Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00984:Dohh'

28436

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dohh

Ensembl Gene

ENSMUSG00000078440

Gene Name

deoxyhypusine hydroxylase/monooxygenase

Synonyms

Hlrc1, 1110033C18Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00984

Quality Score

Status

Chromosome

Chromosomal Location

81220268-81224186 bp(+) (GRCm39)

Type of Mutation

splice site (471 bp from exon)

DNA Base Change (assembly)

G to A at 81223756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122952 (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: V270M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072534
Gene: ENSMUSG00000078440
AA Change: V270M

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 null
Transcript: ENSMUST00000121047

SMART Domains

Protein: ENSMUSP00000113112
Gene: ENSMUSG00000078440

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

probably benign
Transcript: ENSMUST00000131968

SMART Domains

Protein: ENSMUSP00000115416
Gene: ENSMUSG00000113262

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 null
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 null
Transcript: ENSMUST00000142346

SMART Domains

Protein: ENSMUSP00000122952
Gene: ENSMUSG00000078440

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

SMART Domains

Protein: ENSMUSP00000116074
Gene: ENSMUSG00000113262

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

noncoding transcript
Transcript: ENSMUST00000145416

Predicted Effect

probably benign
Transcript: ENSMUST00000156229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184244

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 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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	T	A	8: 43,973,410 (GRCm39)	N531Y	possibly damaging	Het
Adamts12	G	A	15: 11,215,696 (GRCm39)	R239K	probably benign	Het
Alppl2	T	A	1: 87,016,534 (GRCm39)	H180L	probably damaging	Het
Atp10a	T	C	7: 58,308,489 (GRCm39)	V96A	probably damaging	Het
Atp2c1	T	A	9: 105,295,778 (GRCm39)	I649F	probably damaging	Het
Atp6v1h	A	G	1: 5,165,905 (GRCm39)	Y125C	probably damaging	Het
Cds2	T	C	2: 132,140,441 (GRCm39)	V213A	probably benign	Het
Csnk1a1	A	G	18: 61,708,624 (GRCm39)		probably benign	Het
Ctdspl2	C	T	2: 121,799,767 (GRCm39)		probably benign	Het
Dst	A	T	1: 34,295,401 (GRCm39)	D5971V	probably damaging	Het
Focad	G	T	4: 88,263,022 (GRCm39)	M1006I	unknown	Het
Garin5b	C	T	7: 4,760,526 (GRCm39)	V729M	probably damaging	Het
Iqgap1	T	C	7: 80,376,546 (GRCm39)	D1322G	probably damaging	Het
Mcm3ap	G	T	10: 76,335,400 (GRCm39)	S1274I	probably damaging	Het
Mrpl42	C	T	10: 95,326,202 (GRCm39)	V97I	probably benign	Het
Or4p21	A	T	2: 88,276,539 (GRCm39)	F248I	probably damaging	Het
Pabpc6	A	T	17: 9,887,618 (GRCm39)	L311H	probably damaging	Het
Pdzrn3	A	T	6: 101,331,447 (GRCm39)	S276T	probably benign	Het
Pi4ka	A	T	16: 17,176,796 (GRCm39)	C383*	probably null	Het
Pik3r6	A	G	11: 68,424,445 (GRCm39)	D350G	probably benign	Het
Ptcd1	C	T	5: 145,102,239 (GRCm39)	V27I	probably benign	Het
Ranbp2	A	T	10: 58,297,786 (GRCm39)	R398*	probably null	Het
Rpl3l	T	C	17: 24,954,445 (GRCm39)	C336R	probably damaging	Het
Rxfp2	T	C	5: 149,990,597 (GRCm39)	S443P	probably benign	Het
Sec24b	T	C	3: 129,814,295 (GRCm39)		probably benign	Het
Septin11	T	C	5: 93,310,043 (GRCm39)	M282T	possibly damaging	Het
Syt16	C	T	12: 74,269,604 (GRCm39)	Q148*	probably null	Het
Timm23	A	G	14: 31,902,612 (GRCm39)	I177T	probably benign	Het
Treh	A	G	9: 44,594,264 (GRCm39)		probably benign	Het
Vmn1r71	A	G	7: 10,482,046 (GRCm39)	V214A	probably damaging	Het
Zfp715	G	A	7: 42,949,208 (GRCm39)	P251S	probably benign	Het

Other mutations in Dohh

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

Posted On

2013-04-17