Incidental Mutation 'R1173:Sfswap'
ID239211
Institutional Source Beutler Lab
Gene Symbol Sfswap
Ensembl Gene ENSMUSG00000029439
Gene Namesplicing factor SWAP
SynonymsSfrs8, 6330437E22Rik, 1190005N23Rik
MMRRC Submission 039246-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1173 (G1)
Quality Score26
Status Validated
Chromosome5
Chromosomal Location129501221-129571384 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) G to A at 129507143 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000062413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053737] [ENSMUST00000053737] [ENSMUST00000196698] [ENSMUST00000196698] [ENSMUST00000200500]
Predicted Effect probably null
Transcript: ENSMUST00000053737
SMART Domains Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
DRY_EERY 33 157 1.15e-57 SMART
low complexity region 160 170 N/A INTRINSIC
low complexity region 174 186 N/A INTRINSIC
SWAP 209 262 3.94e-19 SMART
low complexity region 286 293 N/A INTRINSIC
low complexity region 333 352 N/A INTRINSIC
low complexity region 397 441 N/A INTRINSIC
SWAP 456 507 9.55e-18 SMART
low complexity region 513 532 N/A INTRINSIC
low complexity region 548 562 N/A INTRINSIC
low complexity region 598 607 N/A INTRINSIC
coiled coil region 631 686 N/A INTRINSIC
low complexity region 741 788 N/A INTRINSIC
low complexity region 797 821 N/A INTRINSIC
low complexity region 840 865 N/A INTRINSIC
low complexity region 871 888 N/A INTRINSIC
low complexity region 889 905 N/A INTRINSIC
low complexity region 909 920 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000053737
SMART Domains Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
DRY_EERY 33 157 1.15e-57 SMART
low complexity region 160 170 N/A INTRINSIC
low complexity region 174 186 N/A INTRINSIC
SWAP 209 262 3.94e-19 SMART
low complexity region 286 293 N/A INTRINSIC
low complexity region 333 352 N/A INTRINSIC
low complexity region 397 441 N/A INTRINSIC
SWAP 456 507 9.55e-18 SMART
low complexity region 513 532 N/A INTRINSIC
low complexity region 548 562 N/A INTRINSIC
low complexity region 598 607 N/A INTRINSIC
coiled coil region 631 686 N/A INTRINSIC
low complexity region 741 788 N/A INTRINSIC
low complexity region 797 821 N/A INTRINSIC
low complexity region 840 865 N/A INTRINSIC
low complexity region 871 888 N/A INTRINSIC
low complexity region 889 905 N/A INTRINSIC
low complexity region 909 920 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196147
Predicted Effect probably benign
Transcript: ENSMUST00000196698
SMART Domains Protein: ENSMUSP00000142464
Gene: ENSMUSG00000029439

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
DRY_EERY 33 121 1.8e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196698
SMART Domains Protein: ENSMUSP00000142464
Gene: ENSMUSG00000029439

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
DRY_EERY 33 121 1.8e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199925
Predicted Effect probably benign
Transcript: ENSMUST00000200500
SMART Domains Protein: ENSMUSP00000143351
Gene: ENSMUSG00000029439

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200662
Meta Mutation Damage Score 0.9597 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.9%
Validation Efficiency 99% (72/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit a wobbly phenotype with inner ear defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik T A 6: 50,589,141 K118M probably damaging Het
Accsl A T 2: 93,866,244 probably benign Het
Adam30 G A 3: 98,162,906 S685N probably benign Het
Adamts12 T C 15: 11,071,757 V129A probably benign Het
Agxt2 T C 15: 10,373,751 F81S probably damaging Het
Ahnak2 A T 12: 112,785,789 I186N probably damaging Het
Amz1 A T 5: 140,751,936 probably null Het
Anapc5 G A 5: 122,788,418 A619V possibly damaging Het
Bbox1 T C 2: 110,265,611 D336G probably damaging Het
Bivm A G 1: 44,126,782 T131A probably benign Het
Bpi A T 2: 158,267,740 I203F probably benign Het
Cd151 A C 7: 141,470,656 T241P probably damaging Het
Cdh23 G A 10: 60,312,392 probably benign Het
Cdh7 G A 1: 110,061,132 V255I probably benign Het
Cul9 C G 17: 46,522,175 A1326P probably damaging Het
Dclre1b A C 3: 103,803,876 S240A probably benign Het
Ddc A C 11: 11,846,634 probably null Het
Dkk1 T C 19: 30,547,250 R252G probably damaging Het
Dmrtc2 T A 7: 24,874,313 M191K possibly damaging Het
Eml6 A G 11: 29,749,824 S1771P possibly damaging Het
Emx1 T C 6: 85,188,371 probably benign Het
Fah T C 7: 84,601,136 M1V probably null Het
Fmo6 A T 1: 162,926,141 M144K probably damaging Het
Frem1 A G 4: 82,950,352 V1445A probably benign Het
Fsd2 T C 7: 81,559,770 D108G probably benign Het
Gfm2 A G 13: 97,165,200 probably null Het
Ghrhr T A 6: 55,388,269 L416* probably null Het
Glipr1l2 C A 10: 112,083,466 L31I possibly damaging Het
Gm19965 T A 1: 116,820,820 probably benign Het
Gpr149 A G 3: 62,604,467 L37P probably damaging Het
Hoxa9 A G 6: 52,225,713 I131T probably damaging Het
Htra4 T C 8: 25,030,619 D342G possibly damaging Het
Idh1 G T 1: 65,161,160 N348K probably benign Het
Impdh2 T C 9: 108,561,829 F99S probably benign Het
Kank4 T C 4: 98,765,569 Y874C probably damaging Het
Kazn A T 4: 142,159,038 probably benign Het
Kcnq3 T A 15: 66,000,042 T593S probably benign Het
Lamc1 T C 1: 153,247,231 probably benign Het
Magi3 A G 3: 104,061,630 probably null Het
Map3k19 A G 1: 127,823,880 V578A probably benign Het
Meox2 T C 12: 37,109,152 C108R possibly damaging Het
Nlrp9c C A 7: 26,380,435 C722F probably damaging Het
Olfr448 T C 6: 42,897,351 V300A probably benign Het
Pde10a C T 17: 8,920,546 probably benign Het
Ppfia4 A G 1: 134,332,283 probably benign Het
Psg18 T C 7: 18,354,817 M1V probably null Het
Qtrt1 A G 9: 21,412,486 T136A probably benign Het
Retsat T C 6: 72,603,651 probably benign Het
Rxfp2 T C 5: 150,051,556 V210A probably benign Het
Slc16a7 A T 10: 125,231,372 L133I possibly damaging Het
Slc30a3 A T 5: 31,086,810 M376K probably damaging Het
Srbd1 C T 17: 86,098,512 C620Y probably null Het
Svs1 C A 6: 48,990,239 P707H probably damaging Het
Trip10 T A 17: 57,253,363 L100Q probably damaging Het
Tyrp1 C T 4: 80,844,868 Q331* probably null Het
Vangl2 G T 1: 172,004,786 T501N probably damaging Het
Vdr A T 15: 97,869,333 Y185N probably benign Het
Vmn1r123 C T 7: 21,162,332 P50S probably damaging Het
Vmn1r158 T A 7: 22,790,445 H113L probably benign Het
Vmn2r12 A T 5: 109,092,854 I131N probably benign Het
Vmn2r72 T A 7: 85,751,944 E89V probably damaging Het
Xrcc6 A G 15: 82,031,163 D94G probably damaging Het
Zbtb32 T A 7: 30,591,267 E201V possibly damaging Het
Zfp185 A T X: 72,999,323 E138D possibly damaging Het
Zmynd11 T A 13: 9,689,549 H437L probably damaging Het
Other mutations in Sfswap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00740:Sfswap APN 5 129513233 missense probably damaging 1.00
IGL02064:Sfswap APN 5 129560796 missense probably benign 0.17
IGL02083:Sfswap APN 5 129539791 missense probably benign
IGL02378:Sfswap APN 5 129539604 missense probably damaging 1.00
FR4340:Sfswap UTSW 5 129569751 unclassified probably benign
FR4342:Sfswap UTSW 5 129569757 unclassified probably benign
FR4449:Sfswap UTSW 5 129569748 unclassified probably benign
FR4449:Sfswap UTSW 5 129569749 unclassified probably benign
FR4548:Sfswap UTSW 5 129569749 unclassified probably benign
FR4548:Sfswap UTSW 5 129569755 unclassified probably benign
FR4737:Sfswap UTSW 5 129569756 unclassified probably benign
FR4976:Sfswap UTSW 5 129569751 unclassified probably benign
I1329:Sfswap UTSW 5 129507137 unclassified probably benign
P0033:Sfswap UTSW 5 129539755 missense possibly damaging 0.60
R0184:Sfswap UTSW 5 129507189 missense probably damaging 0.97
R0233:Sfswap UTSW 5 129554543 missense possibly damaging 0.82
R0233:Sfswap UTSW 5 129554543 missense possibly damaging 0.82
R0414:Sfswap UTSW 5 129504051 missense possibly damaging 0.83
R0415:Sfswap UTSW 5 129504126 missense probably damaging 1.00
R0570:Sfswap UTSW 5 129503978 splice site probably benign
R1018:Sfswap UTSW 5 129554576 missense possibly damaging 0.91
R1298:Sfswap UTSW 5 129541378 missense probably benign 0.14
R1723:Sfswap UTSW 5 129539694 missense probably benign
R1783:Sfswap UTSW 5 129513240 missense possibly damaging 0.92
R1828:Sfswap UTSW 5 129513084 missense probably damaging 1.00
R1879:Sfswap UTSW 5 129541328 missense probably benign 0.01
R2078:Sfswap UTSW 5 129516107 missense possibly damaging 0.81
R2349:Sfswap UTSW 5 129569738 missense possibly damaging 0.87
R3757:Sfswap UTSW 5 129513234 missense probably damaging 1.00
R4093:Sfswap UTSW 5 129560741 missense possibly damaging 0.85
R4094:Sfswap UTSW 5 129560741 missense possibly damaging 0.85
R4095:Sfswap UTSW 5 129560741 missense possibly damaging 0.85
R4785:Sfswap UTSW 5 129513083 missense probably damaging 1.00
R5139:Sfswap UTSW 5 129571009 missense possibly damaging 0.73
R5355:Sfswap UTSW 5 129539746 missense probably benign 0.09
R5481:Sfswap UTSW 5 129514818 missense probably damaging 0.98
R5600:Sfswap UTSW 5 129513158 missense probably damaging 1.00
R5686:Sfswap UTSW 5 129514818 missense probably damaging 0.98
R5906:Sfswap UTSW 5 129542043 missense probably benign 0.22
R6332:Sfswap UTSW 5 129571041 missense possibly damaging 0.91
R6738:Sfswap UTSW 5 129541441 missense probably damaging 0.98
R6743:Sfswap UTSW 5 129550819 nonsense probably null
R7371:Sfswap UTSW 5 129543241 missense probably benign 0.01
R7747:Sfswap UTSW 5 129550593 intron probably null
RF003:Sfswap UTSW 5 129569764 unclassified probably benign
RF042:Sfswap UTSW 5 129569743 unclassified probably benign
RF049:Sfswap UTSW 5 129569744 unclassified probably benign
Predicted Primers
Posted On2014-10-08