Incidental Mutation 'R5578:Pm20d1'
ID437282
Institutional Source Beutler Lab
Gene Symbol Pm20d1
Ensembl Gene ENSMUSG00000042251
Gene Namepeptidase M20 domain containing 1
Synonyms4732466D17Rik
MMRRC Submission 043133-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #R5578 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location131797381-131821473 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 131816022 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 475 (N475S)
Ref Sequence ENSEMBL: ENSMUSP00000108012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048660] [ENSMUST00000112393]
Predicted Effect probably benign
Transcript: ENSMUST00000048660
AA Change: N475S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000046079
Gene: ENSMUSG00000042251
AA Change: N475S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Peptidase_M20 121 489 3.5e-34 PFAM
Pfam:M20_dimer 240 389 5.7e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112393
AA Change: N475S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000108012
Gene: ENSMUSG00000042251
AA Change: N475S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Peptidase_M20 121 489 7e-33 PFAM
Pfam:M20_dimer 240 389 5.7e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132450
Predicted Effect unknown
Transcript: ENSMUST00000152989
AA Change: N70S
SMART Domains Protein: ENSMUSP00000116936
Gene: ENSMUSG00000042251
AA Change: N70S

DomainStartEndE-ValueType
Pfam:Peptidase_M20 2 85 6.9e-9 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A G 16: 31,108,114 S521P probably benign Het
Aqp11 A G 7: 97,737,458 F177S probably damaging Het
Arhgap40 G T 2: 158,531,206 G128V probably damaging Het
Aspm A T 1: 139,470,717 K1011I probably damaging Het
Cachd1 A G 4: 100,865,006 T89A probably benign Het
Cep89 ACTCCTCCTCCTCCTCCTCCTCCTC ACTCCTCCTCCTCCTCCTCCTC 7: 35,409,642 probably benign Het
Cfhr2 A T 1: 139,831,068 C81* probably null Het
Chd7 A G 4: 8,847,149 T1631A probably benign Het
Clca4b T A 3: 144,932,435 D22V probably benign Het
Cybb C G X: 9,450,750 D246H probably benign Het
Cyp39a1 T A 17: 43,680,140 N113K possibly damaging Het
Dnah11 A T 12: 118,018,802 V2544D probably damaging Het
Esr1 A C 10: 4,969,164 Q418P probably damaging Het
Fam89a T A 8: 124,741,229 K115* probably null Het
Fstl4 T A 11: 53,165,781 V455D probably damaging Het
Gm10031 A G 1: 156,525,230 M334V probably benign Het
Gm20730 T A 6: 43,081,540 M113L probably benign Het
Hist2h2ab T C 3: 96,220,238 V108A probably damaging Het
Hk3 C T 13: 55,012,181 V327M probably damaging Het
Itm2c T A 1: 85,903,053 V57E possibly damaging Het
Lrba T C 3: 86,757,507 Y565H probably benign Het
Mab21l1 C T 3: 55,784,014 Q341* probably null Het
Mdm2 C T 10: 117,702,287 E69K possibly damaging Het
Mdn1 A T 4: 32,728,167 I2709F probably benign Het
Mpp7 T C 18: 7,355,101 N442D probably benign Het
Ncoa3 A G 2: 166,054,328 I384V probably benign Het
Rhpn2 A G 7: 35,370,710 D131G probably damaging Het
S1pr5 T A 9: 21,244,551 Y193F probably damaging Het
Sdk1 A T 5: 141,613,125 K182* probably null Het
Slx4 T A 16: 3,986,862 E696V probably damaging Het
Smyd4 C T 11: 75,404,776 P753S probably benign Het
Stambp T G 6: 83,561,800 D206A probably benign Het
Sult5a1 G T 8: 123,143,121 Y262* probably null Het
Taar1 A T 10: 23,920,820 I139F possibly damaging Het
Tchh A T 3: 93,444,311 R353* probably null Het
Thnsl2 C T 6: 71,138,765 V153I probably benign Het
Trmt5 C T 12: 73,285,063 probably null Het
Trpa1 T A 1: 14,887,008 Y728F probably damaging Het
Usp19 T C 9: 108,493,440 V126A probably benign Het
Vcan A G 13: 89,691,503 V1974A probably benign Het
Vmn2r120 T A 17: 57,522,514 H461L probably benign Het
Wdr63 A T 3: 146,097,228 Y69* probably null Het
Zfp445 T C 9: 122,853,337 Y513C probably benign Het
Zfp84 A C 7: 29,775,431 M43L possibly damaging Het
Other mutations in Pm20d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Pm20d1 APN 1 131814000 splice site probably benign
IGL02026:Pm20d1 APN 1 131801759 nonsense probably null
IGL02684:Pm20d1 APN 1 131804959 missense probably benign 0.01
R1725:Pm20d1 UTSW 1 131816058 missense probably damaging 1.00
R1808:Pm20d1 UTSW 1 131802427 missense probably benign 0.02
R2010:Pm20d1 UTSW 1 131812114 missense probably benign 0.02
R4663:Pm20d1 UTSW 1 131798602 missense probably damaging 1.00
R4790:Pm20d1 UTSW 1 131812039 missense probably benign 0.08
R5211:Pm20d1 UTSW 1 131806909 missense possibly damaging 0.90
R6314:Pm20d1 UTSW 1 131816016 missense possibly damaging 0.82
R6410:Pm20d1 UTSW 1 131798596 missense probably benign 0.30
R6880:Pm20d1 UTSW 1 131804101 missense probably benign 0.00
R7128:Pm20d1 UTSW 1 131797554 missense probably benign 0.01
Z1176:Pm20d1 UTSW 1 131797558 missense possibly damaging 0.89
Z1177:Pm20d1 UTSW 1 131801268 missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- TCCTTGAGAAATCACCGCTAGG -3'
(R):5'- AACTCTGTTCAGGATGGTTTCC -3'

Sequencing Primer
(F):5'- ACTAACAGTGACTTTTCTCACCTTG -3'
(R):5'- GTTTCCACCAAACCCTTCATTAATAC -3'
Posted On2016-10-26