Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02658:Dph1'

302428

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dph1

Ensembl Gene

ENSMUSG00000078789

Gene Name

diphthamide biosynthesis 1

Synonyms

4930488F09Rik, Ovca1, Dph2l1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02658

Quality Score

Status

Chromosome

Chromosomal Location

75177643-75191241 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 75180635 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 311 (L311F)

Ref Sequence

ENSEMBL: ENSMUSP00000042162 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000044949
AA Change: L311F

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000042162
Gene: ENSMUSG00000078789
AA Change: L311F

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,952,560	Y946F	probably benign	Het
Abcb4	T	G	5: 8,934,240	W657G	probably benign	Het
Adcy1	T	C	11: 7,138,279		probably benign	Het
Arap3	A	G	18: 37,990,994	V351A	probably benign	Het
Bpifb9b	A	C	2: 154,311,281	Y89S	probably benign	Het
Carns1	C	T	19: 4,173,084	C47Y	probably benign	Het
Chd5	C	T	4: 152,360,593	H344Y	probably damaging	Het
Ctnna2	T	C	6: 76,980,824	T481A	probably benign	Het
Cyth1	T	A	11: 118,182,246	D264V	probably damaging	Het
Eif3l	A	G	15: 79,076,942	D65G	probably damaging	Het
Gtf2a1l	T	A	17: 88,668,718	F3Y	probably benign	Het
Hcn4	A	T	9: 58,859,465	T770S	unknown	Het
Hydin	A	T	8: 110,413,276	I726F	possibly damaging	Het
Klf2	A	G	8: 72,319,096	I7V	probably benign	Het
Ltn1	A	T	16: 87,415,774	L633H	probably damaging	Het
Ncoa3	A	G	2: 166,051,393	D206G	probably benign	Het
Nlrp4a	T	G	7: 26,449,713	D248E	probably benign	Het
Nyap1	A	G	5: 137,735,484	I429T	probably damaging	Het
Olfr1370	G	A	13: 21,072,812	T163I	probably damaging	Het
Olfr285	A	G	15: 98,313,356	S65P	probably damaging	Het
Olfr338	T	A	2: 36,377,060	C95S	probably damaging	Het
Olfr578	A	G	7: 102,984,330	M278T	probably benign	Het
Olfr720	T	A	14: 14,175,732	M117L	possibly damaging	Het
Pcf11	T	C	7: 92,647,046	E1322G	probably damaging	Het
Plcxd2	A	T	16: 45,972,326	F217I	probably benign	Het
Plxna4	A	T	6: 32,185,411	I1389N	probably damaging	Het
Ppp1r15a	T	C	7: 45,524,667	Y239C	probably benign	Het
Psma6	A	G	12: 55,412,211	E126G	probably benign	Het
R3hcc1l	T	A	19: 42,562,702	V46E	probably damaging	Het
Rap1gds1	G	T	3: 138,957,479	H320N	probably damaging	Het
Sdhaf3	A	G	6: 7,038,992	M105V	probably damaging	Het
Slc22a26	T	A	19: 7,788,248	N345I	probably benign	Het
Sncaip	T	C	18: 52,894,955	I412T	possibly damaging	Het
Sorcs1	A	T	19: 50,190,092	I864N	probably damaging	Het
Spag5	C	T	11: 78,321,331	Q1062*	probably null	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Szrd1	A	G	4: 141,139,746		probably benign	Het
Tns2	C	A	15: 102,107,796		probably benign	Het
Trcg1	C	A	9: 57,242,228	S361*	probably null	Het
Tshz3	T	C	7: 36,769,158	F191L	probably damaging	Het
Ttc39a	T	C	4: 109,422,893	V124A	probably damaging	Het
Ttf1	T	C	2: 29,074,011	I633T	probably damaging	Het
Zfp691	A	G	4: 119,170,507	F176S	probably damaging	Het

Other mutations in Dph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Dph1	APN	11	75180949	splice site	probably benign
IGL01317:Dph1	APN	11	75180660	missense	probably benign	0.00
IGL01872:Dph1	APN	11	75181341	missense	probably damaging	1.00
IGL02036:Dph1	APN	11	75184165	splice site	probably null
IGL02386:Dph1	APN	11	75183602	missense	probably benign	0.00
IGL02985:Dph1	APN	11	75183593	missense	possibly damaging	0.67
R0610:Dph1	UTSW	11	75185957	splice site	probably benign
R1847:Dph1	UTSW	11	75179731	missense	probably damaging	0.96
R1878:Dph1	UTSW	11	75184227	missense	probably damaging	1.00
R2037:Dph1	UTSW	11	75185853	splice site	probably null
R4569:Dph1	UTSW	11	75178895	unclassified	probably benign
R4666:Dph1	UTSW	11	75181330	missense	probably damaging	0.98
R6033:Dph1	UTSW	11	75191197	start gained	probably benign
R6033:Dph1	UTSW	11	75191197	start gained	probably benign
R6451:Dph1	UTSW	11	75181317	missense	probably damaging	0.99
R7149:Dph1	UTSW	11	75179175	missense	probably benign	0.00
R7698:Dph1	UTSW	11	75190441	missense	probably benign	0.01
R7776:Dph1	UTSW	11	75190446	missense	probably benign

Posted On

2015-04-16