Incidental Mutation 'R9587:Sfswap'
ID 722829
Institutional Source Beutler Lab
Gene Symbol Sfswap
Ensembl Gene ENSMUSG00000029439
Gene Name splicing factor SWAP
Synonyms Sfrs8, 1190005N23Rik, 6330437E22Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9587 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 129578286-129648448 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 129618427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 454 (D454N)
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: D454N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: D454N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T A 5: 4,119,149 (GRCm39) L3552Q probably damaging Het
Atat1 T C 17: 36,209,182 (GRCm39) E353G probably benign Het
Banf2 A G 2: 143,907,452 (GRCm39) K42R probably damaging Het
Cabp7 T A 11: 4,688,865 (GRCm39) M202L probably damaging Het
Cage1 T C 13: 38,207,233 (GRCm39) E204G probably damaging Het
Caprin2 A G 6: 148,770,500 (GRCm39) V498A probably benign Het
Cfap161 A G 7: 83,440,878 (GRCm39) F150L probably damaging Het
Cyb5r1 G A 1: 134,335,387 (GRCm39) G141R probably damaging Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,979,841 (GRCm39) probably null Het
Dnah9 T C 11: 65,999,217 (GRCm39) Q974R probably null Het
Eps8l3 G A 3: 107,798,683 (GRCm39) R523Q probably benign Het
Ext1 T C 15: 52,955,808 (GRCm39) I430V possibly damaging Het
Gga3 T C 11: 115,481,717 (GRCm39) K202R probably damaging Het
Gm11567 T C 11: 99,770,136 (GRCm39) W25R unknown Het
Gpr3 G A 4: 132,937,988 (GRCm39) A228V probably damaging Het
Krt10 T C 11: 99,277,420 (GRCm39) D426G possibly damaging Het
Krt24 T A 11: 99,174,453 (GRCm39) I205F probably damaging Het
Krt33a T C 11: 99,906,733 (GRCm39) N81D probably damaging Het
Mapkbp1 T C 2: 119,847,277 (GRCm39) S505P possibly damaging Het
Matr3 A G 18: 35,717,876 (GRCm39) D696G probably null Het
Mov10 C T 3: 104,711,899 (GRCm39) G158S probably benign Het
Myh1 T A 11: 67,102,196 (GRCm39) M829K probably benign Het
Ncam2 T C 16: 81,262,501 (GRCm39) V318A probably benign Het
Ndufv3 A G 17: 31,747,106 (GRCm39) E332G probably benign Het
Ngdn C T 14: 55,254,578 (GRCm39) T43M probably benign Het
Nop2 T A 6: 125,117,785 (GRCm39) D445E probably damaging Het
Or2y17 C T 11: 49,232,007 (GRCm39) S216F probably benign Het
Or3a10 G A 11: 73,935,360 (GRCm39) H247Y probably damaging Het
Or5w17 A T 2: 87,584,184 (GRCm39) M51K possibly damaging Het
Or8u8 A T 2: 86,011,564 (GRCm39) V297E probably damaging Het
Prl2b1 G A 13: 27,567,601 (GRCm39) A181V probably benign Het
Ptprg T A 14: 12,215,992 (GRCm38) L1147Q probably damaging Het
Rubcn T C 16: 32,663,679 (GRCm39) D319G probably damaging Het
Slc38a6 G T 12: 73,388,513 (GRCm39) K242N probably benign Het
Tmigd3 A G 3: 105,824,088 (GRCm39) D19G probably damaging Het
Trim36 T C 18: 46,308,722 (GRCm39) E380G probably benign Het
Ttn T A 2: 76,624,976 (GRCm39) I15201F probably damaging Het
Vmn2r12 A G 5: 109,239,322 (GRCm39) S414P probably damaging Het
Vmn2r82 A T 10: 79,214,936 (GRCm39) K306N possibly damaging Het
Wdfy4 A T 14: 32,769,230 (GRCm39) Y2232* probably null Het
Wdr53 A G 16: 32,075,830 (GRCm39) D345G probably damaging Het
Zfp26 G A 9: 20,348,213 (GRCm39) R784C probably damaging Het
Zfp58 A T 13: 67,639,823 (GRCm39) C223S probably damaging Het
Zfp618 A G 4: 63,051,916 (GRCm39) H899R Het
Zfp963 A G 8: 70,195,692 (GRCm39) Y254H probably benign Het
Zfp994 T C 17: 22,421,764 (GRCm39) D17G 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
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
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
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'- ACTCCCAGCAGTGATACTCTG -3'
(R):5'- GCCAAGCAAACACTGTCTCTG -3'

Sequencing Primer
(F):5'- GTCTTGTTACTGCCCAGGAGC -3'
(R):5'- CTGTCTCTGAAATTCACGAATGCCAG -3'
Posted On 2022-08-09