRCm39) E443G probably benign Het
Akp3 A G 1: 87,053,353 (GRCm39) Y102C probably damaging Het
Birc6 A G 17: 74,886,526 (GRCm39) N618S probably benign Het
Bpifc A G 10: 85,815,078 (GRCm39) V296A probably benign Het
Cacna2d3 G A 14: 28,691,275 (GRCm39) probably benign Het
Cacnb4 T C 2: 52,364,966 (GRCm39) N99S probably damaging Het
Cd38 A G 5: 44,065,348 (GRCm39) Y283C probably damaging Het
Celf4 T A 18: 25,629,293 (GRCm39) Q411L probably damaging Het
Cemip A T 7: 83,647,755 (GRCm39) H108Q probably damaging Het
Col23a1 A G 11: 51,452,720 (GRCm39) E225G unknown Het
Dnah11 T C 12: 118,024,045 (GRCm39) E1902G probably damaging Het
Dst A G 1: 34,229,571 (GRCm39) D2063G probably damaging Het
Fsip2 A T 2: 82,823,184 (GRCm39) I6306L probably benign Het
Furin A G 7: 80,040,838 (GRCm39) S667P possibly damaging Het
Glmp T A 3: 88,233,139 (GRCm39) S92R probably benign Het
Gm11563 C G 11: 99,549,298 (GRCm39) C152S unknown Het
Gm3486 A G 14: 41,206,518 (GRCm39) V185A probably benign Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
Hyal1 C A 9: 107,456,369 (GRCm39) A102E probably damaging Het
Invs T C 4: 48,421,785 (GRCm39) C806R probably benign Het
L1td1 T C 4: 98,621,933 (GRCm39) V165A probably benign Het
Lama1 A G 17: 68,120,861 (GRCm39) T2666A Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrrc8a A G 2: 30,146,239 (GRCm39) Y351C probably damaging Het
Myh7b T C 2: 155,464,152 (GRCm39) F551S possibly damaging Het
Myo19 A G 11: 84,788,386 (GRCm39) T333A probably benign Het
Nrp2 A T 1: 62,799,947 (GRCm39) N387I probably damaging Het
Oas2 T C 5: 120,874,204 (GRCm39) D543G probably benign Het
Or2g25 A G 17: 37,970,405 (GRCm39) I273T possibly damaging Het
Or5al6 A G 2: 85,976,428 (GRCm39) S217P probably damaging Het
Pak5 A G 2: 135,942,859 (GRCm39) V427A probably benign Het
Pfas G A 11: 68,891,356 (GRCm39) A247V probably benign Het
Pramel52-ps C T 5: 94,531,490 (GRCm39) H125Y possibly damaging Het
Psat1 T A 19: 15,894,545 (GRCm39) T115S probably benign Het
Psme4 T A 11: 30,787,437 (GRCm39) D1077E probably benign Het
Rabgap1l A G 1: 160,509,752 (GRCm39) S442P probably benign Het
Ralgapa1 A G 12: 55,822,976 (GRCm39) M280T possibly damaging Het
Rb1cc1 A T 1: 6,331,256 (GRCm39) E394D probably damaging Het
Seh1l T C 18: 67,922,460 (GRCm39) V271A probably benign Het
Sf3b1 A T 1: 55,036,315 (GRCm39) N919K probably benign Het
Slc22a15 T C 3: 101,831,430 (GRCm39) E2G probably damaging Het
Spta1 A G 1: 174,036,891 (GRCm39) D1134G possibly damaging Het
Syna A G 5: 134,587,815 (GRCm39) V378A probably damaging Het
Tchp A G 5: 114,847,411 (GRCm39) K77E possibly damaging Het
Tescl T C 7: 24,032,956 (GRCm39) N123S probably benign Het
Trio C T 15: 27,824,176 (GRCm39) R1443Q probably damaging Het
Trrap A T 5: 144,727,665 (GRCm39) Y462F possibly damaging Het
Vmn1r78 A G 7: 11,886,832 (GRCm39) T148A probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zfp1007 A C 5: 109,824,711 (GRCm39) N246K 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
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
Predicted Primers PCR Primer
(F):5'- TGCCCACTCGTTTATCCAAAG -3'
(R):5'- GTTATGAGTAACAAGCTCCCCAC -3'

Sequencing Primer
(F):5'- TACATAGGAGGACCCAATCTTGATG -3'
(R):5'- TGAGTAACAAGCTCCCCACCTTAAC -3'
Posted On 2018-11-28