Mutagenetix > Incidental Mutation

Incidental Mutation 'R1169:Dph7'

101422

Institutional Source

Beutler Lab

Gene Symbol

Dph7

Ensembl Gene

ENSMUSG00000026975

Gene Name

diphthamine biosynethesis 7

Synonyms

2810443J12Rik, Wdr85

MMRRC Submission

039242-MU

Accession Numbers

Essential gene?

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

Stock #

R1169 (G1)

Quality Score

158

Status

Not validated

Chromosome

Chromosomal Location

24852412-24862175 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24856583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 178 (N178K)

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 benign
Transcript: ENSMUST00000028351
AA Change: N178K

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000028351
Gene: ENSMUSG00000026975
AA Change: N178K

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

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	T	C	10: 80,419,781 (GRCm39)	E275G	probably damaging	Het
Adam10	T	A	9: 70,653,574 (GRCm39)	I123N	probably damaging	Het
Adam8	A	T	7: 139,563,842 (GRCm39)	L715Q	probably benign	Het
Adcyap1r1	T	A	6: 55,471,101 (GRCm39)	F418L	probably damaging	Het
Ankrd50	A	T	3: 38,508,401 (GRCm39)	I1322K	probably damaging	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
Atxn7	T	C	14: 14,095,468 (GRCm38)	S389P	possibly damaging	Het
C4b	A	T	17: 34,961,946 (GRCm39)	L100Q	probably benign	Het
Cacul1	G	A	19: 60,568,846 (GRCm39)	A104V	probably damaging	Het
Camsap3	T	C	8: 3,653,866 (GRCm39)	F512S	probably damaging	Het
Casp1	T	C	9: 5,299,454 (GRCm39)	V61A	possibly damaging	Het
Cfap251	GGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGA	5: 123,392,673 (GRCm39)		probably benign	Het
Chd1	T	A	17: 15,955,994 (GRCm39)	F531Y	probably damaging	Het
Clec2h	C	T	6: 128,651,758 (GRCm39)	Q156*	probably null	Het
Clip2	T	A	5: 134,521,104 (GRCm39)	E978V	probably benign	Het
Cnpy2	T	G	10: 128,159,465 (GRCm39)	L34R	probably damaging	Het
Cog6	A	T	3: 52,921,265 (GRCm39)	C114S	probably benign	Het
Col6a3	A	T	1: 90,749,736 (GRCm39)	V366E	possibly damaging	Het
Col6a5	A	G	9: 105,774,173 (GRCm39)		probably null	Het
Cplx3	T	C	9: 57,517,278 (GRCm39)	T369A	probably damaging	Het
Dmbt1	G	A	7: 130,676,254 (GRCm39)		probably null	Het
Dok1	A	G	6: 83,009,029 (GRCm39)	F218L	possibly damaging	Het
Enam	A	T	5: 88,651,117 (GRCm39)	E800D	probably damaging	Het
Fads3	A	T	19: 10,031,463 (GRCm39)	Q205L	possibly damaging	Het
Fbxo44	T	C	4: 148,240,433 (GRCm39)	H265R	probably benign	Het
Gli1	T	A	10: 127,174,320 (GRCm39)	S24C	probably damaging	Het
Gm4894	T	A	9: 49,185,526 (GRCm39)	C43*	probably null	Het
Gpbp1l1	C	T	4: 116,431,563 (GRCm39)	H74Y	possibly damaging	Het
H2-Eb2	T	A	17: 34,552,331 (GRCm39)	F59I	possibly damaging	Het
Hspa14	T	C	2: 3,499,161 (GRCm39)	N211S	possibly damaging	Het
Ifnlr1	T	G	4: 135,432,419 (GRCm39)	F285C	probably benign	Het
Igf1r	G	T	7: 67,814,875 (GRCm39)	V259L	probably benign	Het
Igf2bp2	A	T	16: 21,897,480 (GRCm39)	Y244*	probably null	Het
Ighg2c	A	T	12: 113,249,572 (GRCm39)		probably benign	Het
Ighv8-14	A	T	12: 115,772,075 (GRCm39)		probably null	Het
Iqsec2	A	G	X: 150,927,727 (GRCm39)	S87G	probably benign	Het
Itsn2	A	G	12: 4,689,694 (GRCm39)	K589R	probably damaging	Het
Khdc1a	A	C	1: 21,420,495 (GRCm39)	E38D	possibly damaging	Het
Krt42	T	G	11: 100,154,171 (GRCm39)		probably null	Het
Lpo	T	C	11: 87,708,143 (GRCm39)	N183S	possibly damaging	Het
Lrrc3	T	A	10: 77,736,764 (GRCm39)	Y224F	probably damaging	Het
Ly6g6f	T	A	17: 35,302,240 (GRCm39)	D99V	probably damaging	Het
Lyplal1	T	C	1: 185,846,531 (GRCm39)	I42V	probably benign	Het
Mis18bp1	G	A	12: 65,190,057 (GRCm39)	Q793*	probably null	Het
Myh10	T	G	11: 68,653,667 (GRCm39)	M346R	probably damaging	Het
Nav1	G	T	1: 135,382,943 (GRCm39)	H1256Q	probably damaging	Het
Nbea	A	G	3: 55,875,744 (GRCm39)	V1642A	probably benign	Het
Or4d6	C	T	19: 12,086,853 (GRCm39)	R19H	probably benign	Het
Or8b12i	T	C	9: 20,082,354 (GRCm39)	N171S	probably benign	Het
Or8i2	A	G	2: 86,852,061 (GRCm39)	F276L	probably damaging	Het
Or8k28	A	G	2: 86,285,931 (GRCm39)	I228T	possibly damaging	Het
Orm3	G	A	4: 63,276,085 (GRCm39)	V166M	probably damaging	Het
Oxct1	T	A	15: 4,120,708 (GRCm39)	I264N	probably damaging	Het
Paox	G	A	7: 139,706,244 (GRCm39)	V55I	probably benign	Het
Pde4d	C	A	13: 110,087,462 (GRCm39)		probably null	Het
Pnliprp1	A	G	19: 58,723,383 (GRCm39)	N258S	probably damaging	Het
Potegl	A	G	2: 23,146,994 (GRCm39)	K275E	possibly damaging	Het
Prl7b1	C	A	13: 27,790,887 (GRCm39)	R66L	possibly damaging	Het
Ptpre	G	T	7: 135,269,341 (GRCm39)	C261F	probably benign	Het
Rho	C	G	6: 115,909,199 (GRCm39)	N78K	probably damaging	Het
Rnf17	A	G	14: 56,751,622 (GRCm39)	N1487D	possibly damaging	Het
Ryr3	G	A	2: 112,563,359 (GRCm39)	T2922I	probably benign	Het
Saxo2	A	C	7: 82,284,379 (GRCm39)	F160V	possibly damaging	Het
Sbf2	A	T	7: 109,909,391 (GRCm39)	Y1786N	probably benign	Het
Sdad1	A	T	5: 92,446,092 (GRCm39)	V280E	probably benign	Het
Sgsm1	T	C	5: 113,427,351 (GRCm39)	D90G	probably damaging	Het
Siglec1	A	T	2: 130,916,747 (GRCm39)	D1169E	probably damaging	Het
Sim1	T	A	10: 50,857,618 (GRCm39)	V456E	probably benign	Het
Skint8	T	A	4: 111,785,710 (GRCm39)	I52N	possibly damaging	Het
Slc27a1	C	A	8: 72,033,297 (GRCm39)	R280S	probably benign	Het
Slc9a3	G	A	13: 74,298,862 (GRCm39)	V94I	probably damaging	Het
Sorcs2	C	A	5: 36,185,269 (GRCm39)	V936L	possibly damaging	Het
Syce1	A	G	7: 140,358,120 (GRCm39)	F255S	probably benign	Het
Tmc7	G	A	7: 118,150,483 (GRCm39)	S350L	probably benign	Het
Tmem200a	T	A	10: 25,870,246 (GRCm39)	I8F	probably damaging	Het
Trip6	T	C	5: 137,310,182 (GRCm39)	H322R	probably benign	Het
Vmn2r72	A	T	7: 85,400,517 (GRCm39)	N177K	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
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

Predicted Primers

Posted On

2014-01-15