Incidental Mutation 'R5855:Patl1'
ID 454888
Institutional Source Beutler Lab
Gene Symbol Patl1
Ensembl Gene ENSMUSG00000046139
Gene Name protein associated with topoisomerase II homolog 1 (yeast)
Synonyms Pat1b
MMRRC Submission 043229-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.552) question?
Stock # R5855 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 11889763-11922455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11898880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 192 (I192V)
Ref Sequence ENSEMBL: ENSMUSP00000060398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061618]
AlphaFold Q3TC46
Predicted Effect probably damaging
Transcript: ENSMUST00000061618
AA Change: I192V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000060398
Gene: ENSMUSG00000046139
AA Change: I192V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198985
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 96.8%
  • 20x: 89.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T G 7: 131,026,328 (GRCm39) L57R probably damaging Het
Bmpr1b G A 3: 141,577,146 (GRCm39) T55M possibly damaging Het
Cep350 G A 1: 155,829,508 (GRCm39) T132I probably benign Het
Cops4 A T 5: 100,695,280 (GRCm39) M400L probably benign Het
Cul1 G A 6: 47,500,147 (GRCm39) D653N probably benign Het
Cyp3a13 C G 5: 137,917,318 (GRCm39) L36F probably damaging Het
Dcaf10 T C 4: 45,342,558 (GRCm39) F131L probably benign Het
Dgkh T C 14: 78,861,944 (GRCm39) probably null Het
Igll1 C T 16: 16,678,921 (GRCm39) V130M probably damaging Het
Kif2c C T 4: 117,039,739 (GRCm39) probably benign Het
Klra7 T C 6: 130,195,921 (GRCm39) D262G possibly damaging Het
Lrrc27 T C 7: 138,798,251 (GRCm39) probably benign Het
Maf A G 8: 116,432,531 (GRCm39) S358P probably benign Het
Map1a A G 2: 121,134,155 (GRCm39) D1419G possibly damaging Het
Map3k1 G A 13: 111,892,513 (GRCm39) A914V probably benign Het
Naa25 T G 5: 121,561,755 (GRCm39) L436R possibly damaging Het
Ndc1 T C 4: 107,240,904 (GRCm39) I294T probably damaging Het
Nek1 A C 8: 61,469,306 (GRCm39) D121A probably damaging Het
Nfil3 C T 13: 53,122,746 (GRCm39) G53R probably benign Het
Or10h28 T C 17: 33,488,310 (GRCm39) V204A possibly damaging Het
Parp14 A T 16: 35,661,297 (GRCm39) Y1550* probably null Het
Pax3 G A 1: 78,098,288 (GRCm39) T367I probably damaging Het
Pla2g4a C T 1: 149,755,814 (GRCm39) V208M probably damaging Het
Prdm10 A T 9: 31,248,619 (GRCm39) K347M probably damaging Het
Prkd1 A T 12: 50,439,699 (GRCm39) M376K probably benign Het
Prkg1 C T 19: 30,872,094 (GRCm39) V219I possibly damaging Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Scn3a T C 2: 65,295,074 (GRCm39) I1550V possibly damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Sox4 T C 13: 29,136,979 (GRCm39) E9G probably damaging Het
Spon1 T A 7: 113,628,307 (GRCm39) D354E probably damaging Het
Stat2 T A 10: 128,119,363 (GRCm39) L450H probably damaging Het
Tek T A 4: 94,741,790 (GRCm39) M849K probably damaging Het
Tmem63c G A 12: 87,122,500 (GRCm39) D433N probably damaging Het
Tnpo3 G A 6: 29,589,032 (GRCm39) T106I probably damaging Het
Tns1 G T 1: 73,957,192 (GRCm39) A1674D possibly damaging Het
Trim8 T C 19: 46,503,849 (GRCm39) V467A possibly damaging Het
Trmo T A 4: 46,382,568 (GRCm39) H183L probably benign Het
Trpm1 C A 7: 63,918,710 (GRCm39) C683* probably null Het
Vsig10 T G 5: 117,476,335 (GRCm39) L263R probably damaging Het
Zfp874a A T 13: 67,590,812 (GRCm39) Y291N probably benign 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
IGL02071:Patl1 APN 19 11,917,054 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AAGGATGACTTTTACTGAGTGTGAG -3'
(R):5'- TCTGCTAATGTACCCGGCAG -3'

Sequencing Primer
(F):5'- ACATCACAAGTAATTTCTCTGTATCG -3'
(R):5'- TTTCTCCCCCAGTTAAAAGGTAGCAG -3'
Posted On 2017-02-10