Incidental Mutation 'R5906:Sfswap'
ID 460623
Institutional Source Beutler Lab
Gene Symbol Sfswap
Ensembl Gene ENSMUSG00000029439
Gene Name splicing factor SWAP
Synonyms Sfrs8, 1190005N23Rik, 6330437E22Rik
MMRRC Submission 044103-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5906 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 129578286-129648448 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 129619107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 486 (E486K)
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: E486K

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: E486K

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: E15K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199925
Meta Mutation Damage Score 0.0844 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 92.4%
Validation Efficiency 95% (81/85)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik C A 11: 58,182,260 (GRCm39) probably null Het
9130023H24Rik G A 7: 127,835,664 (GRCm39) P310S probably benign Het
Abcc10 G T 17: 46,627,485 (GRCm39) H652Q probably benign Het
Actl6b A G 5: 137,565,591 (GRCm39) I396V possibly damaging Het
Acvr1b T C 15: 101,091,772 (GRCm39) probably benign Het
Adamts18 A T 8: 114,436,251 (GRCm39) H989Q probably benign Het
Adamtsl4 T C 3: 95,588,094 (GRCm39) Y631C probably damaging Het
Angptl3 A G 4: 98,925,804 (GRCm39) T377A probably benign Het
Ankmy2 G A 12: 36,226,632 (GRCm39) V109M probably damaging Het
Anpep G A 7: 79,483,423 (GRCm39) A689V probably benign Het
Brwd1 A T 16: 95,859,938 (GRCm39) M350K probably damaging Het
Cacna1d C T 14: 29,818,917 (GRCm39) V1213I probably damaging Het
Capn1 A G 19: 6,061,451 (GRCm39) F156L possibly damaging Het
Catsperb C A 12: 101,476,721 (GRCm39) F408L probably damaging Het
Ccdc146 A T 5: 21,506,350 (GRCm39) L697Q possibly damaging Het
Cdc37l1 T A 19: 28,989,386 (GRCm39) V281E probably benign Het
Chia1 A T 3: 106,039,304 (GRCm39) T465S probably benign Het
Cidec A T 6: 113,405,282 (GRCm39) probably null Het
Clcnkb T C 4: 141,139,610 (GRCm39) T131A probably benign Het
Clec5a T A 6: 40,558,793 (GRCm39) M98L probably benign Het
Cnga1 A T 5: 72,768,201 (GRCm39) F162I probably benign Het
Cyp27b1 A T 10: 126,884,267 (GRCm39) I40F probably damaging Het
Edrf1 A G 7: 133,265,144 (GRCm39) S1027G probably benign Het
Entpd1 C A 19: 40,727,283 (GRCm39) A448E probably damaging Het
Espl1 T C 15: 102,205,286 (GRCm39) probably null Het
Etfdh T C 3: 79,511,422 (GRCm39) I520V probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Gabra4 G A 5: 71,781,253 (GRCm39) P386L probably benign Het
Gckr G T 5: 31,463,922 (GRCm39) V281L probably damaging Het
Gfy T C 7: 44,827,167 (GRCm39) T310A probably benign Het
Gjc2 C A 11: 59,067,667 (GRCm39) V272L probably benign Het
Gm13441 G C 2: 31,777,511 (GRCm39) silent Het
H2-DMb2 T A 17: 34,367,582 (GRCm39) M1K probably null Het
Hipk3 T C 2: 104,302,153 (GRCm39) Y13C probably damaging Het
Kcnt1 A T 2: 25,784,536 (GRCm39) probably benign Het
Kcnt1 T C 2: 25,788,413 (GRCm39) F336S probably damaging Het
Klhdc7b A G 15: 89,271,359 (GRCm39) D747G probably benign Het
Krt78 T A 15: 101,857,030 (GRCm39) E359V probably damaging Het
Mast4 T C 13: 102,872,252 (GRCm39) D2195G probably benign Het
Matk C T 10: 81,096,753 (GRCm39) L188F probably damaging Het
Mcoln2 T C 3: 145,889,496 (GRCm39) I399T probably damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Nap1l1 A T 10: 111,326,891 (GRCm39) K151* probably null Het
Ncbp3 T A 11: 72,964,327 (GRCm39) S426T probably benign Het
Nisch T A 14: 30,893,985 (GRCm39) probably null Het
Or4k15b T C 14: 50,272,306 (GRCm39) T185A probably benign Het
Or5b113 T C 19: 13,342,369 (GRCm39) C126R probably damaging Het
Or8a1b A G 9: 37,623,101 (GRCm39) I158T probably benign Het
Or8b8 A G 9: 37,809,174 (GRCm39) H158R probably damaging Het
Peg3 T C 7: 6,720,854 (GRCm39) D17G probably damaging Het
Pkd1 G A 17: 24,791,894 (GRCm39) V1194M probably benign Het
Pkd1l2 A T 8: 117,756,387 (GRCm39) I1615N probably damaging Het
Pkd2 A T 5: 104,625,045 (GRCm39) probably null Het
Pkp4 T A 2: 59,135,420 (GRCm39) N97K possibly damaging Het
Prrx2 C T 2: 30,769,522 (GRCm39) R78C probably damaging Het
Pycr1 T A 11: 120,532,988 (GRCm39) I91F probably damaging Het
Rap1a T C 3: 105,645,081 (GRCm39) N87S possibly damaging Het
Sbk2 T G 7: 4,960,627 (GRCm39) Y181S probably damaging Het
Scart1 T A 7: 139,808,712 (GRCm39) D874E probably damaging Het
Sec16a A T 2: 26,328,843 (GRCm39) H1057Q possibly damaging Het
Shank3 T C 15: 89,433,119 (GRCm39) V1213A probably damaging Het
Slfn5 T A 11: 82,848,102 (GRCm39) I329K probably benign Het
Slit1 T A 19: 41,594,813 (GRCm39) N1186Y probably damaging Het
Ssbp3 A G 4: 106,867,018 (GRCm39) probably benign Het
Steap3 T A 1: 120,171,731 (GRCm39) I125F probably damaging Het
Synpr C A 14: 13,608,788 (GRCm38) probably benign Het
Tom1 T C 8: 75,776,886 (GRCm39) L69P probably damaging Het
Traf3ip3 T A 1: 192,880,314 (GRCm39) D5V possibly damaging Het
Vmn1r29 G A 6: 58,284,736 (GRCm39) S152N probably benign Het
Vmn1r68 T C 7: 10,261,550 (GRCm39) I183V probably benign Het
Wdr17 C G 8: 55,092,503 (GRCm39) V1094L probably benign Het
Wdr95 A G 5: 149,487,692 (GRCm39) I109V possibly damaging Het
Zfp39 T C 11: 58,793,717 (GRCm39) D7G probably benign Het
Zfp512 A T 5: 31,637,408 (GRCm39) Q443L probably damaging Het
Zfp974 T A 7: 27,610,230 (GRCm39) K498N possibly 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
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'- TTGGCTTGACTCACACGTCAG -3'
(R):5'- GTGCTTCAACAGATCCAAGAC -3'

Sequencing Primer
(F):5'- CACGTCAGTGGATAGAGCAG -3'
(R):5'- TCAGACACAGTGTGGACCTCAG -3'
Posted On 2017-02-28