Incidental Mutation 'IGL02071:Patl1'
ID 185807
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Patl1
Ensembl Gene ENSMUSG00000046139
Gene Name protein associated with topoisomerase II homolog 1 (yeast)
Synonyms Pat1b
Accession Numbers
Essential gene? Possibly essential (E-score: 0.552) question?
Stock # IGL02071
Quality Score
Status
Chromosome 19
Chromosomal Location 11889763-11922455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 11917054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 634 (P634T)
Ref Sequence ENSEMBL: ENSMUSP00000060398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061618]
AlphaFold Q3TC46
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: 8,400,676 (GRCm39) R92C probably damaging Het
Adam29 C A 8: 56,324,589 (GRCm39) V622L possibly damaging Het
Bzw2 T C 12: 36,157,502 (GRCm39) H321R probably benign Het
C2cd2 C T 16: 97,671,432 (GRCm39) R489Q probably damaging Het
Cdh23 G A 10: 60,359,339 (GRCm39) T253I possibly damaging Het
Col4a3 T G 1: 82,638,608 (GRCm39) probably null Het
D630039A03Rik T C 4: 57,910,309 (GRCm39) T168A possibly damaging Het
Dnajc19 A G 3: 34,132,914 (GRCm39) L97P possibly damaging Het
Dpep2 A T 8: 106,711,776 (GRCm39) H550Q probably benign Het
Dvl2 C A 11: 69,895,626 (GRCm39) probably null Het
Fam234b A G 6: 135,204,149 (GRCm39) probably null Het
Fxyd5 A G 7: 30,739,613 (GRCm39) V32A possibly damaging Het
Itprid1 C A 6: 55,944,710 (GRCm39) S477* probably null Het
Mak16 A T 8: 31,650,557 (GRCm39) S251T probably benign Het
Med10 T C 13: 69,963,747 (GRCm39) V116A probably benign Het
Mycbp2 G A 14: 103,392,343 (GRCm39) R50* probably null Het
Nckap5 G A 1: 125,909,305 (GRCm39) P272L probably damaging Het
Nf1 T A 11: 79,334,947 (GRCm39) V933E possibly damaging Het
Nrxn2 T A 19: 6,531,783 (GRCm39) V749E probably damaging Het
Or51e2 A C 7: 102,391,355 (GRCm39) V285G probably damaging Het
Or5al1 C A 2: 85,990,219 (GRCm39) R165L probably benign Het
Osbpl9 T C 4: 108,929,176 (GRCm39) Y417C probably damaging Het
Otop1 G A 5: 38,445,327 (GRCm39) A162T probably damaging Het
Ppl A T 16: 4,930,936 (GRCm39) S28T probably benign Het
Prkar2b C T 12: 32,013,016 (GRCm39) G367R probably damaging Het
Rbl2 G A 8: 91,828,826 (GRCm39) V576I probably damaging Het
Rgl3 C T 9: 21,899,559 (GRCm39) A53T probably benign Het
Rp1 T A 1: 4,415,533 (GRCm39) I1860F possibly damaging Het
Sbno2 A T 10: 79,896,475 (GRCm39) D877E probably damaging Het
Sectm1b C T 11: 120,946,761 (GRCm39) V45I probably damaging Het
Sfmbt2 G A 2: 10,582,763 (GRCm39) V741I probably benign Het
Sugt1 T A 14: 79,847,723 (GRCm39) L191* probably null Het
Tcf21 A T 10: 22,693,709 (GRCm39) V156E possibly damaging Het
Tep1 T A 14: 51,071,506 (GRCm39) R2046S possibly damaging Het
Tmem181a T C 17: 6,347,531 (GRCm39) F241S probably damaging Het
Traf6 G A 2: 101,527,138 (GRCm39) C296Y probably benign Het
Trim40 A G 17: 37,200,070 (GRCm39) S3P probably benign Het
Ttll2 A T 17: 7,619,130 (GRCm39) Y266N probably damaging Het
Vps54 A G 11: 21,225,071 (GRCm39) N177S probably null Het
Other mutations in Patl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Patl1 APN 19 11,907,251 (GRCm39) missense probably benign
IGL01396:Patl1 APN 19 11,901,247 (GRCm39) missense probably damaging 0.98
IGL02239:Patl1 APN 19 11,914,723 (GRCm39) nonsense probably null
IGL02306:Patl1 APN 19 11,920,250 (GRCm39) missense possibly damaging 0.47
IGL02468:Patl1 APN 19 11,909,574 (GRCm39) missense probably damaging 1.00
IGL03193:Patl1 APN 19 11,898,204 (GRCm39) missense possibly damaging 0.49
R0382:Patl1 UTSW 19 11,902,596 (GRCm39) splice site probably null
R1015:Patl1 UTSW 19 11,897,737 (GRCm39) missense probably benign 0.00
R1871:Patl1 UTSW 19 11,902,596 (GRCm39) splice site probably benign
R1969:Patl1 UTSW 19 11,898,782 (GRCm39) missense probably benign
R2012:Patl1 UTSW 19 11,917,181 (GRCm39) missense probably damaging 1.00
R2058:Patl1 UTSW 19 11,909,511 (GRCm39) missense possibly damaging 0.87
R2859:Patl1 UTSW 19 11,901,195 (GRCm39) missense probably damaging 1.00
R4043:Patl1 UTSW 19 11,920,314 (GRCm39) missense probably damaging 1.00
R4079:Patl1 UTSW 19 11,908,994 (GRCm39) missense probably damaging 1.00
R4647:Patl1 UTSW 19 11,891,798 (GRCm39) missense probably damaging 1.00
R4735:Patl1 UTSW 19 11,899,869 (GRCm39) missense probably benign
R4830:Patl1 UTSW 19 11,902,515 (GRCm39) missense probably benign 0.01
R5321:Patl1 UTSW 19 11,898,785 (GRCm39) missense probably damaging 0.99
R5322:Patl1 UTSW 19 11,898,223 (GRCm39) nonsense probably null
R5460:Patl1 UTSW 19 11,913,082 (GRCm39) missense possibly damaging 0.80
R5855:Patl1 UTSW 19 11,898,880 (GRCm39) missense probably damaging 0.99
R5933:Patl1 UTSW 19 11,917,136 (GRCm39) missense probably benign 0.08
R6020:Patl1 UTSW 19 11,914,718 (GRCm39) missense probably damaging 1.00
R6261:Patl1 UTSW 19 11,897,695 (GRCm39) missense probably damaging 1.00
R6317:Patl1 UTSW 19 11,898,242 (GRCm39) missense probably damaging 1.00
R7040:Patl1 UTSW 19 11,907,318 (GRCm39) missense possibly damaging 0.94
R7387:Patl1 UTSW 19 11,911,094 (GRCm39) missense probably benign 0.01
R8754:Patl1 UTSW 19 11,899,898 (GRCm39) missense probably damaging 0.97
R8936:Patl1 UTSW 19 11,891,725 (GRCm39) missense probably damaging 1.00
R8984:Patl1 UTSW 19 11,898,760 (GRCm39) missense probably damaging 0.98
R9088:Patl1 UTSW 19 11,920,289 (GRCm39) missense possibly damaging 0.58
R9106:Patl1 UTSW 19 11,908,973 (GRCm39) missense probably damaging 0.97
R9309:Patl1 UTSW 19 11,913,082 (GRCm39) missense probably damaging 0.98
R9431:Patl1 UTSW 19 11,898,815 (GRCm39) missense probably damaging 1.00
R9499:Patl1 UTSW 19 11,897,728 (GRCm39) missense possibly damaging 0.84
Posted On 2014-05-07