Incidental Mutation 'R5615:Scaf4'
ID 438214
Institutional Source Beutler Lab
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 # R5615 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 90022568-90081391 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90048848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 322 (Q322R)
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: Q322R
SMART Domains Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983
AA Change: Q322R

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: Q322R
SMART Domains Protein: ENSMUSP00000132250
Gene: ENSMUSG00000022983
AA Change: Q322R

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: Q322R
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,346,218 (GRCm39) L884H probably damaging Het
Ahr A G 12: 35,553,884 (GRCm39) V745A probably benign Het
Ankrd17 A T 5: 90,431,295 (GRCm39) S830T possibly damaging Het
Aox1 A G 1: 58,136,125 (GRCm39) T1123A probably benign Het
Arhgef11 T C 3: 87,629,792 (GRCm39) probably null Het
Bcas3 T A 11: 85,361,587 (GRCm39) C250S probably damaging Het
Bckdk T C 7: 127,506,489 (GRCm39) I272T probably damaging Het
Cacna1e T C 1: 154,287,916 (GRCm39) K1897E probably damaging Het
Cd180 A T 13: 102,842,711 (GRCm39) I586F probably benign Het
Cep290 A G 10: 100,367,012 (GRCm39) D1121G probably damaging Het
Clasrp A G 7: 19,320,372 (GRCm39) probably benign Het
Col27a1 G T 4: 63,199,351 (GRCm39) K912N probably damaging Het
Dock4 G T 12: 40,699,479 (GRCm39) R231L probably benign Het
Ell G A 8: 71,043,382 (GRCm39) S505N probably benign Het
Ephb6 A G 6: 41,596,225 (GRCm39) T833A probably benign Het
Hemk1 T A 9: 107,208,023 (GRCm39) probably null Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hspa12a T C 19: 58,793,082 (GRCm39) I368V possibly damaging Het
Igkv3-3 A T 6: 70,664,214 (GRCm39) T19S probably benign Het
Itpr1 G A 6: 108,465,561 (GRCm39) A2158T possibly damaging Het
Lancl2 T C 6: 57,699,496 (GRCm39) Y104H probably damaging Het
Leng8 G T 7: 4,147,957 (GRCm39) E634* probably null Het
Lrrk1 A T 7: 65,937,363 (GRCm39) C930S probably damaging Het
Lvrn C T 18: 46,983,395 (GRCm39) S46L possibly damaging Het
Mcidas G A 13: 113,133,959 (GRCm39) V148I probably benign Het
Mprip A T 11: 59,649,313 (GRCm39) T1006S probably benign Het
Mrgprb3 T A 7: 48,293,234 (GRCm39) M106L probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mtor G A 4: 148,622,733 (GRCm39) V1938I possibly damaging Het
Muc2 A G 7: 141,277,446 (GRCm39) D46G probably damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or10ag52 T A 2: 87,044,083 (GRCm39) F282L probably benign Het
Or6c215 A T 10: 129,637,636 (GRCm39) C253S probably damaging Het
Osbp2 C T 11: 3,813,356 (GRCm39) G171D probably benign Het
Otud6b A T 4: 14,818,187 (GRCm39) M238K possibly damaging Het
Pcdhac2 G A 18: 37,279,476 (GRCm39) G819R probably benign Het
Pcdhac2 G T 18: 37,279,477 (GRCm39) G819V probably benign Het
Pcdhga12 T G 18: 37,901,132 (GRCm39) S655A probably damaging Het
Pkd1l3 A G 8: 110,356,842 (GRCm39) I756V probably benign Het
Plekhd1 T A 12: 80,767,364 (GRCm39) S251T probably damaging Het
Ppp2r1a A T 17: 21,179,249 (GRCm39) T96S probably benign Het
Qser1 A C 2: 104,620,039 (GRCm39) S258A possibly damaging Het
Rsph4a G A 10: 33,785,324 (GRCm39) A412T probably benign Het
Sanbr A T 11: 23,556,759 (GRCm39) L407H probably damaging Het
Sass6 T A 3: 116,401,135 (GRCm39) C159S probably benign Het
Sema6d C T 2: 124,498,821 (GRCm39) H244Y probably damaging Het
Sigirr T G 7: 140,672,632 (GRCm39) L163F probably damaging Het
Spata31d1c C A 13: 65,183,078 (GRCm39) L207I possibly damaging Het
Tacstd2 A G 6: 67,512,033 (GRCm39) F220L probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tnxb C A 17: 34,902,392 (GRCm39) Q1082K probably damaging Het
Trim41 GCCTAGGCGCCCA G 11: 48,698,192 (GRCm39) probably benign Het
Trpm6 C T 19: 18,807,297 (GRCm39) R1014C probably damaging Het
Ugt1a10 TTCATCA TTCA 1: 88,143,880 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r61 T A 7: 41,916,677 (GRCm39) M430K probably benign Het
Vmn2r61 A G 7: 41,949,917 (GRCm39) E779G probably damaging Het
Zfp599 T C 9: 22,165,165 (GRCm39) D70G probably benign Het
Zmym1 A T 4: 126,943,191 (GRCm39) I301N probably damaging Het
Other mutations in Scaf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Scaf4 APN 16 90,044,169 (GRCm39) missense unknown
IGL00536:Scaf4 APN 16 90,054,250 (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
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
Predicted Primers PCR Primer
(F):5'- TAACAGCAGTGCTCAGAAGTAC -3'
(R):5'- TGGGAATAGTGTCCTTATCAGAGTTAG -3'

Sequencing Primer
(F):5'- AATGCTTTATGCCCCAGTGTAG -3'
(R):5'- GACTTAGGGCATTGAGTG -3'
Posted On 2016-10-26