Mutagenetix > Incidental Mutation

Incidental Mutation 'R5895:Dhps'

457451

Institutional Source

Beutler Lab

Gene Symbol

Dhps

Ensembl Gene

ENSMUSG00000060038

Gene Name

deoxyhypusine synthase

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85798386-85801791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 85800880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 240 (S240A)

Ref Sequence

ENSEMBL: ENSMUSP00000077733 (fasta)

Gene Model

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

AlphaFold

Q3TXU5

Predicted Effect

probably benign
Transcript: ENSMUST00000078665
AA Change: S240A

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000077733
Gene: ENSMUSG00000060038
AA Change: S240A

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: ENSMUST00000142422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145880

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142210

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

Meta Mutation Damage Score

0.2560

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.7%

Validation Efficiency

98% (64/65)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,752,216 (GRCm39)	G426S	probably damaging	Het
Casp4	A	T	9: 5,328,573 (GRCm39)		probably benign	Het
Ccdc40	T	A	11: 119,144,229 (GRCm39)	F988Y	probably damaging	Het
Ccdc9b	T	C	2: 118,590,098 (GRCm39)	T249A	probably benign	Het
Chd5	T	A	4: 152,464,389 (GRCm39)	V1516E	probably benign	Het
Chrnd	T	A	1: 87,123,389 (GRCm39)		probably null	Het
Col5a3	C	A	9: 20,683,738 (GRCm39)	G1506V	unknown	Het
Csgalnact2	A	T	6: 118,106,215 (GRCm39)	C34*	probably null	Het
Ddx23	T	C	15: 98,549,832 (GRCm39)	K195E	probably benign	Het
Dnah5	T	A	15: 28,234,599 (GRCm39)		probably null	Het
Dock10	T	C	1: 80,514,676 (GRCm39)	T1414A	probably benign	Het
Dock4	A	G	12: 40,805,812 (GRCm39)	D928G	probably damaging	Het
Dolpp1	T	C	2: 30,285,658 (GRCm39)		probably benign	Het
Dse	T	A	10: 34,028,601 (GRCm39)	I830F	probably damaging	Het
Elmod1	C	T	9: 53,843,091 (GRCm39)	R29Q	probably damaging	Het
Ephx4	T	A	5: 107,577,518 (GRCm39)		probably null	Het
Evi5	A	T	5: 107,968,302 (GRCm39)	M215K	probably damaging	Het
Fbxl4	T	C	4: 22,390,678 (GRCm39)	L287P	probably damaging	Het
Gbp9	G	A	5: 105,230,724 (GRCm39)	S400L	probably damaging	Het
Gm6291	T	C	18: 6,371,365 (GRCm39)		noncoding transcript	Het
Gmcl1	A	T	6: 86,688,596 (GRCm39)	D301E	probably benign	Het
Gna14	C	T	19: 16,580,692 (GRCm39)	R177C	possibly damaging	Het
Golph3	C	T	15: 12,339,756 (GRCm39)	R90C	probably damaging	Het
Gpr142	T	A	11: 114,689,785 (GRCm39)	C12*	probably null	Het
Hat1	T	A	2: 71,239,357 (GRCm39)	N43K	possibly damaging	Het
Hivep1	A	T	13: 42,310,694 (GRCm39)	E978V	possibly damaging	Het
Hormad1	G	A	3: 95,467,044 (GRCm39)		probably null	Het
Kalrn	C	T	16: 33,795,805 (GRCm39)		probably benign	Het
Mars1	T	C	10: 127,132,418 (GRCm39)	T860A	probably benign	Het
Mdn1	A	T	4: 32,695,400 (GRCm39)	L1146F	probably damaging	Het
Met	A	G	6: 17,531,581 (GRCm39)	T620A	probably benign	Het
Mppe1	T	C	18: 67,358,834 (GRCm39)	E378G	probably benign	Het
Mybpc3	T	A	2: 90,955,010 (GRCm39)	V481D	probably damaging	Het
Myh14	A	T	7: 44,256,133 (GRCm39)	L1924Q	probably damaging	Het
Mylip	G	T	13: 45,562,178 (GRCm39)	E327*	probably null	Het
Naip1	C	T	13: 100,559,636 (GRCm39)	G1123R	probably benign	Het
Naip6	A	G	13: 100,452,500 (GRCm39)	V187A	possibly damaging	Het
Ncam1	T	A	9: 49,418,343 (GRCm39)	T986S	probably benign	Het
Or13p4	T	C	4: 118,547,314 (GRCm39)	I112V	probably damaging	Het
Or4x13	T	C	2: 90,231,800 (GRCm39)	I265T	probably benign	Het
Phactr2	C	T	10: 13,121,261 (GRCm39)	G480S	probably damaging	Het
Por	A	G	5: 135,744,838 (GRCm39)	I34V	probably benign	Het
Ppp2r5b	C	T	19: 6,284,764 (GRCm39)	R33H	probably damaging	Het
Prkdc	C	A	16: 15,570,693 (GRCm39)	Y2325*	probably null	Het
Prx	A	G	7: 27,214,709 (GRCm39)	E73G	probably damaging	Het
Rbms2	C	A	10: 127,981,556 (GRCm39)	A126S	possibly damaging	Het
Rhoq	C	T	17: 87,302,117 (GRCm39)	A111V	probably damaging	Het
Rpl14	T	A	9: 120,403,240 (GRCm39)		probably benign	Het
Serbp1	A	G	6: 67,249,870 (GRCm39)	*75W	probably null	Het
Sptbn1	C	A	11: 30,073,978 (GRCm39)	V1351F	probably damaging	Het
Supt16	A	G	14: 52,401,979 (GRCm39)	V897A	probably benign	Het
Tfdp1	T	A	8: 13,407,038 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,780,487 (GRCm39)	Y1088F	probably damaging	Het
Vmn2r105	G	T	17: 20,448,929 (GRCm39)	Q83K	probably benign	Het
Wdr76	A	T	2: 121,359,323 (GRCm39)	S221C	probably damaging	Het
Zfhx2	G	T	14: 55,303,348 (GRCm39)	F1545L	probably benign	Het
Zfp318	A	G	17: 46,709,959 (GRCm39)	I561V	probably damaging	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
IGL02689:Dhps	APN	8	85,800,379 (GRCm39)	missense	possibly damaging	0.86
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCCATGTGTGGTTTTCCTC -3'
(R):5'- ATGATCATCCCAGAGCGCTTG -3'

Sequencing Primer
(F):5'- TGCCTCCACATGTAGAACAGAGG -3'
(R):5'- GAAAATGGCCTGCGTGT -3'

Posted On

2017-02-15