Mutagenetix > Incidental Mutation

Incidental Mutation 'R4666:Dph1'

351952

Institutional Source

Beutler Lab

Gene Symbol

Dph1

Ensembl Gene

ENSMUSG00000078789

Gene Name

diphthamide biosynthesis 1

Synonyms

Dph2l1, 4930488F09Rik, Ovca1

MMRRC Submission

041924-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4666 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75068469-75081309 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75072156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 238 (S238P)

Ref Sequence

ENSEMBL: ENSMUSP00000042162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044949] [ENSMUST00000071562] [ENSMUST00000139958]

AlphaFold

Q5NCQ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000044949
AA Change: S238P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042162
Gene: ENSMUSG00000078789
AA Change: S238P

Domain	Start	End	E-Value	Type
Pfam:Diphthamide_syn	76	377	5.3e-123	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071562

SMART Domains

Protein: ENSMUSP00000071493
Gene: ENSMUSG00000038268

Domain	Start	End	E-Value	Type
Pfam:FSH1	1	216	1.2e-57	PFAM
Pfam:Abhydrolase_2	60	225	2.4e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123489

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134252

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139958
AA Change: S224P

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116537
Gene: ENSMUSG00000078789
AA Change: S224P

Domain	Start	End	E-Value	Type
Pfam:Diphthamide_syn	62	276	1.1e-79	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156489

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene die perinatally of respiratory distress or earlier. Numerous systems are affected. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 37,289,794 (GRCm39)	S12L	probably benign	Het
Abce1	A	G	8: 80,414,115 (GRCm39)	V532A	probably damaging	Het
Adamts12	T	A	15: 11,311,578 (GRCm39)	N1278K	probably benign	Het
Adipor1	T	A	1: 134,352,643 (GRCm39)	I138N	probably damaging	Het
Aox1	C	T	1: 58,343,756 (GRCm39)	Q480*	probably null	Het
Arhgef38	C	T	3: 132,846,533 (GRCm39)		probably null	Het
Atmin	A	G	8: 117,684,698 (GRCm39)	D786G	probably damaging	Het
Bltp3a	G	T	17: 28,112,477 (GRCm39)	W1222L	possibly damaging	Het
Capn1	A	T	19: 6,061,045 (GRCm39)	N253K	probably benign	Het
Cdh8	T	C	8: 99,751,534 (GRCm39)	T728A	possibly damaging	Het
Celsr1	A	G	15: 85,914,695 (GRCm39)	S1093P	probably damaging	Het
Cep135	C	A	5: 76,764,701 (GRCm39)	P560T	probably benign	Het
Chfr	C	T	5: 110,292,733 (GRCm39)	Q167*	probably null	Het
Chrna4	A	G	2: 180,679,286 (GRCm39)	S54P	probably damaging	Het
Cntln	A	G	4: 84,889,453 (GRCm39)	N312S	probably benign	Het
Cntn6	A	G	6: 104,705,245 (GRCm39)	E154G	probably benign	Het
Col6a6	T	A	9: 105,644,541 (GRCm39)	Y1249F	possibly damaging	Het
Cpsf2	T	C	12: 101,949,466 (GRCm39)	S61P	probably damaging	Het
Cpvl	C	T	6: 53,908,918 (GRCm39)	E282K	probably benign	Het
Cryba2	C	T	1: 74,929,207 (GRCm39)	D179N	probably benign	Het
Daglb	A	T	5: 143,489,104 (GRCm39)	R654W	probably damaging	Het
Dennd3	A	G	15: 73,442,709 (GRCm39)	D1244G	probably damaging	Het
Dhx57	T	C	17: 80,582,390 (GRCm39)	E405G	probably damaging	Het
Dnah10	T	C	5: 124,905,536 (GRCm39)	M4060T	possibly damaging	Het
Duox1	C	T	2: 122,149,956 (GRCm39)	P116S	probably benign	Het
Ebf1	A	G	11: 44,882,384 (GRCm39)	N447D	probably damaging	Het
Epg5	A	G	18: 78,056,079 (GRCm39)	N1751S	probably benign	Het
Exoc6	A	G	19: 37,558,953 (GRCm39)	D75G	probably damaging	Het
Extl2	T	A	3: 115,817,856 (GRCm39)	I70N	probably damaging	Het
Fanca	T	C	8: 123,995,711 (GRCm39)	T1364A	probably damaging	Het
Fbln7	T	A	2: 128,736,830 (GRCm39)		probably null	Het
Foxa3	G	T	7: 18,748,297 (GRCm39)	C275*	probably null	Het
Foxred1	C	T	9: 35,122,151 (GRCm39)		probably benign	Het
Galr2	A	G	11: 116,174,455 (GRCm39)	T362A	probably benign	Het
Garem2	C	A	5: 30,319,665 (GRCm39)	R376S	probably damaging	Het
Garre1	T	C	7: 33,984,198 (GRCm39)	M142V	probably damaging	Het
Gatc	T	A	5: 115,473,606 (GRCm39)	N111I	probably benign	Het
Gjb4	C	A	4: 127,245,571 (GRCm39)	K123N	probably damaging	Het
Gm9894	T	C	13: 67,913,213 (GRCm39)		noncoding transcript	Het
Gtdc1	T	C	2: 44,481,937 (GRCm39)	N301S	probably benign	Het
Gtf2ird1	T	A	5: 134,412,756 (GRCm39)	E55V	probably damaging	Het
Gtsf1	T	C	15: 103,329,632 (GRCm39)	I96V	probably benign	Het
Homer1	T	A	13: 93,538,667 (GRCm39)	I170N	probably damaging	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Hoxb9	A	G	11: 96,165,657 (GRCm39)	K242R	possibly damaging	Het
Ifna14	T	C	4: 88,489,573 (GRCm39)	R155G	probably benign	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Lsm11	A	G	11: 45,824,640 (GRCm39)	S296P	probably damaging	Het
Macrod2	T	C	2: 142,059,519 (GRCm39)	L265P	probably damaging	Het
Mcu	G	A	10: 59,292,521 (GRCm39)	L53F	probably damaging	Het
Mpv17l2	A	G	8: 71,213,061 (GRCm39)	V104A	possibly damaging	Het
Myh10	G	A	11: 68,692,556 (GRCm39)		probably null	Het
Nemf	T	C	12: 69,359,054 (GRCm39)	E1031G	probably damaging	Het
Nhsl1	G	A	10: 18,407,153 (GRCm39)	S1395N	probably damaging	Het
Niban3	G	T	8: 72,056,469 (GRCm39)	E390*	probably null	Het
Nlrp2	T	A	7: 5,322,188 (GRCm39)	I82F	probably benign	Het
Nlrp4e	T	A	7: 23,036,205 (GRCm39)	L686*	probably null	Het
Nudt12os	T	A	17: 59,331,546 (GRCm39)		noncoding transcript	Het
Or10ag57	T	A	2: 87,218,220 (GRCm39)	I57K	probably damaging	Het
Or10j5	G	A	1: 172,785,157 (GRCm39)	S265N	probably benign	Het
Or2h1b	A	T	17: 37,462,270 (GRCm39)	S44T	possibly damaging	Het
Or5ac23	A	G	16: 59,149,573 (GRCm39)	Y100H	possibly damaging	Het
Or5k16	T	C	16: 58,736,947 (GRCm39)	D19G	probably benign	Het
Or8g27	T	A	9: 39,129,142 (GRCm39)	M163K	probably damaging	Het
Pde7a	T	C	3: 19,314,420 (GRCm39)	T59A	probably damaging	Het
Pde7b	A	C	10: 20,314,496 (GRCm39)	D203E	probably damaging	Het
Phkg2	T	A	7: 127,177,156 (GRCm39)	I94N	possibly damaging	Het
Pik3r2	G	A	8: 71,221,503 (GRCm39)	T667I	possibly damaging	Het
Pitx3	T	A	19: 46,125,540 (GRCm39)	H68L	possibly damaging	Het
Prcd	A	G	11: 116,558,990 (GRCm39)		probably benign	Het
Prune2	C	T	19: 17,097,552 (GRCm39)	R1019*	probably null	Het
Psap	A	G	10: 60,136,324 (GRCm39)	D486G	probably benign	Het
Purb	A	T	11: 6,425,615 (GRCm39)	V91E	probably damaging	Het
Recql	C	A	6: 142,322,567 (GRCm39)	V112F	probably damaging	Het
Rptor	A	T	11: 119,634,708 (GRCm39)	I175F	probably damaging	Het
Sbf1	C	T	15: 89,179,449 (GRCm39)	V1385M	probably damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Slc35f6	T	C	5: 30,812,957 (GRCm39)	L37P	probably damaging	Het
Slc6a3	T	A	13: 73,686,700 (GRCm39)	N22K	possibly damaging	Het
Sorl1	A	T	9: 41,915,347 (GRCm39)	M1294K	probably damaging	Het
Sp6	C	A	11: 96,912,701 (GRCm39)	A138E	probably benign	Het
Spag8	G	T	4: 43,653,408 (GRCm39)		probably benign	Het
Spmip4	G	T	6: 50,572,808 (GRCm39)	T35K	possibly damaging	Het
Spon1	T	A	7: 113,628,204 (GRCm39)	M320K	probably benign	Het
Tceanc2	A	T	4: 107,022,757 (GRCm39)	S77T	probably damaging	Het
Thsd7a	T	A	6: 12,337,313 (GRCm39)	T1235S	possibly damaging	Het
Thsd7a	T	A	6: 12,504,012 (GRCm39)	I381F	possibly damaging	Het
Tmc4	T	C	7: 3,674,270 (GRCm39)		probably null	Het
Tmprss11d	T	C	5: 86,457,260 (GRCm39)	D133G	probably damaging	Het
Trav13n-3	T	A	14: 53,574,953 (GRCm39)	V65D	probably damaging	Het
Trpm1	G	T	7: 63,852,782 (GRCm39)	L65F	probably damaging	Het
Tyk2	C	T	9: 21,025,503 (GRCm39)	A741T	probably damaging	Het
Ube2v1	T	A	2: 167,452,297 (GRCm39)	Y102F	probably damaging	Het
Uckl1	A	T	2: 181,216,661 (GRCm39)	S95T	possibly damaging	Het
Vcan	C	A	13: 89,828,053 (GRCm39)	W2171L	probably damaging	Het
Vinac1	T	C	2: 128,880,150 (GRCm39)	H592R	probably benign	Het
Vmn1r64	T	C	7: 5,887,357 (GRCm39)	N62S	probably damaging	Het
Vmn2r67	T	C	7: 84,799,831 (GRCm39)	D469G	probably benign	Het
Vps13b	A	G	15: 35,640,690 (GRCm39)	S1352G	probably benign	Het
Zbtb38	C	T	9: 96,570,436 (GRCm39)	R216H	probably damaging	Het

Other mutations in Dph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Dph1	APN	11	75,071,775 (GRCm39)	splice site	probably benign
IGL01317:Dph1	APN	11	75,071,486 (GRCm39)	missense	probably benign	0.00
IGL01872:Dph1	APN	11	75,072,167 (GRCm39)	missense	probably damaging	1.00
IGL02036:Dph1	APN	11	75,074,991 (GRCm39)	splice site	probably null
IGL02386:Dph1	APN	11	75,074,428 (GRCm39)	missense	probably benign	0.00
IGL02658:Dph1	APN	11	75,071,461 (GRCm39)	missense	probably benign	0.08
IGL02985:Dph1	APN	11	75,074,419 (GRCm39)	missense	possibly damaging	0.67
R0610:Dph1	UTSW	11	75,076,783 (GRCm39)	splice site	probably benign
R1847:Dph1	UTSW	11	75,070,557 (GRCm39)	missense	probably damaging	0.96
R1878:Dph1	UTSW	11	75,075,053 (GRCm39)	missense	probably damaging	1.00
R2037:Dph1	UTSW	11	75,076,679 (GRCm39)	splice site	probably null
R4569:Dph1	UTSW	11	75,069,721 (GRCm39)	unclassified	probably benign
R6033:Dph1	UTSW	11	75,082,023 (GRCm39)	start gained	probably benign
R6033:Dph1	UTSW	11	75,082,023 (GRCm39)	start gained	probably benign
R6451:Dph1	UTSW	11	75,072,143 (GRCm39)	missense	probably damaging	0.99
R7149:Dph1	UTSW	11	75,070,001 (GRCm39)	missense	probably benign	0.00
R7698:Dph1	UTSW	11	75,081,267 (GRCm39)	missense	probably benign	0.01
R7776:Dph1	UTSW	11	75,081,272 (GRCm39)	missense	probably benign
R9299:Dph1	UTSW	11	75,070,622 (GRCm39)	missense	possibly damaging	0.69
R9563:Dph1	UTSW	11	75,076,825 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GCATTCCTGGGTCTAAATTCCAG -3'
(R):5'- CTGCATCACACAGCTGTCTC -3'

Sequencing Primer
(F):5'- GGGTCTAAATTCCAGATGTGCCC -3'
(R):5'- TCCTTGCTGGACATACAAGAGGC -3'

Posted On

2015-10-08