Incidental Mutation 'R0311:Pym1'
ID 25216
Institutional Source Beutler Lab
Gene Symbol Pym1
Ensembl Gene ENSMUSG00000064030
Gene Name PYM homolog 1, exon junction complex associated factor
Synonyms A030010B05Rik, Wibg, PYM Protein, Pym
MMRRC Submission 038521-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.907) question?
Stock # R0311 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128583758-128602433 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 128601853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 168 (R168L)
Ref Sequence ENSEMBL: ENSMUSP00000067623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065210] [ENSMUST00000163377] [ENSMUST00000218218]
AlphaFold Q8CHP5
Predicted Effect possibly damaging
Transcript: ENSMUST00000065210
AA Change: R168L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000067623
Gene: ENSMUSG00000064030
AA Change: R168L

DomainStartEndE-ValueType
Mago-bind 11 37 1.22e-11 SMART
coiled coil region 81 116 N/A INTRINSIC
coiled coil region 143 174 N/A INTRINSIC
low complexity region 182 202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163377
AA Change: R169L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129789
Gene: ENSMUSG00000064030
AA Change: R169L

DomainStartEndE-ValueType
Mago-bind 12 38 4.57e-11 SMART
coiled coil region 82 117 N/A INTRINSIC
coiled coil region 144 175 N/A INTRINSIC
low complexity region 183 203 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218218
Meta Mutation Damage Score 0.0749 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.6%
  • 20x: 91.6%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A C 7: 120,002,127 (GRCm39) M1547L probably damaging Het
Abcb4 A G 5: 8,984,243 (GRCm39) K658E probably benign Het
Abr A G 11: 76,399,953 (GRCm39) S15P possibly damaging Het
Adgrb2 G C 4: 129,910,922 (GRCm39) A1168P probably damaging Het
Adgre4 A T 17: 56,109,010 (GRCm39) E339V probably benign Het
Asprv1 T C 6: 86,605,822 (GRCm39) W223R probably damaging Het
Ccdc89 A G 7: 90,075,901 (GRCm39) E37G probably damaging Het
Cd48 C A 1: 171,527,148 (GRCm39) Y191* probably null Het
Chd4 T C 6: 125,078,628 (GRCm39) I257T probably benign Het
Clca4b T C 3: 144,638,257 (GRCm39) M2V probably benign Het
Dnah11 A T 12: 118,090,868 (GRCm39) D1025E probably benign Het
Erich5 A G 15: 34,473,085 (GRCm39) *363W probably null Het
Etl4 A G 2: 20,811,940 (GRCm39) D1341G probably damaging Het
Fbxw11 A G 11: 32,672,083 (GRCm39) T184A probably benign Het
Fktn A G 4: 53,744,620 (GRCm39) Q300R probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gdpd3 G A 7: 126,366,361 (GRCm39) R66Q possibly damaging Het
Hexb A G 13: 97,320,327 (GRCm39) probably benign Het
Kdm4b A G 17: 56,693,200 (GRCm39) R346G probably benign Het
Mbtd1 T A 11: 93,812,183 (GRCm39) probably null Het
Med23 T A 10: 24,773,256 (GRCm39) C653S possibly damaging Het
Nwd2 A T 5: 63,962,341 (GRCm39) I642L probably damaging Het
Or5b12 T A 19: 12,897,460 (GRCm39) Y71F possibly damaging Het
Or5b21 A G 19: 12,839,233 (GRCm39) I31M probably benign Het
Or8b48 T C 9: 38,450,593 (GRCm39) V134A probably benign Het
Pbld2 T C 10: 62,890,286 (GRCm39) probably null Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pkd1l3 G A 8: 110,350,295 (GRCm39) S380N probably benign Het
Plpp2 C T 10: 79,363,414 (GRCm39) R77K probably damaging Het
Rbm4 T C 19: 4,837,584 (GRCm39) Y300C probably damaging Het
Rnf207 A G 4: 152,400,236 (GRCm39) C175R probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Speg T C 1: 75,407,581 (GRCm39) V3196A probably damaging Het
Syne1 T A 10: 5,298,943 (GRCm39) I1048L possibly damaging Het
Th T C 7: 142,449,778 (GRCm39) E41G probably damaging Het
Tmx4 T A 2: 134,440,446 (GRCm39) *336L probably null Het
Tnfrsf18 T C 4: 156,110,872 (GRCm39) V10A possibly damaging Het
Tnxb A T 17: 34,935,958 (GRCm39) I2670F probably damaging Het
Tpx2 T C 2: 152,732,412 (GRCm39) V562A probably damaging Het
Vmn2r73 A G 7: 85,520,997 (GRCm39) S324P probably benign Het
Vps18 T C 2: 119,127,846 (GRCm39) Y890H probably benign Het
Ythdc1 G A 5: 86,983,564 (GRCm39) D670N probably damaging Het
Other mutations in Pym1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1822:Pym1 UTSW 10 128,601,913 (GRCm39) utr 3 prime probably benign
R1823:Pym1 UTSW 10 128,601,913 (GRCm39) utr 3 prime probably benign
R3619:Pym1 UTSW 10 128,601,073 (GRCm39) missense probably damaging 1.00
R8789:Pym1 UTSW 10 128,601,073 (GRCm39) missense probably benign 0.37
Z1177:Pym1 UTSW 10 128,601,821 (GRCm39) missense probably damaging 0.96
Z1177:Pym1 UTSW 10 128,601,813 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- ACAGCCCAGATACCTAGTGCTCTC -3'
(R):5'- TGCTATACCCTCAGCCTCAGATCG -3'

Sequencing Primer
(F):5'- GATACCTAGTGCTCTCCAAGG -3'
(R):5'- TCGGCACTCAGATTGTGAAC -3'
Posted On 2013-04-16