Incidental Mutation 'IGL02260:Ubiad1'
ID286717
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubiad1
Ensembl Gene ENSMUSG00000047719
Gene NameUbiA prenyltransferase domain containing 1
SynonymsTere1, 1200002M06Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.558) question?
Stock #IGL02260
Quality Score
Status
Chromosome4
Chromosomal Location148434495-148444771 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 148444107 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 115 (D115G)
Ref Sequence ENSEMBL: ENSMUSP00000058502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051633] [ENSMUST00000057580] [ENSMUST00000103221]
Predicted Effect probably benign
Transcript: ENSMUST00000051633
AA Change: D115G

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000058502
Gene: ENSMUSG00000047719
AA Change: D115G

DomainStartEndE-ValueType
Pfam:UbiA 59 324 1.2e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000057580
SMART Domains Protein: ENSMUSP00000054164
Gene: ENSMUSG00000028991

DomainStartEndE-ValueType
SCOP:d1gw5a_ 19 230 1e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082714
Predicted Effect probably benign
Transcript: ENSMUST00000103221
SMART Domains Protein: ENSMUSP00000099510
Gene: ENSMUSG00000028991

DomainStartEndE-ValueType
low complexity region 7 21 N/A INTRINSIC
low complexity region 179 191 N/A INTRINSIC
low complexity region 277 288 N/A INTRINSIC
low complexity region 774 790 N/A INTRINSIC
DUF3385 854 1024 1.51e-93 SMART
low complexity region 1279 1300 N/A INTRINSIC
Pfam:FAT 1513 1908 2.3e-134 PFAM
Rapamycin_bind 2015 2114 7.94e-61 SMART
PI3Kc 2183 2484 8.84e-121 SMART
FATC 2517 2549 2.11e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156686
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 C T 17: 57,447,891 A663V probably benign Het
Atg2b A T 12: 105,636,440 probably benign Het
B4galt6 T C 18: 20,700,747 I194V probably benign Het
Caprin1 T C 2: 103,779,369 Y188C probably damaging Het
Ccdc85a A G 11: 28,576,672 F284S possibly damaging Het
Ccdc88b A T 19: 6,855,349 probably benign Het
Cox18 C T 5: 90,217,525 V272I possibly damaging Het
Dars A T 1: 128,372,161 M362K probably benign Het
Ddi1 A T 9: 6,265,760 M203K probably benign Het
Dlg4 G A 11: 70,042,267 G500R probably damaging Het
Ebf3 G A 7: 137,206,190 P375S probably damaging Het
Eif5b T A 1: 38,045,456 L842M possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm5581 T C 6: 131,167,946 noncoding transcript Het
Mapk10 A T 5: 103,038,668 D29E probably benign Het
Mib2 C T 4: 155,661,171 R61H probably damaging Het
Mki67 A G 7: 135,701,968 S724P probably benign Het
Mtor T C 4: 148,538,301 I1946T probably damaging Het
Myh14 A G 7: 44,611,571 L1873P probably damaging Het
Myom1 C T 17: 71,108,315 Q1226* probably null Het
Neb A G 2: 52,205,656 L4858P probably damaging Het
Olfr1036 C A 2: 86,075,472 T244K possibly damaging Het
Olfr502 T C 7: 108,523,285 I222V probably benign Het
Olfr561 A T 7: 102,774,907 I128F probably damaging Het
Pcdhb14 C T 18: 37,450,033 H731Y probably benign Het
Prdm16 T C 4: 154,328,287 N1087S probably benign Het
Prdm2 C T 4: 143,134,587 G711D probably damaging Het
Proser1 G A 3: 53,478,944 G749D probably damaging Het
Ptch1 A T 13: 63,565,352 probably benign Het
Pus10 A T 11: 23,707,548 K233* probably null Het
Rasa2 A G 9: 96,544,319 Y825H probably benign Het
Tbcd T C 11: 121,603,278 F969S probably damaging Het
Tbp T A 17: 15,504,616 S133T probably damaging Het
Tnks C T 8: 34,842,983 G1062D probably damaging Het
Tnrc6b T A 15: 80,880,171 S625T probably damaging Het
Triobp T C 15: 78,966,362 S239P probably benign Het
Uckl1 A G 2: 181,569,588 S483P probably damaging Het
Vill A G 9: 119,058,441 D91G probably benign Het
Wdr62 C A 7: 30,270,782 C200F probably damaging Het
Zfp341 G A 2: 154,642,049 C586Y possibly damaging Het
Zfp687 G A 3: 95,011,264 T399I possibly damaging Het
Zp1 G T 19: 10,916,714 probably benign Het
Zzz3 T A 3: 152,452,083 D263E probably benign Het
Other mutations in Ubiad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Ubiad1 APN 4 148436357 missense probably benign 0.33
R1935:Ubiad1 UTSW 4 148444011 missense probably damaging 1.00
R1936:Ubiad1 UTSW 4 148444011 missense probably damaging 1.00
R1937:Ubiad1 UTSW 4 148444011 missense probably damaging 1.00
R1939:Ubiad1 UTSW 4 148444011 missense probably damaging 1.00
R1940:Ubiad1 UTSW 4 148444011 missense probably damaging 1.00
R3617:Ubiad1 UTSW 4 148436360 missense probably benign 0.01
R4873:Ubiad1 UTSW 4 148444099 missense possibly damaging 0.91
R4875:Ubiad1 UTSW 4 148444099 missense possibly damaging 0.91
R5284:Ubiad1 UTSW 4 148436498 missense probably damaging 1.00
R5343:Ubiad1 UTSW 4 148436435 missense possibly damaging 0.90
R6271:Ubiad1 UTSW 4 148436626 nonsense probably null
R6467:Ubiad1 UTSW 4 148436225 missense possibly damaging 0.46
R6929:Ubiad1 UTSW 4 148444122 missense probably damaging 1.00
Posted On2015-04-16