Mutagenetix > Incidental Mutations

Incidental Mutation 'R0463:Dph5'

41462

Institutional Source

Beutler Lab

Gene Symbol

Dph5

Ensembl Gene

ENSMUSG00000033554

Gene Name

diphthamide biosynthesis 5

Synonyms

2410012M04Rik

MMRRC Submission

038663-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.801) question?

Stock #

R0463 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115887837-115934361 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115928703 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 277 (S277G)

Ref Sequence

ENSEMBL: ENSMUSP00000140958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043342] [ENSMUST00000185098] [ENSMUST00000189799]

Predicted Effect

probably benign
Transcript: ENSMUST00000043342
AA Change: S277G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000043730
Gene: ENSMUSG00000033554
AA Change: S277G

Domain	Start	End	E-Value	Type
Pfam:TP_methylase	1	241	1.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185098

SMART Domains

Protein: ENSMUSP00000139249
Gene: ENSMUSG00000033554

Domain	Start	End	E-Value	Type
Pfam:TP_methylase	1	177	4.7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189799
AA Change: S277G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000140958
Gene: ENSMUSG00000033554
AA Change: S277G

Domain	Start	End	E-Value	Type
Pfam:TP_methylase	1	241	7.7e-22	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,737,060		probably benign	Het
Abcd2	C	T	15: 91,159,124	M620I	probably benign	Het
Ada	T	A	2: 163,730,351	I243F	probably benign	Het
Adam12	T	C	7: 133,974,416		probably null	Het
Adarb2	A	T	13: 8,203,188		probably benign	Het
Adk	A	C	14: 21,423,536	Q287P	probably benign	Het
Ahnak	A	G	19: 9,009,407		probably benign	Het
Aoc3	C	T	11: 101,331,606	R223W	probably damaging	Het
Aqp11	T	C	7: 97,729,021	D229G	probably benign	Het
Arhgap28	A	G	17: 67,896,225	S78P	probably damaging	Het
Bfsp2	T	A	9: 103,426,655	E383D	possibly damaging	Het
Bmpr1b	A	T	3: 141,857,430	V251D	possibly damaging	Het
Calhm1	C	T	19: 47,143,841	V112I	probably benign	Het
Catsperd	A	G	17: 56,659,554	D508G	probably damaging	Het
Cfap54	A	G	10: 92,874,943		probably null	Het
Cfap70	A	T	14: 20,448,563	Y19N	probably damaging	Het
Chga	A	T	12: 102,562,951	R396*	probably null	Het
Cntnap3	T	C	13: 64,778,876	E560G	probably damaging	Het
Csmd1	T	C	8: 15,921,759	T3024A	probably damaging	Het
Csrnp1	CCCTCCTCCTCCTCCTCCTC	CCCTCCTCCTCCTCCTC	9: 119,972,775		probably benign	Het
Cysltr1	A	G	X: 106,578,655	V75A	possibly damaging	Het
Dnah2	A	T	11: 69,423,126	M4140K	probably damaging	Het
Eftud2	A	T	11: 102,864,771	D203E	probably damaging	Het
Egf	A	G	3: 129,706,233	Y252H	probably benign	Het
Egf	A	G	3: 129,737,549	S126P	probably damaging	Het
Faf1	C	T	4: 109,890,941	A481V	probably benign	Het
Fat2	A	T	11: 55,262,829	V3519D	probably damaging	Het
Fbln7	C	A	2: 128,877,511	A76E	probably benign	Het
Galnt1	A	T	18: 24,254,525	K49N	probably benign	Het
Glb1	ACCC	ACC	9: 114,421,744		probably null	Het
Grk1	T	C	8: 13,409,279	Y277H	probably damaging	Het
Hap1	A	G	11: 100,349,305	L555P	probably damaging	Het
Ier3	T	C	17: 35,822,108	I94T	possibly damaging	Het
Il11	T	C	7: 4,776,024	T36A	probably damaging	Het
Il5ra	A	T	6: 106,731,890	D296E	probably damaging	Het
Itk	A	T	11: 46,331,989	V551E	probably damaging	Het
Kcna2	T	A	3: 107,105,160	D352E	probably benign	Het
Kif5a	A	T	10: 127,235,652	S776T	probably benign	Het
Klrb1c	T	C	6: 128,780,403	E233G	probably benign	Het
Kpna7	T	C	5: 145,007,994	K12R	possibly damaging	Het
Lhpp	C	T	7: 132,610,677		probably benign	Het
Lhx8	A	T	3: 154,328,171		probably null	Het
Lrrc6	T	A	15: 66,380,474	M448L	probably benign	Het
Magel2	T	A	7: 62,378,030	H227Q	possibly damaging	Het
Man1a	A	G	10: 54,074,498	V176A	probably damaging	Het
Mapkbp1	T	A	2: 120,023,151	M1152K	probably benign	Het
Mcoln3	T	A	3: 146,140,576	L547*	probably null	Het
Myof	T	C	19: 37,916,504	D1624G	probably damaging	Het
Myom2	T	C	8: 15,104,123	V687A	probably benign	Het
Nav1	C	A	1: 135,452,207	V1586F	possibly damaging	Het
Ndufb8	T	C	19: 44,550,345	E179G	possibly damaging	Het
Nfam1	T	C	15: 83,001,483	T223A	probably damaging	Het
Nrcam	T	A	12: 44,551,341	V371E	probably damaging	Het
Nup210l	A	G	3: 90,180,211	Q1097R	probably null	Het
Obox5	T	A	7: 15,757,646	M37K	probably damaging	Het
Obscn	A	T	11: 59,061,530	N4270K	probably benign	Het
Olfr1008	T	C	2: 85,689,839	S137P	possibly damaging	Het
Olfr463	G	A	11: 87,893,196	H243Y	probably damaging	Het
Olfr802	A	G	10: 129,681,839	M300T	probably benign	Het
Olfr893	G	A	9: 38,209,064	A2T	probably benign	Het
Olfr995	T	A	2: 85,438,286	S291C	probably damaging	Het
Patj	G	A	4: 98,674,308	E1505K	probably damaging	Het
Pnliprp1	T	A	19: 58,738,196	Y328*	probably null	Het
Ppp1r36	G	A	12: 76,418,967	E43K	probably damaging	Het
Ptch1	C	T	13: 63,520,307	V939I	probably damaging	Het
Rgs22	C	A	15: 36,092,938	K396N	probably damaging	Het
Rsrc1	A	T	3: 67,180,861	H176L	probably damaging	Het
Ryr3	A	T	2: 112,661,701	F3743L	probably damaging	Het
Scn7a	C	T	2: 66,675,740	G1602R	probably benign	Het
Sftpc	A	T	14: 70,522,670	V49E	probably damaging	Het
Slc16a10	A	G	10: 40,040,616	V430A	probably benign	Het
Slco4c1	A	C	1: 96,867,920	S138A	possibly damaging	Het
Snd1	T	C	6: 28,724,956	I501T	probably benign	Het
Stxbp2	T	A	8: 3,632,559	D49E	probably damaging	Het
Sytl4	A	T	X: 133,962,187	D16E	probably benign	Het
Tbc1d9b	G	A	11: 50,145,067	G130E	probably benign	Het
Tdrd6	T	A	17: 43,625,561	D1532V	probably damaging	Het
Tekt1	T	C	11: 72,351,952	D243G	probably damaging	Het
Tet2	A	G	3: 133,486,666	L669S	possibly damaging	Het
Tnnt3	A	G	7: 142,512,335	N201S	probably benign	Het
Trdn	A	G	10: 33,466,421		probably null	Het
Trim36	T	C	18: 46,178,456	E259G	possibly damaging	Het
Trpm1	C	T	7: 64,220,254	P436S	probably benign	Het
Vmn1r183	T	A	7: 24,055,501	L243Q	probably damaging	Het
Vps13b	T	C	15: 35,597,409	S1032P	probably damaging	Het
Vps37d	T	C	5: 135,076,541	E76G	probably damaging	Het
Vps72	A	G	3: 95,121,304	H202R	probably benign	Het
Wdr75	T	C	1: 45,819,602	S644P	probably damaging	Het
Wrn	T	A	8: 33,280,815	E697V	possibly damaging	Het
Xirp2	A	G	2: 67,514,918	D2501G	probably benign	Het
Zfp472	T	C	17: 32,975,962	W24R	probably damaging	Het
Zmym6	T	C	4: 127,122,772	V782A	probably damaging	Het

Other mutations in Dph5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Dph5	APN	3	115899713	missense	probably damaging	1.00
IGL02441:Dph5	APN	3	115926741	missense	possibly damaging	0.88
IGL02852:Dph5	APN	3	115928671	missense	possibly damaging	0.95
R0200:Dph5	UTSW	3	115928703	missense	probably benign	0.03
R0466:Dph5	UTSW	3	115928710	missense	probably benign	0.02
R0707:Dph5	UTSW	3	115915133	missense	probably benign	0.00
R4542:Dph5	UTSW	3	115928625	missense	probably damaging	1.00
R4601:Dph5	UTSW	3	115899777	missense	possibly damaging	0.93
R4932:Dph5	UTSW	3	115899807	missense	probably benign
R4950:Dph5	UTSW	3	115928643	missense	probably benign	0.33
R6504:Dph5	UTSW	3	115926803	splice site	probably null
R6662:Dph5	UTSW	3	115928556	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTTGCTGAGTTGACGTGCTGC -3'
(R):5'- CCAAACGCTGTCGTTCAACCTG -3'

Sequencing Primer
(F):5'- TCACTGAGGAGACACTCTGTG -3'
(R):5'- AACCTGCTTCTTCTTGGTCAC -3'

Posted On

2013-05-23