Incidental Mutation 'IGL02465:Ddrgk1'
| ID |
294547 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ddrgk1
|
| Ensembl Gene |
ENSMUSG00000068290 |
| Gene Name |
DDRGK domain containing 1 |
| Synonyms |
2600009E05Rik, 1110001I20Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02465
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
130495955-130506549 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130496629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 245
(D245G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089559]
[ENSMUST00000135072]
|
| AlphaFold |
Q80WW9 |
| PDB Structure |
Solution structure of the PCI domain from mouse hypothetical protein AAH51541 [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089559
AA Change: D245G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086988
Gene: ENSMUSG00000068290
AA Change: D245G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
85 |
N/A |
INTRINSIC |
|
DDRGK
|
116 |
304 |
8.35e-113 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124559
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134044
|
| SMART Domains |
Protein: ENSMUSP00000114535
Gene: ENSMUSG00000068290
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DDRGK
|
1 |
54 |
4.9e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135072
|
| SMART Domains |
Protein: ENSMUSP00000121190
Gene: ENSMUSG00000068290
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
19 |
N/A |
INTRINSIC |
|
coiled coil region
|
20 |
52 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153271
|
| Coding Region Coverage |
|
| 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 interacts with components of the ubiquitin fold modifier 1 conjugation pathway and helps prevent apoptosis in ER-stressed secretory tissues. In addition, the encoded protein regulates nuclear factor-κB activity. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality by E13.5 with impaired embryonic erythropoiesis. Embryos show delayed limb bud condrogenic condensation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy3 |
A |
G |
12: 4,250,906 (GRCm39) |
D555G |
probably benign |
Het |
| Anks1b |
T |
A |
10: 89,999,127 (GRCm39) |
C411* |
probably null |
Het |
| Atp5pf |
A |
T |
16: 84,625,358 (GRCm39) |
Y82N |
probably damaging |
Het |
| Cd19 |
A |
T |
7: 126,012,730 (GRCm39) |
V221D |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cyp4f13 |
A |
T |
17: 33,148,110 (GRCm39) |
|
probably null |
Het |
| Eya2 |
A |
G |
2: 165,557,872 (GRCm39) |
D156G |
possibly damaging |
Het |
| Gm42763 |
T |
C |
9: 110,374,365 (GRCm39) |
|
probably benign |
Het |
| Gtdc1 |
T |
C |
2: 44,460,435 (GRCm39) |
Y417C |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,569,914 (GRCm39) |
T936A |
unknown |
Het |
| Med23 |
G |
A |
10: 24,779,641 (GRCm39) |
R906K |
probably damaging |
Het |
| Mill2 |
G |
A |
7: 18,592,168 (GRCm39) |
W263* |
probably null |
Het |
| Mup20 |
T |
C |
4: 61,970,237 (GRCm39) |
N107D |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,083,177 (GRCm39) |
|
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,208,194 (GRCm39) |
N680S |
probably damaging |
Het |
| Or12d2 |
A |
C |
17: 37,624,802 (GRCm39) |
S158A |
probably damaging |
Het |
| Or9a2 |
C |
T |
6: 41,748,490 (GRCm39) |
V248I |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,195,401 (GRCm39) |
H29R |
possibly damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,477,113 (GRCm39) |
I878T |
probably damaging |
Het |
| Plxnd1 |
A |
G |
6: 115,932,703 (GRCm39) |
*1926R |
probably null |
Het |
| Prl8a9 |
T |
A |
13: 27,743,432 (GRCm39) |
L124F |
probably damaging |
Het |
| Proser3 |
A |
T |
7: 30,242,958 (GRCm39) |
N206K |
possibly damaging |
Het |
| Rasef |
G |
T |
4: 73,652,725 (GRCm39) |
T439N |
probably damaging |
Het |
| Slc6a18 |
T |
C |
13: 73,825,904 (GRCm39) |
T49A |
probably benign |
Het |
| Spag17 |
A |
C |
3: 99,983,187 (GRCm39) |
T1496P |
probably damaging |
Het |
| Vmn1r63 |
A |
C |
7: 5,806,038 (GRCm39) |
V198G |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,833,975 (GRCm39) |
S548P |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,688,305 (GRCm39) |
D834G |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,340,653 (GRCm39) |
N799I |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,663 (GRCm39) |
H1632R |
possibly damaging |
Het |
| Zp1 |
T |
A |
19: 10,897,851 (GRCm39) |
E30V |
probably benign |
Het |
|
| Other mutations in Ddrgk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01643:Ddrgk1
|
APN |
2 |
130,500,214 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01654:Ddrgk1
|
APN |
2 |
130,496,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01977:Ddrgk1
|
APN |
2 |
130,497,166 (GRCm39) |
unclassified |
probably benign |
|
|
R1864:Ddrgk1
|
UTSW |
2 |
130,496,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Ddrgk1
|
UTSW |
2 |
130,496,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1935:Ddrgk1
|
UTSW |
2 |
130,505,480 (GRCm39) |
splice site |
probably benign |
|
|
R1940:Ddrgk1
|
UTSW |
2 |
130,505,480 (GRCm39) |
splice site |
probably benign |
|
|
R2871:Ddrgk1
|
UTSW |
2 |
130,506,564 (GRCm39) |
unclassified |
probably benign |
|
|
R4787:Ddrgk1
|
UTSW |
2 |
130,500,248 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5161:Ddrgk1
|
UTSW |
2 |
130,505,296 (GRCm39) |
start codon destroyed |
probably null |
|
|
R6140:Ddrgk1
|
UTSW |
2 |
130,500,534 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6184:Ddrgk1
|
UTSW |
2 |
130,506,481 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6238:Ddrgk1
|
UTSW |
2 |
130,496,599 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8438:Ddrgk1
|
UTSW |
2 |
130,505,302 (GRCm39) |
start gained |
probably benign |
|
|
R9155:Ddrgk1
|
UTSW |
2 |
130,500,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation