Incidental Mutation 'R6644:Pbld1'
ID 526014
Institutional Source Beutler Lab
Gene Symbol Pbld1
Ensembl Gene ENSMUSG00000112129
Gene Name phenazine biosynthesis-like protein domain containing 1
Synonyms Pbld, 0610038K03Rik
MMRRC Submission 044765-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6644 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 62896404-62913743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62910842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 233 (S233T)
Ref Sequence ENSEMBL: ENSMUSP00000020266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020266] [ENSMUST00000178684]
AlphaFold Q9DCG6
Predicted Effect probably damaging
Transcript: ENSMUST00000020266
AA Change: S233T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020266
Gene: ENSMUSG00000112129
AA Change: S233T

DomainStartEndE-ValueType
Pfam:PhzC-PhzF 8 285 7e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178684
AA Change: S232T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136589
Gene: ENSMUSG00000112129
AA Change: S232T

DomainStartEndE-ValueType
Pfam:PhzC-PhzF 8 284 2.6e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218358
Predicted Effect probably benign
Transcript: ENSMUST00000219829
Meta Mutation Damage Score 0.3428 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.3%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 C T 10: 79,844,598 (GRCm39) P1461L probably damaging Het
Abhd14a T C 9: 106,321,472 (GRCm39) Y10C probably damaging Het
Adcy2 C T 13: 68,816,671 (GRCm39) V772M possibly damaging Het
Apob A G 12: 8,059,077 (GRCm39) M2487V probably damaging Het
B4galnt1 T C 10: 127,007,662 (GRCm39) probably null Het
Cabp7 C T 11: 4,690,396 (GRCm39) V76I probably benign Het
Cbr3 A G 16: 93,487,399 (GRCm39) Y194C probably damaging Het
Cdk18 G A 1: 132,049,807 (GRCm39) Q58* probably null Het
Cryba4 T C 5: 112,394,628 (GRCm39) D167G probably damaging Het
Czib T G 4: 107,752,119 (GRCm39) I130S probably damaging Het
Dner T C 1: 84,373,428 (GRCm39) N588S probably damaging Het
Dnm1l T C 16: 16,147,737 (GRCm39) I343V probably benign Het
Eif1ad16 A G 12: 87,985,460 (GRCm39) F28L probably benign Het
Fam168b C A 1: 34,875,822 (GRCm39) G21V probably damaging Het
Fbxw17 G A 13: 50,577,255 (GRCm39) R49Q probably damaging Het
Garin2 T A 12: 78,762,060 (GRCm39) D241E probably damaging Het
Gm10332 T A 14: 55,057,616 (GRCm39) F59I probably damaging Het
Gnai3 A G 3: 108,030,852 (GRCm39) probably null Het
Helz T A 11: 107,523,087 (GRCm39) M75K possibly damaging Het
Hnrnph3 C T 10: 62,854,672 (GRCm39) probably benign Het
Ifi211 C T 1: 173,733,118 (GRCm39) C181Y probably benign Het
Immp1l A G 2: 105,767,390 (GRCm39) K83R probably damaging Het
Itga6 G A 2: 71,671,468 (GRCm39) G740R probably damaging Het
Klhl1 T C 14: 96,755,354 (GRCm39) T134A probably benign Het
Klhl7 A G 5: 24,354,244 (GRCm39) D353G probably damaging Het
Map3k1 A G 13: 111,888,983 (GRCm39) S1325P probably benign Het
Map3k4 A G 17: 12,451,297 (GRCm39) probably null Het
Meioc G A 11: 102,559,286 (GRCm39) probably null Het
Mfap5 T C 6: 122,497,555 (GRCm39) F26L probably damaging Het
Myo5a A G 9: 75,054,249 (GRCm39) T386A probably damaging Het
Npc1l1 A T 11: 6,164,013 (GRCm39) L1266Q probably damaging Het
Npc1l1 G T 11: 6,164,014 (GRCm39) L1266M probably damaging Het
Or4c116 A G 2: 88,942,325 (GRCm39) M177T probably benign Het
Or51aa2 C A 7: 103,188,265 (GRCm39) V59F possibly damaging Het
Phf12 A G 11: 77,916,918 (GRCm39) *789W probably null Het
Sf3b2 A T 19: 5,329,992 (GRCm39) probably null Het
Slc23a3 A G 1: 75,105,191 (GRCm39) I459T probably damaging Het
Spata31e4 A G 13: 50,856,071 (GRCm39) T570A possibly damaging Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Stard9 A C 2: 120,526,253 (GRCm39) M837L probably benign Het
Stx5a A T 19: 8,732,612 (GRCm39) probably benign Het
Tmc7 A G 7: 118,137,385 (GRCm39) V719A probably benign Het
Trank1 T A 9: 111,193,902 (GRCm39) I642K possibly damaging Het
Trim34a T C 7: 103,910,244 (GRCm39) Y349H probably damaging Het
Uba7 A G 9: 107,858,671 (GRCm39) Y834C possibly damaging Het
Ube2d1 A G 10: 71,092,530 (GRCm39) S105P possibly damaging Het
Vps13a A G 19: 16,722,283 (GRCm39) V343A possibly damaging Het
Zbtb37 G A 1: 160,859,643 (GRCm39) Q221* probably null Het
Zfp119b T C 17: 56,246,148 (GRCm39) N346S probably benign Het
Zfp708 G T 13: 67,218,785 (GRCm39) T358K possibly damaging Het
Other mutations in Pbld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0121:Pbld1 UTSW 10 62,907,282 (GRCm39) splice site probably benign
R5847:Pbld1 UTSW 10 62,912,193 (GRCm39) missense probably benign 0.01
R6564:Pbld1 UTSW 10 62,907,806 (GRCm39) missense possibly damaging 0.52
R6827:Pbld1 UTSW 10 62,903,212 (GRCm39) missense probably damaging 1.00
R6882:Pbld1 UTSW 10 62,897,241 (GRCm39) missense probably benign 0.07
R8693:Pbld1 UTSW 10 62,910,890 (GRCm39) nonsense probably null
R8885:Pbld1 UTSW 10 62,912,226 (GRCm39) missense probably benign 0.00
R8944:Pbld1 UTSW 10 62,901,648 (GRCm39) missense probably benign 0.28
R9221:Pbld1 UTSW 10 62,907,829 (GRCm39) missense
R9259:Pbld1 UTSW 10 62,897,436 (GRCm39) missense possibly damaging 0.66
X0053:Pbld1 UTSW 10 62,912,193 (GRCm39) frame shift probably null
X0063:Pbld1 UTSW 10 62,912,232 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TTGAGAGAACCCATTTATAACCCC -3'
(R):5'- AGTATTGCACAATCCCAGCC -3'

Sequencing Primer
(F):5'- CCCATGTTTAATTCTTTATTCCACAC -3'
(R):5'- CTGGTCCACATAGCAAGATCTTG -3'
Posted On 2018-06-22