Incidental Mutation 'IGL02519:Dhps'
ID296886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhps
Ensembl Gene ENSMUSG00000060038
Gene Namedeoxyhypusine synthase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02519
Quality Score
Status
Chromosome8
Chromosomal Location85071757-85075162 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85073299 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 126 (D126G)
Ref Sequence ENSEMBL: ENSMUSP00000077733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078665] [ENSMUST00000093357] [ENSMUST00000152871] [ENSMUST00000152785] [ENSMUST00000149050]
Predicted Effect probably damaging
Transcript: ENSMUST00000078665
AA Change: D126G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077733
Gene: ENSMUSG00000060038
AA Change: D126G

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Pfam:DS 44 354 7.1e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093357
SMART Domains Protein: ENSMUSP00000091048
Gene: ENSMUSG00000005150

DomainStartEndE-ValueType
WD40 14 53 1.05e-7 SMART
WD40 56 95 8.42e-7 SMART
WD40 98 137 8.1e-9 SMART
WD40 142 179 5.52e-2 SMART
WD40 182 219 1.66e0 SMART
WD40 222 263 7e-4 SMART
WD40 266 304 4.75e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136696
Predicted Effect probably benign
Transcript: ENSMUST00000142201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145880
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152186
Predicted Effect probably benign
Transcript: ENSMUST00000152871
SMART Domains Protein: ENSMUSP00000120308
Gene: ENSMUSG00000060038

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Pfam:DS 59 142 1.1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152785
SMART Domains Protein: ENSMUSP00000122127
Gene: ENSMUSG00000005150

DomainStartEndE-ValueType
WD40 14 53 1.05e-7 SMART
WD40 56 95 8.42e-7 SMART
WD40 140 177 5.52e-2 SMART
WD40 180 217 1.66e0 SMART
WD40 220 261 7e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149050
SMART Domains Protein: ENSMUSP00000121568
Gene: ENSMUSG00000005150

DomainStartEndE-ValueType
WD40 14 53 1.05e-7 SMART
WD40 56 95 8.42e-7 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation factor 5A. The encoded protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of the eukaryotic translation initiation factor 5A precursor, forming an intermediate deoxyhypusine residue. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,895,315 E370G probably damaging Het
Adamts13 A T 2: 26,978,675 I224F probably damaging Het
Adamts17 A G 7: 67,124,973 T947A possibly damaging Het
Ankfn1 T C 11: 89,405,678 E75G probably benign Het
Arfgef1 G T 1: 10,209,668 H225N probably benign Het
Arsi A G 18: 60,917,067 S341G probably damaging Het
Aspm T A 1: 139,461,927 probably benign Het
Cacna1i C T 15: 80,361,874 R490* probably null Het
Cd33 C T 7: 43,528,729 probably benign Het
Clmn T C 12: 104,791,853 I135V probably damaging Het
Crebbp A T 16: 4,101,593 N795K possibly damaging Het
Dlg2 G T 7: 91,940,115 V196L possibly damaging Het
Dsg1c T A 18: 20,283,733 I897N probably damaging Het
Dzip3 A G 16: 48,928,396 L1059S probably damaging Het
Epha7 A T 4: 28,821,494 T220S possibly damaging Het
Fgf17 A G 14: 70,638,528 I88T probably damaging Het
G3bp2 A G 5: 92,066,524 V137A possibly damaging Het
Gnal G A 18: 67,088,765 E80K unknown Het
Hectd1 T G 12: 51,769,111 S1393R probably damaging Het
Igsf6 T C 7: 121,068,273 I173M possibly damaging Het
Il2ra A C 2: 11,683,090 E227A possibly damaging Het
Iqcf6 C T 9: 106,627,280 R48C probably damaging Het
Kdm3a G T 6: 71,611,586 Q480K probably benign Het
Larp4b C A 13: 9,158,580 A423E probably benign Het
Magea6 T C X: 154,924,745 D105G probably benign Het
Nop53 C A 7: 15,939,272 probably benign Het
Olfr307 A T 7: 86,335,581 F272I probably benign Het
Olfr338 T C 2: 36,377,313 L179P possibly damaging Het
Pgghg A G 7: 140,944,981 T352A possibly damaging Het
Setd2 T C 9: 110,553,116 S1464P probably damaging Het
Sspo C A 6: 48,484,828 T3609N probably damaging Het
Sulf1 T A 1: 12,838,363 Y533* probably null Het
Thsd7b A G 1: 129,613,195 S346G probably benign Het
Tmem161b T A 13: 84,294,744 L261Q probably damaging Het
Tmem63b T A 17: 45,665,208 T493S possibly damaging Het
Tmprss11d A T 5: 86,306,305 C214S probably damaging Het
Trim16 A T 11: 62,834,079 E144V possibly damaging Het
Unc13d T C 11: 116,070,533 Y356C probably damaging Het
Urgcp A T 11: 5,717,745 F198I probably benign Het
Vmn2r111 T C 17: 22,548,339 I726V possibly damaging Het
Zzz3 A T 3: 152,427,390 E28D probably damaging Het
Other mutations in Dhps
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02689:Dhps APN 8 85073750 missense possibly damaging 0.86
R0648:Dhps UTSW 8 85073282 splice site probably null
R2027:Dhps UTSW 8 85072611 missense probably damaging 1.00
R5199:Dhps UTSW 8 85073406 missense probably damaging 1.00
R5366:Dhps UTSW 8 85074784 missense probably damaging 1.00
R5728:Dhps UTSW 8 85073335 missense probably damaging 1.00
R5895:Dhps UTSW 8 85074251 missense probably benign 0.35
R7243:Dhps UTSW 8 85074938 missense probably benign 0.01
R7574:Dhps UTSW 8 85072552 missense probably damaging 0.97
Posted On2015-04-16