Incidental Mutation 'R6732:Pusl1'
ID 530102
Institutional Source Beutler Lab
Gene Symbol Pusl1
Ensembl Gene ENSMUSG00000051557
Gene Name pseudouridylate synthase-like 1
Synonyms 2810021I11Rik
MMRRC Submission 044850-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R6732 (G1)
Quality Score 140.008
Status Validated
Chromosome 4
Chromosomal Location 155973314-155976231 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155975573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 87 (S87P)
Ref Sequence ENSEMBL: ENSMUSP00000095344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030901] [ENSMUST00000079031] [ENSMUST00000097737] [ENSMUST00000105584] [ENSMUST00000120794] [ENSMUST00000156460]
AlphaFold A2ADA5
Predicted Effect probably benign
Transcript: ENSMUST00000030901
SMART Domains Protein: ENSMUSP00000030901
Gene: ENSMUSG00000029034

DomainStartEndE-ValueType
Lactamase_B 16 233 3.38e-17 SMART
Beta-Casp 245 363 6.94e-37 SMART
Pfam:RMMBL 376 418 1.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079031
SMART Domains Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033

DomainStartEndE-ValueType
low complexity region 17 31 N/A INTRINSIC
PH 265 361 6.35e-16 SMART
low complexity region 377 391 N/A INTRINSIC
ArfGap 399 521 4.62e-56 SMART
low complexity region 554 566 N/A INTRINSIC
low complexity region 601 617 N/A INTRINSIC
low complexity region 628 650 N/A INTRINSIC
low complexity region 669 686 N/A INTRINSIC
ANK 696 725 3.91e-3 SMART
ANK 729 758 2.43e1 SMART
low complexity region 781 796 N/A INTRINSIC
low complexity region 797 809 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097737
AA Change: S87P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095344
Gene: ENSMUSG00000051557
AA Change: S87P

DomainStartEndE-ValueType
Pfam:PseudoU_synth_1 16 124 2.5e-12 PFAM
Pfam:PseudoU_synth_1 168 285 1.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105584
SMART Domains Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033

DomainStartEndE-ValueType
Pfam:BAR_3 3 236 4.1e-95 PFAM
PH 269 365 6.35e-16 SMART
low complexity region 381 395 N/A INTRINSIC
ArfGap 403 525 4.62e-56 SMART
low complexity region 558 570 N/A INTRINSIC
low complexity region 605 621 N/A INTRINSIC
low complexity region 632 654 N/A INTRINSIC
low complexity region 673 690 N/A INTRINSIC
ANK 700 729 3.91e-3 SMART
ANK 733 762 2.43e1 SMART
low complexity region 785 800 N/A INTRINSIC
low complexity region 801 813 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120794
SMART Domains Protein: ENSMUSP00000112656
Gene: ENSMUSG00000029034

DomainStartEndE-ValueType
Lactamase_B 16 211 6.42e-9 SMART
Beta-Casp 223 341 6.94e-37 SMART
Pfam:RMMBL 354 396 3.6e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142724
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129637
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135844
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137726
Predicted Effect probably benign
Transcript: ENSMUST00000156460
SMART Domains Protein: ENSMUSP00000118803
Gene: ENSMUSG00000029034

DomainStartEndE-ValueType
SCOP:d1smla_ 1 66 7e-7 SMART
PDB:2I7V|A 3 38 1e-9 PDB
Blast:Lactamase_B 16 66 4e-30 BLAST
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A G 2: 69,117,190 (GRCm39) I486T probably damaging Het
Abcc5 T C 16: 20,223,434 (GRCm39) N158S probably benign Het
AI182371 G T 2: 34,974,717 (GRCm39) probably benign Het
Ap1ar G A 3: 127,609,334 (GRCm39) Q96* probably null Het
Cd101 C T 3: 100,915,515 (GRCm39) S684N probably benign Het
Cdh16 T G 8: 105,345,165 (GRCm39) I375L probably benign Het
Chchd6 A G 6: 89,551,436 (GRCm39) V75A probably benign Het
Coro2a A T 4: 46,551,374 (GRCm39) N110K probably damaging Het
Cyp2c69 A G 19: 39,869,943 (GRCm39) V93A probably benign Het
Dnaaf9 A G 2: 130,652,740 (GRCm39) probably null Het
Egln3 C T 12: 54,227,427 (GRCm39) A235T probably benign Het
Fryl T C 5: 73,212,124 (GRCm39) T2335A probably damaging Het
Fzd3 T C 14: 65,473,252 (GRCm39) D172G probably benign Het
Galnt2 T A 8: 125,067,561 (GRCm39) W447R probably damaging Het
Iqce A G 5: 140,660,990 (GRCm39) L450P probably benign Het
Ly9 T C 1: 171,421,653 (GRCm39) T533A possibly damaging Het
Map3k19 A C 1: 127,751,969 (GRCm39) F257V probably benign Het
Mroh7 GTT GTTT 4: 106,537,910 (GRCm39) probably null Het
Or5ac20 A T 16: 59,104,314 (GRCm39) V182E probably benign Het
Pcdhb11 A T 18: 37,555,197 (GRCm39) I176F probably benign Het
Pigp A C 16: 94,166,300 (GRCm39) L96R probably damaging Het
Pkd1 A G 17: 24,788,387 (GRCm39) D715G probably damaging Het
Plxnd1 A C 6: 115,946,890 (GRCm39) L828R possibly damaging Het
Pramel15 C T 4: 144,099,743 (GRCm39) V341I probably benign Het
Psmd2 T A 16: 20,481,386 (GRCm39) S814T probably benign Het
Rgs3 T A 4: 62,521,180 (GRCm39) D34E probably benign Het
Rhof A G 5: 123,269,999 (GRCm39) F53L probably damaging Het
Sik3 C A 9: 46,123,851 (GRCm39) P1217T probably benign Het
Skic2 G A 17: 35,064,166 (GRCm39) R507* probably null Het
Slc14a2 A G 18: 78,235,389 (GRCm39) Y263H probably damaging Het
Slc26a4 C T 12: 31,576,599 (GRCm39) probably null Het
Smyd3 T G 1: 179,223,395 (GRCm39) H178P probably benign Het
Thada T C 17: 84,761,842 (GRCm39) probably null Het
Top1mt A C 15: 75,541,337 (GRCm39) probably null Het
Trim17 A T 11: 58,861,851 (GRCm39) probably null Het
Ttn A T 2: 76,770,395 (GRCm39) F2599I possibly damaging Het
Tuba3a A T 6: 125,258,608 (GRCm39) D127E probably benign Het
Ucp1 A G 8: 84,018,106 (GRCm39) T68A probably benign Het
Vmn2r69 A G 7: 85,060,351 (GRCm39) V411A probably benign Het
Vmn2r74 A T 7: 85,606,758 (GRCm39) V196E probably damaging Het
Wdr59 T C 8: 112,227,684 (GRCm39) Y131C probably damaging Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zbtb21 G T 16: 97,752,282 (GRCm39) S667Y probably damaging Het
Other mutations in Pusl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01765:Pusl1 APN 4 155,974,170 (GRCm39) missense probably damaging 0.96
IGL02056:Pusl1 APN 4 155,975,029 (GRCm39) missense probably benign 0.05
R4377:Pusl1 UTSW 4 155,975,037 (GRCm39) missense probably benign
R4501:Pusl1 UTSW 4 155,973,999 (GRCm39) missense probably benign 0.00
R4893:Pusl1 UTSW 4 155,973,998 (GRCm39) missense probably benign 0.20
R4911:Pusl1 UTSW 4 155,975,899 (GRCm39) unclassified probably benign
R6029:Pusl1 UTSW 4 155,973,920 (GRCm39) missense probably damaging 1.00
R6155:Pusl1 UTSW 4 155,975,005 (GRCm39) missense probably damaging 0.96
R9259:Pusl1 UTSW 4 155,975,639 (GRCm39) missense probably damaging 1.00
R9718:Pusl1 UTSW 4 155,976,094 (GRCm39) missense probably benign
Z1177:Pusl1 UTSW 4 155,975,662 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTATGCCCAACTGTCCACAC -3'
(R):5'- TGAACTTCCTGGAGGTGAGGAC -3'

Sequencing Primer
(F):5'- TGTCCACACAGCACTATGG -3'
(R):5'- AGTCGGCAGCTCCAACC -3'
Posted On 2018-08-01