Incidental Mutation 'R8704:Stfa1'
ID 669208
Institutional Source Beutler Lab
Gene Symbol Stfa1
Ensembl Gene ENSMUSG00000071562
Gene Name stefin A1
Synonyms Stf1
MMRRC Submission 068558-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R8704 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 36097510-36105733 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36105536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 89 (D89V)
Ref Sequence ENSEMBL: ENSMUSP00000049068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042097] [ENSMUST00000232150]
AlphaFold P35175
Predicted Effect probably damaging
Transcript: ENSMUST00000042097
AA Change: D89V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049068
Gene: ENSMUSG00000071562
AA Change: D89V

DomainStartEndE-ValueType
CY 1 97 1.71e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000232150
AA Change: D58V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.5%
Validation Efficiency 98% (39/40)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 T C 11: 69,773,489 (GRCm39) Q628R possibly damaging Het
Agbl1 G T 7: 76,239,302 (GRCm39) probably benign Het
Brf2 A G 8: 27,618,499 (GRCm39) V35A possibly damaging Het
Chtf8 A C 8: 107,612,672 (GRCm39) M89R probably benign Het
Copa A G 1: 171,931,693 (GRCm39) I315V probably benign Het
Csmd2 G A 4: 128,091,147 (GRCm39) E229K Het
Etf1 T C 18: 35,039,139 (GRCm39) E376G probably damaging Het
Fat2 T A 11: 55,172,137 (GRCm39) I2859F probably damaging Het
Foxp1 C G 6: 98,993,507 (GRCm39) Q132H unknown Het
Gal3st3 T C 19: 5,352,663 (GRCm39) V30A probably benign Het
Gars1 C T 6: 55,040,215 (GRCm39) R381C probably damaging Het
Gjd3 C T 11: 98,873,445 (GRCm39) R133H probably damaging Het
Haspin T C 11: 73,028,828 (GRCm39) N87S probably benign Het
Hcrt A T 11: 100,652,752 (GRCm39) probably benign Het
Heatr6 T A 11: 83,668,104 (GRCm39) M866K probably benign Het
Igf1r T C 7: 67,819,802 (GRCm39) probably benign Het
Lgr5 A G 10: 115,288,610 (GRCm39) L678P probably benign Het
Lypd5 A G 7: 24,050,982 (GRCm39) H31R possibly damaging Het
Mib2 A G 4: 155,743,620 (GRCm39) M275T possibly damaging Het
Mmp19 G A 10: 128,634,703 (GRCm39) V440I probably benign Het
Nefm T C 14: 68,358,510 (GRCm39) E508G unknown Het
Nlrp4a A T 7: 26,156,563 (GRCm39) I763L probably benign Het
Or5p61 A T 7: 107,758,711 (GRCm39) V123D possibly damaging Het
Or9g4 T A 2: 85,504,562 (GRCm39) H311L Het
Pcdhb1 T A 18: 37,399,402 (GRCm39) V451D possibly damaging Het
Pfkfb2 T C 1: 130,625,780 (GRCm39) N467D probably benign Het
Ptprc G A 1: 138,043,362 (GRCm39) T63I probably benign Het
Rab9 C T X: 165,240,754 (GRCm39) D186N probably benign Het
Rhobtb2 G A 14: 70,031,373 (GRCm39) P584L probably damaging Het
Rhoc G C 3: 104,699,342 (GRCm39) A44P probably damaging Het
Sardh T C 2: 27,120,477 (GRCm39) E435G possibly damaging Het
Tec T C 5: 72,926,105 (GRCm39) K316E probably damaging Het
Tsen15 A T 1: 152,247,541 (GRCm39) Y150* probably null Het
Ugt1a5 T C 1: 88,094,087 (GRCm39) I105T probably benign Het
Usp25 A G 16: 76,856,178 (GRCm39) D257G probably benign Het
Vmn1r195 A G 13: 22,463,058 (GRCm39) Y176C possibly damaging Het
Wdr31 G A 4: 62,380,442 (GRCm39) A87V probably benign Het
Wwp2 A T 8: 108,212,228 (GRCm39) T177S probably benign Het
Zfp28 T C 7: 6,397,637 (GRCm39) C691R probably damaging Het
Other mutations in Stfa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1615:Stfa1 UTSW 16 36,100,829 (GRCm39) missense probably damaging 1.00
R7772:Stfa1 UTSW 16 36,097,363 (GRCm39) splice site probably null
R8785:Stfa1 UTSW 16 36,105,615 (GRCm39) nonsense probably null
R9264:Stfa1 UTSW 16 36,100,930 (GRCm39) missense unknown
X0027:Stfa1 UTSW 16 36,097,588 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- GAATTGCATGCATGTGATGTCC -3'
(R):5'- CTGAATCTCTTTCCACTGAGAGG -3'

Sequencing Primer
(F):5'- GTTAGCTGCACATTTTCCCAAAG -3'
(R):5'- AGGAATCAGATCACTTTAGAATTTGC -3'
Posted On 2021-04-30