Incidental Mutation 'IGL03106:Slu7'
ID418984
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slu7
Ensembl Gene ENSMUSG00000020409
Gene NameSLU7 splicing factor homolog (S. cerevisiae)
SynonymsD3Bwg0878e, D11Ertd730e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03106
Quality Score
Status
Chromosome11
Chromosomal Location43433744-43447981 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 43442630 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 359 (V359D)
Ref Sequence ENSEMBL: ENSMUSP00000137281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020681] [ENSMUST00000126128] [ENSMUST00000151880] [ENSMUST00000178622]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020681
AA Change: V359D

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020681
Gene: ENSMUSG00000020409
AA Change: V359D

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 benign
Transcript: ENSMUST00000151880
AA Change: V359D

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116609
Gene: ENSMUSG00000020409
AA Change: V359D

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 possibly damaging
Transcript: ENSMUST00000178622
AA Change: V359D

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137281
Gene: ENSMUSG00000020409
AA Change: V359D

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 G T 8: 24,715,119 probably benign Het
Adgrv1 T C 13: 81,472,899 N3911S probably benign Het
Alox12b C T 11: 69,168,876 Q585* probably null Het
Amtn A G 5: 88,378,085 Q36R probably benign Het
Arg2 G A 12: 79,149,891 G129S probably damaging Het
Arhgef28 A C 13: 97,957,793 Y948D probably damaging Het
Atp10b T C 11: 43,247,477 V1195A probably benign Het
Bet1l G T 7: 140,854,610 T42K probably benign Het
Cabin1 G A 10: 75,733,628 T875I probably benign Het
Ccdc17 A G 4: 116,596,836 probably null Het
Crebrf A G 17: 26,771,319 E612G probably damaging Het
Cyp2c67 A T 19: 39,643,675 M83K probably benign Het
Dgkz A G 2: 91,940,859 S414P probably damaging Het
Dock10 G T 1: 80,568,834 H411N probably damaging Het
Dpyd A T 3: 119,195,134 T749S probably benign Het
Dsc1 C T 18: 20,086,644 probably null Het
Echdc1 A T 10: 29,322,280 M74L probably damaging Het
Edn1 C A 13: 42,305,023 T104K possibly damaging Het
Fat2 T A 11: 55,311,901 T116S probably benign Het
Fcrl5 A T 3: 87,435,883 probably null Het
Fpgt C T 3: 155,087,122 G423R probably damaging Het
Gprc5b A T 7: 118,984,193 V151E probably damaging Het
Grm5 A G 7: 88,036,070 Y465C probably damaging Het
Idh3b T A 2: 130,284,401 N6I probably benign Het
Ighmbp2 T C 19: 3,273,022 K308R possibly damaging Het
Lrch1 A T 14: 74,835,762 S146T possibly damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mterf3 T C 13: 66,930,157 K16R probably damaging Het
Ncapg T A 5: 45,695,668 H825Q probably damaging Het
Olfr1095 A C 2: 86,851,614 L28R possibly damaging Het
Olfr1138 A T 2: 87,738,118 S69T probably benign Het
Olfr1392 T A 11: 49,294,161 I280N probably damaging Het
Olfr1443 G A 19: 12,680,923 V272M possibly damaging Het
Olfr31 G A 14: 14,328,851 V247I probably damaging Het
Olfr984 A G 9: 40,100,734 V252A probably damaging Het
Pald1 A T 10: 61,347,105 M355K probably benign Het
Phc1 A G 6: 122,323,469 probably benign Het
Phkb T A 8: 86,018,466 probably benign Het
Pkn3 G T 2: 30,085,245 R506L probably damaging Het
Plod2 T C 9: 92,573,567 Y100H probably damaging Het
Prl7b1 G T 13: 27,606,935 Q56K probably benign Het
Rhot1 T A 11: 80,242,581 C229* probably null Het
Sema3a G A 5: 13,599,488 R735Q probably damaging Het
Slc18b1 A G 10: 23,826,659 *460W probably null Het
Slco6c1 T A 1: 97,066,023 probably benign Het
Suco T C 1: 161,834,480 Y794C possibly damaging Het
Sult3a2 T C 10: 33,779,773 N70S probably benign Het
Taar2 A T 10: 23,941,297 D245V probably damaging Het
Taf1d A G 9: 15,309,941 H181R possibly damaging Het
Tmem33 T C 5: 67,263,796 S38P probably damaging Het
Traf3ip1 T C 1: 91,522,887 S519P probably benign Het
Ttc12 T C 9: 49,458,062 K253E possibly damaging Het
Other mutations in Slu7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01886:Slu7 APN 11 43439260 missense probably damaging 1.00
IGL02212:Slu7 APN 11 43440642 missense probably benign 0.05
IGL02657:Slu7 APN 11 43442022 splice site probably null
IGL02671:Slu7 APN 11 43445475 splice site probably null
IGL02702:Slu7 APN 11 43438892 splice site probably benign
IGL02720:Slu7 APN 11 43445203 missense probably benign 0.00
IGL02831:Slu7 APN 11 43442653 nonsense probably null
IGL03104:Slu7 APN 11 43442056 missense probably benign 0.36
R0571:Slu7 UTSW 11 43441578 critical splice donor site probably null
R1498:Slu7 UTSW 11 43438217 missense possibly damaging 0.78
R1753:Slu7 UTSW 11 43439268 missense probably benign 0.40
R1789:Slu7 UTSW 11 43445242 missense probably benign 0.00
R2655:Slu7 UTSW 11 43440648 missense probably benign 0.03
R2941:Slu7 UTSW 11 43444757 missense probably benign 0.06
R3916:Slu7 UTSW 11 43440684 splice site probably null
R3917:Slu7 UTSW 11 43440684 splice site probably null
R4084:Slu7 UTSW 11 43443391 missense probably benign 0.03
R4393:Slu7 UTSW 11 43439269 missense possibly damaging 0.89
R5656:Slu7 UTSW 11 43443418 missense probably benign 0.03
R5884:Slu7 UTSW 11 43443418 missense probably benign 0.03
R6320:Slu7 UTSW 11 43441489 missense probably benign 0.22
R6517:Slu7 UTSW 11 43438148 missense probably damaging 1.00
Posted On2016-08-02