Incidental Mutation 'R5284:Dhdds'
| ID |
402931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhdds
|
| Ensembl Gene |
ENSMUSG00000012117 |
| Gene Name |
dehydrodolichyl diphosphate synthase |
| Synonyms |
3222401G21Rik |
| MMRRC Submission |
042841-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5284 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
133696339-133728229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133707523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 187
(V187A)
|
| 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 benign
Transcript: ENSMUST00000012262
AA Change: V226A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000012262
Gene: ENSMUSG00000012117
AA Change: V226A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltransf
|
32 |
256 |
1.5e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105885
AA Change: V192A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000101509
Gene: ENSMUSG00000012117
AA Change: V192A
| 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 benign
Transcript: ENSMUST00000105886
AA Change: V187A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000101510
Gene: ENSMUSG00000012117
AA Change: V187A
| 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 benign
Transcript: ENSMUST00000105887
AA Change: V226A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000101511
Gene: ENSMUSG00000012117
AA Change: V226A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltransf
|
32 |
255 |
6.4e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105889
AA Change: V226A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000101512
Gene: ENSMUSG00000012117
AA Change: V226A
| 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: ENSMUST00000134096
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150729
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142660
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144668
AA Change: V226A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000116098
Gene: ENSMUSG00000012117
AA Change: V226A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltransf
|
32 |
256 |
1.5e-84 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146241
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
A |
7: 45,630,483 (GRCm39) |
Q1259L |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,327,052 (GRCm39) |
S522P |
probably damaging |
Het |
| Asic5 |
C |
T |
3: 81,915,830 (GRCm39) |
P218L |
probably damaging |
Het |
| Atad1 |
T |
C |
19: 32,664,671 (GRCm39) |
M248V |
probably benign |
Het |
| Bank1 |
T |
C |
3: 135,769,915 (GRCm39) |
D522G |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,977,810 (GRCm39) |
S1168L |
probably benign |
Het |
| Cactin |
A |
G |
10: 81,159,596 (GRCm39) |
D51G |
probably damaging |
Het |
| Camkk1 |
A |
G |
11: 72,928,381 (GRCm39) |
D261G |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,421,941 (GRCm39) |
S930P |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Crim1 |
A |
T |
17: 78,620,695 (GRCm39) |
R378S |
possibly damaging |
Het |
| Dcun1d4 |
T |
C |
5: 73,680,025 (GRCm39) |
|
probably null |
Het |
| Ecpas |
C |
T |
4: 58,836,172 (GRCm39) |
E723K |
possibly damaging |
Het |
| Egfem1 |
A |
G |
3: 29,704,936 (GRCm39) |
E251G |
possibly damaging |
Het |
| Ehhadh |
T |
C |
16: 21,582,094 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
G |
5: 110,815,990 (GRCm39) |
V2724A |
probably damaging |
Het |
| Epb41l4a |
T |
A |
18: 33,931,853 (GRCm39) |
T581S |
probably damaging |
Het |
| Erg |
C |
T |
16: 95,260,102 (GRCm39) |
M1I |
probably null |
Het |
| Fastkd1 |
T |
C |
2: 69,542,532 (GRCm39) |
T92A |
probably benign |
Het |
| Gabpb1 |
T |
C |
2: 126,494,277 (GRCm39) |
H116R |
possibly damaging |
Het |
| Gucy2c |
A |
G |
6: 136,740,041 (GRCm39) |
L262P |
possibly damaging |
Het |
| Ifi203 |
C |
T |
1: 173,756,274 (GRCm39) |
|
probably benign |
Het |
| Kcnk13 |
A |
C |
12: 100,027,548 (GRCm39) |
I208L |
probably benign |
Het |
| Klhl7 |
A |
G |
5: 24,364,615 (GRCm39) |
T550A |
probably benign |
Het |
| Krtap12-1 |
G |
T |
10: 77,556,799 (GRCm39) |
C114F |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,474,234 (GRCm39) |
T1650A |
probably benign |
Het |
| Myo19 |
T |
A |
11: 84,776,098 (GRCm39) |
|
probably null |
Het |
| Nav1 |
C |
T |
1: 135,377,701 (GRCm39) |
W1656* |
probably null |
Het |
| Nup188 |
A |
T |
2: 30,220,647 (GRCm39) |
S907C |
probably damaging |
Het |
| Oplah |
A |
T |
15: 76,190,759 (GRCm39) |
H125Q |
probably benign |
Het |
| Or6d12 |
T |
A |
6: 116,493,513 (GRCm39) |
Y258* |
probably null |
Het |
| Pcnx1 |
A |
T |
12: 81,965,803 (GRCm39) |
T657S |
probably benign |
Het |
| Phf14 |
C |
A |
6: 11,997,119 (GRCm39) |
Q796K |
probably damaging |
Het |
| Plaa |
T |
C |
4: 94,457,874 (GRCm39) |
I699V |
probably benign |
Het |
| Prex2 |
C |
A |
1: 11,336,314 (GRCm39) |
S1504* |
probably null |
Het |
| Prpf18 |
G |
A |
2: 4,650,481 (GRCm39) |
Q50* |
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,349,692 (GRCm39) |
Y3851C |
possibly damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,386,733 (GRCm39) |
D726G |
probably damaging |
Het |
| Sacm1l |
T |
C |
9: 123,415,485 (GRCm39) |
S487P |
probably damaging |
Het |
| Setdb1 |
G |
T |
3: 95,234,881 (GRCm39) |
R941S |
probably damaging |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Smg8 |
G |
A |
11: 86,971,137 (GRCm39) |
S878L |
possibly damaging |
Het |
| Trpc4 |
T |
A |
3: 54,187,368 (GRCm39) |
V440E |
probably damaging |
Het |
| Tsen15 |
A |
G |
1: 152,247,624 (GRCm39) |
S123P |
probably damaging |
Het |
| Tspan12 |
G |
T |
6: 21,835,466 (GRCm39) |
A69D |
probably damaging |
Het |
| Ubiad1 |
G |
A |
4: 148,520,955 (GRCm39) |
T223M |
probably damaging |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,741 (GRCm39) |
K90* |
probably null |
Het |
| Wdr19 |
C |
T |
5: 65,382,752 (GRCm39) |
T492I |
probably damaging |
Het |
| Zfp423 |
C |
T |
8: 88,508,305 (GRCm39) |
D659N |
possibly 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 |
|
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'- ATCTCTGCACAGAAACTCGC -3'
(R):5'- GACCCTTCTTCCAAGAGTGAG -3'
Sequencing Primer
(F):5'- CCGACTCATACCTGAAGT -3'
(R):5'- CTTCTTCCAAGAGTGAGGGGAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation