Incidental Mutation 'R9707:Dohh'
ID 729852
Institutional Source Beutler Lab
Gene Symbol Dohh
Ensembl Gene ENSMUSG00000078440
Gene Name deoxyhypusine hydroxylase/monooxygenase
Synonyms Hlrc1, 1110033C18Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9707 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 81220268-81224186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81223565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 206 (F206S)
Ref Sequence ENSEMBL: ENSMUSP00000072534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072751] [ENSMUST00000121047] [ENSMUST00000125635] [ENSMUST00000134592] [ENSMUST00000142346] [ENSMUST00000144647] [ENSMUST00000156229]
AlphaFold Q99LN9
Predicted Effect probably damaging
Transcript: ENSMUST00000072751
AA Change: F206S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072534
Gene: ENSMUSG00000078440
AA Change: F206S

DomainStartEndE-ValueType
EZ_HEAT 21 50 2.06e0 SMART
EZ_HEAT 52 81 1.11e-5 SMART
EZ_HEAT 85 114 4.84e-6 SMART
EZ_HEAT 173 202 6.64e-4 SMART
EZ_HEAT 204 233 4.31e-3 SMART
EZ_HEAT 237 266 2e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121047
SMART Domains Protein: ENSMUSP00000113112
Gene: ENSMUSG00000078440

DomainStartEndE-ValueType
EZ_HEAT 21 50 2.06e0 SMART
EZ_HEAT 52 81 1.11e-5 SMART
EZ_HEAT 85 114 4.84e-6 SMART
EZ_HEAT 173 202 4.18e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125635
Predicted Effect
SMART Domains Protein: ENSMUSP00000115416
Gene: ENSMUSG00000113262
AA Change: F63S

DomainStartEndE-ValueType
EZ_HEAT 31 60 6.64e-4 SMART
EZ_HEAT 62 91 4.31e-3 SMART
EZ_HEAT 95 124 2e-7 SMART
transmembrane domain 171 193 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134592
SMART Domains Protein: ENSMUSP00000120386
Gene: ENSMUSG00000078440

DomainStartEndE-ValueType
EZ_HEAT 21 50 2.06e0 SMART
EZ_HEAT 52 74 4.93e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142346
SMART Domains Protein: ENSMUSP00000122952
Gene: ENSMUSG00000078440

DomainStartEndE-ValueType
EZ_HEAT 21 50 2.06e0 SMART
EZ_HEAT 52 81 1.11e-5 SMART
EZ_HEAT 85 114 4.84e-6 SMART
internal_repeat_1 156 188 1.17e-6 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000144647
SMART Domains Protein: ENSMUSP00000116074
Gene: ENSMUSG00000113262

DomainStartEndE-ValueType
EZ_HEAT 21 50 2.06e0 SMART
EZ_HEAT 52 81 1.11e-5 SMART
EZ_HEAT 85 114 4.84e-6 SMART
EZ_HEAT 173 199 1.34e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156229
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a metalloenzyme that catalyzes the last step in the conversion of lysine to the unique amino acid hypusine in eukaryotic initiation factor 5A. The encoded protein hydroxylates deoxyhypusine to form hypusine in the mature eukaryotic initiation factor 5A protein. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for a null mutation die prior to organogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambra1 G A 2: 91,640,476 (GRCm39) R635H probably damaging Het
Amz1 T C 5: 140,733,949 (GRCm39) V175A possibly damaging Het
Arsj T C 3: 126,232,160 (GRCm39) I302T possibly damaging Het
Asxl3 A G 18: 22,656,304 (GRCm39) E1438G probably benign Het
BC016579 C T 16: 45,460,760 (GRCm39) E103K probably damaging Het
Ccdc54 T A 16: 50,411,163 (GRCm39) K34N possibly damaging Het
Chac2 T C 11: 30,929,572 (GRCm39) D55G possibly damaging Het
Cts3 T A 13: 61,714,649 (GRCm39) I219F possibly damaging Het
Des A G 1: 75,337,533 (GRCm39) M158V possibly damaging Het
Dst T C 1: 34,228,934 (GRCm39) S2176P probably benign Het
Ecpas C T 4: 58,824,816 (GRCm39) probably null Het
Epb41l2 G A 10: 25,378,235 (GRCm39) V836M probably damaging Het
Foxc1 A T 13: 31,991,882 (GRCm39) E231V probably damaging Het
Ighd T A 12: 113,378,108 (GRCm39) N164Y Het
Ighv1-53 A T 12: 115,122,035 (GRCm39) Y113* probably null Het
Ildr1 A G 16: 36,529,892 (GRCm39) D93G probably damaging Het
Krt79 T G 15: 101,839,196 (GRCm39) E424D probably benign Het
Lrp1 T C 10: 127,408,414 (GRCm39) E1754G probably benign Het
Mbd4 T A 6: 115,826,559 (GRCm39) H144L probably benign Het
Mcm7 C A 5: 138,170,000 (GRCm39) A7S probably benign Het
Mmp9 T A 2: 164,794,605 (GRCm39) N532K possibly damaging Het
Msr1 T G 8: 40,076,988 (GRCm39) E207D probably benign Het
Neurl4 A T 11: 69,799,679 (GRCm39) D994V probably damaging Het
Or1e35 A G 11: 73,798,090 (GRCm39) V76A possibly damaging Het
Or6c69b T C 10: 129,627,444 (GRCm39) T5A probably damaging Het
Or8s5 C T 15: 98,238,154 (GRCm39) V239I probably benign Het
Pcdhgb6 T C 18: 37,876,768 (GRCm39) I492T possibly damaging Het
Pde4c A G 8: 71,202,701 (GRCm39) D669G probably benign Het
Phf3 C A 1: 30,868,923 (GRCm39) probably null Het
Ptpn12 T A 5: 21,207,620 (GRCm39) T279S probably damaging Het
Rbbp6 A T 7: 122,589,061 (GRCm39) T287S probably damaging Het
Slc22a21 T C 11: 53,851,186 (GRCm39) N192S probably benign Het
Slc46a3 G T 5: 147,821,022 (GRCm39) H377N probably benign Het
Smg9 G T 7: 24,102,869 (GRCm39) R16L probably damaging Het
Spmip2 A G 3: 79,313,167 (GRCm39) I80M probably damaging Het
Synj1 A G 16: 90,758,300 (GRCm39) V848A possibly damaging Het
Taf7 A T 18: 37,776,053 (GRCm39) S171R probably damaging Het
Trav7-3 A G 14: 53,681,189 (GRCm39) E77G probably benign Het
Usp16 T C 16: 87,263,235 (GRCm39) S146P probably benign Het
Vmn1r22 A T 6: 57,877,890 (GRCm39) I29K probably benign Het
Zfp236 A G 18: 82,664,328 (GRCm39) C486R probably damaging Het
Zfp329 T C 7: 12,544,129 (GRCm39) Q465R probably benign Het
Other mutations in Dohh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00984:Dohh APN 10 81,223,756 (GRCm39) splice site probably null
R0331:Dohh UTSW 10 81,223,646 (GRCm39) missense probably benign 0.03
R5243:Dohh UTSW 10 81,223,203 (GRCm39) missense probably benign 0.00
R7209:Dohh UTSW 10 81,221,874 (GRCm39) missense probably damaging 1.00
R7687:Dohh UTSW 10 81,223,640 (GRCm39) missense probably benign
R7980:Dohh UTSW 10 81,223,726 (GRCm39) nonsense probably null
R8271:Dohh UTSW 10 81,221,844 (GRCm39) missense probably benign 0.00
R8711:Dohh UTSW 10 81,221,859 (GRCm39) missense probably benign 0.00
R8900:Dohh UTSW 10 81,223,735 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATCTCTTGTGCAGCCTGAG -3'
(R):5'- TCAGGGTCCTCAATGTGCTCTC -3'

Sequencing Primer
(F):5'- CTGAGGGGCAGCTGTCC -3'
(R):5'- TGCTCTCGCAATGCAGC -3'
Posted On 2022-10-06