Mutagenetix > Incidental Mutation

Incidental Mutation 'R6723:Dhdds'

529680

Institutional Source

Beutler Lab

Gene Symbol

Dhdds

Ensembl Gene

ENSMUSG00000012117

Gene Name

dehydrodolichyl diphosphate synthase

Synonyms

3222401G21Rik

MMRRC Submission

044841-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6723 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133696339-133728229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133721576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 74 (T74A)

Ref Sequence

ENSEMBL: ENSMUSP00000101510 (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: T74A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000012262
Gene: ENSMUSG00000012117
AA Change: T74A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105885
AA Change: T74A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101509
Gene: ENSMUSG00000012117
AA Change: T74A

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: T74A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101510
Gene: ENSMUSG00000012117
AA Change: T74A

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: T74A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101511
Gene: ENSMUSG00000012117
AA Change: T74A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105889
AA Change: T74A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101512
Gene: ENSMUSG00000012117
AA Change: T74A

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: T74A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116098
Gene: ENSMUSG00000012117
AA Change: T74A

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

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	A	G	12: 112,745,228 (GRCm39)	S740P	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Bcl11a	C	A	11: 24,113,646 (GRCm39)	P330T	probably damaging	Het
Cyp2d12	A	T	15: 82,441,085 (GRCm39)	I124F	probably benign	Het
Dio3	G	A	12: 110,245,991 (GRCm39)	C109Y	possibly damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock7	A	G	4: 98,892,153 (GRCm39)	V811A	possibly damaging	Het
Efcab3	A	T	11: 105,007,906 (GRCm39)	T329S	possibly damaging	Het
Esp1	A	T	17: 41,039,747 (GRCm39)	I11L	probably benign	Het
Fam13b	A	T	18: 34,631,079 (GRCm39)	H33Q	possibly damaging	Het
Fam13c	G	A	10: 70,390,355 (GRCm39)	D539N	probably damaging	Het
Fgd5	A	G	6: 91,965,011 (GRCm39)	T257A	probably benign	Het
Gm5134	A	G	10: 75,844,453 (GRCm39)	D603G	probably benign	Het
Gtpbp2	T	C	17: 46,479,202 (GRCm39)	V588A	probably benign	Het
Ift140	A	G	17: 25,252,090 (GRCm39)	I312M	probably benign	Het
Inpp5j	T	C	11: 3,450,640 (GRCm39)	N571S	probably damaging	Het
Iqgap1	T	G	7: 80,373,570 (GRCm39)	D1473A	probably benign	Het
Ivl	T	G	3: 92,478,694 (GRCm39)	K457T	unknown	Het
Kdm3b	T	C	18: 34,926,058 (GRCm39)	I66T	probably damaging	Het
Kif21a	A	T	15: 90,824,649 (GRCm39)	M1430K	probably damaging	Het
Klhl25	T	A	7: 75,515,739 (GRCm39)	L215Q	possibly damaging	Het
Lim2	T	A	7: 43,085,099 (GRCm39)	M163K	probably benign	Het
Lrig1	T	C	6: 94,603,386 (GRCm39)	D254G	probably damaging	Het
Mff	A	G	1: 82,729,387 (GRCm39)	I122V	possibly damaging	Het
Mrpl15	A	C	1: 4,852,789 (GRCm39)		probably null	Het
Mylk	A	G	16: 34,750,258 (GRCm39)	Y1199C	possibly damaging	Het
Nlrp3	G	A	11: 59,456,018 (GRCm39)	C938Y	probably damaging	Het
Notch1	T	C	2: 26,368,118 (GRCm39)	N623D	probably damaging	Het
Obscn	T	G	11: 58,945,824 (GRCm39)	E4129A	probably damaging	Het
Or10a49	A	T	7: 108,467,795 (GRCm39)	C189S	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Or4d11	A	G	19: 12,013,639 (GRCm39)	S156P	probably damaging	Het
Or5k1	T	C	16: 58,617,795 (GRCm39)	K138R	probably benign	Het
Or6c65	A	T	10: 129,604,284 (GRCm39)	L306F	probably benign	Het
Parm1	C	T	5: 91,770,856 (GRCm39)	P291S	probably damaging	Het
Pcsk1	T	A	13: 75,241,188 (GRCm39)		probably null	Het
Pgap6	C	A	17: 26,339,610 (GRCm39)	T616N	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Piezo1	T	G	8: 123,234,366 (GRCm39)	Q93H	probably benign	Het
Pkd2l2	A	T	18: 34,571,210 (GRCm39)	Y575F	probably damaging	Het
Plekhn1	A	C	4: 156,309,026 (GRCm39)	F258C	probably damaging	Het
Pole	C	T	5: 110,471,482 (GRCm39)	H1409Y	probably benign	Het
Rae1	T	C	2: 172,854,041 (GRCm39)	I273T	probably damaging	Het
Rag1	A	G	2: 101,473,990 (GRCm39)	V384A	probably damaging	Het
Rnaseh1	T	C	12: 28,699,761 (GRCm39)	L25P	probably damaging	Het
Serpinb12	A	G	1: 106,876,888 (GRCm39)	H68R	probably benign	Het
Sh3tc2	A	T	18: 62,111,025 (GRCm39)	I294F	probably damaging	Het
Sirpb1b	A	C	3: 15,613,858 (GRCm39)	L75V	possibly damaging	Het
Slc12a6	A	T	2: 112,168,287 (GRCm39)	T277S	probably damaging	Het
Slc7a12	A	T	3: 14,564,257 (GRCm39)	E43D	probably benign	Het
Spata31d1c	T	A	13: 65,183,758 (GRCm39)	D433E	probably benign	Het
Spata31h1	T	C	10: 82,125,657 (GRCm39)	Y2451C	possibly damaging	Het
Tbl2	A	T	5: 135,188,130 (GRCm39)	Y308F	probably damaging	Het
Tfec	T	C	6: 16,835,301 (GRCm39)	Y159C	probably damaging	Het
Top1mt	G	T	15: 75,539,282 (GRCm39)	T371K	probably benign	Het
Trim24	T	C	6: 37,928,403 (GRCm39)	V541A	probably benign	Het
Ttc16	T	C	2: 32,658,049 (GRCm39)	Y456C	possibly damaging	Het
Ttn	G	A	2: 76,600,441 (GRCm39)	R17204*	probably null	Het
Ugt1a6b	T	C	1: 88,035,439 (GRCm39)	V259A	probably benign	Het
Unc5a	T	C	13: 55,143,702 (GRCm39)	W129R	probably benign	Het
Vmn1r63	T	A	7: 5,805,948 (GRCm39)	H228L	probably damaging	Het
Whamm	G	T	7: 81,245,868 (GRCm39)	V775F	probably damaging	Het
Zfc3h1	T	A	10: 115,256,638 (GRCm39)	I1536N	probably benign	Het
Zfp1	T	C	8: 112,396,971 (GRCm39)	S317P	probably damaging	Het
Zfp58	T	C	13: 67,642,192 (GRCm39)	T52A	probably damaging	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
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
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'- TAACCTTGGACACCAGCCTC -3'
(R):5'- AGTTGGCCCATTATGCGAACAG -3'

Sequencing Primer
(F):5'- CACCAGCCTCCTTGGTAAG -3'
(R):5'- CAGAAGTGCTAAAGTTGCCCTTGC -3'

Posted On

2018-08-01