Mutagenetix > Incidental Mutation

Incidental Mutation 'R6982:Dph2'

542719

Institutional Source

Beutler Lab

Gene Symbol

Dph2

Ensembl Gene

ENSMUSG00000028540

Gene Name

DPH2 homolog

Synonyms

Dph2l2, 9130020C19Rik

MMRRC Submission

045383-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6982 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117745838-117749220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117746993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 435 (I435N)

Ref Sequence

ENSEMBL: ENSMUSP00000030265 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030265] [ENSMUST00000036156] [ENSMUST00000036380] [ENSMUST00000132073] [ENSMUST00000136596] [ENSMUST00000147845] [ENSMUST00000149868] [ENSMUST00000150204] [ENSMUST00000183773]

AlphaFold

Q9CR25

Predicted Effect

probably benign
Transcript: ENSMUST00000030265
AA Change: I435N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030265
Gene: ENSMUSG00000028540
AA Change: I435N

Domain	Start	End	E-Value	Type
Pfam:Diphthamide_syn	54	375	2.8e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036156

SMART Domains

Protein: ENSMUSP00000035989
Gene: ENSMUSG00000033365

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
IBN_N	45	111	2.05e-7	SMART
Pfam:Xpo1	116	263	4.8e-29	PFAM
low complexity region	668	692	N/A	INTRINSIC
low complexity region	767	779	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000036380

SMART Domains

Protein: ENSMUSP00000047682
Gene: ENSMUSG00000033379

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:ATP-synt_C	50	112	1.2e-15	PFAM
Pfam:ATP-synt_C	136	198	1.8e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132073

SMART Domains

Protein: ENSMUSP00000137654
Gene: ENSMUSG00000033379

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	2	67	1.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136596

Predicted Effect

probably benign
Transcript: ENSMUST00000147845

Predicted Effect

probably benign
Transcript: ENSMUST00000149868

SMART Domains

Protein: ENSMUSP00000137788
Gene: ENSMUSG00000033379

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	2	67	3.1e-19	PFAM
transmembrane domain	84	106	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150204

SMART Domains

Protein: ENSMUSP00000119988
Gene: ENSMUSG00000033379

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	2	67	8.2e-19	PFAM
Pfam:ATP-synt_C	88	152	1.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183773

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. Diphthamide is a post-translationally modified histidine residue present in elongation factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	T	A	13: 70,916,639 (GRCm39)		probably null	Het
Adamtsl3	C	A	7: 82,164,271 (GRCm39)	P362H	probably damaging	Het
Ambra1	G	A	2: 91,747,818 (GRCm39)	V1065I	probably damaging	Het
Ankrd66	T	C	17: 43,849,926 (GRCm39)	T79A	probably damaging	Het
Ano2	G	A	6: 125,969,856 (GRCm39)	R724H	probably benign	Het
Bmp8a	A	G	4: 123,218,934 (GRCm39)	L158P	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cilp	T	C	9: 65,187,087 (GRCm39)	Y1061H	probably damaging	Het
Clybl	G	A	14: 122,639,359 (GRCm39)	G308R	probably damaging	Het
Cntnap5c	C	T	17: 58,399,247 (GRCm39)	P367S	possibly damaging	Het
Col20a1	T	C	2: 180,638,499 (GRCm39)	V371A	probably benign	Het
Col24a1	G	T	3: 145,020,807 (GRCm39)	G393*	probably null	Het
Dnah12	A	G	14: 26,521,033 (GRCm39)		probably null	Het
Dnah8	T	A	17: 30,986,899 (GRCm39)	S3183T	probably benign	Het
Fam3c	G	T	6: 22,322,300 (GRCm39)	A107D	probably damaging	Het
Fezf2	G	T	14: 12,343,645 (GRCm38)	Q367K	probably damaging	Het
Gbp2	A	G	3: 142,335,846 (GRCm39)	D182G	probably damaging	Het
Gpr162	T	A	6: 124,837,919 (GRCm39)	I244F	probably damaging	Het
Jakmip1	A	T	5: 37,282,285 (GRCm39)	N159I	probably damaging	Het
Jkampl	A	T	6: 73,446,527 (GRCm39)	Y7*	probably null	Het
Kdm4a	A	T	4: 118,010,636 (GRCm39)		probably null	Het
Klf5	A	G	14: 99,550,671 (GRCm39)	H416R	probably damaging	Het
Lrrc63	A	G	14: 75,322,211 (GRCm39)	V631A	probably benign	Het
Man1a	T	C	10: 53,950,819 (GRCm39)	E101G	possibly damaging	Het
Msantd4	T	A	9: 4,384,061 (GRCm39)	N127K	possibly damaging	Het
Myo3b	A	T	2: 70,256,409 (GRCm39)	E1248D	probably benign	Het
Ncapd2	A	T	6: 125,153,699 (GRCm39)	I672N	probably damaging	Het
Nfic	T	C	10: 81,256,634 (GRCm39)		probably null	Het
Nr1h3	A	G	2: 91,021,104 (GRCm39)	S228P	probably damaging	Het
Or8g32	T	C	9: 39,305,618 (GRCm39)	I174T	probably damaging	Het
Pccb	A	T	9: 100,905,349 (GRCm39)		probably null	Het
Pcmtd1	T	G	1: 7,217,906 (GRCm39)	V118G	probably damaging	Het
Pkhd1l1	A	T	15: 44,429,664 (GRCm39)	N3294I	probably damaging	Het
Plscr4	A	G	9: 92,364,796 (GRCm39)	T74A	probably benign	Het
Rasa2	A	T	9: 96,442,803 (GRCm39)	I540N	probably damaging	Het
Serpina3j	C	A	12: 104,283,556 (GRCm39)	T218K	probably benign	Het
Slc16a4	A	G	3: 107,206,589 (GRCm39)	D173G	probably benign	Het
Slc19a2	T	C	1: 164,084,428 (GRCm39)	L106P	possibly damaging	Het
Slc22a19	C	T	19: 7,660,334 (GRCm39)	V359M	probably benign	Het
Slc22a7	T	A	17: 46,745,563 (GRCm39)	M323L	probably benign	Het
Spata21	A	T	4: 140,824,184 (GRCm39)	N149I	possibly damaging	Het
Spink5	G	A	18: 44,110,792 (GRCm39)	G121D	probably damaging	Het
Spink5	T	C	18: 44,143,109 (GRCm39)		probably null	Het
Ssbp4	T	C	8: 71,060,815 (GRCm39)	S6G	possibly damaging	Het
Sytl2	T	C	7: 90,045,772 (GRCm39)	S641P	probably damaging	Het
Tcf3	A	T	10: 80,253,384 (GRCm39)	F215I	probably damaging	Het
Tmem150c	C	A	5: 100,240,680 (GRCm39)	D61Y	probably benign	Het
Ttc7	T	A	17: 87,614,437 (GRCm39)	F201I	probably damaging	Het
Tyw3	T	C	3: 154,285,867 (GRCm39)	I208V	probably benign	Het
Vmn1r202	T	C	13: 22,685,917 (GRCm39)	T167A	probably benign	Het
Vmn1r83	A	T	7: 12,055,763 (GRCm39)	L98Q	probably damaging	Het
Vmn2r95	T	C	17: 18,672,323 (GRCm39)	Y687H	probably damaging	Het
Wdr59	A	T	8: 112,187,445 (GRCm39)	F783L	probably benign	Het
Zfhx4	A	G	3: 5,468,890 (GRCm39)	Y3016C	probably damaging	Het
Zfp518b	T	C	5: 38,830,248 (GRCm39)	T586A	probably benign	Het

Other mutations in Dph2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0295:Dph2	UTSW	4	117,748,127 (GRCm39)	missense	possibly damaging	0.96
R1381:Dph2	UTSW	4	117,746,865 (GRCm39)	missense	probably damaging	1.00
R1958:Dph2	UTSW	4	117,749,041 (GRCm39)	missense	probably damaging	1.00
R4959:Dph2	UTSW	4	117,748,527 (GRCm39)	missense	probably damaging	1.00
R4973:Dph2	UTSW	4	117,748,527 (GRCm39)	missense	probably damaging	1.00
R5251:Dph2	UTSW	4	117,747,543 (GRCm39)	missense	probably damaging	1.00
R7383:Dph2	UTSW	4	117,748,566 (GRCm39)	missense	probably damaging	1.00
R7658:Dph2	UTSW	4	117,747,478 (GRCm39)	missense	possibly damaging	0.63
R8896:Dph2	UTSW	4	117,747,575 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GACGGCTTCTTTCACTGGTG -3'
(R):5'- CCGCATCTGGGTTTGAAAGTTG -3'

Sequencing Primer
(F):5'- TTCACTGGTGTCTGGCCCAAG -3'
(R):5'- CATCTGGGTTTGAAAGTTGGGGTTG -3'

Posted On

2018-11-28