Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00828:Dph7'

14858

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dph7

Ensembl Gene

ENSMUSG00000026975

Gene Name

diphthamine biosynethesis 7

Synonyms

2810443J12Rik, Wdr85

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL00828

Quality Score

Status

Chromosome

Chromosomal Location

24852412-24862175 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24861655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 356 (Q356L)

Ref Sequence

ENSEMBL: ENSMUSP00000028351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028351] [ENSMUST00000045295] [ENSMUST00000045604] [ENSMUST00000124383] [ENSMUST00000126909] [ENSMUST00000135339] [ENSMUST00000137913] [ENSMUST00000194392] [ENSMUST00000152777] [ENSMUST00000153618]

AlphaFold

Q9CYU6

Predicted Effect

probably benign
Transcript: ENSMUST00000028351
AA Change: Q356L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000028351
Gene: ENSMUSG00000026975
AA Change: Q356L

Domain	Start	End	E-Value	Type
Blast:WD40	74	118	3e-10	BLAST
Blast:WD40	128	175	3e-15	BLAST
WD40	183	223	7.43e-1	SMART
WD40	227	267	1.08e-4	SMART
WD40	271	310	1.37e2	SMART
WD40	420	455	1.97e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000045295

SMART Domains

Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833

Domain	Start	End	E-Value	Type
transmembrane domain	36	58	N/A	INTRINSIC
low complexity region	59	66	N/A	INTRINSIC
cNMP	170	295	2.06e-12	SMART
low complexity region	439	444	N/A	INTRINSIC
cNMP	481	600	1.16e-6	SMART
cNMP	603	716	1.55e-7	SMART
Pfam:Patatin	950	1116	3.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045604

SMART Domains

Protein: ENSMUSP00000043561
Gene: ENSMUSG00000036850

Domain	Start	End	E-Value	Type
Pfam:MRP-L27	13	125	1.3e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124383

Predicted Effect

probably benign
Transcript: ENSMUST00000126909

Predicted Effect

probably benign
Transcript: ENSMUST00000135339

SMART Domains

Protein: ENSMUSP00000142067
Gene: ENSMUSG00000026975

Domain	Start	End	E-Value	Type
low complexity region	54	67	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137913

SMART Domains

Protein: ENSMUSP00000141577
Gene: ENSMUSG00000036833

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
low complexity region	33	40	N/A	INTRINSIC
Pfam:cNMP_binding	162	200	2.7e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139031

Predicted Effect

probably benign
Transcript: ENSMUST00000194392

SMART Domains

Protein: ENSMUSP00000141974
Gene: ENSMUSG00000036850

Domain	Start	End	E-Value	Type
Pfam:MRP-L27	56	98	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152777

SMART Domains

Protein: ENSMUSP00000122394
Gene: ENSMUSG00000036833

Domain	Start	End	E-Value	Type
cNMP	89	179	4.98e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153618

SMART Domains

Protein: ENSMUSP00000117428
Gene: ENSMUSG00000036833

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
low complexity region	57	64	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A similar protein in yeast functions as a methylesterase, converting methylated diphthine to diphthine, which can then undergo amidation to produce diphthamide. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,527,200 (GRCm39)	I372F	possibly damaging	Het
Dcaf6	G	A	1: 165,165,916 (GRCm39)		probably benign	Het
Gpr107	A	T	2: 31,067,795 (GRCm39)		probably null	Het
Kmt2a	T	C	9: 44,732,073 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,481,845 (GRCm39)	Y816N	probably damaging	Het
Slc17a5	G	A	9: 78,485,833 (GRCm39)	A84V	probably benign	Het
Trim6	A	G	7: 103,879,950 (GRCm39)	T230A	probably benign	Het
Usp40	G	A	1: 87,906,028 (GRCm39)		probably benign	Het
Zfp980	A	T	4: 145,428,561 (GRCm39)	H430L	probably benign	Het
Zmpste24	G	A	4: 120,931,717 (GRCm39)	R303C	possibly damaging	Het

Other mutations in Dph7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Dph7	APN	2	24,861,935 (GRCm39)	splice site	probably null
IGL01322:Dph7	APN	2	24,855,629 (GRCm39)	missense	possibly damaging	0.85
IGL02393:Dph7	APN	2	24,856,609 (GRCm39)	missense	possibly damaging	0.89
IGL03286:Dph7	APN	2	24,856,628 (GRCm39)	missense	probably damaging	1.00
R0614:Dph7	UTSW	2	24,858,968 (GRCm39)	critical splice donor site	probably null
R1169:Dph7	UTSW	2	24,856,583 (GRCm39)	missense	probably benign	0.06
R1696:Dph7	UTSW	2	24,859,692 (GRCm39)	critical splice donor site	probably null
R2000:Dph7	UTSW	2	24,861,653 (GRCm39)	missense	probably benign	0.03
R4274:Dph7	UTSW	2	24,853,512 (GRCm39)	missense	possibly damaging	0.66
R4738:Dph7	UTSW	2	24,853,143 (GRCm39)	missense	possibly damaging	0.91
R4740:Dph7	UTSW	2	24,853,143 (GRCm39)	missense	possibly damaging	0.91
R5475:Dph7	UTSW	2	24,858,969 (GRCm39)	splice site	probably null
R6019:Dph7	UTSW	2	24,853,552 (GRCm39)	nonsense	probably null
R6645:Dph7	UTSW	2	24,855,663 (GRCm39)	missense	probably benign	0.02
R7443:Dph7	UTSW	2	24,852,505 (GRCm39)	missense	probably benign
R7570:Dph7	UTSW	2	24,855,642 (GRCm39)	missense	probably damaging	1.00
R7920:Dph7	UTSW	2	24,861,624 (GRCm39)	missense	probably benign
R8135:Dph7	UTSW	2	24,859,556 (GRCm39)	missense	probably benign	0.02
R9134:Dph7	UTSW	2	24,861,720 (GRCm39)	missense	probably benign	0.02
R9448:Dph7	UTSW	2	24,861,952 (GRCm39)	missense	probably damaging	1.00
R9672:Dph7	UTSW	2	24,855,606 (GRCm39)	missense	probably benign	0.29

Posted On

2012-12-06