Incidental Mutation 'R6738:Sfswap'
ID 530302
Institutional Source Beutler Lab
Gene Symbol Sfswap
Ensembl Gene ENSMUSG00000029439
Gene Name splicing factor SWAP
Synonyms Sfrs8, 1190005N23Rik, 6330437E22Rik
MMRRC Submission 044856-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6738 (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 129618505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 480 (K480E)
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: K480E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: K480E

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 unknown
Transcript: ENSMUST00000199215
AA Change: K9E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199925
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (55/55)
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
Abat C T 16: 8,420,300 (GRCm39) probably benign Het
Abl1 T C 2: 31,684,586 (GRCm39) Y454H probably damaging Het
Ambp A T 4: 63,067,711 (GRCm39) D166E probably benign Het
Amigo2 A G 15: 97,143,345 (GRCm39) V359A possibly damaging Het
Ankrd11 A T 8: 123,618,660 (GRCm39) S1710T probably damaging Het
Ankrd31 T C 13: 97,040,635 (GRCm39) S1713P possibly damaging Het
Arhgap45 A T 10: 79,863,431 (GRCm39) K758M probably damaging Het
Bclaf1 T C 10: 20,199,515 (GRCm39) I304T possibly damaging Het
C1ra A G 6: 124,494,718 (GRCm39) Y327C probably damaging Het
Ccdc73 C T 2: 104,822,433 (GRCm39) S794L probably benign Het
Cd24a A G 10: 43,458,672 (GRCm39) N48D possibly damaging Het
Col11a1 A G 3: 113,906,116 (GRCm39) probably benign Het
Cyp11b2 G A 15: 74,725,363 (GRCm39) T252I possibly damaging Het
Dlx2 A G 2: 71,376,406 (GRCm39) Y111H probably benign Het
Dsp T C 13: 38,376,186 (GRCm39) S1324P possibly damaging Het
Esyt3 A T 9: 99,202,346 (GRCm39) F522I probably damaging Het
Fam193b C T 13: 55,698,174 (GRCm39) A45T probably benign Het
Flnb A G 14: 7,904,536 (GRCm38) T980A probably benign Het
Gabrb2 G T 11: 42,484,758 (GRCm39) A272S possibly damaging Het
H2al2a G T 2: 18,001,429 (GRCm39) Q86K possibly damaging Het
Ikbkb T G 8: 23,165,052 (GRCm39) I243L probably damaging Het
Il18r1 A G 1: 40,537,816 (GRCm39) E527G probably benign Het
Krt35 A T 11: 99,984,535 (GRCm39) V320D probably damaging Het
Krt76 C T 15: 101,795,913 (GRCm39) R419H probably benign Het
Lrp2 T A 2: 69,288,832 (GRCm39) Y3678F probably damaging Het
Mab21l4 G A 1: 93,087,707 (GRCm39) L49F probably benign Het
Mnat1 T G 12: 73,319,246 (GRCm39) S290A probably benign Het
Mptx2 T C 1: 173,102,422 (GRCm39) E89G probably benign Het
Myom1 T A 17: 71,407,393 (GRCm39) probably null Het
Naaladl2 A G 3: 24,225,806 (GRCm39) V541A probably benign Het
Nbeal2 T C 9: 110,465,973 (GRCm39) T851A possibly damaging Het
Ncoa4 A G 14: 31,892,750 (GRCm39) Y11C probably benign Het
Ntn5 T A 7: 45,343,780 (GRCm39) probably null Het
Or10d4c A G 9: 39,557,957 (GRCm39) probably benign Het
Or1j18 C T 2: 36,624,444 (GRCm39) T37I probably benign Het
Otop2 A G 11: 115,220,318 (GRCm39) Y386C probably damaging Het
Ppp2r1a T A 17: 21,174,979 (GRCm39) probably null Het
Prkd2 C A 7: 16,599,830 (GRCm39) N764K possibly damaging Het
Ralgapa1 A G 12: 55,809,512 (GRCm39) L421S probably damaging Het
Ric3 G A 7: 108,647,269 (GRCm39) R184* probably null Het
Siah2 A G 3: 58,598,974 (GRCm39) V88A probably benign Het
Slc22a16 T C 10: 40,461,298 (GRCm39) F367L probably damaging Het
Slc23a2 T C 2: 131,920,356 (GRCm39) D183G probably benign Het
Svep1 T C 4: 58,123,180 (GRCm39) N712S possibly damaging Het
Tex21 A G 12: 76,286,283 (GRCm39) V72A probably benign Het
Tfap4 A G 16: 4,367,311 (GRCm39) Y184H probably damaging Het
Timeless T C 10: 128,076,504 (GRCm39) Y138H probably damaging Het
Tln2 A T 9: 67,293,946 (GRCm39) N227K possibly damaging Het
Trip10 C T 17: 57,563,899 (GRCm39) P342S probably benign Het
Ttc6 A T 12: 57,735,426 (GRCm39) E1156V probably damaging Het
Ttn T C 2: 76,728,472 (GRCm39) probably benign Het
Vmn2r109 G A 17: 20,774,785 (GRCm39) S190L possibly damaging Het
Wdr54 A G 6: 83,132,109 (GRCm39) S99P probably damaging Het
Ythdf2 A C 4: 131,932,272 (GRCm39) I296R probably benign Het
Zfp445 A G 9: 122,691,123 (GRCm39) V24A 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
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'- CTGAACCTGAAAGGACCCTC -3'
(R):5'- TGTCTACGTAAAGATAGTCCAGGG -3'

Sequencing Primer
(F):5'- TGAAAGGACCCTCCAGCTG -3'
(R):5'- TACGTAAAGATAGTCCAGGGAAGATG -3'
Posted On 2018-08-01