Mutagenetix > Incidental Mutation

Incidental Mutation 'R5444:Dhdds'

427324

Institutional Source

Beutler Lab

Gene Symbol

Dhdds

Ensembl Gene

ENSMUSG00000012117

Gene Name

dehydrodolichyl diphosphate synthase

Synonyms

3222401G21Rik

MMRRC Submission

043009-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5444 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133696339-133728229 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 133698447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 295 (R295*)

Ref Sequence

ENSEMBL: ENSMUSP00000116098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012262] [ENSMUST00000100472] [ENSMUST00000102552] [ENSMUST00000102553] [ENSMUST00000105885] [ENSMUST00000105886] [ENSMUST00000105887] [ENSMUST00000130464] [ENSMUST00000144668] [ENSMUST00000136327] [ENSMUST00000105889] [ENSMUST00000105893]

AlphaFold

Q99KU1

Predicted Effect

probably null
Transcript: ENSMUST00000012262
AA Change: R295*

SMART Domains

Protein: ENSMUSP00000012262
Gene: ENSMUSG00000012117
AA Change: R295*

Domain	Start	End	E-Value	Type
Pfam:Prenyltransf	32	256	1.5e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100472

SMART Domains

Protein: ENSMUSP00000098040
Gene: ENSMUSG00000003038

Domain	Start	End	E-Value	Type
HMG17	2	88	1.67e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102552

SMART Domains

Protein: ENSMUSP00000099612
Gene: ENSMUSG00000003038

Domain	Start	End	E-Value	Type
HMG17	2	86	4.6e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102553

SMART Domains

Protein: ENSMUSP00000099613
Gene: ENSMUSG00000003038

Domain	Start	End	E-Value	Type
HMG17	2	86	4.6e-41	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000105885
AA Change: R261*

SMART Domains

Protein: ENSMUSP00000101509
Gene: ENSMUSG00000012117
AA Change: R261*

Domain	Start	End	E-Value	Type
Pfam:Prenyltransf	32	149	5.2e-42	PFAM
Pfam:Prenyltransf	145	222	1.4e-26	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000105886
AA Change: R256*

SMART Domains

Protein: ENSMUSP00000101510
Gene: ENSMUSG00000012117
AA Change: R256*

Domain	Start	End	E-Value	Type
Pfam:Prenyltransf	32	109	9.8e-32	PFAM
Pfam:Prenyltransf	104	217	6.2e-39	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000105887
AA Change: R296*

SMART Domains

Protein: ENSMUSP00000101511
Gene: ENSMUSG00000012117
AA Change: R296*

Domain	Start	End	E-Value	Type
Pfam:Prenyltransf	32	255	6.4e-79	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000130464
AA Change: R130*

SMART Domains

Protein: ENSMUSP00000121656
Gene: ENSMUSG00000012117
AA Change: R130*

Domain	Start	End	E-Value	Type
Pfam:Prenyltransf	1	54	1.8e-8	PFAM
Pfam:Prenyltransf	50	99	2.6e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134096

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142660

Predicted Effect

probably null
Transcript: ENSMUST00000144668
AA Change: R295*

SMART Domains

Protein: ENSMUSP00000116098
Gene: ENSMUSG00000012117
AA Change: R295*

Domain	Start	End	E-Value	Type
Pfam:Prenyltransf	32	256	1.5e-84	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145025

Predicted Effect

probably benign
Transcript: ENSMUST00000136327

SMART Domains

Protein: ENSMUSP00000114704
Gene: ENSMUSG00000003038

Domain	Start	End	E-Value	Type
HMG17	2	86	1.99e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105889

SMART Domains

Protein: ENSMUSP00000101512
Gene: ENSMUSG00000012117

Domain	Start	End	E-Value	Type
Pfam:Prenyltransf	32	256	5.6e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123234

SMART Domains

Protein: ENSMUSP00000120795
Gene: ENSMUSG00000003038

Domain	Start	End	E-Value	Type
HMG17	28	108	1.13e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105893

SMART Domains

Protein: ENSMUSP00000101513
Gene: ENSMUSG00000003038

Domain	Start	End	E-Value	Type
HMG17	12	92	1.13e-35	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153622

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146241

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	G	5: 26,684,735 (GRCm39)		noncoding transcript	Het
Adam11	A	G	11: 102,663,674 (GRCm39)	Q284R	probably damaging	Het
Adamts17	T	A	7: 66,691,647 (GRCm39)	H610Q	probably benign	Het
Alg6	A	G	4: 99,629,816 (GRCm39)	Y131C	probably benign	Het
Apol9b	T	C	15: 77,619,963 (GRCm39)	I253T	probably damaging	Het
Asb4	T	A	6: 5,431,040 (GRCm39)	I425N	probably damaging	Het
Atic	T	C	1: 71,615,876 (GRCm39)	L474P	probably damaging	Het
B3glct	C	T	5: 149,669,985 (GRCm39)	T318I	probably damaging	Het
Bbs7	T	C	3: 36,666,199 (GRCm39)	K22E	possibly damaging	Het
Cdk17	T	G	10: 93,053,823 (GRCm39)		probably null	Het
Cemip	T	A	7: 83,631,499 (GRCm39)	T438S	probably damaging	Het
Chd2	T	C	7: 73,122,833 (GRCm39)	E967G	probably damaging	Het
Cyp2d26	G	T	15: 82,676,739 (GRCm39)	D202E	probably benign	Het
Eef2kmt	G	A	16: 5,066,959 (GRCm39)		probably benign	Het
Fn3krp	G	A	11: 121,312,430 (GRCm39)		probably null	Het
Gjc3	G	A	5: 137,955,809 (GRCm39)	L159F	probably damaging	Het
Gm28434	T	C	5: 88,127,147 (GRCm39)		probably benign	Het
Gp2	G	A	7: 119,053,821 (GRCm39)	P47S	possibly damaging	Het
Irf7	C	T	7: 140,844,732 (GRCm39)		probably benign	Het
Itgb8	T	C	12: 119,201,573 (GRCm39)		probably benign	Het
Kcnb2	A	T	1: 15,781,716 (GRCm39)	I863F	probably benign	Het
Lamb1	T	C	12: 31,348,908 (GRCm39)	F647L	possibly damaging	Het
Mccc1	T	A	3: 36,030,891 (GRCm39)	M392L	probably benign	Het
Mtmr10	T	C	7: 63,938,149 (GRCm39)		probably null	Het
Ncstn	A	C	1: 171,900,406 (GRCm39)	V223G	possibly damaging	Het
Neurl3	G	T	1: 36,308,571 (GRCm39)	F80L	probably damaging	Het
Nf1	T	C	11: 79,334,785 (GRCm39)	M869T	possibly damaging	Het
Nfatc2	A	G	2: 168,376,810 (GRCm39)		probably benign	Het
Nnat	T	C	2: 157,403,137 (GRCm39)	F26S	possibly damaging	Het
Nos1ap	T	C	1: 170,202,820 (GRCm39)	Y109C	probably damaging	Het
Nup205	T	A	6: 35,166,124 (GRCm39)	D194E	probably damaging	Het
Or10ak11	T	A	4: 118,687,308 (GRCm39)	I109L	probably benign	Het
Or3a4	T	C	11: 73,944,803 (GRCm39)	S261G	probably benign	Het
Or52k2	C	T	7: 102,254,076 (GRCm39)	R172*	probably null	Het
Or5b109	A	T	19: 13,212,322 (GRCm39)	Q236L	probably benign	Het
Or9g3	A	T	2: 85,590,263 (GRCm39)	F152L	probably benign	Het
Ostf1	A	G	19: 18,558,677 (GRCm39)	L202S	probably benign	Het
Pdzrn4	T	A	15: 92,668,806 (GRCm39)	M747K	probably damaging	Het
Plxnb1	A	G	9: 108,935,521 (GRCm39)	D1019G	probably benign	Het
Pnlip	A	G	19: 58,661,595 (GRCm39)	I95V	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppp1r13b	T	A	12: 111,805,122 (GRCm39)	T197S	probably benign	Het
Rasgrp3	A	T	17: 75,810,370 (GRCm39)	I357F	probably damaging	Het
Rbmxl2	G	C	7: 106,809,044 (GRCm39)	G110R	probably damaging	Het
Relch	C	T	1: 105,654,109 (GRCm39)	T826I	possibly damaging	Het
Rgs22	T	C	15: 36,015,773 (GRCm39)	D1037G	possibly damaging	Het
Rnf215	A	G	11: 4,085,843 (GRCm39)	I107M	probably benign	Het
Rybp	A	T	6: 100,264,231 (GRCm39)	M3K	probably damaging	Het
Sgo2b	T	C	8: 64,379,590 (GRCm39)	S1081G	possibly damaging	Het
Slfn10-ps	C	T	11: 82,926,113 (GRCm39)		noncoding transcript	Het
Spag17	T	C	3: 99,963,468 (GRCm39)	V1062A	probably benign	Het
Sult2a1	A	T	7: 13,569,944 (GRCm39)	I96K	possibly damaging	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Thbs3	T	C	3: 89,130,692 (GRCm39)		probably benign	Het
Tmub2	T	C	11: 102,179,066 (GRCm39)	L255S	possibly damaging	Het
Trank1	T	A	9: 111,222,026 (GRCm39)	L2921Q	probably benign	Het
Trappc14	A	T	5: 138,259,260 (GRCm39)		probably null	Het
Tuba8	A	T	6: 121,203,060 (GRCm39)		probably benign	Het
Vmn2r25	T	C	6: 123,805,451 (GRCm39)	I469V	probably benign	Het
Zfp1007	A	T	5: 109,823,502 (GRCm39)	Y649*	probably null	Het

Other mutations in Dhdds

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Dhdds	APN	4	133,727,571 (GRCm39)	splice site	probably benign
IGL01566:Dhdds	APN	4	133,718,648 (GRCm39)	missense	probably damaging	0.99
IGL03024:Dhdds	APN	4	133,710,160 (GRCm39)	missense	probably damaging	1.00
IGL03115:Dhdds	APN	4	133,710,182 (GRCm39)	missense	probably benign
LCD18:Dhdds	UTSW	4	133,697,674 (GRCm39)	utr 3 prime	probably benign
R0622:Dhdds	UTSW	4	133,721,547 (GRCm39)	missense	probably damaging	1.00
R2036:Dhdds	UTSW	4	133,698,410 (GRCm39)	missense	probably damaging	1.00
R5284:Dhdds	UTSW	4	133,707,523 (GRCm39)	missense	probably benign	0.06
R5780:Dhdds	UTSW	4	133,724,141 (GRCm39)	missense	probably damaging	1.00
R5781:Dhdds	UTSW	4	133,724,141 (GRCm39)	missense	probably damaging	1.00
R6723:Dhdds	UTSW	4	133,721,576 (GRCm39)	missense	probably damaging	1.00
R7362:Dhdds	UTSW	4	133,698,441 (GRCm39)	missense	probably benign	0.04
R7496:Dhdds	UTSW	4	133,698,565 (GRCm39)	missense	possibly damaging	0.96
R7696:Dhdds	UTSW	4	133,724,225 (GRCm39)	missense	probably damaging	1.00
R8037:Dhdds	UTSW	4	133,724,158 (GRCm39)	missense	probably benign	0.00
R8187:Dhdds	UTSW	4	133,727,679 (GRCm39)	start gained	probably benign
R8951:Dhdds	UTSW	4	133,719,857 (GRCm39)	missense	possibly damaging	0.60
R9502:Dhdds	UTSW	4	133,707,497 (GRCm39)	missense	probably damaging	1.00
R9758:Dhdds	UTSW	4	133,727,706 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AACAGAGGGAGCCCAATTC -3'
(R):5'- GTACTTGGCCATTCTGTGCC -3'

Sequencing Primer
(F):5'- CAAAAACAGGGAAGTGCCTTTTC -3'
(R):5'- GGCCATTCTGTGCCCTATC -3'

Posted On

2016-09-01