Incidental Mutation 'IGL01654:Ddrgk1'
ID102910
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? Essential (E-score: 1.000) question?
Stock #IGL01654
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,953,340 E68V probably damaging Het
Abcb1a T C 5: 8,715,065 probably null Het
Abcg2 T A 6: 58,683,321 probably null Het
Adgrf5 T C 17: 43,451,170 I1252T possibly damaging Het
Apol10b A T 15: 77,588,796 D19E probably benign Het
Bbs9 T A 9: 22,490,942 probably null Het
Bod1l T C 5: 41,818,176 T1932A probably damaging Het
C2cd5 A G 6: 143,081,407 V124A probably benign Het
Cd151 T A 7: 141,470,362 I170N probably benign Het
Ckap5 C T 2: 91,577,609 H827Y probably benign Het
Clk3 C T 9: 57,751,763 V572M probably damaging Het
Enpp5 A G 17: 44,081,175 D165G possibly damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Fbxw14 T C 9: 109,286,580 probably benign Het
Fes C T 7: 80,386,810 probably null Het
Gemin4 A T 11: 76,213,398 L179H probably damaging Het
Gm3327 A G 14: 44,124,860 E72G unknown Het
Gm4847 C T 1: 166,638,348 R224Q probably damaging Het
Lonp2 T C 8: 86,714,086 V357A probably damaging Het
Mc2r A G 18: 68,408,072 I50T probably benign Het
Mmp19 C T 10: 128,798,520 A310V probably damaging Het
Naip6 C T 13: 100,299,345 R890Q probably benign Het
Npdc1 T C 2: 25,407,637 S101P possibly damaging Het
Phldb1 T C 9: 44,718,357 probably null Het
Pkd2l1 T C 19: 44,154,223 N460S probably damaging Het
Pnpo A G 11: 96,943,729 probably null Het
Prkcq A T 2: 11,283,843 T536S probably damaging Het
Rft1 T A 14: 30,676,880 V269E probably damaging Het
Skint4 A T 4: 112,120,057 I215F probably damaging Het
Slc12a5 G A 2: 164,973,755 D41N possibly damaging Het
Srp68 T C 11: 116,247,812 probably benign Het
Wdr17 T C 8: 54,662,879 T623A probably damaging Het
Zfand2a A G 5: 139,482,068 probably benign Het
Zfp644 T C 5: 106,635,930 Y917C probably damaging Het
Zmym6 C T 4: 127,123,726 S1008L probably damaging Het
Other mutations in Ddrgk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01643:Ddrgk1 APN 2 130658294 unclassified probably benign
IGL01977:Ddrgk1 APN 2 130655246 unclassified probably benign
IGL02465:Ddrgk1 APN 2 130654709 missense probably damaging 1.00
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 On2014-01-21