Incidental Mutation 'IGL01898:Nus1'
| ID |
179460 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nus1
|
| Ensembl Gene |
ENSMUSG00000023068 |
| Gene Name |
NUS1 dehydrodolichyl diphosphate synthase subunit |
| Synonyms |
NgBR, D10Ertd438e, 1600027K07Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01898
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
52293643-52316279 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52306163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 185
(D185G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023830]
|
| AlphaFold |
Q99LJ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023830
AA Change: D185G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023830
Gene: ENSMUSG00000023068
AA Change: D185G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
88 |
N/A |
INTRINSIC |
|
Pfam:Prenyltransf
|
105 |
296 |
2.7e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161678
AA Change: D33G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124767
Gene: ENSMUSG00000023068
AA Change: D33G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1f75a_
|
1 |
91 |
1e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218983
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele die prior to E6.5. MEFs homozygous for a conditionally activated knock-out allele exhibit impaired glycosylation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl10 |
A |
T |
2: 154,394,633 (GRCm39) |
D195V |
probably damaging |
Het |
| Aqp11 |
A |
G |
7: 97,375,870 (GRCm39) |
W260R |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,260,962 (GRCm39) |
T390A |
probably damaging |
Het |
| Atp8b4 |
T |
C |
2: 126,231,281 (GRCm39) |
N431S |
probably benign |
Het |
| Ccdc110 |
T |
G |
8: 46,395,161 (GRCm39) |
S351A |
possibly damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,582,939 (GRCm39) |
F1006L |
possibly damaging |
Het |
| Ddr2 |
A |
G |
1: 169,825,725 (GRCm39) |
F292L |
possibly damaging |
Het |
| F830104G03Rik |
G |
A |
3: 56,797,637 (GRCm39) |
Q97* |
probably null |
Het |
| Fam171a2 |
T |
C |
11: 102,330,582 (GRCm39) |
T267A |
possibly damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Igkv5-43 |
T |
A |
6: 69,752,876 (GRCm39) |
K69* |
probably null |
Het |
| Mios |
T |
C |
6: 8,222,668 (GRCm39) |
I534T |
probably benign |
Het |
| Proc |
A |
G |
18: 32,266,198 (GRCm39) |
|
probably null |
Het |
| Psma3 |
T |
A |
12: 71,031,448 (GRCm39) |
H36Q |
probably benign |
Het |
| Sh3rf3 |
G |
T |
10: 58,885,352 (GRCm39) |
A412S |
probably damaging |
Het |
| Smgc |
A |
T |
15: 91,728,727 (GRCm39) |
|
probably null |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,041,428 (GRCm39) |
S1297R |
probably benign |
Het |
| Steap3 |
T |
C |
1: 120,169,304 (GRCm39) |
D293G |
probably benign |
Het |
| Tbx18 |
A |
T |
9: 87,589,912 (GRCm39) |
M342K |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,851,935 (GRCm39) |
M425V |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Nus1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01983:Nus1
|
APN |
10 |
52,312,753 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02195:Nus1
|
APN |
10 |
52,309,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0173:Nus1
|
UTSW |
10 |
52,294,094 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0455:Nus1
|
UTSW |
10 |
52,306,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5377:Nus1
|
UTSW |
10 |
52,305,309 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5792:Nus1
|
UTSW |
10 |
52,305,352 (GRCm39) |
nonsense |
probably null |
|
|
R6009:Nus1
|
UTSW |
10 |
52,309,539 (GRCm39) |
missense |
probably benign |
|
|
R8147:Nus1
|
UTSW |
10 |
52,305,416 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9100:Nus1
|
UTSW |
10 |
52,305,287 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9477:Nus1
|
UTSW |
10 |
52,294,001 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9654:Nus1
|
UTSW |
10 |
52,294,130 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Posted On |
2014-05-07 |
Incidental Mutation