Incidental Mutation 'R2916:Srsf12'
ID 254874
Institutional Source Beutler Lab
Gene Symbol Srsf12
Ensembl Gene ENSMUSG00000054679
Gene Name serine and arginine-rich splicing factor 12
Synonyms Sfrs13b, Srrp
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R2916 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 33208991-33233340 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 33231042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 179 (R179*)
Ref Sequence ENSEMBL: ENSMUSP00000103794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067864] [ENSMUST00000108159]
AlphaFold Q8C8K3
Predicted Effect probably null
Transcript: ENSMUST00000067864
AA Change: R184*
SMART Domains Protein: ENSMUSP00000067939
Gene: ENSMUSG00000054679
AA Change: R184*

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 null
Transcript: ENSMUST00000108159
AA Change: R179*
SMART Domains Protein: ENSMUSP00000103794
Gene: ENSMUSG00000054679
AA Change: R179*

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: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa13 T C 15: 58,208,476 (GRCm39) noncoding transcript Het
Brd7 A G 8: 89,069,408 (GRCm39) I429T probably damaging Het
Btbd10 T C 7: 112,932,031 (GRCm39) M124V probably benign Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Ephb2 T C 4: 136,411,256 (GRCm39) D468G probably damaging Het
Fig4 A G 10: 41,134,071 (GRCm39) F404S probably damaging Het
Hcn3 A G 3: 89,054,920 (GRCm39) S776P probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Il17re G A 6: 113,442,989 (GRCm39) probably null Het
Mug2 A G 6: 122,051,683 (GRCm39) probably null Het
Nudt9 C A 5: 104,203,424 (GRCm39) A121E probably damaging Het
Or2aa1 T C 11: 59,480,265 (GRCm39) T217A probably benign Het
Pdcd11 AGAGGAGGAGGAGGAGGAGGAGGAG AGAGGAGGAGGAGGAGGAGGAG 19: 47,101,876 (GRCm39) probably benign Het
Pkdcc G C 17: 83,523,378 (GRCm39) A162P probably benign Het
Rassf4 A G 6: 116,618,701 (GRCm39) V194A probably damaging Het
Rps24 T C 14: 24,542,009 (GRCm39) V23A probably benign Het
Six3 A T 17: 85,929,061 (GRCm39) I132F probably benign Het
Zbtb14 C T 17: 69,695,214 (GRCm39) P304L probably damaging 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
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
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'- TATGTCCCATTCCAACCATAGC -3'
(R):5'- CAGAACTGGTGTACGCTCTG -3'

Sequencing Primer
(F):5'- TCAGGAAGAGCTGTCTTAACCTGC -3'
(R):5'- ACGCTCTGGGAGACTTGCATG -3'
Posted On 2014-12-29