Mutagenetix > Incidental Mutation

Incidental Mutation 'R9134:Dph7'

693819

Institutional Source

Beutler Lab

Gene Symbol

Dph7

Ensembl Gene

ENSMUSG00000026975

Gene Name

diphthamine biosynethesis 7

Synonyms

2810443J12Rik, Wdr85

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R9134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24852412-24862175 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24861720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 378 (H378Y)

Ref Sequence

ENSEMBL: ENSMUSP00000028351 (fasta)

Gene Model

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

AlphaFold

Q9CYU6

Predicted Effect

probably benign
Transcript: ENSMUST00000028351
AA Change: H378Y

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000028351
Gene: ENSMUSG00000026975
AA Change: H378Y

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

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (54/57)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1m1	A	G	8: 72,993,913 (GRCm39)		probably benign	Het
Arhgdia	A	T	11: 120,470,392 (GRCm39)	I122N	probably damaging	Het
Atad2b	T	A	12: 5,060,351 (GRCm39)	H915Q	probably benign	Het
Atad5	G	A	11: 80,023,931 (GRCm39)	R1681K	probably benign	Het
Bpifb9b	T	C	2: 154,151,441 (GRCm39)	V54A	probably benign	Het
Cby3	A	C	11: 50,250,153 (GRCm39)	T25P	probably damaging	Het
Ccdc138	T	G	10: 58,374,102 (GRCm39)	L374R	probably damaging	Het
Cd84	T	A	1: 171,679,413 (GRCm39)	N30K	probably damaging	Het
Cdk20	T	A	13: 64,580,906 (GRCm39)		probably null	Het
Chd9	A	G	8: 91,659,754 (GRCm39)	H238R	unknown	Het
Cplane1	T	C	15: 8,228,716 (GRCm39)	V929A	probably damaging	Het
Csl	T	A	10: 99,594,237 (GRCm39)	H276L	probably damaging	Het
Dchs1	A	G	7: 105,404,910 (GRCm39)	L2544P	probably damaging	Het
Dnah17	T	C	11: 117,978,972 (GRCm39)	T1807A	probably damaging	Het
Enkur	T	C	2: 21,185,779 (GRCm39)	I249V	probably benign	Het
Fam117a	C	A	11: 95,271,745 (GRCm39)	S439*	probably null	Het
Fam184a	T	G	10: 53,573,344 (GRCm39)	K345N	probably damaging	Het
Fam228a	T	C	12: 4,765,686 (GRCm39)	R255G	probably benign	Het
Fpr-rs7	A	T	17: 20,334,325 (GRCm39)	M55K	probably damaging	Het
Frem2	A	G	3: 53,562,321 (GRCm39)	Y729H	probably damaging	Het
Herc2	A	G	7: 55,832,177 (GRCm39)	T2989A	probably damaging	Het
Hspb8	A	G	5: 116,547,547 (GRCm39)	L145P	probably damaging	Het
Iars1	T	A	13: 49,855,323 (GRCm39)	V250E	probably benign	Het
Ide	G	T	19: 37,273,561 (GRCm39)		probably benign	Het
Ino80c	T	C	18: 24,254,765 (GRCm39)	S32G	probably benign	Het
Insr	G	A	8: 3,308,413 (GRCm39)	R208W	probably damaging	Het
Ints1	G	A	5: 139,743,351 (GRCm39)	R1674W	probably benign	Het
Itsn1	G	A	16: 91,666,514 (GRCm39)	V1153M	unknown	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrrc41	C	A	4: 115,945,782 (GRCm39)	Q166K	possibly damaging	Het
Lrriq3	T	C	3: 154,820,183 (GRCm39)		probably null	Het
Mndal	T	C	1: 173,699,096 (GRCm39)	I190V	unknown	Het
Nisch	TCTGCTGC	TCTGCTGCTGC	14: 30,896,637 (GRCm39)		probably benign	Het
Nme4	G	T	17: 26,314,389 (GRCm39)	A13E	probably benign	Het
Or14c39	C	A	7: 86,344,588 (GRCm39)	S308*	probably null	Het
Or3a1	A	G	11: 74,225,670 (GRCm39)	I129T	probably damaging	Het
Or5b114-ps1	G	T	19: 13,352,613 (GRCm39)	A96S	probably damaging	Het
Pcmt1	A	T	10: 7,520,207 (GRCm39)		probably benign	Het
Pde4c	G	T	8: 71,201,160 (GRCm39)	V493F	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pira13	T	C	7: 3,825,182 (GRCm39)	S487G		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prr23a1	T	C	9: 98,724,935 (GRCm39)	L99P		Het
Rex2	C	G	4: 147,142,643 (GRCm39)	T377S	probably benign	Het
Robo2	A	G	16: 73,703,738 (GRCm39)	F50L		Het
Srgap1	A	G	10: 121,883,127 (GRCm39)		probably benign	Het
Syt3	A	G	7: 44,042,791 (GRCm39)	N358D	possibly damaging	Het
Tfec	T	A	6: 16,835,326 (GRCm39)	T151S	probably damaging	Het
Tll1	A	T	8: 64,469,201 (GRCm39)	I974N	possibly damaging	Het
Tmc2	T	C	2: 130,074,321 (GRCm39)	V338A	probably benign	Het
Trappc6b	T	A	12: 59,097,160 (GRCm39)	D54V	probably damaging	Het
Trav6-2	T	A	14: 52,905,109 (GRCm39)	C43*	probably null	Het
Ubr4	T	A	4: 139,127,755 (GRCm39)		probably null	Het
Vmn1r2	T	A	4: 3,172,884 (GRCm39)	W268R	probably damaging	Het
Vmn2r120	A	G	17: 57,832,093 (GRCm39)	L232S	probably damaging	Het
Vps26b	T	C	9: 26,921,225 (GRCm39)	T325A	probably benign	Het
Vwa3a	T	C	7: 120,377,659 (GRCm39)	V438A	probably damaging	Het
Wdcp	C	A	12: 4,901,533 (GRCm39)	S463*	probably null	Het
Xkr4	C	T	1: 3,740,860 (GRCm39)	G238S	probably benign	Het
Zranb1	A	G	7: 132,551,886 (GRCm39)	N179S	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTCTTACTACAGAGGAGAAGCAGG -3'
(R):5'- TGCGAGCTTGATTCGTCTCC -3'

Sequencing Primer
(F):5'- GGACATAACTGTTTTAACATCCCACG -3'
(R):5'- CCAGGAGGCTATTGTCAAAGCTC -3'

Posted On

2022-01-20