Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03286:Dph7'

415729

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: 0.084) question?

Stock #

IGL03286

Quality Score

Status

Chromosome

Chromosomal Location

24852412-24862175 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24856628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 193 (H193Q)

Ref Sequence

ENSEMBL: ENSMUSP00000028351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028350] [ENSMUST00000028351] [ENSMUST00000124383] [ENSMUST00000126909] [ENSMUST00000135339] [ENSMUST00000143253] [ENSMUST00000153375]

AlphaFold

Q9CYU6

Predicted Effect

probably benign
Transcript: ENSMUST00000028350

SMART Domains

Protein: ENSMUSP00000028350
Gene: ENSMUSG00000026974

Domain	Start	End	E-Value	Type
Pfam:HNH_3	66	105	1.9e-10	PFAM
Pfam:zf-MYND	167	212	1.2e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000028351
AA Change: H193Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028351
Gene: ENSMUSG00000026975
AA Change: H193Q

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: 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: ENSMUST00000143253

SMART Domains

Protein: ENSMUSP00000142315
Gene: ENSMUSG00000026975

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146382

Predicted Effect

probably benign
Transcript: ENSMUST00000153375

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,088,543 (GRCm39)	G110S	probably benign	Het
Arhgap32	T	C	9: 32,170,816 (GRCm39)	S1548P	probably benign	Het
Cacna1s	A	G	1: 136,005,397 (GRCm39)	D147G	probably benign	Het
Calcoco2	A	G	11: 95,994,098 (GRCm39)	V116A	possibly damaging	Het
Chd5	A	T	4: 152,469,952 (GRCm39)	M1842L	probably benign	Het
Comt	T	C	16: 18,230,490 (GRCm39)	D73G	probably damaging	Het
Ctnna1	A	G	18: 35,308,206 (GRCm39)	I175M	probably benign	Het
Dnah6	A	T	6: 73,060,068 (GRCm39)	Y2839N	probably damaging	Het
Eif2b5	A	G	16: 20,321,012 (GRCm39)	D258G	probably damaging	Het
Eml5	T	C	12: 98,826,762 (GRCm39)	D630G	probably damaging	Het
Ext2	C	T	2: 93,537,617 (GRCm39)	V590M	probably damaging	Het
Fchsd2	T	C	7: 100,908,982 (GRCm39)		probably null	Het
Gm13272	A	G	4: 88,698,586 (GRCm39)	Q167R	probably benign	Het
Gm21834	A	G	17: 58,048,922 (GRCm39)	V98A	possibly damaging	Het
Grid1	T	A	14: 35,242,642 (GRCm39)		probably benign	Het
H2-DMa	T	A	17: 34,356,083 (GRCm39)		probably null	Het
Ighv5-17	T	G	12: 113,822,797 (GRCm39)	E108A	possibly damaging	Het
Invs	A	G	4: 48,382,261 (GRCm39)	T144A	probably benign	Het
Ipo9	A	G	1: 135,334,816 (GRCm39)		probably benign	Het
Itga4	A	T	2: 79,119,706 (GRCm39)	Y504F	probably damaging	Het
Krt5	A	G	15: 101,615,983 (GRCm39)	F544S	unknown	Het
Larp4	A	G	15: 99,883,967 (GRCm39)	Y67C	probably damaging	Het
Msh2	T	C	17: 87,990,095 (GRCm39)	M261T	possibly damaging	Het
Nav1	A	T	1: 135,382,274 (GRCm39)	C1367S	probably benign	Het
Nox4	T	A	7: 87,019,349 (GRCm39)		probably benign	Het
Noxa1	A	G	2: 24,975,732 (GRCm39)		probably null	Het
Or5b98	A	C	19: 12,931,532 (GRCm39)	Y193S	probably benign	Het
Or6p1	A	C	1: 174,258,743 (GRCm39)	I250L	probably benign	Het
Pde4d	T	A	13: 110,091,040 (GRCm39)		probably benign	Het
Pdlim2	C	T	14: 70,411,925 (GRCm39)	G36S	possibly damaging	Het
Plekhm2	A	G	4: 141,361,658 (GRCm39)	S262P	possibly damaging	Het
Pnpla6	C	A	8: 3,581,473 (GRCm39)	T582K	probably damaging	Het
Rap1b	A	T	10: 117,654,480 (GRCm39)	L120*	probably null	Het
Rft1	C	T	14: 30,383,323 (GRCm39)	T121I	probably benign	Het
Scn1a	A	G	2: 66,107,920 (GRCm39)	I1613T	probably damaging	Het
Slc47a2	T	G	11: 61,233,293 (GRCm39)	E79A	possibly damaging	Het
Slc9a4	A	G	1: 40,619,928 (GRCm39)	I85V	probably null	Het
Slfn8	A	T	11: 82,904,294 (GRCm39)	F365L	probably damaging	Het
Smcr8	T	A	11: 60,668,853 (GRCm39)		probably benign	Het
Sntb1	T	C	15: 55,655,442 (GRCm39)	D258G	possibly damaging	Het
Sorbs1	A	G	19: 40,332,858 (GRCm39)	I520T	probably damaging	Het
Sptbn2	T	C	19: 4,797,860 (GRCm39)	S1896P	probably damaging	Het
Sptlc3	G	A	2: 139,431,579 (GRCm39)	G367D	probably damaging	Het
Stab1	C	T	14: 30,881,283 (GRCm39)		probably benign	Het
Tars2	T	C	3: 95,662,067 (GRCm39)		probably benign	Het
Tchhl1	C	T	3: 93,378,430 (GRCm39)	A378V	probably benign	Het
Tet3	A	T	6: 83,352,760 (GRCm39)	F1012Y	probably damaging	Het
Tuba8	A	G	6: 121,199,913 (GRCm39)	D199G	possibly damaging	Het
Vmn2r110	T	A	17: 20,804,468 (GRCm39)	T151S	possibly damaging	Het
Xirp2	T	C	2: 67,346,654 (GRCm39)	I2965T	probably damaging	Het
Zfp688	T	A	7: 127,018,703 (GRCm39)	M141L	probably benign	Het

Other mutations in Dph7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00828:Dph7	APN	2	24,861,655 (GRCm39)	missense	probably benign	0.00
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
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

2016-08-02