Incidental Mutation 'IGL02283:Sftpd'
ID289914
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sftpd
Ensembl Gene ENSMUSG00000021795
Gene Namesurfactant associated protein D
SynonymsSP-D, Sftp4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.147) question?
Stock #IGL02283
Quality Score
Status
Chromosome14
Chromosomal Location41172214-41185149 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 41172466 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 332 (V332D)
Ref Sequence ENSEMBL: ENSMUSP00000076383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077136]
Predicted Effect probably benign
Transcript: ENSMUST00000077136
AA Change: V332D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000076383
Gene: ENSMUSG00000021795
AA Change: V332D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225892
Coding Region Coverage
Validation Efficiency
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 T C 10: 83,495,895 Y682C probably benign Het
Ank1 G A 8: 23,119,434 probably null Het
Arhgap1 A G 2: 91,670,776 N399S probably damaging Het
Atp8a2 A T 14: 60,016,799 I511N possibly damaging Het
Birc6 T A 17: 74,599,940 C1428S probably benign Het
Col18a1 T C 10: 77,113,109 T190A possibly damaging Het
Cpd A T 11: 76,840,425 D318E probably benign Het
Dync2h1 A T 9: 7,125,912 V1898E probably damaging Het
Gon4l T C 3: 88,895,364 M1095T probably damaging Het
Gypa G A 8: 80,494,092 probably benign Het
Irf9 G A 14: 55,607,739 R352H probably damaging Het
Macf1 T C 4: 123,471,375 T1633A probably benign Het
Mars2 T C 1: 55,238,774 V512A probably damaging Het
Myo9a A G 9: 59,871,673 N1571D probably benign Het
Myrfl T C 10: 116,777,360 D846G probably benign Het
Olfr10 A G 11: 49,318,335 D263G probably benign Het
Olfr1423 A G 19: 12,035,855 S296P possibly damaging Het
Olfr319 A T 11: 58,702,276 T192S probably damaging Het
Olfr57 T C 10: 79,035,545 S250P probably damaging Het
Rprd2 A T 3: 95,765,503 S863T probably damaging Het
Sdf4 T A 4: 156,008,836 N208K probably benign Het
Sh2b3 T C 5: 121,818,655 D321G probably benign Het
Slc45a2 T A 15: 11,001,182 N122K probably damaging Het
Slk T A 19: 47,641,993 F1170Y probably damaging Het
Spata7 A C 12: 98,658,258 T140P probably damaging Het
Vmn2r117 A G 17: 23,475,382 L497S probably damaging Het
Other mutations in Sftpd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01640:Sftpd APN 14 41172635 missense probably benign 0.32
IGL02252:Sftpd APN 14 41172514 missense probably damaging 1.00
R1474:Sftpd UTSW 14 41172427 missense probably damaging 0.99
R2302:Sftpd UTSW 14 41172442 missense probably damaging 1.00
R4282:Sftpd UTSW 14 41172580 missense probably benign 0.03
R6945:Sftpd UTSW 14 41174492 missense possibly damaging 0.88
R8069:Sftpd UTSW 14 41172581 missense probably benign
R8463:Sftpd UTSW 14 41175626 critical splice donor site probably null
R8963:Sftpd UTSW 14 41183044 missense probably benign
Posted On2015-04-16