Mutagenetix > Incidental Mutation

Incidental Mutation 'R2027:Dhps'

220810

Institutional Source

Beutler Lab

Gene Symbol

Dhps

Ensembl Gene

ENSMUSG00000060038

Gene Name

deoxyhypusine synthase

Synonyms

MMRRC Submission

040035-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85798386-85801791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85799240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 140 (N140Y)

Ref Sequence

ENSEMBL: ENSMUSP00000120308 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078665] [ENSMUST00000093357] [ENSMUST00000152871] [ENSMUST00000177563] [ENSMUST00000152785] [ENSMUST00000149050]

AlphaFold

Q3TXU5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078665
AA Change: N123Y

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077733
Gene: ENSMUSG00000060038
AA Change: N123Y

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

probably damaging
Transcript: ENSMUST00000152871
AA Change: N140Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120308
Gene: ENSMUSG00000060038
AA Change: N140Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145880

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152186

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142210

Predicted Effect

probably benign
Transcript: ENSMUST00000142201

Predicted Effect

probably benign
Transcript: ENSMUST00000177563

SMART Domains

Protein: ENSMUSP00000136655
Gene: ENSMUSG00000095845

Domain	Start	End	E-Value	Type
G_gamma	7	72	2.19e-22	SMART
GGL	11	72	6.32e-27	SMART

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

Meta Mutation Damage Score

0.3533

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	C	9: 99,502,254 (GRCm39)	V138A	possibly damaging	Het
Aatk	A	G	11: 119,900,143 (GRCm39)	S1291P	probably damaging	Het
Adgrv1	C	T	13: 81,743,301 (GRCm39)	V67M	probably damaging	Het
Apoa4	G	A	9: 46,154,298 (GRCm39)	V300M	probably damaging	Het
Bcl2a1d	A	T	9: 88,613,438 (GRCm39)	V112E	possibly damaging	Het
Bltp1	T	A	3: 37,102,110 (GRCm39)		probably benign	Het
Cabp2	T	A	19: 4,137,126 (GRCm39)	M166K	probably damaging	Het
Camsap1	A	G	2: 25,828,538 (GRCm39)	V1062A	possibly damaging	Het
Cap1	T	G	4: 122,756,686 (GRCm39)		probably benign	Het
Caprin2	A	G	6: 148,779,385 (GRCm39)	Y141H	probably damaging	Het
Card11	T	C	5: 140,892,522 (GRCm39)	Y181C	probably damaging	Het
Ccdc107	T	C	4: 43,495,874 (GRCm39)	V259A	probably benign	Het
Ccn4	A	G	15: 66,789,258 (GRCm39)	E248G	possibly damaging	Het
Chd9	A	G	8: 91,634,619 (GRCm39)		probably benign	Het
Cibar1	T	A	4: 12,171,216 (GRCm39)	D79V	probably damaging	Het
Col12a1	T	C	9: 79,553,075 (GRCm39)		probably null	Het
Cuzd1	T	C	7: 130,921,820 (GRCm39)	T61A	possibly damaging	Het
Dbp	C	A	7: 45,357,700 (GRCm39)	D89E	probably benign	Het
Dido1	A	T	2: 180,330,974 (GRCm39)	L158*	probably null	Het
Dnah9	T	G	11: 65,846,164 (GRCm39)	N2958T	probably benign	Het
Dpp8	T	A	9: 64,986,056 (GRCm39)	Y849N	probably damaging	Het
Dsg2	A	G	18: 20,716,061 (GRCm39)		probably benign	Het
Efemp1	A	T	11: 28,864,696 (GRCm39)	Y250F	possibly damaging	Het
Faxc	T	C	4: 21,958,439 (GRCm39)		probably benign	Het
Frem3	G	T	8: 81,421,966 (GRCm39)	C2122F	possibly damaging	Het
Gan	T	C	8: 117,914,238 (GRCm39)		probably null	Het
Gnl1	A	G	17: 36,293,850 (GRCm39)	N274D	probably benign	Het
Hook3	T	C	8: 26,528,126 (GRCm39)	E588G	probably damaging	Het
Itpr1	C	A	6: 108,363,814 (GRCm39)	S812Y	possibly damaging	Het
Kbtbd3	C	T	9: 4,317,075 (GRCm39)		probably benign	Het
Macf1	C	T	4: 123,265,711 (GRCm39)	A4821T	probably damaging	Het
Mepe	T	C	5: 104,474,957 (GRCm39)	S13P	possibly damaging	Het
Msantd5f6	A	G	4: 73,321,295 (GRCm39)	I154T	possibly damaging	Het
Myh11	A	G	16: 14,050,532 (GRCm39)	Y478H	probably damaging	Het
Myo7b	A	G	18: 32,118,013 (GRCm39)	V871A	probably benign	Het
Nckap1	A	T	2: 80,365,862 (GRCm39)	M466K	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or4k6	A	G	14: 50,475,406 (GRCm39)	I312T	probably benign	Het
Or52r1b	A	T	7: 102,690,731 (GRCm39)	H15L	probably benign	Het
Or5aq1b	T	A	2: 86,901,897 (GRCm39)	N194Y	possibly damaging	Het
Or5m13	A	C	2: 85,749,114 (GRCm39)	S282R	probably damaging	Het
Or9k2	A	G	10: 129,998,604 (GRCm39)	I197T	probably benign	Het
Or9s23	A	T	1: 92,501,489 (GRCm39)	T199S	probably damaging	Het
Otof	T	C	5: 30,578,358 (GRCm39)	T97A	probably benign	Het
Peli2	G	A	14: 48,493,602 (GRCm39)	E275K	probably benign	Het
Pik3c2a	T	C	7: 115,950,057 (GRCm39)	Y1320C	probably damaging	Het
Pkn1	A	G	8: 84,398,007 (GRCm39)	V795A	probably damaging	Het
Pramel5	A	G	4: 143,998,274 (GRCm39)	L323P	probably damaging	Het
Prr5	A	T	15: 84,585,580 (GRCm39)	R183W	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rabgef1	A	G	5: 130,237,620 (GRCm39)	D231G	possibly damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rc3h1	C	T	1: 160,782,507 (GRCm39)	P662L	probably benign	Het
Rpl7a-ps5	G	T	17: 58,146,090 (GRCm39)	Q47K	probably benign	Het
Sclt1	G	A	3: 41,685,323 (GRCm39)	T45I	probably benign	Het
Slc22a17	A	G	14: 55,145,543 (GRCm39)	I202T	probably damaging	Het
Slc25a13	A	G	6: 6,073,487 (GRCm39)	L457S	probably damaging	Het
Slc44a3	T	C	3: 121,257,059 (GRCm39)		probably benign	Het
Slc7a9	G	A	7: 35,153,562 (GRCm39)	V188M	probably damaging	Het
Spata31d1e	A	G	13: 59,890,401 (GRCm39)	M55T	possibly damaging	Het
Tmem161a	T	A	8: 70,630,170 (GRCm39)	F119I	probably damaging	Het
Tmem240	A	G	4: 155,819,892 (GRCm39)	D32G	possibly damaging	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Uqcrc1	G	A	9: 108,776,083 (GRCm39)	V262M	probably benign	Het
Vmn1r87	G	A	7: 12,865,823 (GRCm39)	R155C	probably damaging	Het
Vmn2r100	A	T	17: 19,742,334 (GRCm39)	Q236L	probably benign	Het
Vmn2r97	T	A	17: 19,149,944 (GRCm39)	I444N	unknown	Het
Yif1a	A	T	19: 5,139,900 (GRCm39)	H115L	probably damaging	Het
Zfp280b	T	C	10: 75,874,328 (GRCm39)	L69S	probably damaging	Het
Zfp579	C	A	7: 4,996,520 (GRCm39)	E464*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TCCTGTGCCCTTATGACCAG -3'
(R):5'- ATCCAGACCTAAGCATGAGC -3'

Sequencing Primer
(F):5'- TGCCCTTATGACCAGATTGAG -3'
(R):5'- CCGCAAATAATCTCTGAGC -3'

Posted On

2014-08-25