Mutagenetix > Incidental Mutation

Incidental Mutation 'R0622:Dhdds'

58720

Institutional Source

Beutler Lab

Gene Symbol

Dhdds

Ensembl Gene

ENSMUSG00000012117

Gene Name

dehydrodolichyl diphosphate synthase

Synonyms

3222401G21Rik

MMRRC Submission

038811-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0622 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

133696339-133728229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 133721547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 83 (F83L)

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: F83L

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

SMART Domains

Protein: ENSMUSP00000012262
Gene: ENSMUSG00000012117
AA Change: F83L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105885
AA Change: F83L

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

SMART Domains

Protein: ENSMUSP00000101509
Gene: ENSMUSG00000012117
AA Change: F83L

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: F83L

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

SMART Domains

Protein: ENSMUSP00000101510
Gene: ENSMUSG00000012117
AA Change: F83L

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: F83L

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

SMART Domains

Protein: ENSMUSP00000101511
Gene: ENSMUSG00000012117
AA Change: F83L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105889
AA Change: F83L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101512
Gene: ENSMUSG00000012117
AA Change: F83L

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: F83L

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

SMART Domains

Protein: ENSMUSP00000116098
Gene: ENSMUSG00000012117
AA Change: F83L

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: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	T	A	13: 30,565,664 (GRCm39)	M243K	probably benign	Het
Ap1b1	A	G	11: 4,987,707 (GRCm39)	M744V	probably damaging	Het
Ccdc152	T	C	15: 3,327,660 (GRCm39)	N39S	probably damaging	Het
Cd163	G	A	6: 124,294,311 (GRCm39)	V490M	probably damaging	Het
Col6a5	G	T	9: 105,803,051 (GRCm39)	H1305N	unknown	Het
Cpb1	C	A	3: 20,303,982 (GRCm39)	D361Y	probably damaging	Het
Dchs1	T	A	7: 105,412,656 (GRCm39)	Y1248F	probably damaging	Het
Dsg4	T	A	18: 20,582,845 (GRCm39)	V161E	possibly damaging	Het
Exosc4	A	G	15: 76,211,736 (GRCm39)	D15G	probably damaging	Het
F3	A	T	3: 121,518,668 (GRCm39)	D44V	probably damaging	Het
Fat2	A	T	11: 55,173,954 (GRCm39)	F2253Y	probably damaging	Het
Fbn1	T	C	2: 125,220,944 (GRCm39)	D650G	possibly damaging	Het
Gramd4	T	A	15: 85,975,590 (GRCm39)	F36I	probably damaging	Het
Grm7	G	A	6: 111,335,457 (GRCm39)	A623T	probably damaging	Het
Gys1	A	T	7: 45,089,419 (GRCm39)	T193S	probably damaging	Het
Hectd4	A	G	5: 121,486,688 (GRCm39)	T3228A	possibly damaging	Het
Itpk1	G	T	12: 102,540,239 (GRCm39)	D281E	probably damaging	Het
Kcnh7	A	C	2: 62,667,633 (GRCm39)		probably null	Het
Klhl29	A	G	12: 5,131,224 (GRCm39)	L852P	probably damaging	Het
Lrch1	T	C	14: 75,033,491 (GRCm39)	Y509C	probably benign	Het
Lrp1b	A	G	2: 41,618,563 (GRCm39)		probably null	Het
Mcpt4	C	A	14: 56,298,119 (GRCm39)	R144L	probably benign	Het
Mia2	C	T	12: 59,178,364 (GRCm39)	R12W	probably damaging	Het
Mrps5	A	G	2: 127,436,451 (GRCm39)	K116R	probably benign	Het
Myrf	G	A	19: 10,200,816 (GRCm39)	P286S	probably damaging	Het
Nanp	A	G	2: 150,881,164 (GRCm39)	M28T	probably benign	Het
Neb	T	C	2: 52,102,963 (GRCm39)	I4472V	probably benign	Het
Nfix	A	C	8: 85,453,111 (GRCm39)	N314K	probably damaging	Het
Nlrc3	C	T	16: 3,771,832 (GRCm39)	R849Q	probably benign	Het
Nup210l	G	A	3: 90,075,047 (GRCm39)	V786M	probably damaging	Het
Or2t44	T	C	11: 58,677,167 (GRCm39)	S36P	probably damaging	Het
Or52ad1	A	G	7: 102,996,064 (GRCm39)	S24P	probably damaging	Het
Or6z5	T	C	7: 6,477,598 (GRCm39)	I163T	possibly damaging	Het
Or8c20	A	G	9: 38,260,667 (GRCm39)	N96S	possibly damaging	Het
Pdia4	A	T	6: 47,783,452 (GRCm39)	F197Y	probably damaging	Het
Phldb1	T	C	9: 44,627,149 (GRCm39)	D432G	probably damaging	Het
Pik3ca	A	G	3: 32,490,701 (GRCm39)	E116G	probably damaging	Het
Polq	T	C	16: 36,881,355 (GRCm39)	V1173A	probably benign	Het
Pou2f3	C	T	9: 43,036,414 (GRCm39)	R423H	probably damaging	Het
Pramel29	T	C	4: 143,939,583 (GRCm39)		probably benign	Het
Prkag2	T	C	5: 25,074,247 (GRCm39)	N246S	probably damaging	Het
Proser1	A	G	3: 53,385,281 (GRCm39)	S388G	probably benign	Het
Ralgps1	G	A	2: 33,064,459 (GRCm39)	R238*	probably null	Het
Rfx2	T	C	17: 57,084,071 (GRCm39)	D657G	probably damaging	Het
Ryr3	A	G	2: 112,492,900 (GRCm39)	F3724S	probably damaging	Het
Sh2d5	T	C	4: 137,986,539 (GRCm39)	S421P	probably damaging	Het
Slc34a1	C	A	13: 23,996,594 (GRCm39)	T33K	probably damaging	Het
St8sia5	A	G	18: 77,333,809 (GRCm39)	T156A	probably damaging	Het
Stk32c	T	C	7: 138,768,026 (GRCm39)	D85G	probably benign	Het
Tnks	A	G	8: 35,407,976 (GRCm39)	S251P	probably damaging	Het
Tnxb	T	A	17: 34,937,703 (GRCm39)	L3864Q	probably damaging	Het
Trim9	A	G	12: 70,393,378 (GRCm39)	Y189H	probably damaging	Het
Vmn1r77	T	G	7: 11,775,315 (GRCm39)	F30L	probably benign	Het
Wasf3	A	G	5: 146,403,602 (GRCm39)		probably null	Het
Wdr90	C	T	17: 26,074,632 (GRCm39)	C603Y	probably damaging	Het
Zdhhc25	T	C	15: 88,485,310 (GRCm39)	L215P	probably damaging	Het
Zeb1	C	T	18: 5,759,123 (GRCm39)	Q140*	probably null	Het
Zfp677	C	T	17: 21,617,962 (GRCm39)	L340F	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGAACGCTCATGCTACGACAC -3'
(R):5'- GCGAACAGAAGTGCTAAAGTTGCCC -3'

Sequencing Primer
(F):5'- cctggaggagcgaggac -3'
(R):5'- GCTAAAGTTGCCCTTGCTTTAC -3'

Posted On

2013-07-11