Incidental Mutation 'FR4342:Sfswap'
ID 511235
Institutional Source Beutler Lab
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 # FR4342 ()
Quality Score 215.098
Status Not validated
Chromosome 5
Chromosomal Location 129578286-129648448 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) CCCACTC to CCCACTCAGACCACTC at 129646821 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053737] [ENSMUST00000196698]
AlphaFold Q3USH5
Predicted Effect probably benign
Transcript: ENSMUST00000053737
SMART Domains Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439

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 noncoding transcript
Transcript: ENSMUST00000195961
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 noncoding transcript
Transcript: ENSMUST00000196873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199925
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.4%
  • 10x: 97.8%
  • 20x: 93.8%
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: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik TT TTATGT 8: 125,566,572 (GRCm39) probably null Homo
4930433I11Rik AACC A 7: 40,642,479 (GRCm39) probably benign Het
7530416G11Rik T A 15: 85,378,508 (GRCm39) E45V unknown Homo
Ankrd35 TCCCC TCCC 3: 96,590,831 (GRCm39) probably null Het
Anxa2 CCC CCCACC 9: 69,387,487 (GRCm39) probably benign Het
Anxa2 C CCCA 9: 69,387,492 (GRCm39) probably benign Het
Apc CAATAAAGC CAATAAAGCAAATAAAGC 18: 34,415,052 (GRCm39) probably benign Homo
Arrb2 C T 11: 70,329,497 (GRCm39) T269M probably damaging Homo
Bcas3 G A 11: 85,400,323 (GRCm39) V431I probably benign Homo
Begain CCCCGCC CCCCGCCCCCGCC 12: 108,999,344 (GRCm39) probably benign Homo
Catsper2 TCA TCAACA 2: 121,228,274 (GRCm39) probably benign Het
Ccdc121 GAGAAG GAG 5: 31,644,717 (GRCm39) probably benign Homo
Cd164 G T 10: 41,397,922 (GRCm39) A59S probably benign Homo
Cd22 C T 7: 30,577,507 (GRCm39) R2H possibly damaging Homo
Cimip2b CAGAG CAG 4: 43,427,384 (GRCm39) probably null Homo
Cluh GAGCCT GAGCCTCAGCCT 11: 74,560,350 (GRCm39) probably benign Het
Cluh GCCTGA GCCTGAACCTGA 11: 74,560,352 (GRCm39) probably benign Het
Cntnap1 AGCCCC AGCCCCCGCCCC 11: 101,080,401 (GRCm39) probably benign Het
Col2a1 C A 15: 97,886,862 (GRCm39) probably null Het
Col6a5 A T 9: 105,811,373 (GRCm39) N715K unknown Homo
Cpeb4 T TGA 11: 31,877,638 (GRCm39) probably benign Homo
Dbr1 AGGAGG AGGAGGGGGAGG 9: 99,465,733 (GRCm39) probably benign Het
Defa29 C G 8: 21,816,160 (GRCm39) R69P probably benign Het
Dhx8 CG CGAGAACGG 11: 101,629,032 (GRCm39) probably null Het
Dnaaf9 TCC TCCCCC 2: 130,612,662 (GRCm39) probably benign Het
Dnah12 G T 14: 26,571,342 (GRCm39) G2817V probably damaging Homo
Dthd1 C CTTA 5: 63,000,369 (GRCm39) probably benign Homo
E4f1 GC GCCCC 17: 24,674,171 (GRCm39) probably benign Het
F830016B08Rik A ACAG 18: 60,433,013 (GRCm39) probably benign Homo
Fbrsl1 GTGTGTGTGCTGGTGCGTGTGCTGGTG GTGTGTGTGCTGGTGTGTGTGCTGGTGCGTGTGCTGGTG 5: 110,525,991 (GRCm39) probably benign Het
Fbxo22 A C 9: 55,128,354 (GRCm39) probably null Het
Flg G A 3: 93,197,820 (GRCm39) probably benign Het
Fmn1 TCC TCCTCCACC 2: 113,356,128 (GRCm39) probably benign Homo
Frmpd2 G T 14: 33,232,978 (GRCm39) L399F probably damaging Homo
Gbp2b A G 3: 142,309,413 (GRCm39) I175V probably benign Het
Gjc2 T TCCCG 11: 59,073,569 (GRCm39) probably benign Homo
Gm14496 A C 2: 181,637,699 (GRCm39) K258Q probably benign Het
Gm4340 CAGAAG CAGAAGAAG 10: 104,031,960 (GRCm39) probably benign Het
Gm4340 CAGAAG CAGAAGAAG 10: 104,031,927 (GRCm39) probably benign Het
Gpatch11 AGAGGA AGAGGATGAGGA 17: 79,149,607 (GRCm39) probably benign Het
H1f6 TGTGG TG 13: 23,879,896 (GRCm39) probably benign Homo
H2-Q4 G A 17: 35,599,381 (GRCm39) D155N probably damaging Homo
Hoxa3 G GCTT 6: 52,147,110 (GRCm39) probably benign Homo
Ifi208 ATGGTG ATG 1: 173,505,264 (GRCm39) probably benign Homo
Ighv5-9 C T 12: 113,625,497 (GRCm39) S82N probably benign Homo
Klra10 G A 6: 130,249,710 (GRCm39) R192C probably benign Het
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,285,800 (GRCm39) probably benign Het
Krt10 CGCC CGCCGCC 11: 99,277,025 (GRCm39) probably benign Het
Krt10 ACC ACCCCC 11: 99,277,029 (GRCm39) probably benign Homo
Lce1m CGCTGCTGCTGCCACAGCA C 3: 92,925,554 (GRCm39) probably benign Het
Mak16 T G,A 8: 31,651,777 (GRCm39) E203D probably benign Homo
Med12l AGC AGCGGC 3: 59,183,409 (GRCm39) probably benign Het
Med12l AGCGGC AGCGGCGGC 3: 59,183,415 (GRCm39) probably benign Het
Mn1 AGC AGCGGC 5: 111,567,572 (GRCm39) probably benign Het
Nacad TC TCAGGGGC 11: 6,549,762 (GRCm39) probably benign Het
Naip1 C T 13: 100,561,979 (GRCm39) R1062K probably benign Het
Ndel1 G A 11: 68,724,235 (GRCm39) P246L probably damaging Het
Nelfe AC ACAAAGAGCGGGATCGAGACAGAGCC 17: 35,073,065 (GRCm39) probably benign Het
Or51q1 TCC TCCC 7: 103,629,110 (GRCm39) probably null Het
Or5p70 G A 7: 107,995,105 (GRCm39) M259I probably benign Het
Or5p70 A G 7: 107,995,100 (GRCm39) T258A probably benign Het
P4ha2 GTGTTGCTG GTG 11: 54,001,077 (GRCm39) probably benign Homo
Pde3b GGTGGTGGTG GGTGGTGGTGGTG 7: 114,134,010 (GRCm39) probably benign Homo
Pdik1l ACCACC ACCACCCCCACC 4: 134,006,820 (GRCm39) probably benign Homo
Phaf1 G A 8: 105,967,730 (GRCm39) G207E probably benign Homo
Plekhs1 AGAC AGACCTCCCCCGCGAC 19: 56,468,293 (GRCm39) probably benign Homo
Plekhs1 TCCAGAC TCCAGACCTCCCCCCAGAC 19: 56,468,290 (GRCm39) probably benign Homo
Pramel16 AAGAG AAG 4: 143,676,327 (GRCm39) probably null Het
Pramel16 G A 4: 143,676,312 (GRCm39) T264M probably damaging Het
Pramel27 AA AATA 4: 143,578,213 (GRCm39) probably null Homo
Prkn G A 17: 12,073,650 (GRCm39) V323M probably damaging Homo
Ptms TCT TCTCCT 6: 124,891,417 (GRCm39) probably benign Homo
Raet1d A G 10: 22,247,458 (GRCm39) Q178R probably benign Het
Rtbdn AGCG AGCGCCGGCG 8: 85,682,797 (GRCm39) probably benign Het
Rtbdn GC GCAGCGCC 8: 85,682,807 (GRCm39) probably benign Het
Semp2l2a G C 8: 13,887,613 (GRCm39) H159Q probably benign Het
Serac1 T A 17: 6,121,083 (GRCm39) K70N probably damaging Homo
Sp110 ACT ACTGCT 1: 85,515,209 (GRCm39) probably benign Het
Spaca1 GCTCTC GCTCTCACTCTC 4: 34,049,838 (GRCm39) probably benign Het
Spag17 GGA GGATGA 3: 99,963,565 (GRCm39) probably benign Het
Spag17 GGAGGAGGA GGAGGAGGAGGA 3: 99,963,568 (GRCm39) probably benign Homo
Speer4a1 C A 5: 26,241,746 (GRCm39) E127* probably null Het
Sry GGT GGTTGT Y: 2,662,836 (GRCm39) probably benign Het
Sry TGG TGGGGG Y: 2,662,835 (GRCm39) probably benign Het
Sry CTGCTGGTG CTG Y: 2,663,146 (GRCm39) probably benign Het
Sry GGT GGTAGT Y: 2,662,839 (GRCm39) probably benign Homo
Tdpoz3 C T 3: 93,733,819 (GRCm39) P165S probably benign Het
Tdpoz4 GAA GA 3: 93,704,187 (GRCm39) probably null Het
Tert AGGCC AGGCCAAGGGGGCC 13: 73,796,419 (GRCm39) probably benign Homo
Tmbim7 C T 5: 3,720,064 (GRCm39) R100C possibly damaging Homo
Tnfrsf9 CT CTGAT 4: 151,018,851 (GRCm39) probably benign Homo
Tob1 AGC AGCCGC 11: 94,105,298 (GRCm39) probably benign Het
Trav6n-5 GCTT G 14: 53,342,369 (GRCm39) probably benign Homo
Triobp G GTCA 15: 78,877,592 (GRCm39) probably benign Homo
Tsen2 AGG AGGTGG 6: 115,537,033 (GRCm39) probably benign Het
Ubtf TCC TCCGCC 11: 102,197,782 (GRCm39) probably benign Het
Ubtf TC TCCCC 11: 102,197,785 (GRCm39) probably benign Het
Vmn2r125 G A 4: 156,703,260 (GRCm39) V213I probably benign Het
Vmn2r87 C T 10: 130,314,583 (GRCm39) M334I probably benign Homo
Zdhhc16 G A 19: 41,930,588 (GRCm39) probably benign Het
Zfp28 G A 7: 6,397,862 (GRCm39) G766R probably damaging Het
Zfp335 GTCGTC GTCGTCGTC 2: 164,749,385 (GRCm39) probably benign Het
Zfp335 C CCCC 2: 164,749,397 (GRCm39) probably benign Het
Zfp428 G A 7: 24,214,506 (GRCm39) D41N probably damaging Homo
Zfp429 A T 13: 67,544,769 (GRCm39) F48Y probably benign Het
Zfp598 CCACC CCACCCACACC 17: 24,899,754 (GRCm39) probably benign Het
Zfp93 G A 7: 23,975,011 (GRCm39) R332H possibly damaging Het
Zpld2 G GCTC 4: 133,929,942 (GRCm39) probably benign Homo
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
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
Predicted Primers PCR Primer
(F):5'- AATTGAGACTGCCCTCTTGTCG -3'
(R):5'- TGTCACTGAGTCCTGCATGG -3'

Sequencing Primer
(F):5'- GTCGAGCACTCCATGTACC -3'
(R):5'- CCCAGTAAGGCATGGGTTG -3'
Posted On 2018-04-05