Incidental Mutation 'R7209:Dohh'
ID560944
Institutional Source Beutler Lab
Gene Symbol Dohh
Ensembl Gene ENSMUSG00000078440
Gene Namedeoxyhypusine hydroxylase/monooxygenase
Synonyms1110033C18Rik, Hlrc1
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7209 (G1)
Quality Score225.009
Status Validated
Chromosome10
Chromosomal Location81384428-81388352 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 81386040 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 89 (H89Q)
Ref Sequence ENSEMBL: ENSMUSP00000072534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072751] [ENSMUST00000121047] [ENSMUST00000125635] [ENSMUST00000134592] [ENSMUST00000142346] [ENSMUST00000144647] [ENSMUST00000156229]
Predicted Effect probably damaging
Transcript: ENSMUST00000072751
AA Change: H89Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072534
Gene: ENSMUSG00000078440
AA Change: H89Q

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 damaging
Transcript: ENSMUST00000121047
AA Change: H89Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113112
Gene: ENSMUSG00000078440
AA Change: H89Q

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 probably benign
Transcript: ENSMUST00000131968
SMART Domains Protein: ENSMUSP00000115416
Gene: ENSMUSG00000113262

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 damaging
Transcript: ENSMUST00000142346
AA Change: H89Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122952
Gene: ENSMUSG00000078440
AA Change: H89Q

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 damaging
Transcript: ENSMUST00000144647
AA Change: H89Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116074
Gene: ENSMUSG00000113262
AA Change: H89Q

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (67/67)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik C A 1: 105,750,357 P1136T probably damaging Het
4933428G20Rik G C 11: 97,492,447 probably null Het
Adam7 A G 14: 68,529,819 Y61H probably damaging Het
Adgrb1 T G 15: 74,569,948 V966G possibly damaging Het
Adh5 G A 3: 138,443,148 probably benign Het
Akr1b8 T C 6: 34,356,272 V28A probably damaging Het
Apbb1 T A 7: 105,566,085 I450F probably damaging Het
Arhgap23 C T 11: 97,476,085 T1064I probably damaging Het
Atg4b A G 1: 93,775,233 I128M probably damaging Het
B230118H07Rik T C 2: 101,566,382 *217W probably null Het
Baat A T 4: 49,503,065 I19N probably damaging Het
Bspry T G 4: 62,486,615 I216S possibly damaging Het
Commd9 T A 2: 101,895,138 S19T possibly damaging Het
Cr2 A G 1: 195,168,724 C145R probably damaging Het
Cyp2c68 A G 19: 39,689,205 L447P probably damaging Het
Depdc1b T C 13: 108,382,855 M333T possibly damaging Het
Dhx9 T C 1: 153,464,623 T710A possibly damaging Het
Dnah5 T C 15: 28,459,225 V4530A possibly damaging Het
Dopey2 T A 16: 93,769,845 N1171K probably benign Het
Dscam T C 16: 96,650,344 probably null Het
Entpd5 T A 12: 84,396,928 S14C probably benign Het
Eqtn G A 4: 94,925,569 S125F probably damaging Het
Erp44 A T 4: 48,211,704 D197E probably benign Het
Fgf18 A T 11: 33,134,315 D46E probably benign Het
Foxa1 T A 12: 57,543,291 M48L probably benign Het
Gabrg1 C A 5: 70,754,170 C417F probably damaging Het
Glrp1 T A 1: 88,503,282 Q122L unknown Het
Gm5286 A T 3: 94,198,705 Q110L probably benign Het
Gm5622 A G 14: 51,655,906 I97V possibly damaging Het
Gusb A G 5: 129,998,546 V306A probably benign Het
Hars A G 18: 36,773,540 S126P probably benign Het
Herc1 A G 9: 66,385,032 S356G possibly damaging Het
Hydin C A 8: 110,489,792 Y1336* probably null Het
Kin T C 2: 10,091,753 Y138H possibly damaging Het
Lypd2 C T 15: 74,732,417 V101M probably benign Het
Madcam1 A T 10: 79,665,058 T70S possibly damaging Het
Man1a2 A G 3: 100,647,079 C112R unknown Het
Mia2 T A 12: 59,154,390 V198E possibly damaging Het
Mpdz C T 4: 81,306,877 V1438M possibly damaging Het
Mtif2 G A 11: 29,529,996 V21M probably benign Het
Nbeal1 G C 1: 60,237,151 V684L probably benign Het
Nln G A 13: 104,072,898 Q56* probably null Het
Nlrp4b T C 7: 10,710,370 V82A probably benign Het
Obscn C A 11: 59,085,107 E2065* probably null Het
Olfr1510 A G 14: 52,410,093 C260R possibly damaging Het
Pilrb2 C T 5: 137,870,864 probably null Het
Plekhh1 C A 12: 79,050,376 D99E probably benign Het
Polr2b T A 5: 77,343,179 F956I probably damaging Het
Ppp3cc A G 14: 70,267,498 F20L probably benign Het
Prmt9 T C 8: 77,564,998 V333A probably benign Het
Psd4 T C 2: 24,397,345 S430P probably damaging Het
Rrp12 A C 19: 41,872,949 V973G possibly damaging Het
Rxfp2 A G 5: 150,053,098 probably null Het
S100a6 G A 3: 90,613,788 A8T possibly damaging Het
Sgsm2 C A 11: 74,854,325 G717V probably damaging Het
Sipa1 A G 19: 5,654,975 Y531H probably damaging Het
Slc45a1 A C 4: 150,635,212 probably null Het
Srbd1 C A 17: 86,001,520 L743F probably damaging Het
Taar2 A T 10: 23,940,699 I46F possibly damaging Het
Tcrg-C3 A G 13: 19,261,164 N94S probably benign Het
Tmem241 A T 18: 12,104,172 V69D probably damaging Het
Tns1 T C 1: 73,953,915 S535G possibly damaging Het
Ttc34 C A 4: 154,839,128 P98Q probably damaging Het
Ubr1 C A 2: 120,862,765 R1720L probably benign Het
Ubr3 T A 2: 70,016,134 D1597E probably benign Het
Unc79 T C 12: 103,125,624 M1930T probably benign Het
Vmn2r100 A T 17: 19,531,314 I603F not run Het
Vps26b A T 9: 27,009,992 S304T probably benign Het
Zfp952 A T 17: 33,003,470 T308S possibly damaging Het
Other mutations in Dohh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00984:Dohh APN 10 81387922 unclassified probably null
R0331:Dohh UTSW 10 81387812 missense probably benign 0.03
R5243:Dohh UTSW 10 81387369 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCCATGGTAACGGAGCAAG -3'
(R):5'- AGCATTCCAAGTCCCTGAAG -3'

Sequencing Primer
(F):5'- AAGACCTTGGTGGACCCCAAG -3'
(R):5'- GAACAGGTTGGCATAGGTCCC -3'
Posted On2019-06-26