Incidental Mutation 'R5355:Sfswap'
ID 424035
Institutional Source Beutler Lab
Gene Symbol Sfswap
Ensembl Gene ENSMUSG00000029439
Gene Name splicing factor SWAP
Synonyms Sfrs8, 1190005N23Rik, 6330437E22Rik
MMRRC Submission 042934-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5355 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 129578286-129648448 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129616810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 418 (T418I)
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: T418I

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: T418I

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
Meta Mutation Damage Score 0.0928 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 94% (50/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,776,873 (GRCm39) L857P probably damaging Het
Adam12 T C 7: 133,489,671 (GRCm39) *582W probably null Het
Adra1d A G 2: 131,403,007 (GRCm39) V361A probably damaging Het
Ank2 A G 3: 126,737,698 (GRCm39) probably benign Het
Atxn10 T A 15: 85,346,515 (GRCm39) N424K probably damaging Het
C8b A G 4: 104,637,860 (GRCm39) T111A probably benign Het
Ccdc168 A C 1: 44,097,139 (GRCm39) C1320G possibly damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdr2l T C 11: 115,284,396 (GRCm39) V244A possibly damaging Het
Col11a2 A G 17: 34,270,775 (GRCm39) M468V probably benign Het
Col4a2 G A 8: 11,495,984 (GRCm39) R1535H probably damaging Het
Cryab A T 9: 50,664,751 (GRCm39) S59C probably damaging Het
Cuzd1 G A 7: 130,917,853 (GRCm39) T249I probably damaging Het
Disp2 G A 2: 118,617,392 (GRCm39) V129M probably benign Het
Dlg2 G T 7: 91,099,011 (GRCm39) R31L probably benign Het
Dthd1 A C 5: 62,996,730 (GRCm39) L488F probably damaging Het
Dusp29 G A 14: 21,727,091 (GRCm39) R186W probably benign Het
Fat2 T G 11: 55,172,992 (GRCm39) I2574L probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fryl T C 5: 73,231,247 (GRCm39) D1610G probably damaging Het
Gm10330 T A 12: 23,830,131 (GRCm39) N17Y probably damaging Het
Gm4787 T A 12: 81,424,239 (GRCm39) R640* probably null Het
H2bc13 A T 13: 21,900,030 (GRCm39) I95N probably damaging Het
Ift88 T A 14: 57,675,699 (GRCm39) S71T probably benign Het
Isoc2b A G 7: 4,852,357 (GRCm39) probably benign Het
Itgb2 G T 10: 77,393,886 (GRCm39) R442L probably benign Het
Lama5 A T 2: 179,823,444 (GRCm39) N2658K possibly damaging Het
Lemd3 A T 10: 120,769,538 (GRCm39) I598K probably damaging Het
Lrp2 A T 2: 69,285,182 (GRCm39) C3825* probably null Het
Mep1a T C 17: 43,788,037 (GRCm39) D673G probably damaging Het
Met A G 6: 17,491,361 (GRCm39) Y41C probably damaging Het
Mfn2 A G 4: 147,979,035 (GRCm39) V99A probably damaging Het
Mmadhc A G 2: 50,181,436 (GRCm39) I78T probably benign Het
Mmp9 C A 2: 164,792,912 (GRCm39) P389T possibly damaging Het
Mvk T G 5: 114,590,499 (GRCm39) S7A probably damaging Het
Nlrp1a T A 11: 71,015,077 (GRCm39) T58S probably benign Het
Nlrp1c-ps C A 11: 71,148,839 (GRCm39) noncoding transcript Het
Nr1h3 A G 2: 91,022,253 (GRCm39) I125T possibly damaging Het
Or2a55-ps1 C T 6: 43,071,598 (GRCm39) noncoding transcript Het
Or8k39 A T 2: 86,563,680 (GRCm39) I92K probably damaging Het
Parn A G 16: 13,485,886 (GRCm39) I3T possibly damaging Het
Parp8 A G 13: 116,998,740 (GRCm39) probably null Het
Parva T C 7: 112,143,475 (GRCm39) probably null Het
Pwp2 A C 10: 78,011,378 (GRCm39) I672M possibly damaging Het
Slc6a3 A G 13: 73,709,078 (GRCm39) Y334C probably damaging Het
Slc7a13 C A 4: 19,839,267 (GRCm39) T290K probably benign Het
Spry2 A G 14: 106,130,712 (GRCm39) L158P probably damaging Het
Usp25 A G 16: 76,847,342 (GRCm39) E150G probably damaging Het
Zfp747 A G 7: 126,973,769 (GRCm39) F134L possibly damaging Het
Zp3r A G 1: 130,524,518 (GRCm39) F175S probably benign Het
Zscan22 C A 7: 12,640,435 (GRCm39) N67K 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
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
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'- GCCAGTAGCTGTTCATACTGTGG -3'
(R):5'- GAATAAGAGCCATGCTAACTCTG -3'

Sequencing Primer
(F):5'- TTTCTTACAGCAACTGTGGCAG -3'
(R):5'- CCATGCTAACTCTGGAGATGCAG -3'
Posted On 2016-08-04