Mutagenetix > Incidental Mutation

Incidental Mutation 'R8271:Dohh'

637729

Institutional Source

Beutler Lab

Gene Symbol

Dohh

Ensembl Gene

ENSMUSG00000078440

Gene Name

deoxyhypusine hydroxylase/monooxygenase

Synonyms

Hlrc1, 1110033C18Rik

MMRRC Submission

067652-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8271 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81220268-81224186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 81221844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 79 (Q79H)

Ref Sequence

ENSEMBL: ENSMUSP00000072534 (fasta)

Gene Model

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

AlphaFold

Q99LN9

Predicted Effect

probably benign
Transcript: ENSMUST00000072751
AA Change: Q79H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000072534
Gene: ENSMUSG00000078440
AA Change: Q79H

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

possibly damaging
Transcript: ENSMUST00000121047
AA Change: Q79H

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113112
Gene: ENSMUSG00000078440
AA Change: Q79H

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: 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 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: Q79H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000122952
Gene: ENSMUSG00000078440
AA Change: Q79H

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

possibly damaging
Transcript: ENSMUST00000144647
AA Change: Q79H

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116074
Gene: ENSMUSG00000113262
AA Change: Q79H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,736,212 (GRCm39)	I202L	probably benign	Het
Acadsb	A	T	7: 131,045,423 (GRCm39)	T452S	unknown	Het
Ago2	A	T	15: 72,991,315 (GRCm39)	L541Q	probably damaging	Het
Ap2a2	A	T	7: 141,200,812 (GRCm39)	E553V	probably damaging	Het
Astn2	T	C	4: 65,910,663 (GRCm39)	K442E	unknown	Het
Bicd1	A	G	6: 149,414,633 (GRCm39)	T449A	probably benign	Het
Btn1a1	T	A	13: 23,645,919 (GRCm39)	Q150L	probably benign	Het
C1ra	G	A	6: 124,499,610 (GRCm39)	G599R	probably damaging	Het
Camta2	T	A	11: 70,561,886 (GRCm39)	Q1076L	probably benign	Het
Capza2	T	A	6: 17,657,214 (GRCm39)	C157S	probably damaging	Het
Ccnk	A	G	12: 108,162,114 (GRCm39)		probably benign	Het
Chd3	T	A	11: 69,251,483 (GRCm39)	D516V	probably damaging	Het
Cntnap5b	A	G	1: 99,999,832 (GRCm39)	T197A	probably benign	Het
Comp	A	G	8: 70,829,110 (GRCm39)	N260S	probably damaging	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Ddx60	T	A	8: 62,393,142 (GRCm39)		probably null	Het
Defb22	C	T	2: 152,327,712 (GRCm39)	V158I	unknown	Het
Diaph3	T	C	14: 87,103,949 (GRCm39)	S812G	probably damaging	Het
Dyrk1b	T	G	7: 27,882,080 (GRCm39)	V147G	probably benign	Het
Fastkd2	C	T	1: 63,787,183 (GRCm39)	T539I	probably benign	Het
Itpr3	G	A	17: 27,306,622 (GRCm39)	D229N	probably damaging	Het
Kcnv1	A	T	15: 44,972,754 (GRCm39)	D376E	probably benign	Het
Kif13a	C	A	13: 46,906,057 (GRCm39)	V1577F	probably benign	Het
L3mbtl4	G	A	17: 68,793,938 (GRCm39)	R314H	probably damaging	Het
Mcoln2	A	C	3: 145,898,179 (GRCm39)	N100T	unknown	Het
Mdh1b	C	T	1: 63,759,164 (GRCm39)	V143M	possibly damaging	Het
Mfsd4b4	G	T	10: 39,768,101 (GRCm39)	Q377K	probably benign	Het
Mpv17l	T	C	16: 13,762,584 (GRCm39)	F122S	probably damaging	Het
Mylk	T	C	16: 34,742,949 (GRCm39)	S1154P	probably damaging	Het
Myo5b	A	G	18: 74,760,261 (GRCm39)	Y259C	probably damaging	Het
Nek1	G	A	8: 61,558,646 (GRCm39)	V931M	probably benign	Het
Nkd2	C	A	13: 73,969,437 (GRCm39)	G343V	probably damaging	Het
Obox8	T	A	7: 14,065,928 (GRCm39)	T197S	probably benign	Het
Or10j5	T	A	1: 172,784,744 (GRCm39)	C127*	probably null	Het
Or13g1	G	A	7: 85,955,962 (GRCm39)	R120C	probably benign	Het
Or4b1b	A	G	2: 90,112,616 (GRCm39)	F101S	possibly damaging	Het
Or5m11b	T	G	2: 85,806,085 (GRCm39)	M166R	probably benign	Het
Or5m11b	T	C	2: 85,805,766 (GRCm39)	Y60H	probably damaging	Het
Or5p57	A	G	7: 107,664,980 (GRCm39)	S342P	probably damaging	Het
Or5t7	T	A	2: 86,507,218 (GRCm39)	H153L	probably benign	Het
Palb2	A	T	7: 121,724,097 (GRCm39)	S551T	probably damaging	Het
Pcdha12	T	A	18: 37,154,953 (GRCm39)	D557E	probably damaging	Het
Pcdhb21	T	A	18: 37,648,921 (GRCm39)	D683E	probably benign	Het
Plekhb1	A	G	7: 100,305,936 (GRCm39)		probably benign	Het
Plekhg5	A	G	4: 152,187,464 (GRCm39)	N90D	probably damaging	Het
Pnpla1	A	G	17: 29,100,579 (GRCm39)	D482G	probably benign	Het
Rc3h1	A	T	1: 160,768,329 (GRCm39)		probably benign	Het
Rfpl4	C	T	7: 5,113,539 (GRCm39)	R214H	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Setd5	T	C	6: 113,092,031 (GRCm39)	I284T	possibly damaging	Het
Smurf1	C	T	5: 144,830,897 (GRCm39)	E293K	possibly damaging	Het
Tas2r106	A	T	6: 131,655,023 (GRCm39)	I276N	probably damaging	Het
Tbc1d2	C	A	4: 46,649,791 (GRCm39)	A82S	possibly damaging	Het
Tex19.2	A	G	11: 121,008,010 (GRCm39)	I146T	possibly damaging	Het
Tmem107	T	G	11: 68,962,281 (GRCm39)	N79K	probably damaging	Het
Tpsab1	A	T	17: 25,564,305 (GRCm39)	S50T	probably benign	Het
Ttn	T	A	2: 76,553,594 (GRCm39)	K31008*	probably null	Het
Ubox5	T	C	2: 130,441,629 (GRCm39)	T353A	probably benign	Het
Usp24	T	A	4: 106,285,711 (GRCm39)	H2445Q	probably damaging	Het
Uvrag	T	C	7: 98,537,698 (GRCm39)	D499G	probably benign	Het
Xndc1	A	T	7: 101,728,343 (GRCm39)	N247I	possibly damaging	Het
Yipf2	A	T	9: 21,501,291 (GRCm39)	W226R	probably damaging	Het
Zfp335	T	A	2: 164,739,973 (GRCm39)	Q793L	probably damaging	Het
Zfp385c	A	G	11: 100,548,291 (GRCm39)	S54P	probably damaging	Het
Zpld2	G	T	4: 133,930,278 (GRCm39)	T9K	unknown	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
R7687:Dohh	UTSW	10	81,223,640 (GRCm39)	missense	probably benign
R7980:Dohh	UTSW	10	81,223,726 (GRCm39)	nonsense	probably null
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'- TGCCATGGTAACGGAGCAAG -3'
(R):5'- TGGCATAGGTCCCAACTCAGAAG -3'

Sequencing Primer
(F):5'- AAGACCTTGGTGGACCCCAAG -3'
(R):5'- CTCAGAAGCAAAATCTCTGCTGGG -3'

Posted On

2020-07-28