Incidental Mutation 'IGL01654:Ddrgk1'
| ID |
102910 |
| 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 # |
IGL01654
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,854,838 (GRCm39) |
E68V |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,765,065 (GRCm39) |
|
probably null |
Het |
| Abcg2 |
T |
A |
6: 58,660,306 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
T |
C |
17: 43,762,061 (GRCm39) |
I1252T |
possibly damaging |
Het |
| Apol10b |
A |
T |
15: 77,472,996 (GRCm39) |
D19E |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,402,238 (GRCm39) |
|
probably null |
Het |
| Bod1l |
T |
C |
5: 41,975,519 (GRCm39) |
T1932A |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 143,027,133 (GRCm39) |
V124A |
probably benign |
Het |
| Cd151 |
T |
A |
7: 141,050,275 (GRCm39) |
I170N |
probably benign |
Het |
| Ckap5 |
C |
T |
2: 91,407,954 (GRCm39) |
H827Y |
probably benign |
Het |
| Clk3 |
C |
T |
9: 57,659,046 (GRCm39) |
V572M |
probably damaging |
Het |
| Enpp5 |
A |
G |
17: 44,392,066 (GRCm39) |
D165G |
possibly damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Fbxw14 |
T |
C |
9: 109,115,648 (GRCm39) |
|
probably benign |
Het |
| Fes |
C |
T |
7: 80,036,558 (GRCm39) |
|
probably null |
Het |
| Gemin4 |
A |
T |
11: 76,104,224 (GRCm39) |
L179H |
probably damaging |
Het |
| Gm3327 |
A |
G |
14: 44,362,317 (GRCm39) |
E72G |
unknown |
Het |
| Gm4847 |
C |
T |
1: 166,465,917 (GRCm39) |
R224Q |
probably damaging |
Het |
| Lonp2 |
T |
C |
8: 87,440,714 (GRCm39) |
V357A |
probably damaging |
Het |
| Mc2r |
A |
G |
18: 68,541,143 (GRCm39) |
I50T |
probably benign |
Het |
| Mmp19 |
C |
T |
10: 128,634,389 (GRCm39) |
A310V |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,435,853 (GRCm39) |
R890Q |
probably benign |
Het |
| Npdc1 |
T |
C |
2: 25,297,649 (GRCm39) |
S101P |
possibly damaging |
Het |
| Phldb1 |
T |
C |
9: 44,629,654 (GRCm39) |
|
probably null |
Het |
| Pkd2l1 |
T |
C |
19: 44,142,662 (GRCm39) |
N460S |
probably damaging |
Het |
| Pnpo |
A |
G |
11: 96,834,555 (GRCm39) |
|
probably null |
Het |
| Prkcq |
A |
T |
2: 11,288,654 (GRCm39) |
T536S |
probably damaging |
Het |
| Rft1 |
T |
A |
14: 30,398,837 (GRCm39) |
V269E |
probably damaging |
Het |
| Skint4 |
A |
T |
4: 111,977,254 (GRCm39) |
I215F |
probably damaging |
Het |
| Slc12a5 |
G |
A |
2: 164,815,675 (GRCm39) |
D41N |
possibly damaging |
Het |
| Srp68 |
T |
C |
11: 116,138,638 (GRCm39) |
|
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,115,914 (GRCm39) |
T623A |
probably damaging |
Het |
| Zfand2a |
A |
G |
5: 139,467,823 (GRCm39) |
|
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,783,796 (GRCm39) |
Y917C |
probably damaging |
Het |
| Zmym6 |
C |
T |
4: 127,017,519 (GRCm39) |
S1008L |
probably damaging |
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 |
|
|
IGL01977:Ddrgk1
|
APN |
2 |
130,497,166 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02465:Ddrgk1
|
APN |
2 |
130,496,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-01-21 |
Incidental Mutation