Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01722:Dph3'

105152

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dph3

Ensembl Gene

ENSMUSG00000021905

Gene Name

diphthamine biosynthesis 3

Synonyms

Zcsl2, DELGIP1, DESR1, KTI11, 2610018L09Rik, 5730511P15Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01722

Quality Score

Status

Chromosome

Chromosomal Location

31802523-31807686 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31807417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 20 (E20K)

Ref Sequence

ENSEMBL: ENSMUSP00000120583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022461] [ENSMUST00000022462] [ENSMUST00000067955] [ENSMUST00000112000] [ENSMUST00000112001] [ENSMUST00000124303] [ENSMUST00000171598] [ENSMUST00000166810] [ENSMUST00000227845] [ENSMUST00000164868] [ENSMUST00000170600] [ENSMUST00000168986] [ENSMUST00000165523] [ENSMUST00000169649]

AlphaFold

Q8K0W9

Predicted Effect

probably benign
Transcript: ENSMUST00000022461
AA Change: E20K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000022461
Gene: ENSMUSG00000021905
AA Change: E20K

Domain	Start	End	E-Value	Type
Pfam:zf-CSL	6	60	2.8e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000022462

SMART Domains

Protein: ENSMUSP00000022462
Gene: ENSMUSG00000021906

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_6	168	269	6.5e-9	PFAM
Pfam:NAD_binding_1	173	293	8.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000067955
AA Change: E20K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000068491
Gene: ENSMUSG00000021905
AA Change: E20K

Domain	Start	End	E-Value	Type
Pfam:zf-CSL	6	60	2.5e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000112000

SMART Domains

Protein: ENSMUSP00000107631
Gene: ENSMUSG00000021905

Domain	Start	End	E-Value	Type
Pfam:zf-CSL	6	60	5.6e-30	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112001
AA Change: E20K

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127944
Gene: ENSMUSG00000021905
AA Change: E20K

Domain	Start	End	E-Value	Type
Pfam:zf-CSL	6	54	1.4e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124303
AA Change: E20K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120583
Gene: ENSMUSG00000021905
AA Change: E20K

Domain	Start	End	E-Value	Type
Pfam:zf-CSL	6	57	2.5e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167796

Predicted Effect

probably benign
Transcript: ENSMUST00000171598

SMART Domains

Protein: ENSMUSP00000132162
Gene: ENSMUSG00000021906

Domain	Start	End	E-Value	Type
SCOP:d1ep3b1	65	115	4e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166810

Predicted Effect

probably benign
Transcript: ENSMUST00000227845

Predicted Effect

probably benign
Transcript: ENSMUST00000164868

SMART Domains

Protein: ENSMUSP00000125791
Gene: ENSMUSG00000021906

Domain	Start	End	E-Value	Type
SCOP:d1ep3b1	65	149	1e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170600

SMART Domains

Protein: ENSMUSP00000130998
Gene: ENSMUSG00000021906

Domain	Start	End	E-Value	Type
SCOP:d1ep3b1	65	143	3e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168986

SMART Domains

Protein: ENSMUSP00000126372
Gene: ENSMUSG00000021906

Domain	Start	End	E-Value	Type
SCOP:d1ep3b1	65	130	3e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165523

Predicted Effect

probably benign
Transcript: ENSMUST00000169649

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in elongation factor-2 to diphthamide. This modified residue is a target for ADP ribosylation by the bacterial toxins diphtheria toxin and Pseudomonas exotoxin A. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis, failure of chorioallantoic fusion, impaired placental development, and embryonic growth retardation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	T	A	2: 58,173,561 (GRCm39)		probably benign	Het
Alb	G	A	5: 90,618,698 (GRCm39)		probably null	Het
Ankrd9	A	G	12: 110,943,797 (GRCm39)	V46A	probably damaging	Het
Apol11a	A	T	15: 77,401,307 (GRCm39)	M265L	probably benign	Het
Ccdc158	T	C	5: 92,810,598 (GRCm39)	N97D	possibly damaging	Het
Cobl	T	G	11: 12,203,987 (GRCm39)	H823P	probably benign	Het
Dnaja2	A	T	8: 86,279,908 (GRCm39)	H90Q	probably benign	Het
Dpagt1	T	C	9: 44,238,899 (GRCm39)	F73S	possibly damaging	Het
Fbxl13	G	T	5: 21,695,412 (GRCm39)	T660K	possibly damaging	Het
Gask1a	G	A	9: 121,794,149 (GRCm39)	S101N	possibly damaging	Het
Glt6d1	T	C	2: 25,684,431 (GRCm39)	T192A	probably benign	Het
Mroh7	C	T	4: 106,560,358 (GRCm39)	V649I	probably benign	Het
Mta3	T	C	17: 84,063,072 (GRCm39)	Y4H	possibly damaging	Het
Myh14	A	G	7: 44,292,956 (GRCm39)	L369P	probably damaging	Het
Or2y1	G	T	11: 49,385,793 (GRCm39)	L144F	probably damaging	Het
Or4c52	T	C	2: 89,845,351 (GRCm39)	C26R	probably benign	Het
Paxx	T	C	2: 25,350,277 (GRCm39)	D110G	probably damaging	Het
Pcyox1	T	G	6: 86,365,735 (GRCm39)	D493A	probably damaging	Het
Plk2	A	G	13: 110,535,976 (GRCm39)	E560G	probably benign	Het
Rnf6	A	G	5: 146,147,036 (GRCm39)	F661L	probably benign	Het
Sema4a	T	C	3: 88,345,491 (GRCm39)	K531E	probably benign	Het
Svs5	T	C	2: 164,079,446 (GRCm39)	K154E	possibly damaging	Het
Tbx4	A	T	11: 85,802,769 (GRCm39)	Q242L	probably damaging	Het
Tgm3	A	T	2: 129,886,488 (GRCm39)	I570F	probably damaging	Het
Thrap3	A	T	4: 126,059,322 (GRCm39)	M908K	possibly damaging	Het
Trmo	A	G	4: 46,386,092 (GRCm39)		probably null	Het
Usp8	T	A	2: 126,600,072 (GRCm39)	L997Q	probably damaging	Het
Vmn1r202	T	C	13: 22,685,890 (GRCm39)	R176G	probably benign	Het
Vps52	T	A	17: 34,180,589 (GRCm39)	Y308*	probably null	Het

Other mutations in Dph3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R8123:Dph3	UTSW	14	31,805,157 (GRCm39)	missense	probably benign	0.18
R9059:Dph3	UTSW	14	31,807,384 (GRCm39)	missense	probably benign	0.00

Posted On

2014-01-21