Incidental Mutation 'IGL00536:Scaf4'
ID 3948
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scaf4
Ensembl Gene ENSMUSG00000022983
Gene Name SR-related CTD-associated factor 4
Synonyms Sra4, Srsf15, Sfrs15
Accession Numbers
Essential gene? Possibly essential (E-score: 0.637) question?
Stock # IGL00536
Quality Score
Status
Chromosome 16
Chromosomal Location 90022568-90081391 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90054250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 213 (P213Q)
Ref Sequence ENSEMBL: ENSMUSP00000156174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039280] [ENSMUST00000163419] [ENSMUST00000232371]
AlphaFold Q7TSH6
Predicted Effect unknown
Transcript: ENSMUST00000039280
AA Change: P213Q
SMART Domains Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983
AA Change: P213Q

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: P213Q
SMART Domains Protein: ENSMUSP00000132250
Gene: ENSMUSG00000022983
AA Change: P213Q

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: ENSMUST00000231572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231776
Predicted Effect unknown
Transcript: ENSMUST00000232371
AA Change: P213Q
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik C T 5: 99,370,242 (GRCm39) C506Y probably damaging Het
Bahcc1 A G 11: 120,175,871 (GRCm39) E1899G probably damaging Het
Celsr3 C T 9: 108,706,391 (GRCm39) T958I probably benign Het
Dock11 T C X: 35,258,087 (GRCm39) V644A probably benign Het
Dyrk2 C A 10: 118,696,097 (GRCm39) R387L probably damaging Het
Fam234b A G 6: 135,202,202 (GRCm39) Y308C probably damaging Het
Ik A T 18: 36,889,921 (GRCm39) R517* probably null Het
Lipo4 T A 19: 33,493,086 (GRCm39) Y49F probably damaging Het
Pura G A 18: 36,420,943 (GRCm39) M243I probably benign Het
Rsph4a T C 10: 33,787,652 (GRCm39) probably benign Het
Slc39a12 A T 2: 14,400,879 (GRCm39) probably benign Het
Tex11 C T X: 100,076,165 (GRCm39) C156Y probably null Het
Vdac2 G A 14: 21,888,511 (GRCm39) G138S probably benign Het
Zan C T 5: 137,444,944 (GRCm39) V1772I unknown Het
Zscan2 C T 7: 80,525,164 (GRCm39) T295M probably damaging Het
Other mutations in Scaf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Scaf4 APN 16 90,044,169 (GRCm39) missense unknown
IGL01122:Scaf4 APN 16 90,045,518 (GRCm39) missense unknown
IGL02015:Scaf4 APN 16 90,055,734 (GRCm39) missense unknown
IGL02074:Scaf4 APN 16 90,039,808 (GRCm39) missense unknown
IGL02555:Scaf4 APN 16 90,047,193 (GRCm39) missense unknown
IGL02735:Scaf4 APN 16 90,042,403 (GRCm39) missense unknown
FR4304:Scaf4 UTSW 16 90,026,742 (GRCm39) small deletion probably benign
FR4589:Scaf4 UTSW 16 90,026,742 (GRCm39) small deletion probably benign
R0217:Scaf4 UTSW 16 90,039,570 (GRCm39) missense probably damaging 0.99
R0410:Scaf4 UTSW 16 90,057,058 (GRCm39) missense unknown
R0681:Scaf4 UTSW 16 90,046,582 (GRCm39) missense unknown
R1099:Scaf4 UTSW 16 90,059,986 (GRCm39) missense unknown
R1510:Scaf4 UTSW 16 90,042,282 (GRCm39) missense unknown
R1694:Scaf4 UTSW 16 90,026,745 (GRCm39) small deletion probably benign
R2077:Scaf4 UTSW 16 90,049,323 (GRCm39) missense unknown
R2087:Scaf4 UTSW 16 90,049,313 (GRCm39) missense unknown
R2182:Scaf4 UTSW 16 90,027,028 (GRCm39) missense probably benign 0.15
R2698:Scaf4 UTSW 16 90,041,244 (GRCm39) missense unknown
R2925:Scaf4 UTSW 16 90,047,177 (GRCm39) missense unknown
R3025:Scaf4 UTSW 16 90,048,826 (GRCm39) missense unknown
R3236:Scaf4 UTSW 16 90,057,105 (GRCm39) missense unknown
R4207:Scaf4 UTSW 16 90,057,103 (GRCm39) missense unknown
R4584:Scaf4 UTSW 16 90,026,403 (GRCm39) unclassified probably benign
R4735:Scaf4 UTSW 16 90,049,320 (GRCm39) missense unknown
R4835:Scaf4 UTSW 16 90,047,195 (GRCm39) missense unknown
R4969:Scaf4 UTSW 16 90,048,831 (GRCm39) nonsense probably null
R5174:Scaf4 UTSW 16 90,044,062 (GRCm39) missense unknown
R5568:Scaf4 UTSW 16 90,026,745 (GRCm39) small deletion probably benign
R5615:Scaf4 UTSW 16 90,048,848 (GRCm39) missense unknown
R5638:Scaf4 UTSW 16 90,041,198 (GRCm39) missense unknown
R6364:Scaf4 UTSW 16 90,057,136 (GRCm39) nonsense probably null
R6470:Scaf4 UTSW 16 90,026,526 (GRCm39) nonsense probably null
R7049:Scaf4 UTSW 16 90,057,075 (GRCm39) missense unknown
R7198:Scaf4 UTSW 16 90,049,318 (GRCm39) missense unknown
R7446:Scaf4 UTSW 16 90,055,658 (GRCm39) missense unknown
R7501:Scaf4 UTSW 16 90,026,964 (GRCm39) missense unknown
R7580:Scaf4 UTSW 16 90,026,740 (GRCm39) nonsense probably null
R7631:Scaf4 UTSW 16 90,026,445 (GRCm39) missense unknown
R8380:Scaf4 UTSW 16 90,057,133 (GRCm39) missense unknown
R8963:Scaf4 UTSW 16 90,026,745 (GRCm39) small deletion probably benign
R9149:Scaf4 UTSW 16 90,027,054 (GRCm39) missense probably damaging 0.99
R9468:Scaf4 UTSW 16 90,026,287 (GRCm39) missense unknown
R9696:Scaf4 UTSW 16 90,044,122 (GRCm39) missense unknown
R9798:Scaf4 UTSW 16 90,045,533 (GRCm39) missense unknown
X0013:Scaf4 UTSW 16 90,049,179 (GRCm39) missense unknown
Posted On 2012-04-20