Incidental Mutation 'IGL02083:Sfswap'
ID 283421
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sfswap
Ensembl Gene ENSMUSG00000029439
Gene Name splicing factor SWAP
Synonyms Sfrs8, 6330437E22Rik, 1190005N23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02083
Quality Score
Status
Chromosome 5
Chromosomal Location 129501221-129571384 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129539791 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 433 (V433A)
Ref Sequence ENSEMBL: ENSMUSP00000062413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053737] [ENSMUST00000196698]
AlphaFold Q3USH5
Predicted Effect probably benign
Transcript: ENSMUST00000053737
AA Change: V433A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: V433A

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 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: ENSMUST00000199215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199925
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 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A C 11: 69,889,510 L36V possibly damaging Het
Atp13a3 T C 16: 30,347,706 T540A possibly damaging Het
Bend5 A C 4: 111,459,767 I376L probably benign Het
Ccdc138 T C 10: 58,544,914 probably benign Het
Cdh10 T A 15: 18,986,889 I402N possibly damaging Het
Cfap44 T C 16: 44,437,162 V1020A probably damaging Het
Chd2 A T 7: 73,481,068 S749T possibly damaging Het
Doxl2 G A 6: 48,976,260 G373D probably damaging Het
Enpp3 T A 10: 24,776,794 D755V probably damaging Het
Fmo6 T A 1: 162,920,464 K344* probably null Het
Gabbr1 A G 17: 37,070,065 T767A possibly damaging Het
Gjd3 A G 11: 98,982,761 S86P probably damaging Het
Grin1 A G 2: 25,298,501 V432A possibly damaging Het
Igf2r A T 17: 12,693,192 C1849* probably null Het
Jcad G T 18: 4,680,266 probably benign Het
Mrgpra4 A T 7: 47,981,060 C264* probably null Het
Napepld T C 5: 21,676,067 Y110C probably damaging Het
Nat6 G T 9: 107,583,599 R231L probably benign Het
Ncapd3 A G 9: 27,051,821 E474G probably damaging Het
Pkhd1 T A 1: 20,201,227 D3034V probably damaging Het
Plxnc1 T C 10: 94,922,725 T370A possibly damaging Het
Ptger4 C T 15: 5,243,174 R13H probably benign Het
Scg2 T A 1: 79,436,224 T261S probably benign Het
Sipa1l3 A G 7: 29,387,261 Y635H probably damaging Het
Sp5 C A 2: 70,476,414 P148T possibly damaging Het
Tlr5 A G 1: 182,973,884 N251S possibly damaging Het
Tmem87a A T 2: 120,397,380 N95K probably damaging Het
Unc45b C T 11: 82,922,919 T384M probably damaging Het
Unc5c T C 3: 141,714,647 L117P probably damaging Het
Vcan T C 13: 89,725,565 N57D probably damaging Het
Zcchc8 G T 5: 123,700,918 T519K probably damaging Het
Zfp729b G A 13: 67,595,230 T72I probably benign 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
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
R1173:Sfswap UTSW 5 129507143 critical splice acceptor site probably null
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 splice site probably null
R8286:Sfswap UTSW 5 129539719 missense probably damaging 0.99
R8738:Sfswap UTSW 5 129543281 missense possibly damaging 0.52
R8943:Sfswap UTSW 5 129504104 missense probably damaging 1.00
R9119:Sfswap UTSW 5 129514765 missense probably benign
R9587:Sfswap UTSW 5 129541363 missense probably benign 0.00
RF003:Sfswap UTSW 5 129569764 unclassified probably benign
RF042:Sfswap UTSW 5 129569743 unclassified probably benign
RF049:Sfswap UTSW 5 129569744 unclassified probably benign
Posted On 2015-04-16