Incidental Mutation 'IGL02071:Patl1'
ID185807
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Patl1
Ensembl Gene ENSMUSG00000046139
Gene Nameprotein associated with topoisomerase II homolog 1 (yeast)
SynonymsPat1b
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.449) question?
Stock #IGL02071
Quality Score
Status
Chromosome19
Chromosomal Location11912399-11945096 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 11939690 bp
ZygosityHeterozygous
Amino Acid Change Proline to Threonine at position 634 (P634T)
Ref Sequence ENSEMBL: ENSMUSP00000060398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061618]
Predicted Effect probably damaging
Transcript: ENSMUST00000061618
AA Change: P634T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060398
Gene: ENSMUSG00000046139
AA Change: P634T

DomainStartEndE-ValueType
SCOP:d1sig__ 8 111 2e-3 SMART
low complexity region 211 228 N/A INTRINSIC
low complexity region 245 276 N/A INTRINSIC
low complexity region 310 339 N/A INTRINSIC
low complexity region 356 380 N/A INTRINSIC
Pfam:PAT1 465 726 1.9e-18 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,582,812 R92C probably damaging Het
Adam29 C A 8: 55,871,554 V622L possibly damaging Het
Bzw2 T C 12: 36,107,503 H321R probably benign Het
C2cd2 C T 16: 97,870,232 R489Q probably damaging Het
Ccdc129 C A 6: 55,967,725 S477* probably null Het
Cdh23 G A 10: 60,523,560 T253I possibly damaging Het
Col4a3 T G 1: 82,660,887 probably null Het
D630039A03Rik T C 4: 57,910,309 T168A possibly damaging Het
Dnajc19 A G 3: 34,078,765 L97P possibly damaging Het
Dpep2 A T 8: 105,985,144 H550Q probably benign Het
Dvl2 C A 11: 70,004,800 probably null Het
Fam234b A G 6: 135,227,151 probably null Het
Fxyd5 A G 7: 31,040,188 V32A possibly damaging Het
Mak16 A T 8: 31,160,529 S251T probably benign Het
Med10 T C 13: 69,815,628 V116A probably benign Het
Mycbp2 G A 14: 103,154,907 R50* probably null Het
Nckap5 G A 1: 125,981,568 P272L probably damaging Het
Nf1 T A 11: 79,444,121 V933E possibly damaging Het
Nrxn2 T A 19: 6,481,753 V749E probably damaging Het
Olfr1042 C A 2: 86,159,875 R165L probably benign Het
Olfr78 A C 7: 102,742,148 V285G probably damaging Het
Osbpl9 T C 4: 109,071,979 Y417C probably damaging Het
Otop1 G A 5: 38,287,983 A162T probably damaging Het
Ppl A T 16: 5,113,072 S28T probably benign Het
Prkar2b C T 12: 31,963,017 G367R probably damaging Het
Rbl2 G A 8: 91,102,198 V576I probably damaging Het
Rgl3 C T 9: 21,988,263 A53T probably benign Het
Rp1 T A 1: 4,345,310 I1860F possibly damaging Het
Sbno2 A T 10: 80,060,641 D877E probably damaging Het
Sectm1b C T 11: 121,055,935 V45I probably damaging Het
Sfmbt2 G A 2: 10,577,952 V741I probably benign Het
Sugt1 T A 14: 79,610,283 L191* probably null Het
Tcf21 A T 10: 22,817,810 V156E possibly damaging Het
Tep1 T A 14: 50,834,049 R2046S possibly damaging Het
Tmem181a T C 17: 6,297,256 F241S probably damaging Het
Traf6 G A 2: 101,696,793 C296Y probably benign Het
Trim40 A G 17: 36,889,178 S3P probably benign Het
Ttll2 A T 17: 7,351,731 Y266N probably damaging Het
Vps54 A G 11: 21,275,071 N177S probably null Het
Other mutations in Patl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Patl1 APN 19 11929887 missense probably benign
IGL01396:Patl1 APN 19 11923883 missense probably damaging 0.98
IGL02239:Patl1 APN 19 11937359 nonsense probably null
IGL02306:Patl1 APN 19 11942886 missense possibly damaging 0.47
IGL02468:Patl1 APN 19 11932210 missense probably damaging 1.00
IGL03193:Patl1 APN 19 11920840 missense possibly damaging 0.49
R0382:Patl1 UTSW 19 11925232 splice site probably null
R1015:Patl1 UTSW 19 11920373 missense probably benign 0.00
R1871:Patl1 UTSW 19 11925232 splice site probably benign
R1969:Patl1 UTSW 19 11921418 missense probably benign
R2012:Patl1 UTSW 19 11939817 missense probably damaging 1.00
R2058:Patl1 UTSW 19 11932147 missense possibly damaging 0.87
R2859:Patl1 UTSW 19 11923831 missense probably damaging 1.00
R4043:Patl1 UTSW 19 11942950 missense probably damaging 1.00
R4079:Patl1 UTSW 19 11931630 missense probably damaging 1.00
R4647:Patl1 UTSW 19 11914434 missense probably damaging 1.00
R4735:Patl1 UTSW 19 11922505 missense probably benign
R4830:Patl1 UTSW 19 11925151 missense probably benign 0.01
R5321:Patl1 UTSW 19 11921421 missense probably damaging 0.99
R5322:Patl1 UTSW 19 11920859 nonsense probably null
R5460:Patl1 UTSW 19 11935718 missense possibly damaging 0.80
R5855:Patl1 UTSW 19 11921516 missense probably damaging 0.99
R5933:Patl1 UTSW 19 11939772 missense probably benign 0.08
R6020:Patl1 UTSW 19 11937354 missense probably damaging 1.00
R6261:Patl1 UTSW 19 11920331 missense probably damaging 1.00
R6317:Patl1 UTSW 19 11920878 missense probably damaging 1.00
Posted On2014-05-07