Incidental Mutation 'IGL02515:Dpysl4'
ID296737
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpysl4
Ensembl Gene ENSMUSG00000025478
Gene Namedihydropyrimidinase-like 4
SynonymsDrp-4, Ulip4, Crmp3, CRMP-3, unc-33-like phosphoprotein 4, DPY4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock #IGL02515
Quality Score
Status
Chromosome7
Chromosomal Location139086001-139102704 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 139096735 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 367 (D367V)
Ref Sequence ENSEMBL: ENSMUSP00000112896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026551] [ENSMUST00000121184] [ENSMUST00000145499]
Predicted Effect probably damaging
Transcript: ENSMUST00000026551
AA Change: D346V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026551
Gene: ENSMUSG00000025478
AA Change: D346V

DomainStartEndE-ValueType
Pfam:Amidohydro_1 64 453 4.5e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121184
AA Change: D367V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112896
Gene: ENSMUSG00000025478
AA Change: D367V

DomainStartEndE-ValueType
Pfam:Amidohydro_1 85 474 1.1e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122844
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139364
Predicted Effect probably benign
Transcript: ENSMUST00000145499
SMART Domains Protein: ENSMUSP00000117764
Gene: ENSMUSG00000025478

DomainStartEndE-ValueType
Pfam:Amidohydro_1 1 148 2.7e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154273
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice exhibit abnormal neurite outgrowth and lamination in the hippocampus, altered dendrite arborization and spine morphology in hippocampal pyramidal cells, and impaired LTP induction in the CA1 region. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,262,403 D879G probably benign Het
Atp6v0d2 A T 4: 19,880,063 F278Y possibly damaging Het
C330027C09Rik A G 16: 49,005,733 T388A possibly damaging Het
Dapk3 T C 10: 81,189,929 probably benign Het
E330034G19Rik T A 14: 24,297,984 D101E possibly damaging Het
Epb41l1 G A 2: 156,537,013 E811K probably damaging Het
Fsd1 T A 17: 55,996,303 V424E probably null Het
Ggt5 G A 10: 75,589,770 V21I probably benign Het
Gm5239 A G 18: 35,536,734 E51G probably damaging Het
Gpr156 A G 16: 38,005,679 S753G probably damaging Het
Grid1 A T 14: 35,452,345 Y648F probably damaging Het
Hmgcr T C 13: 96,666,512 probably benign Het
Insc A G 7: 114,769,008 D11G probably damaging Het
Mmp9 A G 2: 164,948,956 D88G probably damaging Het
Mtmr10 C T 7: 64,337,511 R600W probably damaging Het
Nlrc3 C A 16: 3,949,459 probably benign Het
Olfr1471 T A 19: 13,445,108 I32N probably damaging Het
Olfr919 T C 9: 38,697,791 T196A probably benign Het
Pdcd11 A T 19: 47,125,077 D1323V probably damaging Het
Rgl3 T C 9: 21,974,100 R645G possibly damaging Het
Rnf2 A T 1: 151,471,695 D137E probably benign Het
Smchd1 T C 17: 71,440,957 H430R probably damaging Het
Sptb A G 12: 76,606,487 V1534A possibly damaging Het
Stip1 T C 19: 7,022,119 T432A probably benign Het
Tnfsf14 T C 17: 57,192,600 D84G probably benign Het
Ube2o A G 11: 116,543,699 V601A probably damaging Het
Vmn1r215 T C 13: 23,075,820 I10T probably benign Het
Vtn A T 11: 78,501,654 I353F probably damaging Het
Other mutations in Dpysl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Dpysl4 APN 7 139096176 missense probably damaging 1.00
IGL01836:Dpysl4 APN 7 139096173 missense possibly damaging 0.96
IGL02447:Dpysl4 APN 7 139098600 missense probably damaging 1.00
IGL03169:Dpysl4 APN 7 139099910 splice site probably null
PIT4382001:Dpysl4 UTSW 7 139089578 nonsense probably null
R0012:Dpysl4 UTSW 7 139097883 missense probably benign 0.32
R0012:Dpysl4 UTSW 7 139097883 missense probably benign 0.32
R1624:Dpysl4 UTSW 7 139089553 missense probably damaging 1.00
R1642:Dpysl4 UTSW 7 139090338 missense probably damaging 1.00
R1860:Dpysl4 UTSW 7 139090299 missense probably benign
R1885:Dpysl4 UTSW 7 139096807 missense probably damaging 1.00
R1995:Dpysl4 UTSW 7 139096770 missense probably benign
R2698:Dpysl4 UTSW 7 139096765 missense probably damaging 1.00
R3032:Dpysl4 UTSW 7 139096236 missense probably benign 0.01
R3762:Dpysl4 UTSW 7 139096756 missense probably damaging 1.00
R3851:Dpysl4 UTSW 7 139100935 missense probably damaging 1.00
R3852:Dpysl4 UTSW 7 139100935 missense probably damaging 1.00
R4609:Dpysl4 UTSW 7 139098621 missense probably damaging 0.99
R4972:Dpysl4 UTSW 7 139090290 missense probably damaging 1.00
R5538:Dpysl4 UTSW 7 139091990 missense probably benign
R5608:Dpysl4 UTSW 7 139098543 missense probably damaging 0.97
R5762:Dpysl4 UTSW 7 139091937 missense probably benign
R5887:Dpysl4 UTSW 7 139096276 missense possibly damaging 0.72
R6022:Dpysl4 UTSW 7 139086084 unclassified probably benign
R6060:Dpysl4 UTSW 7 139089408 start codon destroyed probably null
R6180:Dpysl4 UTSW 7 139090334 missense probably damaging 1.00
R6328:Dpysl4 UTSW 7 139099818 missense probably benign
R6809:Dpysl4 UTSW 7 139093660 missense probably benign 0.19
R6949:Dpysl4 UTSW 7 139091999 missense probably damaging 1.00
R7647:Dpysl4 UTSW 7 139099773 missense possibly damaging 0.92
R7695:Dpysl4 UTSW 7 139086123 start codon destroyed probably null 0.00
R7751:Dpysl4 UTSW 7 139089540 missense probably benign
Posted On2015-04-16