Incidental Mutation 'R0415:Sfswap'
ID 40226
Institutional Source Beutler Lab
Gene Symbol Sfswap
Ensembl Gene ENSMUSG00000029439
Gene Name splicing factor SWAP
Synonyms Sfrs8, 6330437E22Rik, 1190005N23Rik
MMRRC Submission 038617-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0415 (G1)
Quality Score 149
Status Validated
Chromosome 5
Chromosomal Location 129501221-129571384 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129504126 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 121 (D121V)
Ref Sequence ENSEMBL: ENSMUSP00000062413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053737] [ENSMUST00000196698] [ENSMUST00000200500]
AlphaFold Q3USH5
Predicted Effect probably damaging
Transcript: ENSMUST00000053737
AA Change: D121V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: D121V

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: ENSMUST00000196147
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: ENSMUST00000198423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199925
Predicted Effect probably benign
Transcript: ENSMUST00000200500
SMART Domains Protein: ENSMUSP00000143351
Gene: ENSMUSG00000029439

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200662
Meta Mutation Damage Score 0.6520 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 97% (99/102)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427G23Rik A T 5: 23,831,050 (GRCm38) noncoding transcript Het
Acox2 A G 14: 8,243,835 (GRCm38) probably benign Het
Adgb T C 10: 10,431,067 (GRCm38) probably null Het
Adgra3 C A 5: 49,961,757 (GRCm38) probably benign Het
Adgre4 G A 17: 55,852,288 (GRCm38) V658I probably benign Het
Ahnak A G 19: 9,012,871 (GRCm38) probably benign Het
Anapc2 A G 2: 25,278,325 (GRCm38) T159A probably damaging Het
Arfgef3 A G 10: 18,613,127 (GRCm38) probably benign Het
Atf7ip C T 6: 136,560,012 (GRCm38) S81L possibly damaging Het
Cacna1i A G 15: 80,368,830 (GRCm38) probably benign Het
Camk1 A T 6: 113,341,891 (GRCm38) Y20* probably null Het
Ccdc40 T C 11: 119,232,118 (GRCm38) Y249H possibly damaging Het
Cd109 T A 9: 78,712,615 (GRCm38) S1380T probably benign Het
Cfap57 A T 4: 118,569,431 (GRCm38) L1107Q possibly damaging Het
Col6a4 C T 9: 106,075,080 (GRCm38) V540I probably damaging Het
Cst9 T A 2: 148,838,442 (GRCm38) probably benign Het
Cul5 C T 9: 53,667,070 (GRCm38) V73I probably benign Het
Cxcl16 T A 11: 70,458,748 (GRCm38) K84* probably null Het
Cyp2c29 T C 19: 39,329,095 (GRCm38) probably benign Het
D6Ertd527e C G 6: 87,111,524 (GRCm38) T223S unknown Het
Dip2c C T 13: 9,568,289 (GRCm38) probably benign Het
Dis3 A T 14: 99,087,456 (GRCm38) I513N probably damaging Het
Dnajc16 A T 4: 141,789,048 (GRCm38) L3* probably null Het
Dopey1 T A 9: 86,506,502 (GRCm38) L480M probably damaging Het
Eml6 A G 11: 29,749,392 (GRCm38) V1787A possibly damaging Het
Etnk1 A G 6: 143,180,774 (GRCm38) N115S probably damaging Het
Fryl T C 5: 73,098,414 (GRCm38) Y758C probably damaging Het
Gbp4 G A 5: 105,121,106 (GRCm38) R394C possibly damaging Het
Ggnbp2 A C 11: 84,833,225 (GRCm38) probably benign Het
Gm7137 A G 10: 77,788,173 (GRCm38) probably benign Het
Gstm2 T A 3: 107,984,006 (GRCm38) Q132L probably benign Het
Habp2 T C 19: 56,317,717 (GRCm38) probably benign Het
Hectd2 T C 19: 36,584,884 (GRCm38) probably benign Het
Htr6 A G 4: 139,062,081 (GRCm38) I291T possibly damaging Het
Ighg2c T C 12: 113,287,910 (GRCm38) D199G unknown Het
Itih2 A G 2: 10,105,615 (GRCm38) probably benign Het
Kcnab2 A G 4: 152,395,136 (GRCm38) F248S probably benign Het
Kcnc4 T C 3: 107,445,433 (GRCm38) K610E probably damaging Het
Kcnk16 T A 14: 20,262,975 (GRCm38) probably null Het
Kndc1 C T 7: 139,930,124 (GRCm38) T1293I probably damaging Het
Lcp1 A T 14: 75,227,006 (GRCm38) I556F possibly damaging Het
Lrrc8d T C 5: 105,811,865 (GRCm38) L47P probably damaging Het
Lyst T C 13: 13,711,610 (GRCm38) probably benign Het
Macrod2 G A 2: 142,210,145 (GRCm38) probably null Het
Micalcl C T 7: 112,381,028 (GRCm38) R70C probably damaging Het
Mllt3 ACTGCTGCTGCTGCTGCTGCT ACTGCTGCTGCTGCTGCT 4: 87,841,339 (GRCm38) probably benign Het
Msh3 A G 13: 92,346,786 (GRCm38) V283A possibly damaging Het
Nup205 T C 6: 35,214,634 (GRCm38) probably benign Het
Nxpe2 T C 9: 48,326,614 (GRCm38) T114A probably damaging Het
Olfr1023 A T 2: 85,887,438 (GRCm38) I213F possibly damaging Het
Olfr1034 A T 2: 86,047,055 (GRCm38) H191L probably benign Het
Olfr229 A G 9: 39,909,983 (GRCm38) Y60C probably damaging Het
Olfr78 C T 7: 102,742,087 (GRCm38) M305I probably benign Het
Olfr893 A T 9: 38,209,973 (GRCm38) M305L probably benign Het
Pard3 G A 8: 127,610,566 (GRCm38) G1221D probably damaging Het
Pax5 G A 4: 44,691,886 (GRCm38) A120V probably damaging Het
Pcsk6 C T 7: 66,033,874 (GRCm38) R746C probably damaging Het
Pif1 G A 9: 65,588,051 (GRCm38) C81Y probably benign Het
Plcb1 A G 2: 135,337,499 (GRCm38) Y609C probably damaging Het
Plcd4 C A 1: 74,552,097 (GRCm38) S217Y probably damaging Het
Plxna1 G A 6: 89,357,336 (GRCm38) H104Y probably benign Het
Polr2k A G 15: 36,175,456 (GRCm38) Y45C probably damaging Het
Pqlc3 C A 12: 16,997,710 (GRCm38) probably benign Het
Prex1 A G 2: 166,586,699 (GRCm38) probably benign Het
Pth2r A G 1: 65,388,439 (GRCm38) M424V probably benign Het
Pygm A G 19: 6,391,366 (GRCm38) R464G probably benign Het
Rad51c A G 11: 87,397,655 (GRCm38) L234P probably damaging Het
Rnf145 A G 11: 44,525,138 (GRCm38) Y60C probably damaging Het
Rnf167 T C 11: 70,649,699 (GRCm38) I135T probably damaging Het
Rnf213 A T 11: 119,414,469 (GRCm38) I509F probably damaging Het
Ryr2 T C 13: 11,869,156 (GRCm38) S213G probably damaging Het
Selenbp1 T C 3: 94,936,913 (GRCm38) V27A possibly damaging Het
Selenof T G 3: 144,577,692 (GRCm38) L14R probably damaging Het
Slc25a34 C A 4: 141,620,469 (GRCm38) M300I possibly damaging Het
Slc34a3 T G 2: 25,229,110 (GRCm38) T583P probably benign Het
Smg1 C A 7: 118,182,468 (GRCm38) A1199S probably benign Het
Spint1 A G 2: 119,245,615 (GRCm38) T231A probably damaging Het
Sptbn1 A C 11: 30,149,576 (GRCm38) N229K probably damaging Het
Sult2b1 A G 7: 45,730,092 (GRCm38) probably benign Het
Tas2r123 A T 6: 132,847,838 (GRCm38) M233L probably damaging Het
Tbcel C A 9: 42,444,500 (GRCm38) C139F probably benign Het
Thbs2 A C 17: 14,679,973 (GRCm38) S573A probably benign Het
Tmem132c A G 5: 127,563,705 (GRCm38) E980G probably damaging Het
Tmem247 G T 17: 86,922,322 (GRCm38) C197F probably damaging Het
Tmem251 T A 12: 102,744,876 (GRCm38) Y119* probably null Het
Tmem43 C A 6: 91,482,318 (GRCm38) P257Q probably benign Het
Tmprss13 A G 9: 45,337,132 (GRCm38) probably null Het
Trove2 G T 1: 143,760,075 (GRCm38) N444K probably benign Het
Ubr5 T C 15: 37,972,980 (GRCm38) T2626A probably damaging Het
Vmn1r196 T A 13: 22,293,836 (GRCm38) V215D probably damaging Het
Vmn1r22 G T 6: 57,900,332 (GRCm38) T220K probably benign Het
Vmn2r116 G A 17: 23,387,279 (GRCm38) M388I possibly damaging Het
Vmn2r74 A C 7: 85,961,410 (GRCm38) C25G probably damaging Het
Xndc1 T C 7: 102,080,616 (GRCm38) probably benign Het
Zfp282 A G 6: 47,897,881 (GRCm38) D340G probably damaging Het
Zfp282 T A 6: 47,905,053 (GRCm38) I558N possibly damaging Het
Zfp316 T A 5: 143,264,491 (GRCm38) T56S unknown Het
Zfp345 A G 2: 150,474,559 (GRCm38) probably benign Het
Other mutations in Sfswap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00740:Sfswap APN 5 129,513,233 (GRCm38) missense probably damaging 1.00
IGL02064:Sfswap APN 5 129,560,796 (GRCm38) missense probably benign 0.17
IGL02083:Sfswap APN 5 129,539,791 (GRCm38) missense probably benign
IGL02378:Sfswap APN 5 129,539,604 (GRCm38) missense probably damaging 1.00
FR4340:Sfswap UTSW 5 129,569,751 (GRCm38) unclassified probably benign
FR4342:Sfswap UTSW 5 129,569,757 (GRCm38) unclassified probably benign
FR4449:Sfswap UTSW 5 129,569,749 (GRCm38) unclassified probably benign
FR4449:Sfswap UTSW 5 129,569,748 (GRCm38) unclassified probably benign
FR4548:Sfswap UTSW 5 129,569,755 (GRCm38) unclassified probably benign
FR4548:Sfswap UTSW 5 129,569,749 (GRCm38) unclassified probably benign
FR4737:Sfswap UTSW 5 129,569,756 (GRCm38) unclassified probably benign
FR4976:Sfswap UTSW 5 129,569,751 (GRCm38) unclassified probably benign
I1329:Sfswap UTSW 5 129,507,137 (GRCm38) unclassified probably benign
P0033:Sfswap UTSW 5 129,539,755 (GRCm38) missense possibly damaging 0.60
R0184:Sfswap UTSW 5 129,507,189 (GRCm38) missense probably damaging 0.97
R0233:Sfswap UTSW 5 129,554,543 (GRCm38) missense possibly damaging 0.82
R0233:Sfswap UTSW 5 129,554,543 (GRCm38) missense possibly damaging 0.82
R0414:Sfswap UTSW 5 129,504,051 (GRCm38) missense possibly damaging 0.83
R0570:Sfswap UTSW 5 129,503,978 (GRCm38) splice site probably benign
R1018:Sfswap UTSW 5 129,554,576 (GRCm38) missense possibly damaging 0.91
R1173:Sfswap UTSW 5 129,507,143 (GRCm38) critical splice acceptor site probably null
R1298:Sfswap UTSW 5 129,541,378 (GRCm38) missense probably benign 0.14
R1723:Sfswap UTSW 5 129,539,694 (GRCm38) missense probably benign
R1783:Sfswap UTSW 5 129,513,240 (GRCm38) missense possibly damaging 0.92
R1828:Sfswap UTSW 5 129,513,084 (GRCm38) missense probably damaging 1.00
R1879:Sfswap UTSW 5 129,541,328 (GRCm38) missense probably benign 0.01
R2078:Sfswap UTSW 5 129,516,107 (GRCm38) missense possibly damaging 0.81
R2349:Sfswap UTSW 5 129,569,738 (GRCm38) missense possibly damaging 0.87
R3757:Sfswap UTSW 5 129,513,234 (GRCm38) missense probably damaging 1.00
R4093:Sfswap UTSW 5 129,560,741 (GRCm38) missense possibly damaging 0.85
R4094:Sfswap UTSW 5 129,560,741 (GRCm38) missense possibly damaging 0.85
R4095:Sfswap UTSW 5 129,560,741 (GRCm38) missense possibly damaging 0.85
R4785:Sfswap UTSW 5 129,513,083 (GRCm38) missense probably damaging 1.00
R5139:Sfswap UTSW 5 129,571,009 (GRCm38) missense possibly damaging 0.73
R5355:Sfswap UTSW 5 129,539,746 (GRCm38) missense probably benign 0.09
R5481:Sfswap UTSW 5 129,514,818 (GRCm38) missense probably damaging 0.98
R5600:Sfswap UTSW 5 129,513,158 (GRCm38) missense probably damaging 1.00
R5686:Sfswap UTSW 5 129,514,818 (GRCm38) missense probably damaging 0.98
R5906:Sfswap UTSW 5 129,542,043 (GRCm38) missense probably benign 0.22
R6332:Sfswap UTSW 5 129,571,041 (GRCm38) missense possibly damaging 0.91
R6738:Sfswap UTSW 5 129,541,441 (GRCm38) missense probably damaging 0.98
R6743:Sfswap UTSW 5 129,550,819 (GRCm38) nonsense probably null
R7371:Sfswap UTSW 5 129,543,241 (GRCm38) missense probably benign 0.01
R7747:Sfswap UTSW 5 129,550,593 (GRCm38) splice site probably null
R8286:Sfswap UTSW 5 129,539,719 (GRCm38) missense probably damaging 0.99
R8738:Sfswap UTSW 5 129,543,281 (GRCm38) missense possibly damaging 0.52
R8943:Sfswap UTSW 5 129,504,104 (GRCm38) missense probably damaging 1.00
R9119:Sfswap UTSW 5 129,514,765 (GRCm38) missense probably benign
R9587:Sfswap UTSW 5 129,541,363 (GRCm38) missense probably benign 0.00
R9601:Sfswap UTSW 5 129,541,399 (GRCm38) missense possibly damaging 0.94
R9718:Sfswap UTSW 5 129,539,784 (GRCm38) missense probably benign
RF003:Sfswap UTSW 5 129,569,764 (GRCm38) unclassified probably benign
RF042:Sfswap UTSW 5 129,569,743 (GRCm38) unclassified probably benign
RF049:Sfswap UTSW 5 129,569,744 (GRCm38) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ATGGGTGTAGACTTCCCTCCAGTG -3'
(R):5'- CTGCCCTCAAAAGCTGGGAAAATTC -3'

Sequencing Primer
(F):5'- AGTGACCAGCCTGTTCACATTAC -3'
(R):5'- TATCCTGAGGTCCTCTCAGAACG -3'
Posted On 2013-05-23