Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02689:Dhps'

303663

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dhps

Ensembl Gene

ENSMUSG00000060038

Gene Name

deoxyhypusine synthase

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02689

Quality Score

Status

Chromosome

Chromosomal Location

85798386-85801791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85800379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 221 (Y221H)

Ref Sequence

ENSEMBL: ENSMUSP00000077733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078665] [ENSMUST00000093357] [ENSMUST00000152871] [ENSMUST00000152785] [ENSMUST00000149050]

AlphaFold

Q3TXU5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078665
AA Change: Y221H

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077733
Gene: ENSMUSG00000060038
AA Change: Y221H

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
Pfam:DS	44	354	7.1e-136	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093357

SMART Domains

Protein: ENSMUSP00000091048
Gene: ENSMUSG00000005150

Domain	Start	End	E-Value	Type
WD40	14	53	1.05e-7	SMART
WD40	56	95	8.42e-7	SMART
WD40	98	137	8.1e-9	SMART
WD40	142	179	5.52e-2	SMART
WD40	182	219	1.66e0	SMART
WD40	222	263	7e-4	SMART
WD40	266	304	4.75e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145880

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152186

Predicted Effect

probably benign
Transcript: ENSMUST00000152871

SMART Domains

Protein: ENSMUSP00000120308
Gene: ENSMUSG00000060038

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
Pfam:DS	59	142	1.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152785

SMART Domains

Protein: ENSMUSP00000122127
Gene: ENSMUSG00000005150

Domain	Start	End	E-Value	Type
WD40	14	53	1.05e-7	SMART
WD40	56	95	8.42e-7	SMART
WD40	140	177	5.52e-2	SMART
WD40	180	217	1.66e0	SMART
WD40	220	261	7e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149050

SMART Domains

Protein: ENSMUSP00000121568
Gene: ENSMUSG00000005150

Domain	Start	End	E-Value	Type
WD40	14	53	1.05e-7	SMART
WD40	56	95	8.42e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142201

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 protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation factor 5A. The encoded protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of the eukaryotic translation initiation factor 5A precursor, forming an intermediate deoxyhypusine residue. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E8.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	G	T	4: 86,835,692 (GRCm39)	A235S	probably benign	Het
Add2	A	G	6: 86,084,388 (GRCm39)	I479V	possibly damaging	Het
Anapc11	T	A	11: 120,490,168 (GRCm39)	M28K	probably benign	Het
Anapc15-ps	T	C	10: 95,508,993 (GRCm39)	S87G	probably benign	Het
Atraid	T	C	5: 31,209,826 (GRCm39)	L46P	probably damaging	Het
Ccdc80	T	A	16: 44,916,772 (GRCm39)	Y509*	probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cecr2	T	A	6: 120,739,128 (GRCm39)	L1257Q	probably damaging	Het
Csn1s2b	A	G	5: 87,957,780 (GRCm39)	I5V	probably benign	Het
Dmxl1	T	C	18: 49,997,962 (GRCm39)	S717P	probably damaging	Het
Dppa5a	G	T	9: 78,275,113 (GRCm39)	S63Y	probably damaging	Het
Eif3l	A	T	15: 78,970,719 (GRCm39)	D331V	possibly damaging	Het
Folh1	G	T	7: 86,412,253 (GRCm39)		probably null	Het
Gbp9	G	T	5: 105,253,662 (GRCm39)	Q18K	probably benign	Het
Grm5	A	G	7: 87,251,918 (GRCm39)	K56R	probably damaging	Het
H2-M3	T	A	17: 37,581,432 (GRCm39)	Y31*	probably null	Het
Herc2	T	C	7: 55,815,031 (GRCm39)		probably benign	Het
Itga7	G	T	10: 128,782,687 (GRCm39)	A675S	possibly damaging	Het
Lipo5	G	A	19: 33,445,186 (GRCm39)	H128Y	unknown	Het
Or2bd2	T	C	7: 6,443,574 (GRCm39)	L225P	possibly damaging	Het
Or5b121	A	G	19: 13,507,171 (GRCm39)	I89V	probably benign	Het
Pdk4	C	T	6: 5,487,408 (GRCm39)	V281I	probably benign	Het
Pkn3	G	A	2: 29,970,858 (GRCm39)	G202D	probably damaging	Het
Rcbtb1	A	G	14: 59,462,149 (GRCm39)	N260S	probably damaging	Het
Sipa1l1	T	C	12: 82,487,594 (GRCm39)	F1623L	probably benign	Het
Slfn8	A	G	11: 82,907,934 (GRCm39)	F203S	probably damaging	Het
St6gal2	T	C	17: 55,789,596 (GRCm39)	L210S	probably damaging	Het
Taf5	T	C	19: 47,065,704 (GRCm39)		probably benign	Het
Taok2	A	G	7: 126,475,270 (GRCm39)	F226S	probably damaging	Het
Timm10b	A	G	7: 105,289,839 (GRCm39)		probably benign	Het
Tmx3	A	G	18: 90,555,240 (GRCm39)	N319S	possibly damaging	Het
Trmt1	G	T	8: 85,426,385 (GRCm39)		probably benign	Het

Other mutations in Dhps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02519:Dhps	APN	8	85,799,928 (GRCm39)	missense	probably damaging	1.00
R0648:Dhps	UTSW	8	85,799,911 (GRCm39)	splice site	probably null
R2027:Dhps	UTSW	8	85,799,240 (GRCm39)	missense	probably damaging	1.00
R5199:Dhps	UTSW	8	85,800,035 (GRCm39)	missense	probably damaging	1.00
R5366:Dhps	UTSW	8	85,801,413 (GRCm39)	missense	probably damaging	1.00
R5728:Dhps	UTSW	8	85,799,964 (GRCm39)	missense	probably damaging	1.00
R5895:Dhps	UTSW	8	85,800,880 (GRCm39)	missense	probably benign	0.35
R7243:Dhps	UTSW	8	85,801,567 (GRCm39)	missense	probably benign	0.01
R7574:Dhps	UTSW	8	85,799,181 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16