Mutagenetix > Incidental Mutation

Incidental Mutation 'R5243:Dohh'

400997

Institutional Source

Beutler Lab

Gene Symbol

Dohh

Ensembl Gene

ENSMUSG00000078440

Gene Name

deoxyhypusine hydroxylase/monooxygenase

Synonyms

Hlrc1, 1110033C18Rik

MMRRC Submission

042814-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5243 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81220268-81224186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81223203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 161 (R161G)

Ref Sequence

ENSEMBL: ENSMUSP00000113112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072751] [ENSMUST00000121047] [ENSMUST00000125635] [ENSMUST00000134592] [ENSMUST00000142346] [ENSMUST00000144647] [ENSMUST00000156229]

AlphaFold

Q99LN9

Predicted Effect

probably benign
Transcript: ENSMUST00000072751
AA Change: R161G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072534
Gene: ENSMUSG00000078440
AA Change: R161G

Domain	Start	End	E-Value	Type
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
AA Change: R161G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113112
Gene: ENSMUSG00000078440
AA Change: R161G

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000131968
AA Change: R18G

SMART Domains

Protein: ENSMUSP00000115416
Gene: ENSMUSG00000113262
AA Change: R18G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
EZ_HEAT	21	50	2.06e0	SMART
EZ_HEAT	52	74	4.93e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142346
AA Change: R161G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122952
Gene: ENSMUSG00000078440
AA Change: R161G

Domain	Start	End	E-Value	Type
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
AA Change: R161G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116074
Gene: ENSMUSG00000113262
AA Change: R161G

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184244

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

95% (62/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,956,543 (GRCm39)		probably null	Het
Aatk	A	G	11: 119,907,594 (GRCm39)	L78P	probably damaging	Het
Acadsb	T	A	7: 131,045,972 (GRCm39)	I412K	probably damaging	Het
Acer3	T	C	7: 97,867,277 (GRCm39)	R246G	possibly damaging	Het
Atp1a3	T	A	7: 24,693,994 (GRCm39)	I387F	probably damaging	Het
Atp6v1b2	A	T	8: 69,556,391 (GRCm39)	M300L	probably benign	Het
Aurkb	T	A	11: 68,936,752 (GRCm39)		probably benign	Het
Card10	C	A	15: 78,664,872 (GRCm39)	G694V	possibly damaging	Het
Ccdc171	A	G	4: 83,522,344 (GRCm39)	N336S	probably damaging	Het
Copg2	T	C	6: 30,750,626 (GRCm39)	T720A	probably benign	Het
Coro2a	A	T	4: 46,545,620 (GRCm39)	W272R	probably damaging	Het
Cpne6	T	A	14: 55,750,204 (GRCm39)	C112S	probably damaging	Het
Ddx21	A	G	10: 62,437,992 (GRCm39)	M1T	probably null	Het
Dsc1	A	C	18: 20,232,216 (GRCm39)	V264G	probably damaging	Het
E4f1	A	T	17: 24,666,292 (GRCm39)	C198S	probably damaging	Het
Evpl	T	A	11: 116,113,795 (GRCm39)	E1298D	probably damaging	Het
Grid2ip	A	T	5: 143,363,260 (GRCm39)	I246F	probably damaging	Het
H2-M1	A	G	17: 36,982,193 (GRCm39)	F136S	possibly damaging	Het
Hck	T	C	2: 152,986,412 (GRCm39)	V387A	probably damaging	Het
Hdac1	G	A	4: 129,410,646 (GRCm39)		probably benign	Het
Hydin	A	C	8: 111,232,380 (GRCm39)	Q1633P	possibly damaging	Het
Igkv12-41	A	G	6: 69,835,686 (GRCm39)	I22T	probably damaging	Het
Ints3	CA	CAA	3: 90,308,451 (GRCm39)		probably null	Het
Itpr2	C	G	6: 146,089,044 (GRCm39)	W2188C	probably damaging	Het
Kcnt1	A	G	2: 25,798,086 (GRCm39)	E899G	probably damaging	Het
Lgals8	C	A	13: 12,469,645 (GRCm39)	V12L	probably benign	Het
Lgr6	T	C	1: 135,037,010 (GRCm39)		probably benign	Het
Lrrc8b	T	G	5: 105,628,812 (GRCm39)	I386S	probably damaging	Het
Mks1	T	C	11: 87,747,504 (GRCm39)		probably benign	Het
Mon1b	A	G	8: 114,364,553 (GRCm39)	D110G	possibly damaging	Het
Mpdz	G	T	4: 81,225,116 (GRCm39)	A1437E	probably damaging	Het
Nbeal1	T	A	1: 60,309,487 (GRCm39)	N1753K	probably damaging	Het
Nceh1	T	C	3: 27,295,837 (GRCm39)	V366A	probably damaging	Het
Ncor1	A	T	11: 62,229,788 (GRCm39)	D893E	probably damaging	Het
Npc1	T	A	18: 12,331,688 (GRCm39)		probably benign	Het
Or1j15	T	C	2: 36,458,655 (GRCm39)	L15P	probably damaging	Het
Or9i1b	A	G	19: 13,897,025 (GRCm39)	I214V	probably damaging	Het
Podxl2	T	C	6: 88,826,356 (GRCm39)	T317A	probably benign	Het
Prl8a9	T	G	13: 27,746,446 (GRCm39)	Q54P	probably damaging	Het
Prpf31	C	T	7: 3,641,753 (GRCm39)	R351*	probably null	Het
Pspc1	C	T	14: 57,001,648 (GRCm39)	G242D	probably damaging	Het
Rbmxl2	G	C	7: 106,809,044 (GRCm39)	G110R	probably damaging	Het
Rif1	T	A	2: 52,001,836 (GRCm39)	H1763Q	possibly damaging	Het
Rpusd3	T	C	6: 113,395,025 (GRCm39)	T85A	probably benign	Het
Rttn	A	G	18: 89,126,187 (GRCm39)	I1853M	possibly damaging	Het
Sacs	T	A	14: 61,443,406 (GRCm39)	C1817*	probably null	Het
Scrib	A	T	15: 75,937,101 (GRCm39)	V335E	probably benign	Het
Sdk2	A	G	11: 113,715,912 (GRCm39)	L1549P	possibly damaging	Het
Slc25a11	C	T	11: 70,536,924 (GRCm39)	G44S	probably damaging	Het
Slc6a3	A	G	13: 73,719,570 (GRCm39)	Y533C	possibly damaging	Het
Slc7a5	A	G	8: 122,623,274 (GRCm39)	V191A	probably damaging	Het
Son	A	G	16: 91,451,621 (GRCm39)	K123E	probably damaging	Het
Tcstv3	T	A	13: 120,779,125 (GRCm39)	M8K	probably benign	Het
Tie1	A	G	4: 118,339,548 (GRCm39)	V411A	probably damaging	Het
Upk3bl	C	A	5: 136,088,977 (GRCm39)	D1E	possibly damaging	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Vmn2r75	T	C	7: 85,813,447 (GRCm39)	N452D	probably damaging	Het
Wnk2	T	A	13: 49,226,054 (GRCm39)	N1043I	possibly damaging	Het
Zfp407	A	T	18: 84,579,216 (GRCm39)	H632Q	probably damaging	Het
Zfp423	T	C	8: 88,500,275 (GRCm39)	K1174R	probably benign	Het

Other mutations in Dohh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9707:Dohh	UTSW	10	81,223,565 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTATCAGGACCCATAGCTGC -3'
(R):5'- AGGTAAAGTCCCCAGGGTTTG -3'

Sequencing Primer
(F):5'- AGGACCCATAGCTGCCTCTTTC -3'
(R):5'- AAAGTCCCCAGGGTTTGTGTGG -3'

Posted On

2016-07-06