Incidental Mutation 'R6364:Scaf4'
ID 513440
Institutional Source Beutler Lab
Gene Symbol Scaf4
Ensembl Gene ENSMUSG00000022983
Gene Name SR-related CTD-associated factor 4
Synonyms Sra4, Srsf15, Sfrs15
MMRRC Submission 044514-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.637) question?
Stock # R6364 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 90022568-90081391 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 90057136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 72 (Q72*)
Ref Sequence ENSEMBL: ENSMUSP00000156174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039280] [ENSMUST00000163419] [ENSMUST00000232371]
AlphaFold Q7TSH6
Predicted Effect probably null
Transcript: ENSMUST00000039280
AA Change: Q72*
SMART Domains Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983
AA Change: Q72*

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 probably null
Transcript: ENSMUST00000163419
AA Change: Q72*
SMART Domains Protein: ENSMUSP00000132250
Gene: ENSMUSG00000022983
AA Change: Q72*

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 probably null
Transcript: ENSMUST00000232371
AA Change: Q72*
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 99% (69/70)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,869,673 (GRCm39) Y234C possibly damaging Het
Ambra1 C A 2: 91,603,661 (GRCm39) H548Q possibly damaging Het
Ap3d1 T C 10: 80,546,328 (GRCm39) probably null Het
Apol11b A G 15: 77,522,258 (GRCm39) V13A possibly damaging Het
Arhgdib C T 6: 136,909,253 (GRCm39) probably null Het
B3galt1 T A 2: 67,949,016 (GRCm39) S244T probably damaging Het
Bace2 A G 16: 97,214,633 (GRCm39) I274V probably benign Het
Bfsp2 A T 9: 103,325,827 (GRCm39) V272D probably damaging Het
Blm A T 7: 80,144,274 (GRCm39) C782* probably null Het
Cfi G A 3: 129,666,495 (GRCm39) S406N probably benign Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Cic C A 7: 24,972,248 (GRCm39) H660N possibly damaging Het
Cops3 A G 11: 59,726,230 (GRCm39) probably benign Het
Dlec1 G A 9: 118,950,939 (GRCm39) V502I possibly damaging Het
Dync2i1 A T 12: 116,205,352 (GRCm39) D412E probably damaging Het
Epop A G 11: 97,519,513 (GRCm39) S199P probably benign Het
Evi5 G T 5: 107,989,979 (GRCm39) P80Q probably damaging Het
Faf1 T C 4: 109,818,997 (GRCm39) V623A possibly damaging Het
Fam83c T C 2: 155,676,443 (GRCm39) D109G probably damaging Het
Fam83d T C 2: 158,625,179 (GRCm39) probably null Het
Flacc1 G T 1: 58,697,531 (GRCm39) A403D probably damaging Het
Foxn3 T C 12: 99,354,952 (GRCm39) N71D probably benign Het
Gm7298 A G 6: 121,756,402 (GRCm39) R1016G possibly damaging Het
Grin2d T C 7: 45,507,878 (GRCm39) E396G possibly damaging Het
Htra2 C A 6: 83,030,027 (GRCm39) V311F probably damaging Het
Kif6 A T 17: 49,927,651 (GRCm39) T33S probably benign Het
Kmt2c T C 5: 25,514,634 (GRCm39) I3070V probably null Het
Krtap5-2 A T 7: 141,728,800 (GRCm39) C293* probably null Het
Lrp3 T A 7: 34,903,134 (GRCm39) D404V probably benign Het
LTO1 A G 7: 144,473,005 (GRCm39) D105G probably benign Het
Mc2r T G 18: 68,540,607 (GRCm39) I229L probably benign Het
Mtnr1b A G 9: 15,774,300 (GRCm39) M253T possibly damaging Het
Nfat5 A G 8: 108,094,909 (GRCm39) N531S probably benign Het
Niban3 G A 8: 72,051,733 (GRCm39) G23S probably benign Het
Npr2 T A 4: 43,643,622 (GRCm39) I550N probably damaging Het
Npy6r T C 18: 44,409,578 (GRCm39) I333T possibly damaging Het
Nup88 C T 11: 70,838,612 (GRCm39) R468Q probably benign Het
Nup98 G A 7: 101,825,522 (GRCm39) T422I probably damaging Het
Or10aa1 T A 1: 173,869,778 (GRCm39) H87Q possibly damaging Het
Otud4 A G 8: 80,372,970 (GRCm39) N96S probably damaging Het
Paqr6 T C 3: 88,273,265 (GRCm39) F86L probably damaging Het
Ppp4r3b A T 11: 29,138,035 (GRCm39) T90S probably benign Het
Ptbp2 A T 3: 119,534,091 (GRCm39) N23K probably damaging Het
Ralgapb G T 2: 158,304,029 (GRCm39) G596V probably damaging Het
Rdm1 G A 11: 101,521,068 (GRCm39) R94H probably benign Het
Rergl A T 6: 139,477,746 (GRCm39) F28I probably damaging Het
Rif1 G T 2: 51,997,681 (GRCm39) S1000I probably damaging Het
Rnf141 C T 7: 110,420,516 (GRCm39) A163T possibly damaging Het
Sdk1 G T 5: 141,948,464 (GRCm39) S603I probably benign Het
Sdsl T C 5: 120,598,674 (GRCm39) I147M probably damaging Het
Serpina6 T C 12: 103,620,495 (GRCm39) N85D probably benign Het
Serpinf2 A G 11: 75,327,315 (GRCm39) I204T probably damaging Het
Shank2 A G 7: 143,964,146 (GRCm39) S795G probably benign Het
Simc1 C T 13: 54,672,413 (GRCm39) Q254* probably null Het
Slc30a3 G A 5: 31,246,083 (GRCm39) P216S possibly damaging Het
Smim14 T A 5: 65,610,639 (GRCm39) I53F probably benign Het
Sp3 T C 2: 72,801,285 (GRCm39) T243A probably benign Het
Srpk2 A G 5: 23,745,465 (GRCm39) F164L probably damaging Het
Stard9 T C 2: 120,543,910 (GRCm39) F4403L probably damaging Het
Tbc1d30 T C 10: 121,130,630 (GRCm39) T267A possibly damaging Het
Tgm7 T A 2: 120,926,878 (GRCm39) R424* probably null Het
Tmbim6 T C 15: 99,304,066 (GRCm39) L113P probably damaging Het
Tmcc1 G A 6: 116,020,722 (GRCm39) probably benign Het
Tomm7 A G 5: 24,049,028 (GRCm39) L15P probably damaging Het
Tpcn1 T C 5: 120,691,875 (GRCm39) Y263C probably damaging Het
Trim34b T C 7: 103,985,733 (GRCm39) F456S probably damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Vmn2r108 A G 17: 20,691,260 (GRCm39) I421T probably benign Het
Wdr43 A G 17: 71,964,649 (GRCm39) E676G probably damaging Het
Zcchc14 G T 8: 122,331,598 (GRCm39) probably benign Het
Zfp64 C A 2: 168,754,186 (GRCm39) G25V probably damaging Het
Zswim8 C A 14: 20,763,079 (GRCm39) P326H 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
R5615:Scaf4 UTSW 16 90,048,848 (GRCm39) missense unknown
R5638:Scaf4 UTSW 16 90,041,198 (GRCm39) missense unknown
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'- CGTGAACGTAAGCATTGTGTG -3'
(R):5'- CGAGCTGATGTGTGACATAGTG -3'

Sequencing Primer
(F):5'- AGCATTGTGTGAGAAATATAAAGAGG -3'
(R):5'- AGACAGTTTTACTCTGTAGCCCTGG -3'
Posted On 2018-04-27