Incidental Mutation 'R4946:Srsf12'
ID 383400
Institutional Source Beutler Lab
Gene Symbol Srsf12
Ensembl Gene ENSMUSG00000054679
Gene Name serine and arginine-rich splicing factor 12
Synonyms Sfrs13b, Srrp
MMRRC Submission 042543-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R4946 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 33208991-33233340 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 33231174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 223 (S223T)
Ref Sequence ENSEMBL: ENSMUSP00000103794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067864] [ENSMUST00000108159]
AlphaFold Q8C8K3
Predicted Effect probably benign
Transcript: ENSMUST00000067864
AA Change: S228T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000067939
Gene: ENSMUSG00000054679
AA Change: S228T

DomainStartEndE-ValueType
low complexity region 31 75 N/A INTRINSIC
low complexity region 79 96 N/A INTRINSIC
low complexity region 110 141 N/A INTRINSIC
low complexity region 145 166 N/A INTRINSIC
low complexity region 172 196 N/A INTRINSIC
internal_repeat_1 204 216 9.52e-5 PROSPERO
internal_repeat_1 232 244 9.52e-5 PROSPERO
low complexity region 248 262 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108159
AA Change: S223T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103794
Gene: ENSMUSG00000054679
AA Change: S223T

DomainStartEndE-ValueType
RRM 11 84 9.99e-24 SMART
low complexity region 105 136 N/A INTRINSIC
low complexity region 140 161 N/A INTRINSIC
low complexity region 167 191 N/A INTRINSIC
low complexity region 243 257 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,977,300 (GRCm39) D98G probably damaging Het
Adgre1 G A 17: 57,750,918 (GRCm39) V531I probably benign Het
Aldoart2 A G 12: 55,612,801 (GRCm39) Q242R probably benign Het
Ank2 A T 3: 126,735,589 (GRCm39) probably benign Het
Ank3 C T 10: 69,733,947 (GRCm39) A737V probably damaging Het
Ankle2 A G 5: 110,401,704 (GRCm39) I789V probably benign Het
Ankrd13c T C 3: 157,711,410 (GRCm39) V510A probably damaging Het
Arid1b T A 17: 5,393,118 (GRCm39) M2216K probably damaging Het
Arrdc1 A G 2: 24,815,860 (GRCm39) V380A probably benign Het
B3galt1 C A 2: 67,948,913 (GRCm39) N209K possibly damaging Het
Cd300c2 A T 11: 114,887,731 (GRCm39) C224S probably benign Het
Cdk4 T C 10: 126,900,759 (GRCm39) probably null Het
Cdk5rap1 T C 2: 154,210,794 (GRCm39) T115A possibly damaging Het
Clvs1 A T 4: 9,281,831 (GRCm39) R92* probably null Het
Cnga1 A G 5: 72,762,107 (GRCm39) V469A probably damaging Het
Ctns A G 11: 73,087,479 (GRCm39) F16L probably benign Het
Dlg5 A T 14: 24,204,429 (GRCm39) C1299S probably damaging Het
Dnah3 T A 7: 119,530,783 (GRCm39) Y3690F probably damaging Het
Dnah5 A G 15: 28,326,703 (GRCm39) M1971V probably damaging Het
Dnah5 G A 15: 28,388,050 (GRCm39) V3170M probably damaging Het
Dpp8 T C 9: 64,963,200 (GRCm39) Y485H probably benign Het
Dsc2 T C 18: 20,183,214 (GRCm39) D68G probably damaging Het
Eeig2 A G 3: 108,887,544 (GRCm39) V240A probably benign Het
Elavl1 A T 8: 4,351,752 (GRCm39) D121E probably benign Het
Ermap A G 4: 119,040,505 (GRCm39) V311A probably damaging Het
Fbxw11 C T 11: 32,689,226 (GRCm39) R437C probably damaging Het
Gas2l3 T C 10: 89,249,634 (GRCm39) M495V probably benign Het
Hacd1 C T 2: 14,049,948 (GRCm39) probably null Het
Itgav A G 2: 83,619,327 (GRCm39) R596G probably benign Het
Kars1 T C 8: 112,728,352 (GRCm39) H215R possibly damaging Het
Kif26a G A 12: 112,144,228 (GRCm39) R1494H probably damaging Het
Klf12 G A 14: 100,260,393 (GRCm39) S112L possibly damaging Het
Krt77 T C 15: 101,777,998 (GRCm39) Y19C unknown Het
Lrrc4c A G 2: 97,460,834 (GRCm39) T487A probably benign Het
Lrrn1 A G 6: 107,545,851 (GRCm39) M550V probably benign Het
Lsr C A 7: 30,657,634 (GRCm39) R442L probably benign Het
Lysmd2 A C 9: 75,542,728 (GRCm39) T112P probably damaging Het
Mctp2 A T 7: 71,909,017 (GRCm39) S99T probably benign Het
Mettl4 A G 17: 95,047,960 (GRCm39) V227A probably benign Het
Mill2 T A 7: 18,590,608 (GRCm39) probably null Het
Mpp3 T C 11: 101,895,848 (GRCm39) N476D probably benign Het
Mtmr6 C T 14: 60,517,638 (GRCm39) P83L possibly damaging Het
Myh3 T C 11: 66,984,364 (GRCm39) I1067T probably benign Het
Myh9 C A 15: 77,657,540 (GRCm39) Q1068H probably damaging Het
Narf T A 11: 121,141,179 (GRCm39) H304Q possibly damaging Het
Nfatc2ip G T 7: 125,995,784 (GRCm39) P35Q possibly damaging Het
Npas3 C A 12: 54,112,618 (GRCm39) P426Q probably damaging Het
Or10aa3 T G 1: 173,878,400 (GRCm39) S154A possibly damaging Het
Or4e1 G A 14: 52,700,740 (GRCm39) T242I probably damaging Het
Or4f4b T C 2: 111,314,311 (GRCm39) Y207H possibly damaging Het
Or51i1 T A 7: 103,671,219 (GRCm39) Q102L probably damaging Het
Or5p5 A G 7: 107,414,589 (GRCm39) H266R possibly damaging Het
Pcdh10 A T 3: 45,333,917 (GRCm39) E77V probably damaging Het
Pcnt C T 10: 76,192,019 (GRCm39) R2764Q probably damaging Het
Pgbd5 T C 8: 125,097,324 (GRCm39) D493G possibly damaging Het
Piezo2 G T 18: 63,290,333 (GRCm39) T142N probably benign Het
Plcb1 A G 2: 135,187,015 (GRCm39) I761V probably benign Het
Plekhg4 T G 8: 106,108,628 (GRCm39) D1196E probably null Het
Pparg A G 6: 115,427,989 (GRCm39) K159E probably damaging Het
Psmb1 A T 17: 15,718,478 (GRCm39) M16K probably benign Het
Ptprq T C 10: 107,361,595 (GRCm39) I2139V probably benign Het
Ralgapb T A 2: 158,282,887 (GRCm39) S239T probably damaging Het
Serpina11 A G 12: 103,950,923 (GRCm39) V266A probably damaging Het
Sf3a2 C G 10: 80,639,947 (GRCm39) probably benign Het
Smim18 T C 8: 34,232,587 (GRCm39) T11A possibly damaging Het
Snx6 G A 12: 54,817,528 (GRCm39) T7I probably damaging Het
Srcin1 T A 11: 97,442,768 (GRCm39) D75V probably damaging Het
Taf4b G T 18: 14,946,599 (GRCm39) C474F probably damaging Het
Tango6 T A 8: 107,444,722 (GRCm39) C542* probably null Het
Tbc1d24 A G 17: 24,427,510 (GRCm39) S151P possibly damaging Het
Tssk6 T C 8: 70,355,714 (GRCm39) S253P probably benign Het
Ttc39c G A 18: 12,857,999 (GRCm39) W300* probably null Het
Ttc6 T A 12: 57,689,926 (GRCm39) W539R probably benign Het
Ttn T C 2: 76,582,770 (GRCm39) T22708A probably damaging Het
Ttn C A 2: 76,749,053 (GRCm39) E3999* probably null Het
Vill T G 9: 118,897,508 (GRCm39) L261R probably damaging Het
Vmn1r20 T C 6: 57,409,159 (GRCm39) S162P probably damaging Het
Zfp516 T C 18: 82,974,219 (GRCm39) I139T probably benign Het
Other mutations in Srsf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Srsf12 APN 4 33,226,103 (GRCm39) missense possibly damaging 0.66
IGL02245:Srsf12 APN 4 33,209,103 (GRCm39) unclassified probably benign
IGL03197:Srsf12 APN 4 33,231,040 (GRCm39) missense probably damaging 1.00
IGL03412:Srsf12 APN 4 33,230,929 (GRCm39) missense probably damaging 0.99
R0173:Srsf12 UTSW 4 33,226,117 (GRCm39) missense probably damaging 1.00
R0704:Srsf12 UTSW 4 33,231,069 (GRCm39) missense probably damaging 0.99
R1618:Srsf12 UTSW 4 33,230,974 (GRCm39) missense probably damaging 0.99
R2130:Srsf12 UTSW 4 33,225,764 (GRCm39) critical splice acceptor site probably benign
R2916:Srsf12 UTSW 4 33,231,042 (GRCm39) nonsense probably null
R2989:Srsf12 UTSW 4 33,223,599 (GRCm39) missense probably damaging 1.00
R4350:Srsf12 UTSW 4 33,223,612 (GRCm39) missense possibly damaging 0.80
R5358:Srsf12 UTSW 4 33,209,330 (GRCm39) missense probably damaging 0.99
R5802:Srsf12 UTSW 4 33,230,929 (GRCm39) missense probably damaging 0.99
R6577:Srsf12 UTSW 4 33,209,196 (GRCm39) unclassified probably benign
R7055:Srsf12 UTSW 4 33,226,157 (GRCm39) missense probably damaging 1.00
R7392:Srsf12 UTSW 4 33,209,265 (GRCm39) missense unknown
R8365:Srsf12 UTSW 4 33,226,070 (GRCm39) missense probably damaging 0.99
R8366:Srsf12 UTSW 4 33,226,070 (GRCm39) missense probably damaging 0.99
R8388:Srsf12 UTSW 4 33,226,070 (GRCm39) missense probably damaging 0.99
R8389:Srsf12 UTSW 4 33,226,070 (GRCm39) missense probably damaging 0.99
R8391:Srsf12 UTSW 4 33,226,070 (GRCm39) missense probably damaging 0.99
R8696:Srsf12 UTSW 4 33,231,181 (GRCm39) missense possibly damaging 0.83
R8698:Srsf12 UTSW 4 33,231,246 (GRCm39) missense probably damaging 0.98
R8815:Srsf12 UTSW 4 33,226,045 (GRCm39) missense possibly damaging 0.83
R9653:Srsf12 UTSW 4 33,231,249 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- CGTTCCAAATCGCTACCCAG -3'
(R):5'- GAAGCACTTTAACCACAGCGAG -3'

Sequencing Primer
(F):5'- AGGCAGTCTACCTCCCTGAG -3'
(R):5'- CACTTTAACCACAGCGAGGTGTG -3'
Posted On 2016-04-27