Incidental Mutation 'IGL02684:Pm20d1'
List |< first << previous [record 24 of 33] next >> last >|
ID303484
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: 0.121) question?
Stock #IGL02684
Quality Score
Status
Chromosome1
Chromosomal Location131797381-131821473 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 131804959 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 345 (N345K)
Ref Sequence ENSEMBL: ENSMUSP00000108012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048660] [ENSMUST00000112393]
Predicted Effect probably benign
Transcript: ENSMUST00000048660
AA Change: N345K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000046079
Gene: ENSMUSG00000042251
AA Change: N345K

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: N345K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000108012
Gene: ENSMUSG00000042251
AA Change: N345K

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A T 14: 35,810,063 L185* probably null Het
Actrt3 A T 3: 30,599,691 D53E probably benign Het
Ankrd34b T C 13: 92,438,508 S83P probably damaging Het
Asap1 A G 15: 64,094,169 V1029A probably benign Het
Blk T C 14: 63,379,694 E288G probably benign Het
Cep192 T G 18: 67,834,563 V706G probably damaging Het
Chd2 T C 7: 73,475,349 K908E probably damaging Het
Dnm1l A T 16: 16,321,657 I391N possibly damaging Het
Fam84a T C 12: 14,150,645 D27G probably damaging Het
Fmn1 A G 2: 113,525,277 R688G unknown Het
Gdap2 A G 3: 100,171,020 D100G probably benign Het
Gm43638 T C 5: 87,462,910 I522V possibly damaging Het
Gm438 A G 4: 144,778,185 probably benign Het
Gsap A T 5: 21,242,803 probably null Het
Hoxd12 A G 2: 74,675,561 S159G probably benign Het
Ints7 A G 1: 191,613,637 probably null Het
Iqsec3 G A 6: 121,412,941 Q524* probably null Het
Klra10 T A 6: 130,281,882 H14L possibly damaging Het
Mettl15 T C 2: 109,131,580 E228G probably damaging Het
Olfr466 G A 13: 65,152,396 M57I probably damaging Het
Olfr624 T C 7: 103,670,384 M216V probably benign Het
Pabpc1l A G 2: 164,031,277 N156D probably benign Het
Pkhd1l1 G T 15: 44,516,209 probably null Het
Rasgrp1 A G 2: 117,282,576 V785A probably benign Het
Sos2 A G 12: 69,596,666 L980S probably damaging Het
Stam2 A T 2: 52,719,935 H56Q probably damaging Het
Trpm6 T A 19: 18,802,207 probably benign Het
Trpm7 A T 2: 126,846,159 D249E probably damaging Het
Vmn1r203 A T 13: 22,524,369 T107S possibly damaging Het
Vmn2r55 A G 7: 12,670,960 L172P probably damaging Het
Vrtn A G 12: 84,650,149 R558G probably benign Het
Zfp977 A T 7: 42,583,015 D7E probably 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
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 On2015-04-16