Incidental Mutation 'IGL02026:Pm20d1'
ID184146
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pm20d1
Ensembl Gene ENSMUSG00000042251
Gene Namepeptidase M20 domain containing 1
Synonyms4732466D17Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL02026
Quality Score
Status
Chromosome1
Chromosomal Location131797381-131821473 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 131801759 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 175 (R175*)
Ref Sequence ENSEMBL: ENSMUSP00000108012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048660] [ENSMUST00000112393]
Predicted Effect probably null
Transcript: ENSMUST00000048660
AA Change: R175*
SMART Domains Protein: ENSMUSP00000046079
Gene: ENSMUSG00000042251
AA Change: R175*

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 null
Transcript: ENSMUST00000112393
AA Change: R175*
SMART Domains Protein: ENSMUSP00000108012
Gene: ENSMUSG00000042251
AA Change: R175*

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A T 14: 68,571,802 V237E possibly damaging Het
Amh T C 10: 80,805,408 L54P probably damaging Het
Aoc3 T C 11: 101,337,595 S743P probably benign Het
Arhgap23 T A 11: 97,451,581 W19R probably damaging Het
Atm C T 9: 53,442,417 probably null Het
BC100530 C A 16: 36,367,486 V6F possibly damaging Het
Ccdc47 T C 11: 106,205,027 E281G probably damaging Het
Col7a1 A C 9: 108,968,029 K1650N probably damaging Het
Evi2b T C 11: 79,515,787 S321G probably damaging Het
Fancm T G 12: 65,105,734 V988G probably benign Het
Gbp2 A G 3: 142,633,480 Y431C probably damaging Het
Gclc T C 9: 77,792,060 V530A probably benign Het
Gm4985 T G X: 23,957,994 H314P probably damaging Het
Gm5885 T C 6: 133,531,328 noncoding transcript Het
Hlcs A T 16: 94,134,705 I576N probably damaging Het
Hnrnpul1 A T 7: 25,745,162 F240L probably damaging Het
Itgb6 C A 2: 60,628,066 V448F possibly damaging Het
Lama1 A G 17: 67,809,292 T2385A possibly damaging Het
Lamc2 C T 1: 153,144,736 probably benign Het
Lrrc32 C T 7: 98,499,560 R516C probably benign Het
Lrrtm3 T C 10: 64,088,452 N312S probably damaging Het
Ltbp4 G A 7: 27,327,417 R468* probably null Het
Man1a T C 10: 54,014,473 E373G probably damaging Het
Myo1h A T 5: 114,323,444 Q250L probably null Het
Myo9a T C 9: 59,905,962 V2077A probably damaging Het
Olfr114 A G 17: 37,589,407 probably benign Het
Otud5 C T X: 7,871,993 probably benign Het
Pcsk1 A G 13: 75,112,653 S332G probably benign Het
Pde8b A G 13: 95,034,361 V549A probably damaging Het
Pgap1 A T 1: 54,494,819 M645K probably benign Het
Polr2b A G 5: 77,332,252 N585S probably benign Het
Recql T A 6: 142,366,668 K41* probably null Het
Sccpdh A T 1: 179,678,069 H138L possibly damaging Het
Sec31a A T 5: 100,369,626 S951T probably benign Het
Slc44a4 A T 17: 34,921,856 probably benign Het
Tchhl1 G T 3: 93,470,555 A189S probably damaging Het
Tdrd12 G A 7: 35,504,233 probably benign Het
Trbv12-1 A G 6: 41,113,994 D100G probably damaging Het
Ttll13 T A 7: 80,260,379 S757T probably benign Het
Vipas39 T A 12: 87,251,709 probably benign Het
Vmn1r64 G A 7: 5,883,650 P298L possibly damaging Het
Vmn1r81 A G 7: 12,260,505 S59P probably damaging Het
Vsx1 A T 2: 150,688,527 V145D probably benign Het
Wdfy4 T A 14: 33,093,300 N1586I probably damaging Het
Zan T A 5: 137,405,464 probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zzef1 T A 11: 72,881,338 M1707K probably benign Het
Other mutations in Pm20d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Pm20d1 APN 1 131814000 splice site probably benign
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
R5578:Pm20d1 UTSW 1 131816022 missense probably benign 0.01
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
R8088:Pm20d1 UTSW 1 131801763 missense probably benign 0.37
Z1176:Pm20d1 UTSW 1 131797558 missense possibly damaging 0.89
Z1177:Pm20d1 UTSW 1 131801268 missense probably benign 0.15
Posted On2014-05-07