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, 1190005N23Rik, 6330437E22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02083
Quality Score
Status
Chromosome 5
Chromosomal Location 129578286-129648448 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129616855 bp (GRCm39)
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: 69,780,336 (GRCm39) L36V possibly damaging Het
Aoc1l1 G A 6: 48,953,194 (GRCm39) G373D probably damaging Het
Atp13a3 T C 16: 30,166,524 (GRCm39) T540A possibly damaging Het
Bend5 A C 4: 111,316,964 (GRCm39) I376L probably benign Het
Ccdc138 T C 10: 58,380,736 (GRCm39) probably benign Het
Cdh10 T A 15: 18,986,975 (GRCm39) I402N possibly damaging Het
Cfap44 T C 16: 44,257,525 (GRCm39) V1020A probably damaging Het
Chd2 A T 7: 73,130,816 (GRCm39) S749T possibly damaging Het
Enpp3 T A 10: 24,652,692 (GRCm39) D755V probably damaging Het
Fmo6 T A 1: 162,748,033 (GRCm39) K344* probably null Het
Gabbr1 A G 17: 37,380,957 (GRCm39) T767A possibly damaging Het
Gjd3 A G 11: 98,873,587 (GRCm39) S86P probably damaging Het
Grin1 A G 2: 25,188,513 (GRCm39) V432A possibly damaging Het
Igf2r A T 17: 12,912,079 (GRCm39) C1849* probably null Het
Jcad G T 18: 4,680,266 (GRCm39) probably benign Het
Mrgpra4 A T 7: 47,630,808 (GRCm39) C264* probably null Het
Naa80 G T 9: 107,460,798 (GRCm39) R231L probably benign Het
Napepld T C 5: 21,881,065 (GRCm39) Y110C probably damaging Het
Ncapd3 A G 9: 26,963,117 (GRCm39) E474G probably damaging Het
Pkhd1 T A 1: 20,271,451 (GRCm39) D3034V probably damaging Het
Plxnc1 T C 10: 94,758,587 (GRCm39) T370A possibly damaging Het
Ptger4 C T 15: 5,272,655 (GRCm39) R13H probably benign Het
Scg2 T A 1: 79,413,941 (GRCm39) T261S probably benign Het
Sipa1l3 A G 7: 29,086,686 (GRCm39) Y635H probably damaging Het
Sp5 C A 2: 70,306,758 (GRCm39) P148T possibly damaging Het
Tlr5 A G 1: 182,801,449 (GRCm39) N251S possibly damaging Het
Tmem87a A T 2: 120,227,861 (GRCm39) N95K probably damaging Het
Unc45b C T 11: 82,813,745 (GRCm39) T384M probably damaging Het
Unc5c T C 3: 141,420,408 (GRCm39) L117P probably damaging Het
Vcan T C 13: 89,873,684 (GRCm39) N57D probably damaging Het
Zcchc8 G T 5: 123,838,981 (GRCm39) T519K probably damaging Het
Zfp729b G A 13: 67,743,349 (GRCm39) T72I probably benign Het
Other mutations in Sfswap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00740:Sfswap APN 5 129,590,297 (GRCm39) missense probably damaging 1.00
IGL02064:Sfswap APN 5 129,637,860 (GRCm39) missense probably benign 0.17
IGL02378:Sfswap APN 5 129,616,668 (GRCm39) missense probably damaging 1.00
FR4340:Sfswap UTSW 5 129,646,815 (GRCm39) unclassified probably benign
FR4342:Sfswap UTSW 5 129,646,821 (GRCm39) unclassified probably benign
FR4449:Sfswap UTSW 5 129,646,813 (GRCm39) unclassified probably benign
FR4449:Sfswap UTSW 5 129,646,812 (GRCm39) unclassified probably benign
FR4548:Sfswap UTSW 5 129,646,819 (GRCm39) unclassified probably benign
FR4548:Sfswap UTSW 5 129,646,813 (GRCm39) unclassified probably benign
FR4737:Sfswap UTSW 5 129,646,820 (GRCm39) unclassified probably benign
FR4976:Sfswap UTSW 5 129,646,815 (GRCm39) unclassified probably benign
I1329:Sfswap UTSW 5 129,584,201 (GRCm39) unclassified probably benign
P0033:Sfswap UTSW 5 129,616,819 (GRCm39) missense possibly damaging 0.60
R0184:Sfswap UTSW 5 129,584,253 (GRCm39) missense probably damaging 0.97
R0233:Sfswap UTSW 5 129,631,607 (GRCm39) missense possibly damaging 0.82
R0233:Sfswap UTSW 5 129,631,607 (GRCm39) missense possibly damaging 0.82
R0414:Sfswap UTSW 5 129,581,115 (GRCm39) missense possibly damaging 0.83
R0415:Sfswap UTSW 5 129,581,190 (GRCm39) missense probably damaging 1.00
R0570:Sfswap UTSW 5 129,581,042 (GRCm39) splice site probably benign
R1018:Sfswap UTSW 5 129,631,640 (GRCm39) missense possibly damaging 0.91
R1173:Sfswap UTSW 5 129,584,207 (GRCm39) critical splice acceptor site probably null
R1298:Sfswap UTSW 5 129,618,442 (GRCm39) missense probably benign 0.14
R1723:Sfswap UTSW 5 129,616,758 (GRCm39) missense probably benign
R1783:Sfswap UTSW 5 129,590,304 (GRCm39) missense possibly damaging 0.92
R1828:Sfswap UTSW 5 129,590,148 (GRCm39) missense probably damaging 1.00
R1879:Sfswap UTSW 5 129,618,392 (GRCm39) missense probably benign 0.01
R2078:Sfswap UTSW 5 129,593,171 (GRCm39) missense possibly damaging 0.81
R2349:Sfswap UTSW 5 129,646,802 (GRCm39) missense possibly damaging 0.87
R3757:Sfswap UTSW 5 129,590,298 (GRCm39) missense probably damaging 1.00
R4093:Sfswap UTSW 5 129,637,805 (GRCm39) missense possibly damaging 0.85
R4094:Sfswap UTSW 5 129,637,805 (GRCm39) missense possibly damaging 0.85
R4095:Sfswap UTSW 5 129,637,805 (GRCm39) missense possibly damaging 0.85
R4785:Sfswap UTSW 5 129,590,147 (GRCm39) missense probably damaging 1.00
R5139:Sfswap UTSW 5 129,648,073 (GRCm39) missense possibly damaging 0.73
R5355:Sfswap UTSW 5 129,616,810 (GRCm39) missense probably benign 0.09
R5481:Sfswap UTSW 5 129,591,882 (GRCm39) missense probably damaging 0.98
R5600:Sfswap UTSW 5 129,590,222 (GRCm39) missense probably damaging 1.00
R5686:Sfswap UTSW 5 129,591,882 (GRCm39) missense probably damaging 0.98
R5906:Sfswap UTSW 5 129,619,107 (GRCm39) missense probably benign 0.22
R6332:Sfswap UTSW 5 129,648,105 (GRCm39) missense possibly damaging 0.91
R6738:Sfswap UTSW 5 129,618,505 (GRCm39) missense probably damaging 0.98
R6743:Sfswap UTSW 5 129,627,883 (GRCm39) nonsense probably null
R7371:Sfswap UTSW 5 129,620,305 (GRCm39) missense probably benign 0.01
R7747:Sfswap UTSW 5 129,627,657 (GRCm39) splice site probably null
R8286:Sfswap UTSW 5 129,616,783 (GRCm39) missense probably damaging 0.99
R8738:Sfswap UTSW 5 129,620,345 (GRCm39) missense possibly damaging 0.52
R8943:Sfswap UTSW 5 129,581,168 (GRCm39) missense probably damaging 1.00
R9119:Sfswap UTSW 5 129,591,829 (GRCm39) missense probably benign
R9587:Sfswap UTSW 5 129,618,427 (GRCm39) missense probably benign 0.00
R9601:Sfswap UTSW 5 129,618,463 (GRCm39) missense possibly damaging 0.94
R9718:Sfswap UTSW 5 129,616,848 (GRCm39) missense probably benign
RF003:Sfswap UTSW 5 129,646,828 (GRCm39) unclassified probably benign
RF042:Sfswap UTSW 5 129,646,807 (GRCm39) unclassified probably benign
RF049:Sfswap UTSW 5 129,646,808 (GRCm39) unclassified probably benign
Posted On 2015-04-16