Mutagenetix > Incidental Mutation

Incidental Mutation 'R7570:Dph7'

585682

Institutional Source

Beutler Lab

Gene Symbol

Dph7

Ensembl Gene

ENSMUSG00000026975

Gene Name

diphthamine biosynethesis 7

Synonyms

2810443J12Rik, Wdr85

MMRRC Submission

045631-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R7570 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24962400-24972163 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24965630 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 147 (D147G)

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: D147G

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

SMART Domains

Protein: ENSMUSP00000028351
Gene: ENSMUSG00000026975
AA Change: D147G

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

probably benign
Transcript: ENSMUST00000153375

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (104/106)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,934,610	T613I	probably benign	Het
9130019O22Rik	T	A	7: 127,385,283	S216C	probably benign	Het
Ajuba	T	C	14: 54,576,402	E288G	probably damaging	Het
Ankrd12	C	T	17: 65,985,360	R1026K	probably benign	Het
Apol7b	T	C	15: 77,423,474	T274A	probably benign	Het
Arid4a	A	T	12: 71,063,142	R86*	probably null	Het
Asnsd1	C	T	1: 53,348,258	G70D	probably damaging	Het
Atg4c	T	A	4: 99,228,560	V313D	possibly damaging	Het
Atp13a5	A	C	16: 29,266,963	C885G	probably damaging	Het
Bpifb9a	A	T	2: 154,262,263	I209F	possibly damaging	Het
Bsn	T	C	9: 108,113,543	D1670G	probably damaging	Het
Cct8	T	A	16: 87,491,322	I121F	probably benign	Het
Cd209a	T	G	8: 3,744,151	D217A	probably damaging	Het
Cdk19	C	T	10: 40,477,958	S456L	possibly damaging	Het
Chd9	C	T	8: 90,994,580	H999Y	unknown	Het
Col5a1	G	A	2: 27,951,383	V339M	unknown	Het
Cr2	G	A	1: 195,169,340	R115*	probably null	Het
Cyb561	A	T	11: 105,937,644	F62I	probably damaging	Het
Cyp2c38	A	T	19: 39,404,743	N293K	possibly damaging	Het
Cyp2c69	A	T	19: 39,859,898	D293E	probably damaging	Het
Dcbld2	T	A	16: 58,424,569	C69S	possibly damaging	Het
Dcdc2a	T	C	13: 25,119,373	S296P	probably benign	Het
Dmxl1	T	A	18: 49,893,957	I2044K	possibly damaging	Het
Dnah5	A	G	15: 28,346,952	D2527G	probably damaging	Het
Dnah6	T	C	6: 73,149,430	T1305A	probably benign	Het
Dnajc9	A	G	14: 20,388,644	V47A	probably benign	Het
Dnmt3b	A	G	2: 153,676,699	Y594C	probably damaging	Het
Drap1	T	C	19: 5,423,352	H164R	possibly damaging	Het
Dsg3	T	A	18: 20,527,780	V392E	possibly damaging	Het
Dxo	A	G	17: 34,837,640	D81G	probably benign	Het
E230025N22Rik	G	T	18: 36,695,592	T11K	probably benign	Het
Esyt1	A	G	10: 128,518,932	V533A	possibly damaging	Het
Etv3	T	A	3: 87,536,031	C307*	probably null	Het
Fam114a1	T	A	5: 65,030,059		probably null	Het
Fam208b	A	G	13: 3,573,621	Y2110H	probably damaging	Het
Fam3c	T	A	6: 22,326,405		probably benign	Het
Fbn1	G	T	2: 125,397,852	T305K	probably benign	Het
Ggt1	A	T	10: 75,585,594	I484F	probably damaging	Het
Gm10639	A	T	9: 78,304,469	D171V	possibly damaging	Het
Gpatch1	T	C	7: 35,293,812	D536G	probably damaging	Het
Gpx4	T	C	10: 80,055,041	I189T	probably damaging	Het
Gsr	T	A	8: 33,669,165	C85S	probably damaging	Het
Havcr1	T	A	11: 46,770,542		probably null	Het
Heatr4	T	C	12: 83,979,644	T280A	probably benign	Het
Hmcn2	A	T	2: 31,423,911	E3532D	probably benign	Het
Hnrnpc	T	C	14: 52,075,099	N308S	possibly damaging	Het
Ighv8-9	A	G	12: 115,468,738	V13A	probably benign	Het
Itgb2l	A	T	16: 96,426,239	F535I	probably benign	Het
Kdm5a	T	G	6: 120,427,842	D1348E	probably damaging	Het
Kndc1	CT	C	7: 139,923,775		probably null	Het
Ky	A	G	9: 102,542,329	I512V	probably benign	Het
Lamc1	A	T	1: 153,243,275	F866Y	possibly damaging	Het
Lbx1	C	A	19: 45,235,248		probably benign	Het
Magel2	A	G	7: 62,378,910	T521A	possibly damaging	Het
Mgam	A	T	6: 40,746,433	I491L	probably benign	Het
Mitd1	T	C	1: 37,890,192	E40G	probably damaging	Het
Mpzl3	A	G	9: 45,070,687	T218A	probably benign	Het
Mrpl42	A	G	10: 95,480,965	S77P	probably benign	Het
Mup5	C	T	4: 61,834,674	W37*	probably null	Het
Myh14	T	C	7: 44,632,426	I803V	probably benign	Het
Ncor2	T	A	5: 125,030,089	T744S		Het
Ndufv3	A	G	17: 31,527,622	D162G	probably damaging	Het
Nostrin	A	G	2: 69,175,806	E278G	probably damaging	Het
Nrxn1	T	G	17: 90,162,379	E1288A	probably benign	Het
Olfr1205	A	G	2: 88,831,128	N4D	possibly damaging	Het
Olfr623	C	A	7: 103,660,881	R123L	probably damaging	Het
Olfr648	T	A	7: 104,179,748	Y220F	probably damaging	Het
Olfr972	A	T	9: 39,873,455	Y60F	possibly damaging	Het
Patj	T	A	4: 98,424,500		probably null	Het
Pcm1	T	G	8: 41,267,344	I314R	possibly damaging	Het
Pcsk6	A	G	7: 66,033,898	T754A	probably benign	Het
Pde2a	A	T	7: 101,502,834	N326I	probably benign	Het
Plekhg4	T	C	8: 105,378,684	S594P	possibly damaging	Het
Plekhm3	T	C	1: 64,937,906	D135G	probably damaging	Het
Plin4	A	T	17: 56,106,776	M283K	probably benign	Het
Ppfia3	T	C	7: 45,340,748		probably null	Het
Prdm9	T	C	17: 15,555,652	N179S	probably benign	Het
Prrt3	T	C	6: 113,494,488	S908G	probably damaging	Het
Psg22	C	A	7: 18,722,735	S181Y	possibly damaging	Het
Rcor3	C	A	1: 192,137,876	G8V	probably damaging	Het
Rp1l1	T	A	14: 64,031,574	C1536*	probably null	Het
Rpp25l	T	C	4: 41,712,529	H82R	probably damaging	Het
Rps3a1	T	A	3: 86,139,089	M172L	probably benign	Het
Rtbdn	T	C	8: 84,952,927	L110P	probably damaging	Het
Ryr1	T	A	7: 29,078,585	Q2169L	probably damaging	Het
Scn4a	A	T	11: 106,320,473	C1573S	possibly damaging	Het
Sec16b	A	T	1: 157,531,395		probably null	Het
Serpina1a	A	T	12: 103,853,837	D383E	possibly damaging	Het
Sh3gl3	T	C	7: 82,285,077	M262T	probably benign	Het
Sos2	G	A	12: 69,590,880	T1052M	probably damaging	Het
Spag16	G	A	1: 69,996,841	V343I	probably benign	Het
Spocd1	T	G	4: 129,930,164	D251E		Het
Stc2	G	T	11: 31,367,798	N74K	probably damaging	Het
Thbs3	C	T	3: 89,219,052	Q227*	probably null	Het
Tmem92	A	C	11: 94,778,990	I105R	probably benign	Het
Tmod1	T	A	4: 46,083,632	N20K	probably benign	Het
Tns1	T	C	1: 73,953,479	D53G	probably damaging	Het
Tspan33	T	A	6: 29,717,338	L246Q	probably damaging	Het
Ttc16	A	G	2: 32,768,968	L392P	probably damaging	Het
Uggt1	T	A	1: 36,185,838	T572S	probably benign	Het
Usp17la	A	T	7: 104,860,397	T70S	probably damaging	Het
Usp31	C	T	7: 121,674,963	R370H	probably damaging	Het
Wdr83	C	T	8: 85,079,834	V112M	probably damaging	Het
Zbtb25	T	A	12: 76,369,592		probably benign	Het
Zfp110	T	A	7: 12,849,340	N638K	possibly damaging	Het
Zfp820	T	C	17: 21,819,013	T445A	probably benign	Het

Other mutations in Dph7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00828:Dph7	APN	2	24,971,643 (GRCm38)	missense	probably benign	0.00
IGL01021:Dph7	APN	2	24,971,923 (GRCm38)	splice site	probably null
IGL01322:Dph7	APN	2	24,965,617 (GRCm38)	missense	possibly damaging	0.85
IGL02393:Dph7	APN	2	24,966,597 (GRCm38)	missense	possibly damaging	0.89
IGL03286:Dph7	APN	2	24,966,616 (GRCm38)	missense	probably damaging	1.00
R0614:Dph7	UTSW	2	24,968,956 (GRCm38)	critical splice donor site	probably null
R1169:Dph7	UTSW	2	24,966,571 (GRCm38)	missense	probably benign	0.06
R1696:Dph7	UTSW	2	24,969,680 (GRCm38)	critical splice donor site	probably null
R2000:Dph7	UTSW	2	24,971,641 (GRCm38)	missense	probably benign	0.03
R4274:Dph7	UTSW	2	24,963,500 (GRCm38)	missense	possibly damaging	0.66
R4738:Dph7	UTSW	2	24,963,131 (GRCm38)	missense	possibly damaging	0.91
R4740:Dph7	UTSW	2	24,963,131 (GRCm38)	missense	possibly damaging	0.91
R5475:Dph7	UTSW	2	24,968,957 (GRCm38)	splice site	probably null
R6019:Dph7	UTSW	2	24,963,540 (GRCm38)	nonsense	probably null
R6645:Dph7	UTSW	2	24,965,651 (GRCm38)	missense	probably benign	0.02
R7443:Dph7	UTSW	2	24,962,493 (GRCm38)	missense	probably benign
R7920:Dph7	UTSW	2	24,971,612 (GRCm38)	missense	probably benign
R8135:Dph7	UTSW	2	24,969,544 (GRCm38)	missense	probably benign	0.02
R9134:Dph7	UTSW	2	24,971,708 (GRCm38)	missense	probably benign	0.02
R9448:Dph7	UTSW	2	24,971,940 (GRCm38)	missense	probably damaging	1.00
R9672:Dph7	UTSW	2	24,965,594 (GRCm38)	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- AGCAACATCTAGGTATGAAAGCA -3'
(R):5'- ACAGTCCAAAATGCTACAAGTTT -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- AGTACACTGTAGCTGTCTTCAGAC -3'

Posted On

2019-10-17