Incidental Mutation 'R5989:Sfta2'
ID 481905
Institutional Source Beutler Lab
Gene Symbol Sfta2
Ensembl Gene ENSMUSG00000090509
Gene Name surfactant associated 2
Synonyms EG433102
MMRRC Submission 044169-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R5989 (G1)
Quality Score 103.008
Status Not validated
Chromosome 17
Chromosomal Location 35960600-35961461 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to T at 35960672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171166] [ENSMUST00000174521]
AlphaFold E9PXB6
Predicted Effect probably benign
Transcript: ENSMUST00000171166
SMART Domains Protein: ENSMUSP00000132839
Gene: ENSMUSG00000090509

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
Pfam:SFTA2 19 77 1.5e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173162
Predicted Effect probably benign
Transcript: ENSMUST00000174521
SMART Domains Protein: ENSMUSP00000134221
Gene: ENSMUSG00000090509

DomainStartEndE-ValueType
Pfam:SFTA2 80 117 9.2e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174534
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cartpt T A 13: 100,035,492 (GRCm39) I109F probably damaging Het
Csmd3 G A 15: 47,454,160 (GRCm39) P3562L possibly damaging Het
Cyp2c40 T C 19: 39,796,024 (GRCm39) D118G probably benign Het
Dmrt1 T A 19: 25,523,245 (GRCm39) S199T possibly damaging Het
Drgx A G 14: 32,330,145 (GRCm39) N116S probably benign Het
Ebf1 G T 11: 44,886,998 (GRCm39) C565F probably damaging Het
Ggnbp1 A G 17: 27,248,721 (GRCm39) R97G probably benign Het
Gm10271 A T 10: 116,808,497 (GRCm39) F6L probably damaging Het
Gm42417 A G 1: 36,571,273 (GRCm39) F183L probably damaging Het
Ipcef1 A T 10: 6,929,532 (GRCm39) Y69* probably null Het
Lcp1 A T 14: 75,436,827 (GRCm39) M58L probably benign Het
Mtif2 A G 11: 29,480,098 (GRCm39) T55A probably damaging Het
Nefm A G 14: 68,361,778 (GRCm39) V162A probably benign Het
Nmral1 G A 16: 4,536,902 (GRCm39) probably benign Het
Or5h23 A T 16: 58,906,697 (GRCm39) W50R probably benign Het
Panx2 T C 15: 88,944,455 (GRCm39) L60P probably damaging Het
Prkag3 T C 1: 74,780,433 (GRCm39) N411D probably benign Het
Ramacl G A 13: 67,056,050 (GRCm39) M14I probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rttn G A 18: 88,991,750 (GRCm39) D110N probably damaging Het
Slc17a3 A G 13: 24,026,411 (GRCm39) probably benign Het
Spem1 G A 11: 69,711,951 (GRCm39) P238S possibly damaging Het
Tmem200c G T 17: 69,144,431 (GRCm39) probably benign Het
Trpm2 A G 10: 77,795,734 (GRCm39) F131S probably damaging Het
Vps51 A G 19: 6,126,402 (GRCm39) S117P probably damaging Het
Zbtb21 G A 16: 97,752,699 (GRCm39) P556L probably damaging Het
Other mutations in Sfta2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01022:Sfta2 APN 17 35,961,336 (GRCm39) missense possibly damaging 0.93
R1077:Sfta2 UTSW 17 35,961,019 (GRCm39) intron probably benign
R4194:Sfta2 UTSW 17 35,939,057 (GRCm39) critical splice donor site probably null
R4578:Sfta2 UTSW 17 35,960,775 (GRCm39) intron probably benign
R4841:Sfta2 UTSW 17 35,960,773 (GRCm39) intron probably benign
R4842:Sfta2 UTSW 17 35,960,773 (GRCm39) intron probably benign
R7409:Sfta2 UTSW 17 35,925,410 (GRCm39) missense unknown
R8140:Sfta2 UTSW 17 35,912,666 (GRCm39) missense unknown
Predicted Primers
Posted On 2017-06-26