Incidental Mutation 'R6577:Srsf12'
ID 523534
Institutional Source Beutler Lab
Gene Symbol Srsf12
Ensembl Gene ENSMUSG00000054679
Gene Name serine and arginine-rich splicing factor 12
Synonyms Sfrs13b, Srrp
MMRRC Submission 044701-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R6577 (G1)
Quality Score 106.008
Status Validated
Chromosome 4
Chromosomal Location 33208991-33233340 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 33209196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067864] [ENSMUST00000108159]
AlphaFold Q8C8K3
Predicted Effect unknown
Transcript: ENSMUST00000067864
AA Change: S39P
SMART Domains Protein: ENSMUSP00000067939
Gene: ENSMUSG00000054679
AA Change: S39P

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 benign
Transcript: ENSMUST00000108159
SMART Domains Protein: ENSMUSP00000103794
Gene: ENSMUSG00000054679

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 93.1%
Validation Efficiency 97% (38/39)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Api5 T C 2: 94,252,726 (GRCm39) Y348C probably benign Het
Ark2n T C 18: 77,740,855 (GRCm39) T285A probably benign Het
Arl14 A G 3: 69,130,405 (GRCm39) E184G probably benign Het
Asap3 T C 4: 135,965,541 (GRCm39) probably null Het
Atp11b T A 3: 35,893,311 (GRCm39) V36E probably damaging Het
Atp13a4 C T 16: 29,298,659 (GRCm39) S100N probably benign Het
Cd27 T C 6: 125,213,756 (GRCm39) T34A probably benign Het
Clec10a T C 11: 70,061,436 (GRCm39) S274P probably benign Het
Cntnap2 C T 6: 46,147,206 (GRCm39) T484I probably benign Het
Cpsf1 CCCCTGCATGAGGCAGGTCCC CCCC 15: 76,481,655 (GRCm39) probably null Het
Cracd A T 5: 77,013,947 (GRCm39) probably benign Het
Def8 T C 8: 124,183,449 (GRCm39) S304P probably benign Het
Dgkd G A 1: 87,867,962 (GRCm39) V299M probably damaging Het
Ephb2 T C 4: 136,384,861 (GRCm39) D850G probably damaging Het
Gjd3 T C 11: 102,691,130 (GRCm39) N291S possibly damaging Het
Hc T C 2: 34,922,138 (GRCm39) I563V probably benign Het
Hells C T 19: 38,919,909 (GRCm39) Q20* probably null Het
Hid1 G C 11: 115,245,462 (GRCm39) P448A possibly damaging Het
Igkv8-24 C T 6: 70,193,947 (GRCm39) R87H possibly damaging Het
Irf6 A G 1: 192,851,662 (GRCm39) S418G probably damaging Het
Kcnv2 T A 19: 27,301,420 (GRCm39) C424S possibly damaging Het
Lmln T A 16: 32,927,370 (GRCm39) probably null Het
Myo1a A T 10: 127,551,189 (GRCm39) I678F possibly damaging Het
Nup98 A C 7: 101,778,053 (GRCm39) probably null Het
Papolg GGACTTGGGATACTTACGCTTTG GG 11: 23,829,857 (GRCm39) probably benign Het
Ppfibp1 T A 6: 146,901,153 (GRCm39) probably null Het
Sardh T C 2: 27,108,867 (GRCm39) T623A possibly damaging Het
Scml4 A G 10: 42,823,107 (GRCm39) N251D probably damaging Het
Skap1 T C 11: 96,416,870 (GRCm39) Y52H probably damaging Het
Srp68 G A 11: 116,156,290 (GRCm39) R113W probably damaging Het
Stat5b A G 11: 100,688,526 (GRCm39) M312T probably benign Het
Tma7 T C 9: 108,911,262 (GRCm39) probably benign Het
Tmem120b T G 5: 123,254,710 (GRCm39) F304V probably damaging Het
Tns3 G A 11: 8,499,057 (GRCm39) L9F probably damaging Het
Tns3 G T 11: 8,499,058 (GRCm39) D8E probably damaging Het
Tsc2 C T 17: 24,829,473 (GRCm39) A765T probably damaging Het
Tut7 C T 13: 59,955,975 (GRCm39) C45Y probably damaging Het
Uba1y A G Y: 825,465 (GRCm39) I276V probably benign Homo
Upb1 T G 10: 75,248,723 (GRCm39) L81R probably damaging Het
Uros C A 7: 133,302,569 (GRCm39) C73F probably damaging Het
Zfp820 T C 17: 22,038,384 (GRCm39) I315V 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
R4946:Srsf12 UTSW 4 33,231,174 (GRCm39) missense probably damaging 0.98
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
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'- CTAAGCTTGCATGCCCACAAG -3'
(R):5'- AATGGCACCCCAACAGCTTG -3'

Sequencing Primer
(F):5'- ACAAGTGGCTCCCTGACC -3'
(R):5'- CGGCATCGTCATCCAGAC -3'
Posted On 2018-06-22