Incidental Mutation 'R3617:Ubiad1'
ID 268466
Institutional Source Beutler Lab
Gene Symbol Ubiad1
Ensembl Gene ENSMUSG00000047719
Gene Name UbiA prenyltransferase domain containing 1
Synonyms 1200002M06Rik, Tere1
MMRRC Submission 040674-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3617 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 148518952-148529217 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148520817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 269 (I269T)
Ref Sequence ENSEMBL: ENSMUSP00000058502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051633]
AlphaFold Q9DC60
Predicted Effect probably benign
Transcript: ENSMUST00000051633
AA Change: I269T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000058502
Gene: ENSMUSG00000047719
AA Change: I269T

DomainStartEndE-ValueType
Pfam:UbiA 59 324 1.2e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156686
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (41/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality, reduced embryo size, failure to form the primitive streak, no mesoderm and inability to synthesize menaquinone 4. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,625,015 (GRCm39) V460A probably damaging Het
Aplf T C 6: 87,648,865 (GRCm39) I25V possibly damaging Het
Ascc3 A G 10: 50,494,281 (GRCm39) T239A probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cbfa2t2 A T 2: 154,278,904 (GRCm39) probably benign Het
Ccdc168 T C 1: 44,100,114 (GRCm39) D328G probably benign Het
Cdkn1c C T 7: 143,013,531 (GRCm39) probably benign Het
Cfap46 A G 7: 139,219,515 (GRCm39) S1317P probably benign Het
Cntln C T 4: 84,923,214 (GRCm39) Q560* probably null Het
Cntn2 G C 1: 132,456,361 (GRCm39) A161G probably benign Het
Crybg1 A G 10: 43,832,782 (GRCm39) I1991T possibly damaging Het
Cttnbp2 T C 6: 18,414,189 (GRCm39) E952G probably damaging Het
Dhx36 T C 3: 62,379,428 (GRCm39) T887A possibly damaging Het
Dhx36 A G 3: 62,394,481 (GRCm39) F512L probably benign Het
Fthl17f A G X: 8,929,862 (GRCm39) T153A probably benign Het
Gad1-ps T A 10: 99,281,260 (GRCm39) noncoding transcript Het
Gba2 C T 4: 43,573,803 (GRCm39) R163H probably damaging Het
Gm10717 A G 9: 3,025,532 (GRCm39) Y39C probably benign Het
Gm17019 A T 5: 15,081,081 (GRCm39) M120K possibly damaging Het
Helz2 C T 2: 180,874,854 (GRCm39) R1880H probably damaging Het
Ifi204 T C 1: 173,583,283 (GRCm39) I312V possibly damaging Het
Kncn T C 4: 115,743,089 (GRCm39) F55L probably benign Het
Kndc1 G A 7: 139,481,976 (GRCm39) probably benign Het
Nat8f3 C A 6: 85,738,670 (GRCm39) A31S probably benign Het
Ndst4 T C 3: 125,231,782 (GRCm39) I117T probably benign Het
Ndufa9 G T 6: 126,826,071 (GRCm39) probably benign Het
Nup42 T C 5: 24,387,325 (GRCm39) S372P probably benign Het
Pde6a A G 18: 61,364,575 (GRCm39) probably benign Het
Pigw T C 11: 84,769,133 (GRCm39) I65M probably damaging Het
Pip A G 6: 41,828,871 (GRCm39) T139A probably benign Het
Rel A T 11: 23,695,780 (GRCm39) D202E probably damaging Het
Rhot2 A G 17: 26,059,955 (GRCm39) probably benign Het
Sh3rf3 G A 10: 58,922,685 (GRCm39) R587Q possibly damaging Het
Sim1 T A 10: 50,785,624 (GRCm39) M231K probably damaging Het
Slc12a9 G A 5: 137,330,759 (GRCm39) T47M probably damaging Het
Slc4a4 A G 5: 89,382,663 (GRCm39) D1036G probably benign Het
Tas2r143 A T 6: 42,377,997 (GRCm39) I276F probably benign Het
Tgfbr3 A T 5: 107,288,485 (GRCm39) F392Y possibly damaging Het
Tmem266 T C 9: 55,307,918 (GRCm39) V148A probably damaging Het
Vwc2l A G 1: 70,768,041 (GRCm39) probably null Het
Zbtb49 G A 5: 38,357,975 (GRCm39) probably benign Het
Other mutations in Ubiad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Ubiad1 APN 4 148,520,814 (GRCm39) missense probably benign 0.33
IGL02260:Ubiad1 APN 4 148,528,564 (GRCm39) missense probably benign 0.23
R1935:Ubiad1 UTSW 4 148,528,468 (GRCm39) missense probably damaging 1.00
R1936:Ubiad1 UTSW 4 148,528,468 (GRCm39) missense probably damaging 1.00
R1937:Ubiad1 UTSW 4 148,528,468 (GRCm39) missense probably damaging 1.00
R1939:Ubiad1 UTSW 4 148,528,468 (GRCm39) missense probably damaging 1.00
R1940:Ubiad1 UTSW 4 148,528,468 (GRCm39) missense probably damaging 1.00
R4873:Ubiad1 UTSW 4 148,528,556 (GRCm39) missense possibly damaging 0.91
R4875:Ubiad1 UTSW 4 148,528,556 (GRCm39) missense possibly damaging 0.91
R5284:Ubiad1 UTSW 4 148,520,955 (GRCm39) missense probably damaging 1.00
R5343:Ubiad1 UTSW 4 148,520,892 (GRCm39) missense possibly damaging 0.90
R6271:Ubiad1 UTSW 4 148,521,083 (GRCm39) nonsense probably null
R6467:Ubiad1 UTSW 4 148,520,682 (GRCm39) missense possibly damaging 0.46
R6929:Ubiad1 UTSW 4 148,528,579 (GRCm39) missense probably damaging 1.00
R7881:Ubiad1 UTSW 4 148,528,726 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTGCTGGTCTCCTCAGAGTC -3'
(R):5'- TGTTTGCCTACGCTGTCCAG -3'

Sequencing Primer
(F):5'- TCTCCTCAGAGTCTGGGCAG -3'
(R):5'- GTGGGATCCCTGGCCATCTTC -3'
Posted On 2015-02-19