Incidental Mutation 'IGL02657:Slu7'
ID 302413
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slu7
Ensembl Gene ENSMUSG00000020409
Gene Name SLU7 splicing factor homolog (S. cerevisiae)
Synonyms D3Bwg0878e, D11Ertd730e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02657
Quality Score
Status
Chromosome 11
Chromosomal Location 43324571-43338808 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 43332849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020681] [ENSMUST00000126128] [ENSMUST00000151880] [ENSMUST00000178622]
AlphaFold Q8BHJ9
Predicted Effect probably null
Transcript: ENSMUST00000020681
SMART Domains Protein: ENSMUSP00000020681
Gene: ENSMUSG00000020409

DomainStartEndE-ValueType
low complexity region 34 45 N/A INTRINSIC
ZnF_C2HC 119 135 4.08e-1 SMART
Pfam:Slu7 160 434 1.3e-90 PFAM
coiled coil region 484 543 N/A INTRINSIC
low complexity region 555 570 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126128
SMART Domains Protein: ENSMUSP00000122142
Gene: ENSMUSG00000020409

DomainStartEndE-ValueType
low complexity region 34 45 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136541
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149402
Predicted Effect probably null
Transcript: ENSMUST00000151880
SMART Domains Protein: ENSMUSP00000116609
Gene: ENSMUSG00000020409

DomainStartEndE-ValueType
low complexity region 34 45 N/A INTRINSIC
ZnF_C2HC 119 135 4.08e-1 SMART
Pfam:Slu7 160 434 2.4e-91 PFAM
low complexity region 486 497 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000178622
SMART Domains Protein: ENSMUSP00000137281
Gene: ENSMUSG00000020409

DomainStartEndE-ValueType
low complexity region 34 45 N/A INTRINSIC
ZnF_C2HC 119 135 4.08e-1 SMART
Pfam:Slu7 161 434 1.6e-112 PFAM
coiled coil region 484 543 N/A INTRINSIC
low complexity region 555 570 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is a splicing factor that has been found to be essential during the second catalytic step in the pre-mRNA splicing process. It associates with the spliceosome and contains a zinc knuckle motif that is found in other splicing factors and is involved in protein-nucleic acid and protein-protein interactions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,725,648 (GRCm39) V120M possibly damaging Het
Aldh1l1 T C 6: 90,567,776 (GRCm39) L680P probably damaging Het
Alox12 A T 11: 70,138,104 (GRCm39) D410E probably benign Het
Amt T A 9: 108,178,579 (GRCm39) V365E probably damaging Het
Ano9 A G 7: 140,687,353 (GRCm39) S321P probably damaging Het
Atp2c2 A T 8: 120,479,771 (GRCm39) I767F probably damaging Het
Bag1 A T 4: 40,936,643 (GRCm39) Y338N probably benign Het
Bcr T A 10: 74,990,796 (GRCm39) D767E probably benign Het
Chfr A T 5: 110,302,705 (GRCm39) Q350L probably damaging Het
Cops3 A T 11: 59,721,043 (GRCm39) L124H probably damaging Het
Ddx60 T C 8: 62,437,149 (GRCm39) Y988H probably benign Het
Dnajc2 A T 5: 21,975,479 (GRCm39) probably benign Het
Dym C T 18: 75,215,527 (GRCm39) Q238* probably null Het
Fbn1 A T 2: 125,193,945 (GRCm39) C1341S possibly damaging Het
Fryl G T 5: 73,212,203 (GRCm39) N2308K probably benign Het
Gbp2b G T 3: 142,309,873 (GRCm39) R221L probably damaging Het
Gpat2 A G 2: 127,269,251 (GRCm39) N8S probably benign Het
Gvin2 T C 7: 105,545,972 (GRCm39) K2360R probably damaging Het
Hycc2 A T 1: 58,574,561 (GRCm39) W327R probably damaging Het
Ift52 A G 2: 162,887,135 (GRCm39) D379G probably damaging Het
Inhbe C A 10: 127,186,645 (GRCm39) L178F probably damaging Het
Ipo5 T C 14: 121,181,212 (GRCm39) Y913H possibly damaging Het
Kif21b T A 1: 136,099,968 (GRCm39) D1507E possibly damaging Het
Lnx2 A G 5: 146,964,984 (GRCm39) V413A probably damaging Het
Lrrc40 C A 3: 157,742,410 (GRCm39) F16L probably damaging Het
Magi2 A G 5: 19,432,581 (GRCm39) K99E probably damaging Het
Me3 A G 7: 89,495,461 (GRCm39) I357M probably benign Het
Med30 A G 15: 52,582,761 (GRCm39) Y66C probably benign Het
Mief2 A T 11: 60,621,783 (GRCm39) S118C probably damaging Het
Mylip A G 13: 45,544,722 (GRCm39) S49G probably benign Het
Ncoa7 T A 10: 30,528,972 (GRCm39) D107V probably damaging Het
Nvl C A 1: 180,934,541 (GRCm39) V655F probably damaging Het
Olfml2b C T 1: 170,508,645 (GRCm39) T501I probably benign Het
Ormdl2 T C 10: 128,656,186 (GRCm39) I40V probably benign Het
Pde6b G T 5: 108,568,142 (GRCm39) probably benign Het
Ralgapa1 A C 12: 55,720,292 (GRCm39) L1785W probably damaging Het
Rnf112 A T 11: 61,341,078 (GRCm39) probably null Het
Sema3c A T 5: 17,781,866 (GRCm39) M1L possibly damaging Het
Sema3c T A 5: 17,867,972 (GRCm39) Y128N probably damaging Het
Sema4b G A 7: 79,866,789 (GRCm39) G255D probably damaging Het
Setd1a C T 7: 127,394,997 (GRCm39) probably benign Het
Sirpb1a A C 3: 15,482,111 (GRCm39) S72R possibly damaging Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Suclg1 T A 6: 73,237,504 (GRCm39) V83E probably damaging Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Tap2 T C 17: 34,424,432 (GRCm39) V55A probably damaging Het
Tekt4 T C 17: 25,692,732 (GRCm39) I186T possibly damaging Het
Trpc6 C A 9: 8,643,602 (GRCm39) D462E possibly damaging Het
Ubqln3 T G 7: 103,791,170 (GRCm39) T307P probably damaging Het
Vmn1r64 A T 7: 5,886,727 (GRCm39) I272K probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfc3h1 A G 10: 115,247,859 (GRCm39) T1021A possibly damaging Het
Zfp512 A T 5: 31,628,501 (GRCm39) H159L probably damaging Het
Other mutations in Slu7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01886:Slu7 APN 11 43,330,087 (GRCm39) missense probably damaging 1.00
IGL02212:Slu7 APN 11 43,331,469 (GRCm39) missense probably benign 0.05
IGL02671:Slu7 APN 11 43,336,302 (GRCm39) splice site probably null
IGL02702:Slu7 APN 11 43,329,719 (GRCm39) splice site probably benign
IGL02720:Slu7 APN 11 43,336,030 (GRCm39) missense probably benign 0.00
IGL02831:Slu7 APN 11 43,333,480 (GRCm39) nonsense probably null
IGL03104:Slu7 APN 11 43,332,883 (GRCm39) missense probably benign 0.36
IGL03106:Slu7 APN 11 43,333,457 (GRCm39) missense possibly damaging 0.46
R0571:Slu7 UTSW 11 43,332,405 (GRCm39) critical splice donor site probably null
R1498:Slu7 UTSW 11 43,329,044 (GRCm39) missense possibly damaging 0.78
R1753:Slu7 UTSW 11 43,330,095 (GRCm39) missense probably benign 0.40
R1789:Slu7 UTSW 11 43,336,069 (GRCm39) missense probably benign 0.00
R2655:Slu7 UTSW 11 43,331,475 (GRCm39) missense probably benign 0.03
R2941:Slu7 UTSW 11 43,335,584 (GRCm39) missense probably benign 0.06
R3916:Slu7 UTSW 11 43,331,511 (GRCm39) splice site probably null
R3917:Slu7 UTSW 11 43,331,511 (GRCm39) splice site probably null
R4084:Slu7 UTSW 11 43,334,218 (GRCm39) missense probably benign 0.03
R4393:Slu7 UTSW 11 43,330,096 (GRCm39) missense possibly damaging 0.89
R5656:Slu7 UTSW 11 43,334,245 (GRCm39) missense probably benign 0.03
R5884:Slu7 UTSW 11 43,334,245 (GRCm39) missense probably benign 0.03
R6320:Slu7 UTSW 11 43,332,316 (GRCm39) missense probably benign 0.22
R6517:Slu7 UTSW 11 43,328,975 (GRCm39) missense probably damaging 1.00
R7763:Slu7 UTSW 11 43,335,592 (GRCm39) missense probably damaging 1.00
R7893:Slu7 UTSW 11 43,335,663 (GRCm39) splice site probably null
R8023:Slu7 UTSW 11 43,336,975 (GRCm39) missense probably benign 0.23
R8251:Slu7 UTSW 11 43,330,128 (GRCm39) missense probably damaging 1.00
R8481:Slu7 UTSW 11 43,328,321 (GRCm39) missense probably damaging 0.98
R8481:Slu7 UTSW 11 43,328,320 (GRCm39) missense probably damaging 0.99
R8733:Slu7 UTSW 11 43,334,167 (GRCm39) missense probably damaging 1.00
R8971:Slu7 UTSW 11 43,333,480 (GRCm39) missense probably benign
R9046:Slu7 UTSW 11 43,335,629 (GRCm39) missense probably damaging 1.00
R9069:Slu7 UTSW 11 43,328,952 (GRCm39) missense probably damaging 1.00
R9184:Slu7 UTSW 11 43,334,224 (GRCm39) missense probably damaging 1.00
R9499:Slu7 UTSW 11 43,329,095 (GRCm39) missense probably benign 0.45
R9552:Slu7 UTSW 11 43,329,095 (GRCm39) missense probably benign 0.45
Posted On 2015-04-16