Incidental Mutation 'IGL03197:Srsf12'
ID 412870
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03197
Quality Score
Status
Chromosome 4
Chromosomal Location 33208991-33233340 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33231040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 183 (G183E)
Ref Sequence ENSEMBL: ENSMUSP00000067939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067864] [ENSMUST00000108159]
AlphaFold Q8C8K3
Predicted Effect probably damaging
Transcript: ENSMUST00000067864
AA Change: G183E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000067939
Gene: ENSMUSG00000054679
AA Change: G183E

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
AA Change: G178E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000103794
Gene: ENSMUSG00000054679
AA Change: G178E

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 117,698,541 (GRCm39) W189R probably damaging Het
Abcb7 A T X: 103,327,797 (GRCm39) M704K possibly damaging Het
Anp32e A G 3: 95,844,364 (GRCm39) D71G probably damaging Het
Asphd1 T C 7: 126,545,298 (GRCm39) D353G probably damaging Het
Baz2b T C 2: 59,731,898 (GRCm39) K2047E possibly damaging Het
Cyp2c39 G T 19: 39,555,361 (GRCm39) V394F probably damaging Het
Ddx43 G A 9: 78,325,402 (GRCm39) M482I probably benign Het
Dnah2 A T 11: 69,350,089 (GRCm39) V2348E probably damaging Het
Fam135a A G 1: 24,083,263 (GRCm39) F304L probably damaging Het
Gabra3 A G X: 71,583,734 (GRCm39) I66T possibly damaging Het
Irf4 A T 13: 30,947,503 (GRCm39) probably benign Het
Kif11 A G 19: 37,395,475 (GRCm39) D578G probably benign Het
Lrig1 A G 6: 94,583,099 (GRCm39) S1006P probably benign Het
Mfsd14a A C 3: 116,430,012 (GRCm39) S307A probably benign Het
Mill1 A G 7: 17,998,590 (GRCm39) T267A probably benign Het
Nfyc C A 4: 120,630,958 (GRCm39) D62Y probably damaging Het
Nin T C 12: 70,073,584 (GRCm39) T1190A probably benign Het
Nup42 T C 5: 24,372,463 (GRCm39) S84P probably damaging Het
Ociad1 T C 5: 73,451,675 (GRCm39) S15P probably benign Het
Or4c104 A T 2: 88,586,545 (GRCm39) I158K probably damaging Het
Or6c69c A T 10: 129,910,548 (GRCm39) I90F probably damaging Het
Or7g25 A G 9: 19,160,098 (GRCm39) I199T probably benign Het
Pcdhb11 T A 18: 37,555,477 (GRCm39) L269* probably null Het
Pigo A C 4: 43,022,103 (GRCm39) M352R possibly damaging Het
Plch1 T C 3: 63,660,591 (GRCm39) M343V probably damaging Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Prkag1 A G 15: 98,713,058 (GRCm39) probably benign Het
Rasa4 A G 5: 136,130,866 (GRCm39) K379R probably damaging Het
Rraga G A 4: 86,494,513 (GRCm39) A120T probably damaging Het
Serpina3a C T 12: 104,082,500 (GRCm39) A91V probably damaging Het
Sik2 T C 9: 50,807,073 (GRCm39) E779G probably damaging Het
Slc15a3 T G 19: 10,832,443 (GRCm39) probably null Het
Smc1b C T 15: 84,955,064 (GRCm39) D1063N possibly damaging Het
Speer1e T G 5: 11,233,080 (GRCm39) N14K probably damaging Het
Speer1k T A 5: 11,000,501 (GRCm39) probably benign Het
Taf8 A G 17: 47,809,127 (GRCm39) S112P probably benign Het
Trhde A G 10: 114,249,213 (GRCm39) L851P probably benign Het
Wapl G T 14: 34,467,588 (GRCm39) V1182F possibly damaging Het
Zfp326 A G 5: 106,039,059 (GRCm39) I231V 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
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
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
Posted On 2016-08-02