Mutagenetix > Incidental Mutation

Incidental Mutation 'R7687:Dohh'

593159

Institutional Source

Beutler Lab

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 #

R7687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81220268-81224186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 81223640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 231 (A231E)

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 benign
Transcript: ENSMUST00000072751
AA Change: A231E

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

SMART Domains

Protein: ENSMUSP00000072534
Gene: ENSMUSG00000078440
AA Change: A231E

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

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

SMART Domains

Protein: ENSMUSP00000115416
Gene: ENSMUSG00000113262
AA Change: A88E

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

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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,297,341 (GRCm39)	K2383R	probably benign	Het
Acly	C	T	11: 100,395,680 (GRCm39)		probably null	Het
Baiap3	T	A	17: 25,468,311 (GRCm39)	I276F	possibly damaging	Het
Cdc14b	A	T	13: 64,357,007 (GRCm39)	D419E	probably benign	Het
Celsr2	G	T	3: 108,305,085 (GRCm39)	P2165T	probably benign	Het
Clk4	A	G	11: 51,172,225 (GRCm39)	D476G	probably benign	Het
Dera	A	G	6: 137,813,878 (GRCm39)	T10A		Het
Dip2c	A	T	13: 9,654,617 (GRCm39)	T742S	probably benign	Het
Dot1l	T	G	10: 80,625,202 (GRCm39)	S1150A	possibly damaging	Het
Eea1	T	A	10: 95,862,460 (GRCm39)	I794N	probably benign	Het
En2	T	C	5: 28,375,287 (GRCm39)	S277P	probably damaging	Het
Erich1	A	G	8: 14,080,691 (GRCm39)	L276P	probably damaging	Het
Flnb	A	G	14: 7,924,224 (GRCm38)	N1779S	probably damaging	Het
Frzb	T	A	2: 80,254,979 (GRCm39)	T186S	probably benign	Het
Gdf7	T	A	12: 8,348,257 (GRCm39)	R347*	probably null	Het
Ighv9-4	T	C	12: 114,263,883 (GRCm39)	I17V	not run	Het
Ipo13	G	A	4: 117,769,088 (GRCm39)	P235S	probably benign	Het
Itga2	C	A	13: 115,002,796 (GRCm39)	G565C	probably damaging	Het
Kcnc4	CCCGCCGCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGCCGCCGCCGCCGC	3: 107,365,925 (GRCm39)		probably benign	Het
Kcnk10	A	G	12: 98,401,355 (GRCm39)	I440T	probably damaging	Het
Kdm3a	T	A	6: 71,576,476 (GRCm39)	K779N	possibly damaging	Het
Kmt2d	C	T	15: 98,760,001 (GRCm39)	D1086N	unknown	Het
Kntc1	A	G	5: 123,897,152 (GRCm39)	I172V	probably benign	Het
Maip1	A	G	1: 57,451,003 (GRCm39)	E215G	probably damaging	Het
Mms19	A	T	19: 41,943,607 (GRCm39)	M417K	possibly damaging	Het
Mslnl	T	C	17: 25,962,157 (GRCm39)	V185A	probably damaging	Het
Naa11	A	T	5: 97,539,648 (GRCm39)	V170E	probably benign	Het
Ncapg	C	T	5: 45,857,227 (GRCm39)	P980S	probably benign	Het
Or2aj5	T	C	16: 19,424,485 (GRCm39)	N310S	probably benign	Het
Pbxip1	A	G	3: 89,355,506 (GRCm39)	D675G	probably damaging	Het
Pdlim5	A	G	3: 141,983,608 (GRCm39)	S382P	probably benign	Het
Pkd1l1	T	A	11: 8,804,390 (GRCm39)	I2184F		Het
Plau	A	G	14: 20,889,866 (GRCm39)	Y237C	probably damaging	Het
Ppl	T	C	16: 4,915,806 (GRCm39)	T586A	probably benign	Het
Rapgef6	T	G	11: 54,551,901 (GRCm39)	I923S	possibly damaging	Het
Rbfox2	C	T	15: 77,190,694 (GRCm39)	G17D	unknown	Het
Sema3b	T	C	9: 107,481,013 (GRCm39)	D108G	probably damaging	Het
Slc6a20a	A	G	9: 123,485,331 (GRCm39)	I297T	probably damaging	Het
Slit1	A	G	19: 41,639,128 (GRCm39)	F261L	probably benign	Het
Tcp10a	T	A	17: 7,612,507 (GRCm39)	V433D	probably damaging	Het
Tktl2	A	G	8: 66,965,753 (GRCm39)	E437G	probably damaging	Het
Tll1	G	T	8: 64,574,526 (GRCm39)	Y109*	probably null	Het
Tmem79	A	G	3: 88,239,888 (GRCm39)	V274A	probably damaging	Het
Tnfrsf23	G	A	7: 143,235,199 (GRCm39)	S55L	probably benign	Het
Ubd	T	C	17: 37,504,865 (GRCm39)		probably null	Het
Ubl3	C	A	5: 148,442,985 (GRCm39)	R105L	possibly damaging	Het
Ubl7	A	T	9: 57,821,867 (GRCm39)	D72V	probably damaging	Het
Wdr55	T	C	18: 36,895,076 (GRCm39)	S81P	probably damaging	Het
Wtip	T	C	7: 33,816,044 (GRCm39)	Y344C	probably damaging	Het
Zfp488	A	G	14: 33,692,357 (GRCm39)	S269P	possibly damaging	Het
Zkscan2	A	C	7: 123,099,085 (GRCm39)	S36A	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
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
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'- GGACTTTACCTGGCTGCCTAAC -3'
(R):5'- ATACTGGAAATCCTGGCTGC -3'

Sequencing Primer
(F):5'- ACCTGGCTGCCTAACCATAGTG -3'
(R):5'- GGAAATCCTGGCTGCTCTCATAC -3'

Posted On

2019-11-12