Incidental Mutation 'R4157:Pasd1'
ID 315611
Institutional Source Beutler Lab
Gene Symbol Pasd1
Ensembl Gene ENSMUSG00000073130
Gene Name PAS domain containing repressor 1
Synonyms Gm1141, LOC382221
MMRRC Submission 041000-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R4157 (G1)
Quality Score 225
Status Not validated
Chromosome X
Chromosomal Location 70976044-70984477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70983161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 378 (C378R)
Ref Sequence ENSEMBL: ENSMUSP00000099034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101495]
AlphaFold J9JI72
Predicted Effect possibly damaging
Transcript: ENSMUST00000101495
AA Change: C378R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099034
Gene: ENSMUSG00000073130
AA Change: C378R

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
low complexity region 48 73 N/A INTRINSIC
low complexity region 147 163 N/A INTRINSIC
low complexity region 255 267 N/A INTRINSIC
low complexity region 284 291 N/A INTRINSIC
low complexity region 419 432 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154780
SMART Domains Protein: ENSMUSP00000114284
Gene: ENSMUSG00000073130

DomainStartEndE-ValueType
low complexity region 50 60 N/A INTRINSIC
low complexity region 90 105 N/A INTRINSIC
low complexity region 110 135 N/A INTRINSIC
low complexity region 209 225 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 95% (52/55)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 G T 9: 90,070,414 (GRCm39) R585L probably damaging Het
Adamtsl5 C T 10: 80,181,156 (GRCm39) R75Q probably null Het
Ankrd26 T A 6: 118,484,782 (GRCm39) Q1485L probably damaging Het
Apbb2 G A 5: 66,459,947 (GRCm39) R717* probably null Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atp8b5 A G 4: 43,365,591 (GRCm39) E735G probably damaging Het
Bcl11b A T 12: 107,883,684 (GRCm39) probably null Het
C4b A G 17: 34,961,829 (GRCm39) I139T probably damaging Het
Ccpg1 C A 9: 72,919,449 (GRCm39) Q355K probably benign Het
Cdk8 A T 5: 146,236,259 (GRCm39) probably benign Het
Ctif T C 18: 75,568,341 (GRCm39) H599R probably benign Het
Degs1 A G 1: 182,110,192 (GRCm39) I26T possibly damaging Het
Dnajc4 T C 19: 6,967,208 (GRCm39) N72S probably damaging Het
Ecd A G 14: 20,374,632 (GRCm39) S503P probably damaging Het
Gm3486 G A 14: 41,208,343 (GRCm39) L123F probably benign Het
Inpp5f C T 7: 128,281,423 (GRCm39) probably benign Het
Irx4 A T 13: 73,413,662 (GRCm39) Q44L probably benign Het
Krt9 T A 11: 100,079,475 (GRCm39) Y639F unknown Het
Lgals9 C A 11: 78,863,933 (GRCm39) V71L possibly damaging Het
Mdga1 T C 17: 30,052,317 (GRCm39) N143S probably benign Het
Ndufs4 A T 13: 114,444,390 (GRCm39) S129R probably benign Het
Nup50l C G 6: 96,142,264 (GRCm39) W260S possibly damaging Het
Oog2 A G 4: 143,920,523 (GRCm39) probably benign Het
Orm2 T A 4: 63,282,222 (GRCm39) F133L probably null Het
Pidd1 A G 7: 141,021,279 (GRCm39) V333A possibly damaging Het
Ppp4r3a A G 12: 101,021,878 (GRCm39) F341L probably damaging Het
Rab11fip1 A T 8: 27,642,175 (GRCm39) S875T probably damaging Het
Rpap1 C T 2: 119,604,660 (GRCm39) R416H probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Snx22 T C 9: 65,975,493 (GRCm39) Y92C probably damaging Het
Srgn A G 10: 62,333,613 (GRCm39) F55L possibly damaging Het
Swt1 A T 1: 151,278,795 (GRCm39) V454E probably damaging Het
Tmem54 G A 4: 129,004,504 (GRCm39) R151Q probably damaging Het
Tns1 T A 1: 73,953,790 (GRCm39) N1848Y probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Top2b A G 14: 16,384,491 (GRCm38) N80S probably benign Het
Trim7 T C 11: 48,738,920 (GRCm39) V313A probably benign Het
Uaca A G 9: 60,779,035 (GRCm39) S1141G probably benign Het
Ubr3 T C 2: 69,790,013 (GRCm39) probably null Het
Utp20 A G 10: 88,597,729 (GRCm39) V121A probably benign Het
Wdr20 G A 12: 110,704,608 (GRCm39) R49H possibly damaging Het
Ylpm1 T C 12: 85,104,177 (GRCm39) probably benign Het
Zfp398 A T 6: 47,812,843 (GRCm39) T5S probably benign Het
Zfp410 G A 12: 84,374,206 (GRCm39) R181H probably damaging Het
Zfp523 C T 17: 28,421,257 (GRCm39) A367V probably benign Het
Zfp748 G A 13: 67,690,225 (GRCm39) S345L possibly damaging Het
Other mutations in Pasd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0128:Pasd1 UTSW X 70,983,161 (GRCm39) missense possibly damaging 0.83
R0130:Pasd1 UTSW X 70,983,161 (GRCm39) missense possibly damaging 0.83
R0131:Pasd1 UTSW X 70,983,161 (GRCm39) missense possibly damaging 0.83
R0629:Pasd1 UTSW X 70,982,379 (GRCm39) missense possibly damaging 0.90
R4156:Pasd1 UTSW X 70,983,161 (GRCm39) missense possibly damaging 0.83
R4416:Pasd1 UTSW X 70,983,225 (GRCm39) missense possibly damaging 0.83
R4417:Pasd1 UTSW X 70,983,225 (GRCm39) missense possibly damaging 0.83
R6428:Pasd1 UTSW X 70,983,126 (GRCm39) unclassified probably benign
Predicted Primers
Posted On 2015-05-14