Incidental Mutation 'R2078:Sfswap'
ID 229271
Institutional Source Beutler Lab
Gene Symbol Sfswap
Ensembl Gene ENSMUSG00000029439
Gene Name splicing factor SWAP
Synonyms Sfrs8, 1190005N23Rik, 6330437E22Rik
MMRRC Submission 040083-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2078 (G1)
Quality Score 209
Status Not validated
Chromosome 5
Chromosomal Location 129578286-129648448 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129593171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 346 (D346G)
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: D346G

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: D346G

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 noncoding transcript
Transcript: ENSMUST00000199925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200662
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 C A 1: 75,148,780 (GRCm39) G55C probably damaging Het
Acss3 T C 10: 106,802,902 (GRCm39) T448A possibly damaging Het
Atxn7 A G 14: 14,052,975 (GRCm38) N138D probably damaging Het
Cacna2d4 A T 6: 119,315,077 (GRCm39) D869V probably benign Het
Cps1 T G 1: 67,196,965 (GRCm39) Y339D probably damaging Het
Cps1 T C 1: 67,234,424 (GRCm39) I937T possibly damaging Het
Dlgap4 T C 2: 156,604,746 (GRCm39) S261P probably damaging Het
Dusp6 T C 10: 99,099,686 (GRCm39) Y45H probably damaging Het
Ebag9 A G 15: 44,500,200 (GRCm39) N157S probably damaging Het
Exoc4 A G 6: 33,887,522 (GRCm39) D770G probably benign Het
Ezr A G 17: 7,050,041 (GRCm39) M1T probably null Het
Fat4 A G 3: 38,943,822 (GRCm39) N905S probably damaging Het
Fcrlb C G 1: 170,735,650 (GRCm39) R208P probably damaging Het
Flnb T C 14: 7,927,466 (GRCm38) V1892A probably damaging Het
Gas2 G A 7: 51,547,073 (GRCm39) V75M probably benign Het
Gda T A 19: 21,378,036 (GRCm39) D267V probably damaging Het
Gper1 A T 5: 139,411,888 (GRCm39) I78F probably benign Het
Hectd1 A C 12: 51,795,325 (GRCm39) I2368S probably damaging Het
Katna1 C T 10: 7,619,333 (GRCm39) P114S probably benign Het
Lce3c G A 3: 92,852,758 (GRCm39) S73N unknown Het
Lrfn3 A T 7: 30,059,879 (GRCm39) D115E possibly damaging Het
Lrrc47 C A 4: 154,103,888 (GRCm39) T505K probably damaging Het
Mertk C T 2: 128,636,378 (GRCm39) T784I probably damaging Het
Mettl21e T A 1: 44,245,662 (GRCm39) I195F possibly damaging Het
Mff T C 1: 82,719,642 (GRCm39) S207P probably damaging Het
Mtmr6 A G 14: 60,529,436 (GRCm39) probably null Het
Myh9 T C 15: 77,648,112 (GRCm39) K1788R probably benign Het
Narf A G 11: 121,136,220 (GRCm39) T199A probably benign Het
Neurod6 A G 6: 55,655,954 (GRCm39) S228P probably benign Het
Notch4 A T 17: 34,787,689 (GRCm39) probably null Het
Nyap2 T C 1: 81,169,696 (GRCm39) L151P probably damaging Het
Or5b21 T A 19: 12,839,751 (GRCm39) V204E probably benign Het
P2ry1 A G 3: 60,911,118 (GRCm39) I86V probably damaging Het
Pafah1b2 G T 9: 45,880,127 (GRCm39) D183E probably damaging Het
Phldb1 T C 9: 44,619,276 (GRCm39) E179G probably damaging Het
Piezo2 T C 18: 63,250,791 (GRCm39) E436G probably damaging Het
Pkhd1l1 A G 15: 44,391,163 (GRCm39) I1514V probably benign Het
Plch1 A G 3: 63,609,364 (GRCm39) S948P probably benign Het
Rfc5 A G 5: 117,518,868 (GRCm39) V296A probably benign Het
Rnf150 A T 8: 83,730,234 (GRCm39) I255F probably damaging Het
Rsbn1 A G 3: 103,868,839 (GRCm39) D626G probably damaging Het
Slc38a11 A T 2: 65,160,728 (GRCm39) F289I possibly damaging Het
Terf2ip A G 8: 112,742,035 (GRCm39) N243S probably benign Het
Tmed5 A T 5: 108,272,471 (GRCm39) V209E probably damaging Het
Tmem63b A G 17: 45,974,462 (GRCm39) S603P possibly damaging Het
Tomm20 T C 8: 127,663,822 (GRCm39) M121V possibly damaging Het
Tspan33 G A 6: 29,709,970 (GRCm39) V45I probably benign Het
Usp17la A T 7: 104,508,600 (GRCm39) M1L probably benign Het
Vsig8 C A 1: 172,390,856 (GRCm39) D301E probably benign Het
Vwa8 T A 14: 79,145,597 (GRCm39) H91Q 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
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
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'- GACATGCTGACAGTACCATAAGG -3'
(R):5'- TCAGGAATGCAGAGCCACAG -3'

Sequencing Primer
(F):5'- GGCCAAATGTCTTCTCTG -3'
(R):5'- CAGGCCAGGCAACCATG -3'
Posted On 2014-09-17