Incidental Mutation 'IGL02378:Sfswap'
ID 291237
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 # IGL02378
Quality Score
Status
Chromosome 5
Chromosomal Location 129578286-129648448 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129616668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 371 (Y371N)
Ref Sequence ENSEMBL: ENSMUSP00000062413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053737] [ENSMUST00000196698]
AlphaFold Q3USH5
Predicted Effect probably damaging
Transcript: ENSMUST00000053737
AA Change: Y371N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: Y371N

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G A 11: 72,080,424 (GRCm39) T414I probably benign Het
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Acer2 A T 4: 86,804,491 (GRCm39) T69S probably benign Het
Adcy2 A G 13: 68,878,411 (GRCm39) V409A probably damaging Het
Anks3 T A 16: 4,768,626 (GRCm39) Y239F possibly damaging Het
Arhgap42 G A 9: 9,035,584 (GRCm39) H253Y possibly damaging Het
Asb18 A T 1: 89,920,710 (GRCm39) L189Q probably damaging Het
C3 T C 17: 57,519,698 (GRCm39) R1185G probably benign Het
Cdca7l T A 12: 117,835,862 (GRCm39) V66E possibly damaging Het
Cdrt4 G T 11: 62,883,534 (GRCm39) E79* probably null Het
Cep57 A C 9: 13,732,842 (GRCm39) Y34* probably null Het
Cep63 A T 9: 102,473,314 (GRCm39) probably benign Het
Clip4 T A 17: 72,144,721 (GRCm39) I516K possibly damaging Het
Dnah10 A G 5: 124,850,131 (GRCm39) E1551G probably damaging Het
Dysf T C 6: 84,088,887 (GRCm39) I843T probably damaging Het
Gabra1 C A 11: 42,031,082 (GRCm39) V283F probably damaging Het
Hcfc2 T C 10: 82,544,905 (GRCm39) I179T possibly damaging Het
Htr2c G A X: 145,976,755 (GRCm39) probably benign Het
Irgc G A 7: 24,131,500 (GRCm39) T439I probably benign Het
Itgae T A 11: 73,008,947 (GRCm39) L476H probably benign Het
Jarid2 A C 13: 45,067,801 (GRCm39) K1070T probably damaging Het
Lama2 A G 10: 26,919,652 (GRCm39) I2193T probably damaging Het
Med19 A G 2: 84,515,625 (GRCm39) E103G probably damaging Het
Nav1 C T 1: 135,397,716 (GRCm39) D818N probably benign Het
Nom1 G T 5: 29,656,124 (GRCm39) E830* probably null Het
Or10g9b T G 9: 39,917,769 (GRCm39) T159P probably damaging Het
Or5b98 A C 19: 12,931,747 (GRCm39) S265R probably benign Het
Orai3 G T 7: 127,369,333 (GRCm39) R58L probably damaging Het
Osbpl8 T A 10: 111,118,006 (GRCm39) M583K possibly damaging Het
Pik3cb A T 9: 98,944,893 (GRCm39) M624K probably benign Het
Rars2 G A 4: 34,656,199 (GRCm39) R451H possibly damaging Het
Rgs22 A G 15: 36,103,951 (GRCm39) L170P probably benign Het
Rps6kl1 C A 12: 85,185,448 (GRCm39) D417Y probably damaging Het
Senp6 A G 9: 80,033,674 (GRCm39) D106G probably damaging Het
Setx C T 2: 29,063,738 (GRCm39) probably benign Het
Slc24a3 C T 2: 145,360,322 (GRCm39) R141C possibly damaging Het
Sorcs1 C T 19: 50,171,109 (GRCm39) W926* probably null Het
Steap4 A G 5: 8,026,741 (GRCm39) T235A probably benign Het
Tead2 T A 7: 44,867,571 (GRCm39) probably null Het
Tll1 A T 8: 64,470,660 (GRCm39) L921* probably null Het
Tnfrsf19 T A 14: 61,208,451 (GRCm39) T357S probably benign Het
Tnik C A 3: 28,692,608 (GRCm39) S825* probably null Het
Vil1 T A 1: 74,469,850 (GRCm39) probably null Het
Vmn2r106 T C 17: 20,497,791 (GRCm39) K483E probably damaging Het
Vwa5a G A 9: 38,645,266 (GRCm39) M450I probably benign Het
Xirp2 C T 2: 67,344,112 (GRCm39) P2118S 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
IGL02083:Sfswap APN 5 129,616,855 (GRCm39) missense probably benign
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