Incidental Mutation 'R9119:Sfswap'
ID 692674
Institutional Source Beutler Lab
Gene Symbol Sfswap
Ensembl Gene ENSMUSG00000029439
Gene Name splicing factor SWAP
Synonyms Sfrs8, 1190005N23Rik, 6330437E22Rik
MMRRC Submission 068922-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9119 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 129578286-129648448 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 129591829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 282 (T282N)
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: T282N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: T282N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (42/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik C G 17: 36,203,963 (GRCm39) S185T probably benign Het
Aass A T 6: 23,094,000 (GRCm39) M517K probably benign Het
Abcc4 A G 14: 118,868,442 (GRCm39) V245A probably benign Het
Adgrv1 A G 13: 81,658,995 (GRCm39) V2783A probably damaging Het
Anxa3 T A 5: 96,976,557 (GRCm39) I181N Het
Ap4m1 T A 5: 138,174,303 (GRCm39) probably benign Het
C1ql1 T A 11: 102,836,879 (GRCm39) K137* probably null Het
Camkmt T A 17: 85,403,988 (GRCm39) L70Q probably damaging Het
Ceacam18 T C 7: 43,288,909 (GRCm39) L220P probably benign Het
Celsr2 C T 3: 108,309,288 (GRCm39) A1656T possibly damaging Het
Dnah6 T C 6: 73,037,186 (GRCm39) N3352S possibly damaging Het
Fbxo40 C A 16: 36,786,457 (GRCm39) R704L probably damaging Het
Fcho1 C T 8: 72,164,712 (GRCm39) G523E possibly damaging Het
Gas2l3 T C 10: 89,249,319 (GRCm39) T600A possibly damaging Het
Ggh T A 4: 20,057,955 (GRCm39) M172K probably damaging Het
Gpr137 G A 19: 6,915,811 (GRCm39) T373I probably benign Het
Kpna2rt T C 17: 90,217,621 (GRCm39) K42E probably damaging Het
Mtnr1a G A 8: 45,541,003 (GRCm39) M321I probably benign Het
Nebl T G 2: 17,405,370 (GRCm39) N383T probably damaging Het
Nob1 A G 8: 108,142,776 (GRCm39) S302P probably damaging Het
Ofcc1 A T 13: 40,334,016 (GRCm39) H358Q probably benign Het
Or6b3 G T 1: 92,438,904 (GRCm39) T282K probably damaging Het
Pkd1l1 G A 11: 8,829,107 (GRCm39) T1495I Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plcb4 G A 2: 135,809,872 (GRCm39) E609K probably damaging Het
Plxnd1 A T 6: 115,932,832 (GRCm39) probably benign Het
Prdm2 G A 4: 142,858,449 (GRCm39) Q1614* probably null Het
Psg21 T G 7: 18,381,409 (GRCm39) K378T probably benign Het
Ptprh T A 7: 4,555,712 (GRCm39) N749I probably benign Het
Ric8b T G 10: 84,783,334 (GRCm39) V64G possibly damaging Het
Sbf2 T C 7: 109,911,292 (GRCm39) T1793A possibly damaging Het
Scgb1c1 A G 7: 140,426,135 (GRCm39) H77R probably null Het
Sorcs3 A T 19: 48,642,433 (GRCm39) Y362F possibly damaging Het
Spata31h1 T C 10: 82,131,553 (GRCm39) T486A probably benign Het
Tpm4 A G 8: 72,892,525 (GRCm39) N76D probably benign Het
Tpr T A 1: 150,279,753 (GRCm39) L294Q probably damaging Het
Ttc3 C T 16: 94,192,950 (GRCm39) T237I probably damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ugt2a2 A G 5: 87,610,834 (GRCm39) V334A probably damaging Het
Usp38 A T 8: 81,711,228 (GRCm39) F936I probably damaging Het
Utp14b A G 1: 78,643,025 (GRCm39) K308E probably damaging Het
Vmn2r19 C T 6: 123,292,527 (GRCm39) P190S possibly damaging Het
Zbbx T C 3: 74,985,897 (GRCm39) E385G probably damaging 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
R8943:Sfswap UTSW 5 129,581,168 (GRCm39) missense probably damaging 1.00
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'- GGGACCCAAATATTTACATGTATGTG -3'
(R):5'- GCAGGCTTTGTGTTTCCAAAC -3'

Sequencing Primer
(F):5'- AAGCCAAGGTTTTGAGTCCC -3'
(R):5'- CAGGCTTTGTGTTTCCAAACGTAAAG -3'
Posted On 2021-12-30