Incidental Mutation 'IGL02465:Ddrgk1'
ID294547
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddrgk1
Ensembl Gene ENSMUSG00000068290
Gene NameDDRGK domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.151) question?
Stock #IGL02465
Quality Score
Status
Chromosome2
Chromosomal Location130653960-130664659 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 130654709 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:DDRGK 1 54 4.9e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135072
SMART Domains Protein: ENSMUSP00000121190
Gene: ENSMUSG00000068290

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A G 12: 4,200,906 D555G probably benign Het
Anks1b T A 10: 90,163,265 C411* probably null Het
Atp5j A T 16: 84,828,470 Y82N probably damaging Het
Cd19 A T 7: 126,413,558 V221D possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cyp4f13 A T 17: 32,929,136 probably null Het
Eya2 A G 2: 165,715,952 D156G possibly damaging Het
Gm42763 T C 9: 110,545,297 probably benign Het
Gtdc1 T C 2: 44,570,423 Y417C probably damaging Het
Map1b T C 13: 99,433,406 T936A unknown Het
Med23 G A 10: 24,903,743 R906K probably damaging Het
Mill2 G A 7: 18,858,243 W263* probably null Het
Mup20 T C 4: 62,052,000 N107D possibly damaging Het
Neb A G 2: 52,193,165 probably benign Het
Ntrk2 A G 13: 59,060,380 N680S probably damaging Het
Olfr102 A C 17: 37,313,911 S158A probably damaging Het
Olfr459 C T 6: 41,771,556 V248I probably damaging Het
Pde3a A G 6: 141,249,675 H29R possibly damaging Het
Pik3c3 T C 18: 30,344,060 I878T probably damaging Het
Plxnd1 A G 6: 115,955,742 *1926R probably null Het
Prl8a9 T A 13: 27,559,449 L124F probably damaging Het
Proser3 A T 7: 30,543,533 N206K possibly damaging Het
Rasef G T 4: 73,734,488 T439N probably damaging Het
Slc6a18 T C 13: 73,677,785 T49A probably benign Het
Spag17 A C 3: 100,075,871 T1496P probably damaging Het
Vmn1r63 A C 7: 5,803,039 V198G probably damaging Het
Vmn2r112 T C 17: 22,614,994 S548P probably damaging Het
Vps13a T C 19: 16,710,941 D834G probably benign Het
Vps8 A T 16: 21,521,903 N799I probably damaging Het
Zfhx4 A G 3: 5,399,603 H1632R possibly damaging Het
Zp1 T A 19: 10,920,487 E30V probably benign Het
Other mutations in Ddrgk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01643:Ddrgk1 APN 2 130658294 unclassified probably benign
IGL01654:Ddrgk1 APN 2 130654709 missense probably damaging 1.00
IGL01977:Ddrgk1 APN 2 130655246 unclassified probably benign
R1864:Ddrgk1 UTSW 2 130654295 missense probably damaging 1.00
R1865:Ddrgk1 UTSW 2 130654295 missense probably damaging 1.00
R1935:Ddrgk1 UTSW 2 130663560 splice site probably benign
R1940:Ddrgk1 UTSW 2 130663560 splice site probably benign
R2871:Ddrgk1 UTSW 2 130664644 unclassified probably benign
R4787:Ddrgk1 UTSW 2 130658328 missense probably damaging 0.97
R5161:Ddrgk1 UTSW 2 130663376 start codon destroyed probably null
R6140:Ddrgk1 UTSW 2 130658614 missense probably benign 0.20
R6184:Ddrgk1 UTSW 2 130664561 missense possibly damaging 0.95
R6238:Ddrgk1 UTSW 2 130654679 missense possibly damaging 0.89
Posted On2015-04-16