Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01566:Dhdds'

90980

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dhdds

Ensembl Gene

ENSMUSG00000012117

Gene Name

dehydrodolichyl diphosphate synthase

Synonyms

3222401G21Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01566

Quality Score

Status

Chromosome

Chromosomal Location

133696339-133728229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133718648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 162 (I162V)

Ref Sequence

ENSEMBL: ENSMUSP00000116098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012262] [ENSMUST00000105885] [ENSMUST00000105886] [ENSMUST00000105887] [ENSMUST00000105889] [ENSMUST00000130464] [ENSMUST00000144668]

AlphaFold

Q99KU1

Predicted Effect

probably damaging
Transcript: ENSMUST00000012262
AA Change: I162V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000012262
Gene: ENSMUSG00000012117
AA Change: I162V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105885

SMART Domains

Protein: ENSMUSP00000101509
Gene: ENSMUSG00000012117

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 damaging
Transcript: ENSMUST00000105886
AA Change: I123V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101510
Gene: ENSMUSG00000012117
AA Change: I123V

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 damaging
Transcript: ENSMUST00000105887
AA Change: I162V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101511
Gene: ENSMUSG00000012117
AA Change: I162V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105889
AA Change: I162V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101512
Gene: ENSMUSG00000012117
AA Change: I162V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130464

SMART Domains

Protein: ENSMUSP00000121656
Gene: ENSMUSG00000012117

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: ENSMUST00000142660

Predicted Effect

probably damaging
Transcript: ENSMUST00000144668
AA Change: I162V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116098
Gene: ENSMUSG00000012117
AA Change: I162V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150729

Coding Region Coverage

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 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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	C	9: 21,447,285 (GRCm39)	V149A	possibly damaging	Het
Casc3	T	C	11: 98,714,227 (GRCm39)		probably null	Het
Dsg1a	T	C	18: 20,469,840 (GRCm39)		probably benign	Het
E030025P04Rik	T	A	11: 109,034,714 (GRCm39)	D58V	unknown	Het
Gcn1	A	G	5: 115,749,117 (GRCm39)	N1883S	probably damaging	Het
Gucy1a2	T	C	9: 3,634,661 (GRCm39)	L235P	probably damaging	Het
Jkampl	G	A	6: 73,445,673 (GRCm39)	T292I	probably damaging	Het
Kprp	T	C	3: 92,731,271 (GRCm39)	N593S	probably benign	Het
Mme	T	C	3: 63,269,350 (GRCm39)		probably benign	Het
Nr6a1	G	T	2: 38,617,901 (GRCm39)	Q419K	probably benign	Het
Pcolce	A	G	5: 137,603,422 (GRCm39)		probably benign	Het
Ppp2cb	C	A	8: 34,101,791 (GRCm39)	R110S	probably benign	Het
Slc35f1	A	G	10: 52,965,551 (GRCm39)	Y322C	probably damaging	Het
Slc5a3	T	C	16: 91,874,465 (GRCm39)	V174A	probably damaging	Het
St8sia4	G	T	1: 95,581,482 (GRCm39)	R87S	probably benign	Het
Tfdp2	A	G	9: 96,177,083 (GRCm39)	E5G	probably damaging	Het
Tmem161b	T	C	13: 84,442,881 (GRCm39)	I267T	probably benign	Het
Ttn	A	G	2: 76,782,365 (GRCm39)	L957P	probably damaging	Het
Ttn	A	G	2: 76,612,445 (GRCm39)		probably benign	Het
Ubqln1	A	T	13: 58,327,481 (GRCm39)		probably null	Het
Wdfy3	A	C	5: 102,044,454 (GRCm39)		probably benign	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
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
R5444:Dhdds	UTSW	4	133,698,447 (GRCm39)	nonsense	probably null
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

Posted On

2013-12-09