Incidental Mutation 'R8943:Sfswap'
ID 681091
Institutional Source Beutler Lab
Gene Symbol Sfswap
Ensembl Gene ENSMUSG00000029439
Gene Name splicing factor SWAP
Synonyms Sfrs8, 1190005N23Rik, 6330437E22Rik
MMRRC Submission 068782-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8943 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 129578286-129648448 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129581168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 114 (R114G)
Ref Sequence ENSEMBL: ENSMUSP00000142464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053737] [ENSMUST00000196698] [ENSMUST00000200500]
AlphaFold Q3USH5
Predicted Effect probably damaging
Transcript: ENSMUST00000053737
AA Change: R114G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: R114G

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 damaging
Transcript: ENSMUST00000196698
AA Change: R114G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142464
Gene: ENSMUSG00000029439
AA Change: R114G

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

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Meta Mutation Damage Score 0.9342 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 98% (50/51)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,275,667 (GRCm39) S457P probably damaging Het
Aak1 A G 6: 86,964,234 (GRCm39) N945S unknown Het
Actr1a C A 19: 46,369,438 (GRCm39) R192L possibly damaging Het
Adgrl2 T A 3: 148,534,119 (GRCm39) N1036I probably damaging Het
Ak5 A G 3: 152,361,511 (GRCm39) V137A probably damaging Het
Aldh1a2 T C 9: 71,169,055 (GRCm39) V179A probably damaging Het
Ap2b1 A T 11: 83,237,579 (GRCm39) I548F probably damaging Het
Arhgef10l A G 4: 140,292,550 (GRCm39) Y352H probably damaging Het
Atad5 C T 11: 79,986,524 (GRCm39) T537M possibly damaging Het
Atoh7 A G 10: 62,935,938 (GRCm39) K2E possibly damaging Het
BC061237 A G 14: 44,741,658 (GRCm39) I134V probably benign Het
Cadm1 T C 9: 47,701,136 (GRCm39) I141T probably damaging Het
Capn10 T C 1: 92,871,454 (GRCm39) S351P probably damaging Het
Cct6b T C 11: 82,654,959 (GRCm39) probably benign Het
Cd19 T C 7: 126,011,330 (GRCm39) T284A probably benign Het
Cfap53 A G 18: 74,432,253 (GRCm39) Y47C probably damaging Het
Cldn18 T C 9: 99,578,162 (GRCm39) M194V probably benign Het
Dgkb T A 12: 38,652,777 (GRCm39) Y721N probably damaging Het
Dmbt1 A G 7: 130,721,372 (GRCm39) Q1880R possibly damaging Het
Dock2 T C 11: 34,599,646 (GRCm39) N311S possibly damaging Het
Dpysl5 G T 5: 30,935,375 (GRCm39) M159I probably benign Het
Eif2b3 G A 4: 116,901,778 (GRCm39) G147E probably damaging Het
Fam193a A G 5: 34,597,796 (GRCm39) D531G probably benign Het
Fndc3b T C 3: 27,555,329 (GRCm39) probably benign Het
Foxe3 C A 4: 114,782,523 (GRCm39) A230S unknown Het
Gm5591 A T 7: 38,219,727 (GRCm39) V382E probably benign Het
Gm7995 A T 14: 42,132,228 (GRCm39) N21I probably damaging Het
Ipo8 G A 6: 148,676,547 (GRCm39) P981S probably benign Het
Kcnh8 A G 17: 53,104,486 (GRCm39) D161G probably benign Het
Krt71 A G 15: 101,645,180 (GRCm39) I377T possibly damaging Het
Krt75 A T 15: 101,476,767 (GRCm39) M374K probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lpcat1 A G 13: 73,662,029 (GRCm39) T409A probably benign Het
Lrch1 A T 14: 75,032,808 (GRCm39) I514K probably benign Het
Mc4r A C 18: 66,993,110 (GRCm39) M1R probably null Het
Mthfd1l A T 10: 3,978,466 (GRCm39) H442L probably damaging Het
Or5d38 T A 2: 87,954,718 (GRCm39) I204F probably damaging Het
Pdcd1lg2 T C 19: 29,423,553 (GRCm39) M199T probably benign Het
Pigg G A 5: 108,484,066 (GRCm39) V438M probably damaging Het
Pira12 T C 7: 3,898,365 (GRCm39) E319G probably benign Het
Ppfibp1 T A 6: 146,920,681 (GRCm39) probably null Het
Rbm15 T A 3: 107,239,372 (GRCm39) Y342F possibly damaging Het
Rhbdl1 A T 17: 26,054,116 (GRCm39) V278E probably damaging Het
Ryr3 T C 2: 112,465,669 (GRCm39) N4781S probably damaging Het
Scn7a A T 2: 66,525,206 (GRCm39) silent Het
Sohlh2 C A 3: 55,104,282 (GRCm39) A258D possibly damaging Het
Sstr4 T A 2: 148,237,782 (GRCm39) V131D possibly damaging Het
Tenm2 T C 11: 36,834,861 (GRCm39) T45A probably damaging Het
Tmem131l A T 3: 83,831,479 (GRCm39) F818I probably damaging Het
Trappc6b A G 12: 59,097,149 (GRCm39) F58L probably damaging Het
Vmn1r229 A T 17: 21,035,418 (GRCm39) H221L possibly damaging Het
Vmn1r33 T A 6: 66,588,783 (GRCm39) Y257F probably damaging Het
Wdfy3 T C 5: 101,993,231 (GRCm39) probably benign Het
Zfp446 C T 7: 12,713,564 (GRCm39) Q177* probably null Het
Zup1 A G 10: 33,795,301 (GRCm39) *552Q probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- AAGTATGTGCATAGAGTGTCACAC -3'
(R):5'- GGTCCTCTCAGAACGCAAAG -3'

Sequencing Primer
(F):5'- TGTCACACACAACCAGCATGG -3'
(R):5'- CAGAACGCAAAGACTCCTGTTTTTC -3'
Posted On 2021-08-31