Incidental Mutation 'R5199:Dhps'
ID 400599
Institutional Source Beutler Lab
Gene Symbol Dhps
Ensembl Gene ENSMUSG00000060038
Gene Name deoxyhypusine synthase
Synonyms
MMRRC Submission 042775-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5199 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 85798386-85801791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 85800035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 162 (G162R)
Ref Sequence ENSEMBL: ENSMUSP00000077733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078665] [ENSMUST00000093357] [ENSMUST00000152871] [ENSMUST00000152785] [ENSMUST00000149050]
AlphaFold Q3TXU5
Predicted Effect probably damaging
Transcript: ENSMUST00000078665
AA Change: G162R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077733
Gene: ENSMUSG00000060038
AA Change: G162R

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 noncoding transcript
Transcript: ENSMUST00000142210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152186
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145880
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146900
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: ENSMUST00000142201
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
Meta Mutation Damage Score 0.7521 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (57/57)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 T C 3: 59,843,906 (GRCm39) L200P probably damaging Het
Adam1a T C 5: 121,659,215 (GRCm39) E26G probably benign Het
Adar T A 3: 89,653,251 (GRCm39) M797K probably damaging Het
Amdhd1 A T 10: 93,361,847 (GRCm39) C352S probably damaging Het
AW554918 C A 18: 25,473,356 (GRCm39) R387S probably damaging Het
Cabp1 A G 5: 115,324,102 (GRCm39) V5A possibly damaging Het
Carmil1 A G 13: 24,295,853 (GRCm39) L387P probably damaging Het
Cds2 T A 2: 132,140,403 (GRCm39) H200Q probably damaging Het
Cep170b T A 12: 112,710,581 (GRCm39) L1470Q probably damaging Het
Cnnm1 A G 19: 43,483,425 (GRCm39) D956G possibly damaging Het
Cnot8 C T 11: 58,006,100 (GRCm39) Q210* probably null Het
Cpne8 G A 15: 90,532,812 (GRCm39) T65I probably benign Het
Crygn A G 5: 24,961,156 (GRCm39) V50A probably damaging Het
Cxcr4 A G 1: 128,517,283 (GRCm39) V126A probably damaging Het
Cyp4f15 A G 17: 32,921,346 (GRCm39) D464G probably benign Het
Dapp1 C T 3: 137,687,146 (GRCm39) S12N probably benign Het
Dsp T G 13: 38,376,878 (GRCm39) Y1554* probably null Het
Etl4 G T 2: 20,748,853 (GRCm39) R397L probably damaging Het
Ezh2 C T 6: 47,528,659 (GRCm39) C291Y probably benign Het
Gbp9 T C 5: 105,231,678 (GRCm39) S303G probably benign Het
Gm11444 A C 11: 85,738,845 (GRCm39) S83A unknown Het
Gpat4 A G 8: 23,672,712 (GRCm39) V46A possibly damaging Het
Haus6 T C 4: 86,501,222 (GRCm39) D883G possibly damaging Het
Hinfp T C 9: 44,207,689 (GRCm39) E439G probably benign Het
Ifna14 T A 4: 88,489,599 (GRCm39) Y146F probably damaging Het
Igkv3-3 A T 6: 70,664,488 (GRCm39) Y110F probably damaging Het
Kansl2-ps A G 7: 72,322,942 (GRCm39) noncoding transcript Het
Klrh1 T A 6: 129,752,781 (GRCm39) Y8F possibly damaging Het
Mcmdc2 T C 1: 9,990,660 (GRCm39) V279A probably benign Het
Mug2 T A 6: 122,017,619 (GRCm39) V452D probably benign Het
Ndufb3 C G 1: 58,630,281 (GRCm39) probably benign Het
Oas1d G T 5: 121,057,208 (GRCm39) K271N probably benign Het
Or4c110 T A 2: 88,832,107 (GRCm39) H175L possibly damaging Het
Or5ac21 T A 16: 59,124,103 (GRCm39) F196I probably benign Het
Or9g3 A G 2: 85,590,558 (GRCm39) L54P probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcnt T A 10: 76,254,378 (GRCm39) H817L probably benign Het
Per3 G T 4: 151,097,352 (GRCm39) S724R probably benign Het
Phlpp1 T A 1: 106,101,124 (GRCm39) V464E probably damaging Het
Psme4 A G 11: 30,803,272 (GRCm39) E38G probably benign Het
Qtrt2 T C 16: 43,687,788 (GRCm39) N264S probably benign Het
Ranbp2 G A 10: 58,300,265 (GRCm39) R557H probably benign Het
Rptor T A 11: 119,494,642 (GRCm39) S3T probably benign Het
Saxo1 T A 4: 86,406,019 (GRCm39) Y60F probably damaging Het
St3gal1 A G 15: 66,985,564 (GRCm39) V30A probably benign Het
Tmem245 G A 4: 56,925,149 (GRCm39) S324L probably benign Het
Topbp1 A G 9: 103,223,871 (GRCm39) probably benign Het
Urb1 T C 16: 90,589,636 (GRCm39) T382A possibly damaging Het
Vmn1r178 A T 7: 23,593,814 (GRCm39) L214F probably benign Het
Vmn2r82 G A 10: 79,231,921 (GRCm39) C640Y probably damaging Het
Vsx2 A G 12: 84,639,984 (GRCm39) D281G probably benign Het
Zfp804b A T 5: 6,820,013 (GRCm39) C1017S probably benign Het
Other mutations in Dhps
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02519:Dhps APN 8 85,799,928 (GRCm39) missense probably damaging 1.00
IGL02689:Dhps APN 8 85,800,379 (GRCm39) missense possibly damaging 0.86
R0648:Dhps UTSW 8 85,799,911 (GRCm39) splice site probably null
R2027:Dhps UTSW 8 85,799,240 (GRCm39) missense probably damaging 1.00
R5366:Dhps UTSW 8 85,801,413 (GRCm39) missense probably damaging 1.00
R5728:Dhps UTSW 8 85,799,964 (GRCm39) missense probably damaging 1.00
R5895:Dhps UTSW 8 85,800,880 (GRCm39) missense probably benign 0.35
R7243:Dhps UTSW 8 85,801,567 (GRCm39) missense probably benign 0.01
R7574:Dhps UTSW 8 85,799,181 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TCACCCAGGTTAGGTTGCTG -3'
(R):5'- TCTTACTATGCAGGTCCCCGAG -3'

Sequencing Primer
(F):5'- ACCCAGGTTAGGTTGCTGCTTAG -3'
(R):5'- ACCTCTGTGTTCTGCTCCAG -3'
Posted On 2016-07-06