Incidental Mutation 'R5321:Patl1'
ID 406128
Institutional Source Beutler Lab
Gene Symbol Patl1
Ensembl Gene ENSMUSG00000046139
Gene Name protein associated with topoisomerase II homolog 1 (yeast)
Synonyms Pat1b
MMRRC Submission 042904-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.552) question?
Stock # R5321 (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 11898785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 160 (Q160R)
Ref Sequence ENSEMBL: ENSMUSP00000060398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061618]
AlphaFold Q3TC46
Predicted Effect probably damaging
Transcript: ENSMUST00000061618
AA Change: Q160R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000060398
Gene: ENSMUSG00000046139
AA Change: Q160R

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: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,218,651 (GRCm39) F72L probably benign Het
Btrc G A 19: 45,496,197 (GRCm39) V211M probably damaging Het
Col6a5 A T 9: 105,805,664 (GRCm39) Y1081N unknown Het
Cryzl1 T C 16: 91,504,118 (GRCm39) Y109C probably benign Het
Dlec1 T A 9: 118,941,669 (GRCm39) S352T probably benign Het
Dzip3 T G 16: 48,778,038 (GRCm39) T349P possibly damaging Het
Endou A G 15: 97,618,913 (GRCm39) V37A probably damaging Het
Exosc1 A T 19: 41,912,499 (GRCm39) C129* probably null Het
Flywch1 C G 17: 23,975,625 (GRCm39) R539P probably damaging Het
Gm14410 G A 2: 176,885,298 (GRCm39) T322I probably damaging Het
Lcor G T 19: 41,573,643 (GRCm39) W799C probably damaging Het
Lpin2 G A 17: 71,553,853 (GRCm39) V857M probably damaging Het
Or52ae9 T C 7: 103,389,862 (GRCm39) N195S probably damaging Het
Phtf1 C T 3: 103,910,827 (GRCm39) T606I probably benign Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Scrt1 T C 15: 76,403,370 (GRCm39) S207G unknown Het
Slc15a5 G T 6: 137,964,436 (GRCm39) N496K probably benign Het
Slc34a1 A T 13: 23,996,614 (GRCm39) I40F possibly damaging Het
Tdrd12 A C 7: 35,177,519 (GRCm39) V945G probably damaging Het
Tdrkh C A 3: 94,332,965 (GRCm39) L169I probably damaging Het
Tmem59l A G 8: 70,939,865 (GRCm39) C35R probably damaging Het
Tpte A T 8: 22,787,219 (GRCm39) R33* probably null Het
Trpv2 T A 11: 62,475,397 (GRCm39) L270H probably damaging Het
Utp18 A G 11: 93,757,260 (GRCm39) L468P probably damaging Het
Uxs1 A G 1: 43,844,805 (GRCm39) I51T probably damaging Het
Vmn1r20 C T 6: 57,409,427 (GRCm39) S251L probably benign Het
Vmn1r24 A T 6: 57,933,182 (GRCm39) L112* probably null Het
Vmn1r5 T C 6: 56,962,592 (GRCm39) L89P probably damaging Het
Vmn2r10 G T 5: 109,143,505 (GRCm39) A815E probably damaging Het
Zfp119a A T 17: 56,172,595 (GRCm39) L416H probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GGTTAACGCAAAGGAATTTTATGGG -3'
(R):5'- CCAATATCCTGGGCTGTGTAC -3'

Sequencing Primer
(F):5'- GGGAGTGATAAAATTGGTGTATGTAC -3'
(R):5'- ACGTTAATGAAAGGTACCTGTTGG -3'
Posted On 2016-07-22