Mutagenetix > Incidental Mutation

Incidental Mutation 'R2036:Dhdds'

224610

Institutional Source

Beutler Lab

Gene Symbol

Dhdds

Ensembl Gene

ENSMUSG00000012117

Gene Name

dehydrodolichyl diphosphate synthase

Synonyms

3222401G21Rik

MMRRC Submission

040043-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2036 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133696339-133728229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133698410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 142 (E142G)

Ref Sequence

ENSEMBL: ENSMUSP00000121656 (fasta)

Gene Model

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

AlphaFold

Q99KU1

Predicted Effect

probably damaging
Transcript: ENSMUST00000012262
AA Change: E307G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000012262
Gene: ENSMUSG00000012117
AA Change: E307G

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 damaging
Transcript: ENSMUST00000105885
AA Change: E273G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101509
Gene: ENSMUSG00000012117
AA Change: E273G

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: E268G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101510
Gene: ENSMUSG00000012117
AA Change: E268G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105887
AA Change: E308G

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101511
Gene: ENSMUSG00000012117
AA Change: E308G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000130464
AA Change: E142G

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

SMART Domains

Protein: ENSMUSP00000121656
Gene: ENSMUSG00000012117
AA Change: E142G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000144668
AA Change: E307G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116098
Gene: ENSMUSG00000012117
AA Change: E307G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145025

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134096

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: 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: 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

0.1024

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415H17Rik	C	T	11: 99,576,358 (GRCm39)	C3Y	unknown	Het
Abr	G	T	11: 76,343,176 (GRCm39)	T547K	probably benign	Het
Akr1c21	T	C	13: 4,626,305 (GRCm39)	Y110H	probably damaging	Het
Ankar	T	A	1: 72,705,689 (GRCm39)	K556*	probably null	Het
Anks1b	T	C	10: 90,805,715 (GRCm39)	V431A	probably damaging	Het
Ap5b1	T	C	19: 5,618,897 (GRCm39)	S106P	possibly damaging	Het
Arhgap17	T	C	7: 122,917,717 (GRCm39)	N156D	possibly damaging	Het
Arhgap35	T	C	7: 16,297,058 (GRCm39)	E669G	probably damaging	Het
Arhgap44	T	C	11: 64,932,318 (GRCm39)	M201V	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atg4c	C	T	4: 99,106,376 (GRCm39)	T112M	possibly damaging	Het
Bcl11a	A	T	11: 24,114,087 (GRCm39)	N477Y	possibly damaging	Het
Brinp3	A	T	1: 146,577,579 (GRCm39)	I205F	possibly damaging	Het
Capza2	T	C	6: 17,660,777 (GRCm39)	F159S	probably damaging	Het
Cd40	T	C	2: 164,904,221 (GRCm39)	C61R	probably benign	Het
Cdc25c	G	C	18: 34,871,292 (GRCm39)	L275V	probably damaging	Het
Cdh23	A	G	10: 60,301,822 (GRCm39)	I415T	possibly damaging	Het
Clnk	A	T	5: 38,910,143 (GRCm39)		probably null	Het
Ctcfl	C	T	2: 172,943,778 (GRCm39)	R524Q	possibly damaging	Het
Cyb5r4	T	G	9: 86,924,932 (GRCm39)		probably benign	Het
Ddb1	T	A	19: 10,588,186 (GRCm39)		probably benign	Het
Ddx51	C	A	5: 110,804,491 (GRCm39)	Q526K	probably benign	Het
Dennd6a	A	T	14: 26,329,274 (GRCm39)	Q56L	probably damaging	Het
Dnai1	A	G	4: 41,632,225 (GRCm39)	H553R	probably damaging	Het
Fryl	T	C	5: 73,179,887 (GRCm39)	N2908S	probably benign	Het
Fryl	C	A	5: 73,265,305 (GRCm39)		probably null	Het
Fut9	A	G	4: 25,620,322 (GRCm39)	I164T	probably damaging	Het
Gba2	G	A	4: 43,568,118 (GRCm39)		probably benign	Het
Gm11627	C	T	11: 102,467,580 (GRCm39)	V33I	unknown	Het
Helz2	T	A	2: 180,879,272 (GRCm39)	H782L	probably benign	Het
Kcnmb3	A	G	3: 32,526,531 (GRCm39)	V220A	probably damaging	Het
Kif20a	T	C	18: 34,761,515 (GRCm39)	S303P	possibly damaging	Het
Kif22	A	T	7: 126,630,126 (GRCm39)	V470E	possibly damaging	Het
Majin	C	T	19: 6,263,342 (GRCm39)	T132M	probably benign	Het
Mboat7	A	G	7: 3,688,671 (GRCm39)		probably null	Het
Mkrn2	C	A	6: 115,588,875 (GRCm39)	P206Q	probably benign	Het
Mphosph9	G	A	5: 124,442,274 (GRCm39)	T358M	probably damaging	Het
Nkd1	A	G	8: 89,318,305 (GRCm39)	D210G	probably damaging	Het
Or4c110	C	T	2: 88,831,976 (GRCm39)	V219I	probably damaging	Het
Or4k41	T	A	2: 111,279,971 (GRCm39)	L162Q	possibly damaging	Het
Or5ae2	G	T	7: 84,505,566 (GRCm39)		probably benign	Het
Or5b95	G	C	19: 12,658,165 (GRCm39)	G231A	probably damaging	Het
Or5p69	T	A	7: 107,966,947 (GRCm39)	N83K	probably benign	Het
Or6c35	G	A	10: 129,169,541 (GRCm39)	D264N	probably benign	Het
Or9s15	A	T	1: 92,524,328 (GRCm39)	E29V	probably benign	Het
Pi4ka	A	G	16: 17,120,976 (GRCm39)	Y63H	probably damaging	Het
Plekha1	A	G	7: 130,503,922 (GRCm39)	R210G	probably damaging	Het
Ppp2r2c	C	T	5: 37,109,748 (GRCm39)	T369I	possibly damaging	Het
Relch	A	G	1: 105,670,979 (GRCm39)	D1029G	probably damaging	Het
Rmnd1	T	C	10: 4,357,884 (GRCm39)	D12G	probably damaging	Het
Rtn2	A	G	7: 19,027,664 (GRCm39)	K120E	probably damaging	Het
Sh3tc1	A	G	5: 35,873,508 (GRCm39)	S30P	probably benign	Het
Tln2	T	C	9: 67,179,986 (GRCm39)	E795G	possibly damaging	Het
Tmprss11d	T	A	5: 86,457,128 (GRCm39)	Y177F	probably damaging	Het
Trrap	C	A	5: 144,765,372 (GRCm39)	D2529E	probably benign	Het
Vmn2r58	A	G	7: 41,513,417 (GRCm39)	Y409H	probably benign	Het
Wdr72	T	A	9: 74,058,876 (GRCm39)	V323D	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
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'- CCTTTGGGTTCCCTGCAAAAC -3'
(R):5'- ACCCTACTTTTCTCTAGCAGAAGG -3'

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

Posted On

2014-08-25