Incidental Mutation 'R1077:Sfta2'
ID 85704
Institutional Source Beutler Lab
Gene Symbol Sfta2
Ensembl Gene ENSMUSG00000090509
Gene Name surfactant associated 2
Synonyms EG433102
MMRRC Submission 039163-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R1077 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 35960600-35961461 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 35961019 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.6%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik T C 9: 114,130,770 (GRCm39) noncoding transcript Het
Apob A G 12: 8,056,017 (GRCm39) K1500E probably benign Het
Atp8b1 A T 18: 64,706,333 (GRCm39) Y225* probably null Het
Cdc25c A T 18: 34,882,026 (GRCm39) probably benign Het
Ceacam15 T C 7: 16,406,000 (GRCm39) N184D probably benign Het
Cntln T C 4: 84,914,716 (GRCm39) S508P probably damaging Het
Defa41 T A 8: 21,692,449 (GRCm39) F90Y probably benign Het
Dhx34 A G 7: 15,952,293 (GRCm39) S111P probably damaging Het
Dst A G 1: 34,203,248 (GRCm39) E759G probably damaging Het
Fis1 G A 5: 136,994,000 (GRCm39) A28T probably damaging Het
Fsd1 T C 17: 56,297,542 (GRCm39) probably null Het
Grk6 T C 13: 55,602,340 (GRCm39) probably null Het
Il23r A T 6: 67,450,794 (GRCm39) H228Q probably benign Het
Kcnh4 C T 11: 100,643,164 (GRCm39) V368I possibly damaging Het
Kdr T C 5: 76,116,891 (GRCm39) E728G probably damaging Het
Krt33a T A 11: 99,906,763 (GRCm39) M71L probably benign Het
Lrrc7 T G 3: 157,866,780 (GRCm39) D987A probably damaging Het
Naalad2 C T 9: 18,258,802 (GRCm39) R491Q probably damaging Het
Nedd4l A T 18: 65,300,570 (GRCm39) probably benign Het
Pramel7 A G 2: 87,321,534 (GRCm39) L167S probably damaging Het
Prkci A G 3: 31,104,341 (GRCm39) D568G probably damaging Het
Psg18 G A 7: 18,085,000 (GRCm39) T32I possibly damaging Het
Ric8b T A 10: 84,806,581 (GRCm39) probably benign Het
Rnf213 T C 11: 119,376,824 (GRCm39) probably benign Het
Rttn T C 18: 89,082,373 (GRCm39) V1433A probably damaging Het
Sbf2 A T 7: 109,966,379 (GRCm39) probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Slc17a1 T A 13: 24,062,433 (GRCm39) probably benign Het
Slc6a21 G A 7: 44,937,626 (GRCm39) C314Y probably benign Het
Smpd4 T C 16: 17,441,833 (GRCm39) V35A probably damaging Het
Sorl1 T C 9: 41,925,786 (GRCm39) D1182G probably damaging Het
Syne2 A G 12: 76,088,809 (GRCm39) I5056V possibly damaging Het
Tex14 T C 11: 87,410,571 (GRCm39) probably benign Het
Tex44 A G 1: 86,354,777 (GRCm39) T229A probably benign Het
Tfap2b T A 1: 19,304,373 (GRCm39) C394* probably null Het
Ttk T A 9: 83,726,202 (GRCm39) probably benign Het
Vmn2r26 G A 6: 124,030,872 (GRCm39) V536I probably benign Het
Wac A G 18: 7,921,916 (GRCm39) T553A probably damaging Het
Wdcp T A 12: 4,900,685 (GRCm39) H180Q probably damaging Het
Wdr33 A G 18: 31,968,514 (GRCm39) H235R probably benign Het
Other mutations in Sfta2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01022:Sfta2 APN 17 35,961,336 (GRCm39) missense possibly damaging 0.93
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
R5989:Sfta2 UTSW 17 35,960,672 (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 PCR Primer
(F):5'- GGAAAGCTAGATCCCTGGCATGAAC -3'
(R):5'- ATTGGTCCCTGATGGCAGATGGAG -3'

Sequencing Primer
(F):5'- CCTGGCATGAACAGGGG -3'
(R):5'- TCCGAGGATGAGGTCTAAGATG -3'
Posted On 2013-11-18