Incidental Mutation 'R6484:Sat2'
ID 517263
Institutional Source Beutler Lab
Gene Symbol Sat2
Ensembl Gene ENSMUSG00000069835
Gene Name spermidine/spermine N1-acetyl transferase 2
Synonyms SSAT2, 2610016A03Rik, SSAT-2
MMRRC Submission 044616-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R6484 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 69512850-69514696 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69513353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 34 (V34A)
Ref Sequence ENSEMBL: ENSMUSP00000104296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005334] [ENSMUST00000092969] [ENSMUST00000108656]
AlphaFold Q6P8J2
Predicted Effect probably benign
Transcript: ENSMUST00000005334
SMART Domains Protein: ENSMUSP00000005334
Gene: ENSMUSG00000005202

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
LamG 68 203 2.59e-21 SMART
LamG 249 372 7.71e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000092969
AA Change: V34A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090647
Gene: ENSMUSG00000069835
AA Change: V34A

DomainStartEndE-ValueType
Pfam:Acetyltransf_10 13 144 1.4e-8 PFAM
Pfam:Acetyltransf_7 63 145 3e-11 PFAM
Pfam:Acetyltransf_1 66 146 2.2e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108656
AA Change: V34A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104296
Gene: ENSMUSG00000069835
AA Change: V34A

DomainStartEndE-ValueType
Pfam:Acetyltransf_7 53 144 3.2e-10 PFAM
Pfam:Acetyltransf_1 65 146 5e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151255
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.7%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abce1 A T 8: 80,416,952 (GRCm39) M353K probably damaging Het
Adgre4 G A 17: 56,109,036 (GRCm39) V348M possibly damaging Het
Alg8 T C 7: 97,032,135 (GRCm39) V228A probably benign Het
Bltp2 T C 11: 78,169,921 (GRCm39) V1548A probably damaging Het
Btbd8 T C 5: 107,651,451 (GRCm39) S115P probably benign Het
Car8 A G 4: 8,189,362 (GRCm39) F151L probably benign Het
CN725425 A G 15: 91,144,775 (GRCm39) Q546R probably benign Het
Col17a1 C T 19: 47,658,868 (GRCm39) V414M possibly damaging Het
Col6a3 C A 1: 90,719,645 (GRCm39) probably null Het
Cyp51 G A 5: 4,136,627 (GRCm39) T389M probably benign Het
Cyren G A 6: 34,851,551 (GRCm39) S101L probably damaging Het
Dazap1 A G 10: 80,113,481 (GRCm39) T126A probably benign Het
Dscc1 T A 15: 54,943,686 (GRCm39) K395* probably null Het
Dthd1 A G 5: 62,971,675 (GRCm39) N166S probably benign Het
Eefsec C G 6: 88,274,770 (GRCm39) W398S probably damaging Het
Enpep T A 3: 129,115,130 (GRCm39) H214L probably damaging Het
Esf1 T C 2: 140,000,458 (GRCm39) I443V probably benign Het
Espl1 T C 15: 102,231,935 (GRCm39) V1984A possibly damaging Het
Hip1 A G 5: 135,468,983 (GRCm39) S280P probably damaging Het
Il12rb1 C T 8: 71,262,348 (GRCm39) probably null Het
Itgax T A 7: 127,732,890 (GRCm39) C255S probably benign Het
Kifc5b T C 17: 27,143,746 (GRCm39) V506A probably damaging Het
Klf3 A G 5: 64,980,372 (GRCm39) E54G probably damaging Het
Lrig3 A G 10: 125,832,478 (GRCm39) probably null Het
Mctp1 A G 13: 76,836,744 (GRCm39) I104V probably benign Het
Mdga2 T C 12: 66,676,843 (GRCm39) E552G possibly damaging Het
Mpc1 A G 17: 8,515,788 (GRCm39) E160G possibly damaging Het
Myh10 T A 11: 68,590,293 (GRCm39) I76N probably damaging Het
Myh7b A T 2: 155,470,563 (GRCm39) I1032F probably benign Het
Olfml2a G A 2: 38,849,780 (GRCm39) V499I probably damaging Het
Or2h1 T A 17: 37,404,158 (GRCm39) I203F probably benign Het
Or4f58 A T 2: 111,851,764 (GRCm39) L145* probably null Het
Or5b105 A G 19: 13,080,431 (GRCm39) V79A probably benign Het
P2ry12 A G 3: 59,124,754 (GRCm39) L307P probably damaging Het
Pappa C A 4: 65,232,896 (GRCm39) A1345D probably damaging Het
Phox2b A G 5: 67,255,044 (GRCm39) I135T possibly damaging Het
Poln C T 5: 34,286,857 (GRCm39) A104T probably benign Het
Prkce A G 17: 86,798,237 (GRCm39) D342G probably benign Het
Ptchd3 T A 11: 121,733,764 (GRCm39) F885I possibly damaging Het
Rcbtb2 A T 14: 73,414,490 (GRCm39) S434C probably damaging Het
Rfc1 A G 5: 65,451,020 (GRCm39) V356A probably benign Het
Rln1 A G 19: 29,311,902 (GRCm39) F32S probably benign Het
Ryr2 A G 13: 11,677,269 (GRCm39) L3194P possibly damaging Het
Scgb3a2 T C 18: 43,899,784 (GRCm39) I24T possibly damaging Het
Slc35e2 T G 4: 155,697,104 (GRCm39) V206G probably damaging Het
Slit3 A T 11: 35,552,125 (GRCm39) M890L probably benign Het
Sorl1 A G 9: 41,887,703 (GRCm39) L2042P probably damaging Het
Ssbp1 T A 6: 40,451,600 (GRCm39) V9E probably damaging Het
Tbc1d23 C T 16: 56,998,379 (GRCm39) V520M probably damaging Het
Thumpd2 T C 17: 81,361,617 (GRCm39) E203G probably benign Het
Tlr11 A G 14: 50,600,135 (GRCm39) D707G probably damaging Het
Tlr12 T A 4: 128,509,847 (GRCm39) D801V probably damaging Het
Tnrc6b T G 15: 80,763,525 (GRCm39) N342K possibly damaging Het
Vmn1r191 A C 13: 22,362,918 (GRCm39) F279V probably benign Het
Vmn2r13 A T 5: 109,304,540 (GRCm39) C630* probably null Het
Zbtb1 C T 12: 76,432,665 (GRCm39) T217I probably damaging Het
Zfp385b ATCTTCTTCTTCT ATCTTCTTCTTCTTCT 2: 77,549,992 (GRCm39) probably benign Het
Zzef1 C T 11: 72,786,097 (GRCm39) P2090S probably damaging Het
Other mutations in Sat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01612:Sat2 APN 11 69,513,789 (GRCm39) critical splice donor site probably null
IGL02391:Sat2 APN 11 69,513,575 (GRCm39) missense probably damaging 1.00
R5352:Sat2 UTSW 11 69,513,141 (GRCm39) missense probably damaging 0.99
R7385:Sat2 UTSW 11 69,513,763 (GRCm39) missense probably damaging 0.98
R9030:Sat2 UTSW 11 69,513,069 (GRCm39) utr 5 prime probably benign
R9471:Sat2 UTSW 11 69,513,725 (GRCm39) missense probably damaging 1.00
Z1176:Sat2 UTSW 11 69,513,556 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CGGGTAAAGACTGCGGTTTG -3'
(R):5'- GGTTCTCTCCAAAGCCATCTG -3'

Sequencing Primer
(F):5'- CTGCGGTTTGGAAAAACAGTGC -3'
(R):5'- TCGCAGAGCTATAAAGATTGGAG -3'
Posted On 2018-05-21