Incidental Mutation 'R5139:Sfswap'
ID 396343
Institutional Source Beutler Lab
Gene Symbol Sfswap
Ensembl Gene ENSMUSG00000029439
Gene Name splicing factor SWAP
Synonyms Sfrs8, 1190005N23Rik, 6330437E22Rik
MMRRC Submission 042725-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5139 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 129578286-129648448 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 129648073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 927 (M927R)
Ref Sequence ENSEMBL: ENSMUSP00000062413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053737] [ENSMUST00000196698]
AlphaFold Q3USH5
Predicted Effect possibly damaging
Transcript: ENSMUST00000053737
AA Change: M927R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: M927R

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: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.0%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T C 4: 148,029,905 (GRCm39) L625P probably damaging Het
Agtpbp1 A G 13: 59,648,027 (GRCm39) S598P probably damaging Het
Ahnak A C 19: 8,982,019 (GRCm39) D1101A probably damaging Het
Aoah T C 13: 21,207,407 (GRCm39) V542A possibly damaging Het
Aox1 T C 1: 58,100,456 (GRCm39) S418P probably benign Het
Appl1 A G 14: 26,669,112 (GRCm39) I354T probably benign Het
BC035947 T C 1: 78,475,884 (GRCm39) E216G possibly damaging Het
Bnip3l A G 14: 67,237,064 (GRCm39) S63P probably damaging Het
Cckar T C 5: 53,860,265 (GRCm39) N188S probably benign Het
Ccl24 C T 5: 135,601,775 (GRCm39) A18T probably benign Het
Cmya5 A G 13: 93,232,569 (GRCm39) C840R probably benign Het
Copa C T 1: 171,948,896 (GRCm39) R1183W probably damaging Het
Dnah10 T C 5: 124,876,024 (GRCm39) V2621A probably damaging Het
Fryl A G 5: 73,248,061 (GRCm39) Y1019H probably damaging Het
Hira T C 16: 18,773,508 (GRCm39) Y943H probably damaging Het
Ighv3-8 T C 12: 114,285,994 (GRCm39) Y116C probably damaging Het
Igkv4-70 G A 6: 69,245,089 (GRCm39) T44I probably damaging Het
Lce3c G A 3: 92,852,778 (GRCm39) G80S unknown Het
Ldhb A T 6: 142,439,921 (GRCm39) N206K probably damaging Het
Mical1 T A 10: 41,354,411 (GRCm39) probably null Het
Myh2 T C 11: 67,070,174 (GRCm39) L402P probably damaging Het
Naa15 T A 3: 51,351,261 (GRCm39) L144I probably damaging Het
Nbea T A 3: 55,534,384 (GRCm39) I2918F possibly damaging Het
Or5w11 C A 2: 87,459,000 (GRCm39) H64Q probably benign Het
Pdcd11 C A 19: 47,095,554 (GRCm39) S625R probably benign Het
Pdlim7 A G 13: 55,654,869 (GRCm39) S214P probably damaging Het
Polg T C 7: 79,099,773 (GRCm39) D49G probably damaging Het
Polr2f C A 15: 79,035,858 (GRCm39) D106E possibly damaging Het
Ppp6r3 A C 19: 3,514,610 (GRCm39) N766K probably damaging Het
Prl8a1 T A 13: 27,758,049 (GRCm39) D220V probably damaging Het
Qrfprl A T 6: 65,433,203 (GRCm39) N341I probably damaging Het
Septin9 A G 11: 117,247,511 (GRCm39) K497E possibly damaging Het
Smad9 T G 3: 54,704,827 (GRCm39) W400G possibly damaging Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Tcaf3 A G 6: 42,573,867 (GRCm39) V115A probably benign Het
Tesmin A G 19: 3,456,934 (GRCm39) I238V probably damaging Het
Trf C T 9: 103,100,133 (GRCm39) probably null Het
Trpc3 A T 3: 36,725,706 (GRCm39) M90K possibly damaging Het
Tshz3 C T 7: 36,470,450 (GRCm39) T813I probably benign Het
Tub T A 7: 108,610,309 (GRCm39) M1K probably null Het
Wdfy3 A T 5: 101,997,133 (GRCm39) probably null Het
Zfp853 T C 5: 143,274,570 (GRCm39) Q350R unknown 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
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'- TTGTACCCTCAGGCCACATG -3'
(R):5'- ATAGCTGCATGTAGGTCGGC -3'

Sequencing Primer
(F):5'- TCAGGCCACATGGGGTCAC -3'
(R):5'- TGCATGTAGGTCGGCAGAGC -3'
Posted On 2016-06-21