Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01295:Dph1'

73094

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dph1

Ensembl Gene

ENSMUSG00000078789

Gene Name

diphthamide biosynthesis 1

Synonyms

Dph2l1, 4930488F09Rik, Ovca1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01295

Quality Score

Status

Chromosome

Chromosomal Location

75068469-75081309 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 75071775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044949] [ENSMUST00000071562] [ENSMUST00000139958]

AlphaFold

Q5NCQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000044949

SMART Domains

Protein: ENSMUSP00000042162
Gene: ENSMUSG00000078789

Domain	Start	End	E-Value	Type
Pfam:Diphthamide_syn	76	377	5.3e-123	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071562

SMART Domains

Protein: ENSMUSP00000071493
Gene: ENSMUSG00000038268

Domain	Start	End	E-Value	Type
Pfam:FSH1	1	216	1.2e-57	PFAM
Pfam:Abhydrolase_2	60	225	2.4e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123489

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134252

Predicted Effect

probably benign
Transcript: ENSMUST00000139958

SMART Domains

Protein: ENSMUSP00000116537
Gene: ENSMUSG00000078789

Domain	Start	End	E-Value	Type
Pfam:Diphthamide_syn	62	276	1.1e-79	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156489

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene die perinatally of respiratory distress or earlier. Numerous systems are affected. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,383,893 (GRCm39)	L691I	possibly damaging	Het
Ano7	A	G	1: 93,308,200 (GRCm39)	D77G	probably benign	Het
Apol10b	A	T	15: 77,469,796 (GRCm39)	V127E	probably damaging	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Atn1	T	C	6: 124,726,239 (GRCm39)	E80G	probably damaging	Het
Carmil2	T	C	8: 106,422,148 (GRCm39)	M1139T	probably benign	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Celf5	G	T	10: 81,302,914 (GRCm39)		probably benign	Het
Chd6	G	A	2: 160,830,290 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,551,208 (GRCm39)	V2136E	probably damaging	Het
Col4a1	G	T	8: 11,286,075 (GRCm39)		probably benign	Het
Dvl2	G	T	11: 69,900,410 (GRCm39)	V735F	possibly damaging	Het
Eif3b	A	G	5: 140,427,495 (GRCm39)	I709V	possibly damaging	Het
Elp5	C	T	11: 69,859,296 (GRCm39)		probably benign	Het
Exd1	A	T	2: 119,360,560 (GRCm39)		probably benign	Het
Fbxl4	C	A	4: 22,427,348 (GRCm39)	R530S	probably benign	Het
Fmo4	A	T	1: 162,626,693 (GRCm39)	D284E	probably damaging	Het
Fn3krp	A	G	11: 121,312,380 (GRCm39)	Y31C	probably damaging	Het
Galnt14	G	T	17: 73,811,914 (GRCm39)	Q436K	probably benign	Het
Gm5114	A	T	7: 39,057,241 (GRCm39)	W793R	probably damaging	Het
Gm9376	T	G	14: 118,505,059 (GRCm39)	S164A	possibly damaging	Het
Gtf2ird2	G	A	5: 134,221,603 (GRCm39)	D69N	probably damaging	Het
Hfm1	A	C	5: 107,065,472 (GRCm39)	M69R	possibly damaging	Het
Ighv9-1	A	C	12: 114,057,619 (GRCm39)	S94A	probably damaging	Het
Ikzf2	C	T	1: 69,617,146 (GRCm39)	R67H	probably benign	Het
Ipcef1	A	T	10: 6,850,642 (GRCm39)	F316L	probably damaging	Het
Kdsr	A	G	1: 106,683,187 (GRCm39)	V62A	possibly damaging	Het
Kif23	A	T	9: 61,839,411 (GRCm39)	C279S	possibly damaging	Het
Klf5	C	T	14: 99,539,157 (GRCm39)	T110I	probably benign	Het
Klhl25	T	A	7: 75,515,620 (GRCm39)	H175Q	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Nfatc4	T	C	14: 56,069,962 (GRCm39)	V710A	probably benign	Het
Optn	G	A	2: 5,037,967 (GRCm39)	T409I	possibly damaging	Het
Or10j3b	A	T	1: 173,043,440 (GRCm39)	Y74F	probably damaging	Het
Or52a5	C	T	7: 103,427,448 (GRCm39)	V35I	probably benign	Het
Pabpc2	T	A	18: 39,907,082 (GRCm39)	Y116N	probably damaging	Het
Pafah1b1	G	T	11: 74,574,473 (GRCm39)	R238S	probably damaging	Het
Pdzd9	C	T	7: 120,267,618 (GRCm39)	G66R	probably damaging	Het
Pih1d1	T	C	7: 44,809,388 (GRCm39)	L285P	probably damaging	Het
Pirb	G	A	7: 3,720,405 (GRCm39)	P323S	probably damaging	Het
Pkd1l1	A	G	11: 8,883,685 (GRCm39)	F396L	possibly damaging	Het
Pla2g4d	G	A	2: 120,112,207 (GRCm39)	T108M	probably damaging	Het
Plin3	T	C	17: 56,586,814 (GRCm39)	Y411C	probably damaging	Het
Ppfibp2	T	C	7: 107,346,746 (GRCm39)		probably benign	Het
Prrc2c	T	C	1: 162,510,061 (GRCm39)	S995G	probably damaging	Het
Ptf1a	T	C	2: 19,451,429 (GRCm39)	I253T	probably damaging	Het
Ptprb	A	G	10: 116,198,553 (GRCm39)	I1684V	probably benign	Het
Ptprk	G	A	10: 28,351,174 (GRCm39)	V556I	probably benign	Het
Rffl	A	T	11: 82,709,283 (GRCm39)	C47S	probably damaging	Het
Rnf17	C	T	14: 56,700,521 (GRCm39)	Q569*	probably null	Het
Shprh	A	G	10: 11,059,612 (GRCm39)	E1121G	probably damaging	Het
Slc1a5	A	G	7: 16,529,787 (GRCm39)	D402G	probably damaging	Het
Slc24a3	G	A	2: 145,458,634 (GRCm39)		probably null	Het
Slc2a13	T	A	15: 91,234,335 (GRCm39)		probably null	Het
Slc30a8	A	T	15: 52,169,955 (GRCm39)	N61Y	possibly damaging	Het
Slitrk6	A	T	14: 110,988,868 (GRCm39)	S280T	possibly damaging	Het
Smad2	G	A	18: 76,435,501 (GRCm39)	A365T	probably benign	Het
Tcp10b	C	T	17: 13,299,047 (GRCm39)	P367S	probably damaging	Het
Tdp1	A	G	12: 99,857,929 (GRCm39)	N163D	probably benign	Het
Thbs1	A	G	2: 117,948,808 (GRCm39)	D488G	possibly damaging	Het
Trappc12	C	T	12: 28,796,761 (GRCm39)	S257N	probably damaging	Het
Treml1	T	C	17: 48,672,627 (GRCm39)		probably benign	Het
Ugt2b36	A	G	5: 87,228,744 (GRCm39)	V234A	probably damaging	Het
Vmn2r86	T	G	10: 130,288,895 (GRCm39)	H202P	probably damaging	Het
Vmn2r87	C	A	10: 130,307,878 (GRCm39)	V787F	probably damaging	Het
Wbp2nl	T	A	15: 82,190,619 (GRCm39)	M129K	probably damaging	Het
Zdhhc15	T	C	X: 103,588,519 (GRCm39)		probably null	Het

Other mutations in Dph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Dph1	APN	11	75,071,486 (GRCm39)	missense	probably benign	0.00
IGL01872:Dph1	APN	11	75,072,167 (GRCm39)	missense	probably damaging	1.00
IGL02036:Dph1	APN	11	75,074,991 (GRCm39)	splice site	probably null
IGL02386:Dph1	APN	11	75,074,428 (GRCm39)	missense	probably benign	0.00
IGL02658:Dph1	APN	11	75,071,461 (GRCm39)	missense	probably benign	0.08
IGL02985:Dph1	APN	11	75,074,419 (GRCm39)	missense	possibly damaging	0.67
R0610:Dph1	UTSW	11	75,076,783 (GRCm39)	splice site	probably benign
R1847:Dph1	UTSW	11	75,070,557 (GRCm39)	missense	probably damaging	0.96
R1878:Dph1	UTSW	11	75,075,053 (GRCm39)	missense	probably damaging	1.00
R2037:Dph1	UTSW	11	75,076,679 (GRCm39)	splice site	probably null
R4569:Dph1	UTSW	11	75,069,721 (GRCm39)	unclassified	probably benign
R4666:Dph1	UTSW	11	75,072,156 (GRCm39)	missense	probably damaging	0.98
R6033:Dph1	UTSW	11	75,082,023 (GRCm39)	start gained	probably benign
R6033:Dph1	UTSW	11	75,082,023 (GRCm39)	start gained	probably benign
R6451:Dph1	UTSW	11	75,072,143 (GRCm39)	missense	probably damaging	0.99
R7149:Dph1	UTSW	11	75,070,001 (GRCm39)	missense	probably benign	0.00
R7698:Dph1	UTSW	11	75,081,267 (GRCm39)	missense	probably benign	0.01
R7776:Dph1	UTSW	11	75,081,272 (GRCm39)	missense	probably benign
R9299:Dph1	UTSW	11	75,070,622 (GRCm39)	missense	possibly damaging	0.69
R9563:Dph1	UTSW	11	75,076,825 (GRCm39)	missense	possibly damaging	0.83

Posted On

2013-10-07