Incidental Mutation 'IGL01293:Patl2'
ID 72986
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Patl2
Ensembl Gene ENSMUSG00000027233
Gene Name protein associated with topoisomerase II homolog 2 (yeast)
Synonyms Pat1a, 4930424G05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # IGL01293
Quality Score
Status
Chromosome 2
Chromosomal Location 121950589-122016670 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121954291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 427 (T427A)
Ref Sequence ENSEMBL: ENSMUSP00000028665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028665]
AlphaFold A2ARM1
Predicted Effect probably benign
Transcript: ENSMUST00000028665
AA Change: T427A

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000028665
Gene: ENSMUSG00000027233
AA Change: T427A

DomainStartEndE-ValueType
low complexity region 33 41 N/A INTRINSIC
low complexity region 143 165 N/A INTRINSIC
low complexity region 215 227 N/A INTRINSIC
Pfam:PAT1 247 490 6.7e-12 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,190,226 (GRCm39) V25A probably benign Het
Aadacl4fm5 G T 4: 144,504,159 (GRCm39) H331N probably benign Het
Aagab T C 9: 63,543,751 (GRCm39) V235A probably benign Het
Ash1l T C 3: 88,890,836 (GRCm39) V905A probably benign Het
Atrx A G X: 104,919,801 (GRCm39) S641P probably benign Het
Bnc1 T C 7: 81,624,237 (GRCm39) E330G probably damaging Het
Cenpq A T 17: 41,244,067 (GRCm39) S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 (GRCm39) M1K probably null Het
Cul2 A G 18: 3,419,426 (GRCm39) K196E probably damaging Het
Cyp2d10 A T 15: 82,287,210 (GRCm39) V471E possibly damaging Het
Efhc2 T A X: 17,073,934 (GRCm39) I469L probably benign Het
Fhod3 C T 18: 25,153,709 (GRCm39) probably benign Het
Gm1968 A G 16: 29,777,632 (GRCm39) noncoding transcript Het
Hpdl T A 4: 116,678,141 (GRCm39) T107S possibly damaging Het
Il1rl1 G A 1: 40,485,376 (GRCm39) G276D possibly damaging Het
Irgq A G 7: 24,233,149 (GRCm39) D330G probably damaging Het
Kdm4b A G 17: 56,660,019 (GRCm39) D62G probably benign Het
Lama2 T C 10: 27,107,632 (GRCm39) T793A probably benign Het
Lrrk2 T C 15: 91,610,340 (GRCm39) F691L probably benign Het
Macf1 C T 4: 123,365,104 (GRCm39) G1654E probably benign Het
Mgat4c A T 10: 102,224,086 (GRCm39) Y100F probably benign Het
Ncapg A G 5: 45,839,196 (GRCm39) N532S probably benign Het
Nfkb1 T C 3: 135,296,600 (GRCm39) D782G probably damaging Het
Nthl1 G T 17: 24,857,683 (GRCm39) C294F probably damaging Het
Obp2b A G 2: 25,627,719 (GRCm39) H45R probably benign Het
Olfm1 A G 2: 28,104,715 (GRCm39) E156G probably damaging Het
Or14j2 A G 17: 37,886,308 (GRCm39) I2T probably benign Het
Or7g29 C A 9: 19,286,632 (GRCm39) A182S probably benign Het
Otud6b A G 4: 14,822,682 (GRCm39) probably benign Het
Pdzd8 T A 19: 59,288,218 (GRCm39) R1061W probably damaging Het
Plk3 A T 4: 116,990,194 (GRCm39) L137* probably null Het
Rps6ka6 T C X: 110,360,059 (GRCm39) probably benign Het
Shank1 T C 7: 44,003,660 (GRCm39) V1784A possibly damaging Het
Smc1b A T 15: 85,016,099 (GRCm39) S14T probably damaging Het
Sox4 C A 13: 29,136,664 (GRCm39) R114L probably damaging Het
Speg C T 1: 75,364,746 (GRCm39) R221W probably damaging Het
Tram1l1 T C 3: 124,115,788 (GRCm39) V316A probably benign Het
Virma G T 4: 11,521,114 (GRCm39) K840N probably damaging Het
Vmn1r49 A T 6: 90,049,394 (GRCm39) S203T probably damaging Het
Wdr1 T C 5: 38,686,886 (GRCm39) T293A probably benign Het
Xirp2 C T 2: 67,345,528 (GRCm39) P2590S possibly damaging Het
Zfp106 T C 2: 120,365,516 (GRCm39) Y297C possibly damaging Het
Zfp128 A G 7: 12,625,351 (GRCm39) *573W probably null Het
Zfp575 G A 7: 24,285,182 (GRCm39) P153L probably damaging Het
Other mutations in Patl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01780:Patl2 APN 2 121,952,327 (GRCm39) missense probably damaging 1.00
IGL02604:Patl2 APN 2 121,955,814 (GRCm39) missense possibly damaging 0.80
IGL02713:Patl2 APN 2 121,956,328 (GRCm39) missense probably benign 0.01
IGL02990:Patl2 APN 2 121,954,978 (GRCm39) critical splice acceptor site probably null
FR4304:Patl2 UTSW 2 121,956,616 (GRCm39) small insertion probably benign
FR4548:Patl2 UTSW 2 121,956,616 (GRCm39) small insertion probably benign
FR4737:Patl2 UTSW 2 121,956,626 (GRCm39) small insertion probably benign
FR4737:Patl2 UTSW 2 121,956,625 (GRCm39) nonsense probably null
FR4737:Patl2 UTSW 2 121,956,617 (GRCm39) small insertion probably benign
FR4976:Patl2 UTSW 2 121,956,625 (GRCm39) small insertion probably benign
FR4976:Patl2 UTSW 2 121,956,622 (GRCm39) small insertion probably benign
FR4976:Patl2 UTSW 2 121,956,620 (GRCm39) small insertion probably benign
FR4976:Patl2 UTSW 2 121,956,626 (GRCm39) small insertion probably benign
R0001:Patl2 UTSW 2 121,956,191 (GRCm39) splice site probably benign
R0002:Patl2 UTSW 2 121,956,191 (GRCm39) splice site probably benign
R0540:Patl2 UTSW 2 121,957,150 (GRCm39) missense probably benign
R0570:Patl2 UTSW 2 121,955,789 (GRCm39) missense probably damaging 0.99
R0607:Patl2 UTSW 2 121,957,150 (GRCm39) missense probably benign
R1463:Patl2 UTSW 2 121,954,216 (GRCm39) missense probably benign 0.38
R2992:Patl2 UTSW 2 121,956,235 (GRCm39) missense probably damaging 0.97
R4329:Patl2 UTSW 2 121,958,018 (GRCm39) missense probably benign 0.01
R4583:Patl2 UTSW 2 121,957,226 (GRCm39) missense probably benign 0.00
R4737:Patl2 UTSW 2 121,955,787 (GRCm39) missense probably damaging 1.00
R4965:Patl2 UTSW 2 121,959,329 (GRCm39) nonsense probably null
R5091:Patl2 UTSW 2 121,954,283 (GRCm39) missense probably benign 0.01
R5256:Patl2 UTSW 2 121,959,368 (GRCm39) missense probably damaging 1.00
R5450:Patl2 UTSW 2 121,955,762 (GRCm39) missense probably benign 0.00
R5990:Patl2 UTSW 2 121,954,965 (GRCm39) missense probably damaging 1.00
R6028:Patl2 UTSW 2 121,956,618 (GRCm39) missense possibly damaging 0.76
R6107:Patl2 UTSW 2 121,957,967 (GRCm39) missense probably damaging 0.98
R6597:Patl2 UTSW 2 122,016,645 (GRCm39) start gained probably benign
R6969:Patl2 UTSW 2 121,959,410 (GRCm39) missense possibly damaging 0.52
R7131:Patl2 UTSW 2 121,952,263 (GRCm39) critical splice donor site probably null
R7436:Patl2 UTSW 2 121,958,006 (GRCm39) missense probably benign 0.00
R7718:Patl2 UTSW 2 121,957,255 (GRCm39) splice site probably null
R7852:Patl2 UTSW 2 122,009,590 (GRCm39) unclassified probably benign
R8397:Patl2 UTSW 2 121,955,754 (GRCm39) missense probably damaging 1.00
R9515:Patl2 UTSW 2 121,955,374 (GRCm39) missense probably benign 0.09
R9699:Patl2 UTSW 2 121,955,591 (GRCm39) missense probably damaging 1.00
R9766:Patl2 UTSW 2 121,954,212 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07