Incidental Mutation 'IGL02306:Patl1'
ID287586
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 essential (E-score: 0.585) question?
Stock #IGL02306
Quality Score
Status
Chromosome19
Chromosomal Location11912399-11945096 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 11942886 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 735 (K735E)
Ref Sequence ENSEMBL: ENSMUSP00000060398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061618]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061618
AA Change: K735E

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000060398
Gene: ENSMUSG00000046139
AA Change: K735E

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,158,395 Y680C probably damaging Het
Abcb11 C T 2: 69,265,457 W846* probably null Het
Adam34 G A 8: 43,650,485 R708C probably benign Het
Adam6a T A 12: 113,545,723 L572Q possibly damaging Het
Aldoart2 A G 12: 55,565,704 Y138C probably damaging Het
Amigo1 T A 3: 108,187,986 F267Y probably benign Het
Car7 A G 8: 104,548,998 Y137C probably damaging Het
Ccar2 A T 14: 70,142,022 M509K probably benign Het
Cd160 A T 3: 96,808,823 I17N possibly damaging Het
Cd163l1 T C 7: 140,223,356 C278R probably damaging Het
Cmya5 C T 13: 93,098,019 G187D probably damaging Het
Crot A T 5: 8,968,701 V555E possibly damaging Het
Cstf1 C T 2: 172,372,971 T4I probably benign Het
Cyp2a12 A G 7: 27,032,583 K250E probably damaging Het
Deaf1 T C 7: 141,324,181 probably null Het
Dse C T 10: 34,160,134 E249K probably damaging Het
E4f1 G T 17: 24,446,929 R88S probably damaging Het
Fam160b2 T C 14: 70,588,997 D217G probably benign Het
Fam83a A C 15: 57,995,308 D248A probably damaging Het
Hadhb T A 5: 30,166,749 L66Q probably null Het
Kalrn T C 16: 34,310,527 E440G probably damaging Het
Kif3b A G 2: 153,320,652 Y527C probably damaging Het
Krt4 T C 15: 101,921,305 I263V probably benign Het
Krtap29-1 A T 11: 99,978,266 V263E probably damaging Het
Mms19 A G 19: 41,966,264 L72P probably damaging Het
Mylpf T A 7: 127,213,158 probably benign Het
Nalcn T A 14: 123,323,338 I776F probably benign Het
Nedd4l T G 18: 65,172,954 S292R possibly damaging Het
Nlrc3 A C 16: 3,964,824 D240E probably damaging Het
Obscn A T 11: 58,999,671 I7345N unknown Het
Olfr1189 A T 2: 88,592,606 K267N probably benign Het
Ostn A T 16: 27,346,941 S127C probably damaging Het
Pde12 A G 14: 26,668,378 L392P possibly damaging Het
Plxdc2 A G 2: 16,660,774 I213V probably benign Het
Plxna4 T A 6: 32,206,124 Y948F probably benign Het
Prlhr A T 19: 60,467,915 V71E probably damaging Het
Prlr C T 15: 10,328,674 P412S probably benign Het
Prmt9 A G 8: 77,560,818 K196R probably benign Het
Rundc3a T A 11: 102,400,938 L387Q probably damaging Het
Ryr3 T C 2: 112,834,114 I1611V probably damaging Het
Ryr3 A G 2: 112,847,399 probably null Het
Sfxn2 T A 19: 46,590,548 M240K probably damaging Het
Skor2 T C 18: 76,862,679 S901P probably benign Het
Smad4 T C 18: 73,662,869 probably null Het
Snrnp40 T G 4: 130,365,100 C100W probably benign Het
Spink5 T A 18: 43,964,444 D19E probably damaging Het
Sult1d1 T A 5: 87,556,055 probably benign Het
Wdr59 G A 8: 111,492,733 L231F probably damaging 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
IGL02071:Patl1 APN 19 11939690 missense probably damaging 1.00
IGL02239:Patl1 APN 19 11937359 nonsense probably null
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
R7040:Patl1 UTSW 19 11929954 missense possibly damaging 0.94
R7387:Patl1 UTSW 19 11933730 missense probably benign 0.01
Posted On2015-04-16