Incidental Mutation 'IGL02555:Scaf4'
ID298471
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scaf4
Ensembl Gene ENSMUSG00000022983
Gene NameSR-related CTD-associated factor 4
SynonymsSfrs15, Sra4, Srsf15
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.486) question?
Stock #IGL02555
Quality Score
Status
Chromosome16
Chromosomal Location90225680-90284503 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 90250305 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 395 (A395T)
Ref Sequence ENSEMBL: ENSMUSP00000156174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039280] [ENSMUST00000163419] [ENSMUST00000232371]
Predicted Effect unknown
Transcript: ENSMUST00000039280
AA Change: A395T
SMART Domains Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983
AA Change: A395T

DomainStartEndE-ValueType
RPR 6 136 7.8e-48 SMART
low complexity region 190 214 N/A INTRINSIC
low complexity region 272 313 N/A INTRINSIC
low complexity region 360 389 N/A INTRINSIC
low complexity region 390 418 N/A INTRINSIC
low complexity region 420 448 N/A INTRINSIC
low complexity region 496 558 N/A INTRINSIC
RRM 574 643 7.47e-14 SMART
low complexity region 719 757 N/A INTRINSIC
low complexity region 762 829 N/A INTRINSIC
low complexity region 871 886 N/A INTRINSIC
low complexity region 937 980 N/A INTRINSIC
low complexity region 983 997 N/A INTRINSIC
low complexity region 1006 1046 N/A INTRINSIC
low complexity region 1082 1096 N/A INTRINSIC
low complexity region 1111 1145 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000163419
AA Change: A395T
SMART Domains Protein: ENSMUSP00000132250
Gene: ENSMUSG00000022983
AA Change: A395T

DomainStartEndE-ValueType
RPR 6 136 7.8e-48 SMART
low complexity region 190 214 N/A INTRINSIC
low complexity region 272 313 N/A INTRINSIC
low complexity region 360 389 N/A INTRINSIC
low complexity region 390 418 N/A INTRINSIC
low complexity region 420 448 N/A INTRINSIC
low complexity region 496 554 N/A INTRINSIC
RRM 570 639 7.47e-14 SMART
low complexity region 715 753 N/A INTRINSIC
low complexity region 758 825 N/A INTRINSIC
low complexity region 845 860 N/A INTRINSIC
low complexity region 911 954 N/A INTRINSIC
low complexity region 957 971 N/A INTRINSIC
low complexity region 980 1020 N/A INTRINSIC
low complexity region 1056 1070 N/A INTRINSIC
low complexity region 1085 1119 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231594
Predicted Effect unknown
Transcript: ENSMUST00000232371
AA Change: A395T
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010109I03Rik G T 15: 74,881,608 probably benign Het
Actr1b G A 1: 36,701,747 R199C probably damaging Het
Adam9 T C 8: 24,966,736 N661D probably damaging Het
Amy1 C T 3: 113,564,892 E164K probably benign Het
Arid5b A C 10: 68,101,904 D221E probably benign Het
B3galt1 G T 2: 68,118,561 V207F probably benign Het
Begain A G 12: 109,034,189 S219P probably damaging Het
Clip1 A G 5: 123,621,794 probably null Het
Cps1 A G 1: 67,214,021 K1224R probably benign Het
Dnm1 A G 2: 32,328,038 Y449H probably damaging Het
Epas1 A T 17: 86,829,064 M755L probably benign Het
F13b T C 1: 139,517,186 C525R probably damaging Het
Fmnl2 A G 2: 53,126,851 probably null Het
Gm5346 A T 8: 43,625,268 C640S probably damaging Het
Ighv5-15 A G 12: 113,827,115 F3L probably benign Het
Inpp4a A G 1: 37,379,968 Q538R possibly damaging Het
Insrr A T 3: 87,813,817 M1092L probably damaging Het
Itgb8 C T 12: 119,189,881 V300M probably damaging Het
Kcnk5 A T 14: 20,141,985 H369Q probably benign Het
Olfr1023 G A 2: 85,887,398 M199I probably benign Het
Olfr1249 G A 2: 89,630,203 R232C probably damaging Het
Olfr1294 A G 2: 111,537,917 V124A probably damaging Het
Olfr24 T A 9: 18,755,473 H54L probably benign Het
Plxdc2 A G 2: 16,729,341 I417M probably benign Het
Polr1a G A 6: 71,920,457 E186K probably damaging Het
Ppp3cb A T 14: 20,530,953 F134L probably damaging Het
Prox2 C T 12: 85,095,260 W56* probably null Het
Sh3tc2 G T 18: 61,990,237 A690S probably damaging Het
Slc34a1 T C 13: 55,401,168 S144P possibly damaging Het
Slc6a6 C T 6: 91,748,330 probably benign Het
Tubgcp3 A T 8: 12,639,595 M557K probably benign Het
Vmn2r103 A T 17: 19,811,611 D549V probably damaging Het
Washc2 T A 6: 116,209,100 N90K probably damaging Het
Other mutations in Scaf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Scaf4 APN 16 90247281 missense unknown
IGL00536:Scaf4 APN 16 90257362 missense unknown
IGL01122:Scaf4 APN 16 90248630 missense unknown
IGL02015:Scaf4 APN 16 90258846 missense unknown
IGL02074:Scaf4 APN 16 90242920 missense unknown
IGL02735:Scaf4 APN 16 90245515 missense unknown
FR4304:Scaf4 UTSW 16 90229854 small deletion probably benign
FR4589:Scaf4 UTSW 16 90229854 small deletion probably benign
R0217:Scaf4 UTSW 16 90242682 missense probably damaging 0.99
R0410:Scaf4 UTSW 16 90260170 missense unknown
R0681:Scaf4 UTSW 16 90249694 missense unknown
R1099:Scaf4 UTSW 16 90263098 missense unknown
R1510:Scaf4 UTSW 16 90245394 missense unknown
R1694:Scaf4 UTSW 16 90229857 small deletion probably benign
R2077:Scaf4 UTSW 16 90252435 missense unknown
R2087:Scaf4 UTSW 16 90252425 missense unknown
R2182:Scaf4 UTSW 16 90230140 missense probably benign 0.15
R2698:Scaf4 UTSW 16 90244356 missense unknown
R2925:Scaf4 UTSW 16 90250289 missense unknown
R3025:Scaf4 UTSW 16 90251938 missense unknown
R3236:Scaf4 UTSW 16 90260217 missense unknown
R4207:Scaf4 UTSW 16 90260215 missense unknown
R4584:Scaf4 UTSW 16 90229515 unclassified probably benign
R4735:Scaf4 UTSW 16 90252432 missense unknown
R4835:Scaf4 UTSW 16 90250307 missense unknown
R4969:Scaf4 UTSW 16 90251943 nonsense probably null
R5174:Scaf4 UTSW 16 90247174 missense unknown
R5568:Scaf4 UTSW 16 90229857 small deletion probably benign
R5615:Scaf4 UTSW 16 90251960 missense unknown
R5638:Scaf4 UTSW 16 90244310 missense unknown
R6364:Scaf4 UTSW 16 90260248 nonsense probably null
R6470:Scaf4 UTSW 16 90229638 nonsense probably null
X0013:Scaf4 UTSW 16 90252291 missense unknown
Posted On2015-04-16