Incidental Mutation 'IGL01122:Pbdc1'
ID 53344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pbdc1
Ensembl Gene ENSMUSG00000031226
Gene Name polysaccharide biosynthesis domain containing 1
Synonyms 2610029G23Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL01122
Quality Score
Status
Chromosome X
Chromosomal Location 104123362-104160696 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 104126297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033577] [ENSMUST00000119477]
AlphaFold Q9D0B6
Predicted Effect probably benign
Transcript: ENSMUST00000033577
SMART Domains Protein: ENSMUSP00000033577
Gene: ENSMUSG00000031226

DomainStartEndE-ValueType
Pfam:Polysacc_synt_4 35 160 3.2e-26 PFAM
low complexity region 165 182 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119477
SMART Domains Protein: ENSMUSP00000113288
Gene: ENSMUSG00000031226

DomainStartEndE-ValueType
Pfam:Polysacc_synt_4 35 137 6.4e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138137
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144849
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap6 A T X: 168,029,666 (GRCm39) K142N possibly damaging Het
Atp13a1 T A 8: 70,251,555 (GRCm39) L540Q probably damaging Het
Cacna1a T C 8: 85,341,422 (GRCm39) probably null Het
Cops6 A G 5: 138,160,635 (GRCm39) K129E probably benign Het
Cracd T C 5: 77,018,522 (GRCm39) *1289Q probably null Het
Cyp11a1 T C 9: 57,923,589 (GRCm39) I98T probably damaging Het
Cyp2c65 A G 19: 39,060,621 (GRCm39) probably null Het
Dapl1 A T 2: 59,324,839 (GRCm39) K30I probably damaging Het
Dlg2 A G 7: 92,091,816 (GRCm39) M894V possibly damaging Het
Eme2 C T 17: 25,112,320 (GRCm39) A202T possibly damaging Het
Fbxw22 A T 9: 109,215,739 (GRCm39) S170T probably damaging Het
Havcr2 A G 11: 46,347,254 (GRCm39) Y77C probably damaging Het
Ivd T A 2: 118,707,361 (GRCm39) probably benign Het
Map3k9 T C 12: 81,778,900 (GRCm39) D471G possibly damaging Het
Med12 T C X: 100,325,149 (GRCm39) probably benign Het
Megf6 C T 4: 154,338,264 (GRCm39) R445W probably damaging Het
Mptx1 A G 1: 174,159,964 (GRCm39) Y90C probably damaging Het
Nek1 G A 8: 61,574,000 (GRCm39) V1083I possibly damaging Het
Nepn T A 10: 52,267,911 (GRCm39) I59N probably damaging Het
Or4a72 A G 2: 89,405,767 (GRCm39) I101T possibly damaging Het
Phlpp1 G T 1: 106,101,166 (GRCm39) R478L possibly damaging Het
Ppp2r3c C T 12: 55,344,587 (GRCm39) G127D probably benign Het
Ppp2r3d A G 9: 101,088,844 (GRCm39) L493P probably benign Het
Pramel24 A G 4: 143,454,971 (GRCm39) D423G probably benign Het
Psap T C 10: 60,135,253 (GRCm39) V303A probably benign Het
Rdh13 T C 7: 4,445,694 (GRCm39) K60R probably benign Het
Scaf4 A G 16: 90,045,518 (GRCm39) S528P unknown Het
Sfmbt1 A G 14: 30,532,268 (GRCm39) I543V probably damaging Het
Speg T C 1: 75,386,679 (GRCm39) L1271P probably damaging Het
Stard9 C A 2: 120,528,960 (GRCm39) T1739K possibly damaging Het
Tas2r134 G T 2: 51,517,671 (GRCm39) C50F probably damaging Het
Tmprss11b G T 5: 86,811,376 (GRCm39) T186K probably benign Het
U2surp G T 9: 95,372,287 (GRCm39) Q291K probably benign Het
Ulk4 A G 9: 120,997,358 (GRCm39) I738T possibly damaging Het
Urb1 A T 16: 90,601,346 (GRCm39) S142T possibly damaging Het
Vmn2r112 T A 17: 22,821,988 (GRCm39) I222N probably benign Het
Zmym4 T C 4: 126,758,045 (GRCm39) N1503S probably damaging Het
Posted On 2013-06-21