Incidental Mutation 'IGL02831:Slu7'
ID361455
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 #IGL02831
Quality Score
Status
Chromosome11
Chromosomal Location43433744-43447981 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 43442653 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 367 (Q367*)
Ref Sequence ENSEMBL: ENSMUSP00000137281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020681] [ENSMUST00000126128] [ENSMUST00000151880] [ENSMUST00000178622]
Predicted Effect probably null
Transcript: ENSMUST00000020681
AA Change: Q367*
SMART Domains Protein: ENSMUSP00000020681
Gene: ENSMUSG00000020409
AA Change: Q367*

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
AA Change: Q367*
SMART Domains Protein: ENSMUSP00000116609
Gene: ENSMUSG00000020409
AA Change: Q367*

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
AA Change: Q367*
SMART Domains Protein: ENSMUSP00000137281
Gene: ENSMUSG00000020409
AA Change: Q367*

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a C T 11: 110,053,081 V1121M probably damaging Het
Acrbp C A 6: 125,061,249 T471N possibly damaging Het
Blnk C T 19: 40,962,429 D93N probably damaging Het
Casp7 A G 19: 56,404,423 D3G probably benign Het
Cd163l1 G T 7: 140,228,521 V782L probably benign Het
Coro1c A T 5: 113,844,408 C456S probably benign Het
Dlec1 T G 9: 119,143,915 L1499R probably damaging Het
Dnah8 T C 17: 30,712,276 S1422P probably benign Het
Exd1 T C 2: 119,528,754 D216G probably damaging Het
Fhit T C 14: 9,870,080 T130A probably benign Het
Frem1 A T 4: 82,956,158 M1409K probably benign Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Glb1l2 A G 9: 26,767,450 V465A probably benign Het
Ints8 T C 4: 11,245,896 Q194R possibly damaging Het
Ip6k2 C T 9: 108,804,534 probably benign Het
Kctd2 T A 11: 115,430,340 *264K probably null Het
Krt34 C A 11: 100,040,147 probably benign Het
Lamc1 A G 1: 153,247,055 S760P probably benign Het
Lrp1b T C 2: 41,193,591 N1702S probably damaging Het
Lrrc8e T A 8: 4,235,429 S551R probably damaging Het
Map3k20 T C 2: 72,371,727 V139A probably damaging Het
Mkl1 A G 15: 81,104,793 L9P probably benign Het
Napsa A G 7: 44,586,760 T408A probably benign Het
Olfr1156 T C 2: 87,949,676 probably null Het
Olfr132 T C 17: 38,130,512 K227E probably benign Het
Olfr1361 T C 13: 21,658,904 I140V probably benign Het
Panx1 A G 9: 15,007,648 L305P probably damaging Het
Pkhd1l1 A G 15: 44,501,493 H676R probably benign Het
Pld1 T A 3: 28,076,425 V458E probably damaging Het
Ppp5c A G 7: 17,008,645 L256P probably damaging Het
Pyroxd2 G T 19: 42,735,903 T307K probably damaging Het
Sin3b A G 8: 72,744,562 E379G probably damaging Het
Slc22a23 T C 13: 34,299,069 T276A possibly damaging Het
Slc26a3 T C 12: 31,452,629 I283T probably damaging Het
Sltm A G 9: 70,584,865 D712G probably damaging Het
Srbd1 T C 17: 86,003,871 N706S probably damaging Het
Supt16 A T 14: 52,170,878 M870K possibly damaging Het
Tnxb T C 17: 34,703,571 Y2453H possibly damaging Het
Tomm40 A G 7: 19,703,089 Y274H probably damaging Het
Utp20 A T 10: 88,815,908 D404E probably benign Het
Vmn2r23 T A 6: 123,704,385 M84K probably benign Het
Wdr70 A G 15: 7,884,306 Y621H possibly damaging Het
Wfdc8 C T 2: 164,605,765 probably null 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
IGL03104:Slu7 APN 11 43442056 missense probably benign 0.36
IGL03106:Slu7 APN 11 43442630 missense possibly damaging 0.46
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
R7763:Slu7 UTSW 11 43444765 missense probably damaging 1.00
R7893:Slu7 UTSW 11 43444836 splice site probably null
R8023:Slu7 UTSW 11 43446148 missense probably benign 0.23
R8251:Slu7 UTSW 11 43439301 missense probably damaging 1.00
R8481:Slu7 UTSW 11 43437493 missense probably damaging 0.99
R8481:Slu7 UTSW 11 43437494 missense probably damaging 0.98
R8733:Slu7 UTSW 11 43443340 missense probably damaging 1.00
Posted On2015-12-18