Incidental Mutation 'R4835:Scaf4'
ID 373193
Institutional Source Beutler Lab
Gene Symbol Scaf4
Ensembl Gene ENSMUSG00000022983
Gene Name SR-related CTD-associated factor 4
Synonyms Sra4, Srsf15, Sfrs15
MMRRC Submission 042450-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.637) question?
Stock # R4835 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 90022568-90081391 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90047195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 394 (M394T)
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: M394T
SMART Domains Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983
AA Change: M394T

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: M394T
SMART Domains Protein: ENSMUSP00000132250
Gene: ENSMUSG00000022983
AA Change: M394T

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: M394T
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (96/98)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,274,326 (GRCm39) noncoding transcript Het
4933434E20Rik A G 3: 89,970,516 (GRCm39) N17D probably benign Het
A1bg T C 15: 60,792,100 (GRCm39) D176G probably benign Het
Abcg5 A T 17: 84,966,076 (GRCm39) M428K possibly damaging Het
Adam1a A T 5: 121,657,752 (GRCm39) C514S probably damaging Het
Angptl3 A G 4: 98,925,649 (GRCm39) Q325R probably benign Het
Ankrd26 C T 6: 118,525,811 (GRCm39) W378* probably null Het
Apob T C 12: 8,065,391 (GRCm39) V4087A possibly damaging Het
Auts2 A G 5: 131,494,931 (GRCm39) I117T probably damaging Het
AW146154 T A 7: 41,129,892 (GRCm39) E408V probably damaging Het
Bicd1 A T 6: 149,385,588 (GRCm39) N107I probably benign Het
Blm T C 7: 80,159,294 (GRCm39) S281G probably benign Het
Btaf1 T A 19: 36,979,858 (GRCm39) D1542E probably benign Het
C2cd2l A G 9: 44,226,442 (GRCm39) probably null Het
Capn8 C A 1: 182,432,116 (GRCm39) N362K probably damaging Het
Ccdc14 T G 16: 34,525,408 (GRCm39) S186A probably damaging Het
Cdca4 A G 12: 112,785,167 (GRCm39) L187P probably damaging Het
Chil6 T A 3: 106,313,290 (GRCm39) K20* probably null Het
Cmss1 A T 16: 57,136,545 (GRCm39) L109* probably null Het
Cmtm6 G T 9: 114,560,410 (GRCm39) W36L probably benign Het
Cnksr3 T G 10: 7,110,757 (GRCm39) I35L possibly damaging Het
Col4a2 G T 8: 11,473,570 (GRCm39) G534* probably null Het
Col5a1 T G 2: 27,915,656 (GRCm39) V180G probably damaging Het
Ctnna3 T C 10: 63,417,723 (GRCm39) F154L probably benign Het
Fabp7 G A 10: 57,661,676 (GRCm39) V50M possibly damaging Het
Fam170a T A 18: 50,415,050 (GRCm39) V232D probably damaging Het
Fam186a T G 15: 99,843,689 (GRCm39) T852P unknown Het
Fam20a T C 11: 109,564,389 (GRCm39) I455V probably benign Het
Fbxl6 C T 15: 76,421,004 (GRCm39) V324M probably damaging Het
Galnt18 T C 7: 111,378,730 (GRCm39) T9A probably damaging Het
Golgb1 T A 16: 36,711,769 (GRCm39) M191K possibly damaging Het
Gpld1 A G 13: 25,166,699 (GRCm39) T650A probably benign Het
Gprc5d A G 6: 135,093,515 (GRCm39) F131L probably benign Het
H2az2 C T 11: 6,389,437 (GRCm39) G7E unknown Het
Haus4 A T 14: 54,783,292 (GRCm39) probably null Het
Helq A G 5: 100,922,029 (GRCm39) I725T possibly damaging Het
Igsf23 T A 7: 19,675,755 (GRCm39) D117V possibly damaging Het
Kiz A T 2: 146,784,008 (GRCm39) S514C probably damaging Het
Klhl6 A T 16: 19,775,783 (GRCm39) N258K probably benign Het
Krt72 G C 15: 101,689,508 (GRCm39) probably null Het
Large1 A T 8: 73,774,975 (GRCm39) I245N probably damaging Het
Lrrc31 T C 3: 30,733,306 (GRCm39) I469M probably damaging Het
Lypd4 T A 7: 24,566,121 (GRCm39) I68F probably benign Het
Mast1 A G 8: 85,650,408 (GRCm39) S442P probably damaging Het
Mmp20 T A 9: 7,645,300 (GRCm39) H283Q probably benign Het
Mrps5 G A 2: 127,445,627 (GRCm39) V385M possibly damaging Het
Ms4a15 T C 19: 10,956,590 (GRCm39) K241E possibly damaging Het
Myt1 A G 2: 181,439,255 (GRCm39) E259G probably damaging Het
Myt1l C A 12: 29,945,304 (GRCm39) T1023K unknown Het
Ncapd3 T C 9: 26,997,342 (GRCm39) L1221P probably damaging Het
Ncoa6 A G 2: 155,249,053 (GRCm39) V1417A possibly damaging Het
Nmnat1 A G 4: 149,557,802 (GRCm39) V80A possibly damaging Het
Nwd2 A G 5: 63,965,189 (GRCm39) E1591G probably benign Het
Or10ac1 A G 6: 42,515,770 (GRCm39) F62S probably damaging Het
Or8j3b A G 2: 86,204,853 (GRCm39) L301S possibly damaging Het
Osbpl1a A T 18: 12,901,593 (GRCm39) probably null Het
Papln T C 12: 83,821,194 (GRCm39) I204T probably damaging Het
Phf1 A G 17: 27,153,652 (GRCm39) T97A probably benign Het
Plxnb1 A G 9: 108,934,442 (GRCm39) D890G probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Rbp2 G A 9: 98,389,876 (GRCm39) C96Y probably damaging Het
Rgmb A T 17: 16,027,624 (GRCm39) M365K possibly damaging Het
Ric1 A G 19: 29,572,936 (GRCm39) N792S possibly damaging Het
Ruvbl1 T C 6: 88,474,211 (GRCm39) Y405H possibly damaging Het
Siglech T A 7: 55,418,177 (GRCm39) C48* probably null Het
Skic2 A G 17: 35,061,897 (GRCm39) V695A possibly damaging Het
Slc2a5 A G 4: 150,224,462 (GRCm39) T320A probably benign Het
Slc6a7 T C 18: 61,135,277 (GRCm39) Y417C probably benign Het
Sox21 A G 14: 118,472,336 (GRCm39) C238R possibly damaging Het
Tbata A T 10: 61,019,132 (GRCm39) K109N probably damaging Het
Tecpr2 T G 12: 110,921,164 (GRCm39) S1246A probably benign Het
Tekt3 A G 11: 62,972,085 (GRCm39) D247G probably benign Het
Tenm3 A T 8: 48,766,271 (GRCm39) probably null Het
Thada A T 17: 84,748,532 (GRCm39) probably null Het
Tpcn2 C T 7: 144,826,088 (GRCm39) G204R probably damaging Het
Tpm2 T C 4: 43,519,220 (GRCm39) probably null Het
Trbv24 T C 6: 41,195,026 (GRCm39) probably benign Het
Tyw1 A G 5: 130,305,899 (GRCm39) R341G probably benign Het
Vmn1r183 T G 7: 23,754,564 (GRCm39) N122K probably benign Het
Vmn2r61 T A 7: 41,916,459 (GRCm39) H357Q possibly damaging Het
Vps13b C T 15: 35,869,518 (GRCm39) T2674I probably damaging Het
Vps13b T C 15: 35,910,439 (GRCm39) L3401P probably benign Het
Vps16 T G 2: 130,280,220 (GRCm39) probably benign Het
Vrtn T A 12: 84,696,468 (GRCm39) I406N probably damaging Het
Vwa8 A T 14: 79,172,053 (GRCm39) Y278F probably benign Het
Washc4 A T 10: 83,415,376 (GRCm39) I789F possibly damaging Het
Zbtb20 C A 16: 43,438,761 (GRCm39) T627K probably damaging Het
Zfyve16 A T 13: 92,658,693 (GRCm39) I406K probably benign Het
Zfyve9 A C 4: 108,575,195 (GRCm39) S629A possibly damaging Het
Zpld1 A T 16: 55,068,618 (GRCm39) N164K 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
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
Predicted Primers PCR Primer
(F):5'- TACTGGTGGAGCTGGAGAAACC -3'
(R):5'- GTATAGAAACCGGGTAGCTTTTC -3'

Sequencing Primer
(F):5'- TGGAGAAACCCCAGGCTG -3'
(R):5'- CCGGGTAGCTTTTCTCAATTAAAATG -3'
Posted On 2016-03-01