Incidental Mutation 'R0121:Pbld1'
ID 21046
Institutional Source Beutler Lab
Gene Symbol Pbld1
Ensembl Gene ENSMUSG00000112129
Gene Name phenazine biosynthesis-like protein domain containing 1
Synonyms Pbld, 0610038K03Rik
MMRRC Submission 038406-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0121 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 62896404-62913743 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 62907282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000020266] [ENSMUST00000178684]
AlphaFold Q9DCG6
Predicted Effect probably benign
Transcript: ENSMUST00000020266
SMART Domains Protein: ENSMUSP00000020266
Gene: ENSMUSG00000112129

DomainStartEndE-ValueType
Pfam:PhzC-PhzF 8 285 7e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178684
SMART Domains Protein: ENSMUSP00000136589
Gene: ENSMUSG00000112129

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 89.8%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,298,945 (GRCm39) probably null Het
Adgra3 T C 5: 50,183,128 (GRCm39) probably benign Het
Anxa7 A T 14: 20,510,227 (GRCm39) L386M probably damaging Het
Ap2b1 A G 11: 83,212,793 (GRCm39) M58V possibly damaging Het
Arfip2 A G 7: 105,285,578 (GRCm39) L224P probably damaging Het
Arhgap20 A G 9: 51,750,251 (GRCm39) N373S possibly damaging Het
Asph T C 4: 9,635,918 (GRCm39) D73G probably damaging Het
Atp1a2 T A 1: 172,116,909 (GRCm39) E236V probably damaging Het
Atp2a1 A G 7: 126,057,116 (GRCm39) S170P probably damaging Het
Atp4a C G 7: 30,419,526 (GRCm39) R659G probably benign Het
B4galnt3 C T 6: 120,191,999 (GRCm39) R578H probably benign Het
Ccdc178 C A 18: 21,978,081 (GRCm39) probably null Het
Ccnh T A 13: 85,354,312 (GRCm39) M252K probably damaging Het
Clec4b2 A G 6: 123,181,131 (GRCm39) D172G probably benign Het
Col1a1 A G 11: 94,828,895 (GRCm39) E79G unknown Het
Csf3r A G 4: 125,923,642 (GRCm39) N51D probably benign Het
Cul7 C T 17: 46,974,299 (GRCm39) L1489F probably damaging Het
Cyp2b13 G A 7: 25,786,010 (GRCm39) C309Y probably benign Het
Dync2h1 A T 9: 7,001,327 (GRCm39) probably benign Het
Edn1 A G 13: 42,458,741 (GRCm39) T135A probably benign Het
Ephb2 A G 4: 136,498,368 (GRCm39) I237T probably damaging Het
Fam111a T A 19: 12,561,444 (GRCm39) F12L probably benign Het
Foxi2 C A 7: 135,013,640 (GRCm39) A290E probably benign Het
Gabra6 A G 11: 42,205,798 (GRCm39) S353P probably benign Het
Gm4847 T C 1: 166,469,857 (GRCm39) D72G probably damaging Het
Grhl3 A G 4: 135,279,860 (GRCm39) I398T probably damaging Het
Gtdc1 T C 2: 44,455,550 (GRCm39) probably benign Het
Kel A C 6: 41,678,998 (GRCm39) probably benign Het
L3mbtl3 C T 10: 26,189,768 (GRCm39) D499N unknown Het
Lama1 T A 17: 68,105,508 (GRCm39) probably benign Het
Mamdc2 T A 19: 23,288,223 (GRCm39) E605V probably benign Het
Nolc1 G A 19: 46,069,817 (GRCm39) probably benign Het
Nudt12 A T 17: 59,314,634 (GRCm39) S317T possibly damaging Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or4k35 A T 2: 111,100,659 (GRCm39) C18S probably benign Het
Or5w20 A G 2: 87,727,434 (GRCm39) K297R possibly damaging Het
Or8g23 T A 9: 38,971,056 (GRCm39) K302M probably damaging Het
Or8k38 A G 2: 86,488,163 (GRCm39) V213A probably benign Het
Prl8a9 T G 13: 27,744,589 (GRCm39) N84T probably benign Het
Psph T A 5: 129,868,633 (GRCm39) probably benign Het
Sbf2 A G 7: 110,088,426 (GRCm39) probably null Het
Senp6 A G 9: 80,023,952 (GRCm39) D405G probably benign Het
Serpinb1a T A 13: 33,032,754 (GRCm39) probably benign Het
Slc2a9 T C 5: 38,556,086 (GRCm39) I287V probably benign Het
Sptbn2 T C 19: 4,795,321 (GRCm39) F1593S probably damaging Het
Tcf21 T C 10: 22,695,706 (GRCm39) T33A probably benign Het
Tdrd3 A T 14: 87,776,915 (GRCm39) Q727L probably damaging Het
Tecpr1 C T 5: 144,147,017 (GRCm39) E450K probably benign Het
Tenm3 G A 8: 48,795,694 (GRCm39) T532I probably damaging Het
Tg A T 15: 66,612,630 (GRCm39) Q396L probably benign Het
Tmtc3 A G 10: 100,294,770 (GRCm39) probably benign Het
Twnk T C 19: 44,997,704 (GRCm39) probably benign Het
Ubac1 A G 2: 25,898,871 (GRCm39) probably null Het
Ubn2 T C 6: 38,429,793 (GRCm39) probably benign Het
Zfp944 T A 17: 22,558,249 (GRCm39) T333S possibly damaging Het
Other mutations in Pbld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6644:Pbld1 UTSW 10 62,910,842 (GRCm39) missense probably damaging 1.00
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'- ATGAAGCTCGGCAGCAAGTACC -3'
(R):5'- ACCTTCAGGCTCTCTAGAAAGGACC -3'

Sequencing Primer
(F):5'- GGCAGCAAGTACCTGCAC -3'
(R):5'- gcctctcatcctggcac -3'
Posted On 2013-04-11