Incidental Mutation 'R6140:Ddrgk1'
ID 488524
Institutional Source Beutler Lab
Gene Symbol Ddrgk1
Ensembl Gene ENSMUSG00000068290
Gene Name DDRGK domain containing 1
Synonyms 2600009E05Rik, 1110001I20Rik
MMRRC Submission 044287-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6140 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 130495955-130506549 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130500534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 204 (V204A)
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 benign
Transcript: ENSMUST00000089559
AA Change: V204A

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000086988
Gene: ENSMUSG00000068290
AA Change: V204A

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 unknown
Transcript: ENSMUST00000134044
AA Change: V34A
SMART Domains Protein: ENSMUSP00000114535
Gene: ENSMUSG00000068290
AA Change: V34A

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
Meta Mutation Damage Score 0.1238 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.2%
  • 10x: 96.9%
  • 20x: 91.8%
Validation Efficiency 100% (46/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik T C 12: 17,055,923 (GRCm39) probably benign Het
Adgra2 A T 8: 27,605,433 (GRCm39) R593W probably damaging Het
Agfg2 T C 5: 137,665,347 (GRCm39) Q136R probably damaging Het
Ankrd42 T C 7: 92,241,036 (GRCm39) probably null Het
Baz2b T C 2: 59,742,871 (GRCm39) D1643G probably damaging Het
Ccdc171 C T 4: 83,614,554 (GRCm39) Q1060* probably null Het
Cela1 C T 15: 100,579,037 (GRCm39) R207H probably benign Het
Cfhr4 A G 1: 139,660,133 (GRCm39) V664A probably damaging Het
Clic6 A G 16: 92,336,380 (GRCm39) R563G probably damaging Het
Cspg4 A T 9: 56,804,508 (GRCm39) H1773L probably benign Het
Dhrs7c A T 11: 67,705,900 (GRCm39) T218S probably damaging Het
Dlgap4 A T 2: 156,604,649 (GRCm39) probably null Het
Hgd A T 16: 37,410,075 (GRCm39) Y37F probably benign Het
Hmcn1 A C 1: 150,608,597 (GRCm39) N1528K probably damaging Het
Hps3 A G 3: 20,051,151 (GRCm39) F843S probably damaging Het
Ifih1 A G 2: 62,431,804 (GRCm39) F800S possibly damaging Het
Igsf21 T A 4: 139,834,684 (GRCm39) T63S probably benign Het
Il18rap T G 1: 40,564,212 (GRCm39) M110R probably benign Het
Kcnk2 G T 1: 188,942,104 (GRCm39) H384Q probably damaging Het
Lima1 C T 15: 99,678,939 (GRCm39) V341M probably damaging Het
Lins1 T C 7: 66,361,672 (GRCm39) L441P probably damaging Het
Lss T C 10: 76,386,522 (GRCm39) Y642H probably damaging Het
Mrc2 A G 11: 105,237,615 (GRCm39) T1098A probably benign Het
Nf1 T A 11: 79,364,146 (GRCm39) probably null Het
Nrdc G T 4: 108,906,308 (GRCm39) A730S probably damaging Het
Nup214 C T 2: 31,941,808 (GRCm39) T72I possibly damaging Het
Or6c213 T G 10: 129,574,523 (GRCm39) K88Q possibly damaging Het
Or8g33 A G 9: 39,337,543 (GRCm39) S275P possibly damaging Het
Or8k35 A T 2: 86,424,448 (GRCm39) C241* probably null Het
Oxt A G 2: 130,418,191 (GRCm39) Y21C probably damaging Het
Pla2g12b G A 10: 59,257,263 (GRCm39) probably benign Het
Ralgapb T C 2: 158,298,492 (GRCm39) V907A probably damaging Het
Rnls A T 19: 33,115,600 (GRCm39) D157E probably damaging Het
Slc7a14 C A 3: 31,291,697 (GRCm39) V194L probably benign Het
Slc7a7 G A 14: 54,616,515 (GRCm39) T189I probably damaging Het
Snupn C A 9: 56,890,108 (GRCm39) Q310K possibly damaging Het
Ssh1 A G 5: 114,080,692 (GRCm39) Y891H probably benign Het
Suclg2 T C 6: 95,546,702 (GRCm39) D258G probably damaging Het
Tpk1 A T 6: 43,400,635 (GRCm39) M129K probably benign Het
Ubr3 A G 2: 69,803,673 (GRCm39) I1088V probably benign Het
Vmn1r3 A G 4: 3,185,031 (GRCm39) I92T probably damaging Het
Vmn2r69 G A 7: 85,060,657 (GRCm39) S309F probably damaging Het
Wsb1 A T 11: 79,132,444 (GRCm39) H325Q probably damaging Het
Zfp263 A G 16: 3,566,081 (GRCm39) S281G probably benign Het
Zfp507 A G 7: 35,493,613 (GRCm39) S477P probably damaging Het
Other mutations in Ddrgk1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- CCATCACCTGCTTTCATAAGAGG -3'
(R):5'- TGGTTAGCTTGAGACCAAAGGG -3'

Sequencing Primer
(F):5'- CCTGCTTTCATAAGAGGTAAGGACC -3'
(R):5'- TTGAAGAAGCACCGTCTCTG -3'
Posted On 2017-10-10