Incidental Mutation 'R4416:Pasd1'
ID 326861
Institutional Source Beutler Lab
Gene Symbol Pasd1
Ensembl Gene ENSMUSG00000073130
Gene Name PAS domain containing repressor 1
Synonyms Gm1141, LOC382221
MMRRC Submission 041137-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R4416 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 70976044-70984477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 70983225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 399 (C399Y)
Ref Sequence ENSEMBL: ENSMUSP00000099034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101495]
AlphaFold J9JI72
Predicted Effect possibly damaging
Transcript: ENSMUST00000101495
AA Change: C399Y

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099034
Gene: ENSMUSG00000073130
AA Change: C399Y

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T A 15: 59,888,272 (GRCm39) E56V possibly damaging Het
Adam28 A G 14: 68,859,531 (GRCm39) probably null Het
Bnc1 G T 7: 81,618,708 (GRCm39) H786N probably benign Het
Cav1 T A 6: 17,339,248 (GRCm39) M100K probably benign Het
Cdk9 A G 2: 32,598,084 (GRCm39) L273P probably damaging Het
Celsr1 A G 15: 85,812,200 (GRCm39) V2065A probably damaging Het
Cyp2c54 T C 19: 40,026,703 (GRCm39) Q484R probably benign Het
Elfn1 T C 5: 139,957,949 (GRCm39) S318P possibly damaging Het
Fbxl6 T C 15: 76,421,924 (GRCm39) E205G possibly damaging Het
Fhip2a G T 19: 57,373,829 (GRCm39) probably null Het
Frmd6 T A 12: 70,924,023 (GRCm39) Y94N probably benign Het
Gdpd1 A T 11: 86,926,114 (GRCm39) V277D probably benign Het
Grik1 C A 16: 87,848,349 (GRCm39) V140L probably benign Het
Grpel1 A G 5: 36,628,616 (GRCm39) H175R probably damaging Het
Gtdc1 G T 2: 44,465,602 (GRCm39) probably null Het
Hivep2 A T 10: 14,004,914 (GRCm39) Q504L probably benign Het
Icos A T 1: 61,033,849 (GRCm39) I160L probably benign Het
Igsf9b G T 9: 27,234,213 (GRCm39) C442F probably damaging Het
Itga10 T C 3: 96,565,562 (GRCm39) V1062A possibly damaging Het
Lrp1b C T 2: 40,553,679 (GRCm39) V386I unknown Het
Lrp2 G T 2: 69,357,575 (GRCm39) F409L probably benign Het
Nadk T G 4: 155,672,183 (GRCm39) Y291* probably null Het
Nudt6 A T 3: 37,459,378 (GRCm39) probably null Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Or2ag1b G A 7: 106,288,218 (GRCm39) T240I probably benign Het
Or6c70 T C 10: 129,709,826 (GRCm39) T267A probably benign Het
Or8d6 A G 9: 39,853,724 (GRCm39) H56R probably damaging Het
Pds5b C T 5: 150,659,861 (GRCm39) P275S probably damaging Het
Pdzd7 T A 19: 45,029,019 (GRCm39) E117V probably damaging Het
Pik3ca T C 3: 32,515,679 (GRCm39) V784A probably damaging Het
Polr3e T C 7: 120,538,280 (GRCm39) probably null Het
Rab3gap2 A T 1: 185,014,544 (GRCm39) D1231V probably benign Het
Rapgef2 C A 3: 78,976,364 (GRCm39) G1481* probably null Het
Rho G A 6: 115,912,191 (GRCm39) V76I probably benign Het
Rrm1 A G 7: 102,097,008 (GRCm39) D96G probably benign Het
Slc35b2 G A 17: 45,877,355 (GRCm39) V161M probably benign Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Srp9 A T 1: 181,958,976 (GRCm39) M50L probably benign Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Sult1d1 A G 5: 87,706,435 (GRCm39) F169S probably damaging Het
Tmem63c C G 12: 87,128,676 (GRCm39) T567R probably benign Het
Tmf1 G T 6: 97,155,949 (GRCm39) F12L probably damaging Het
Ush2a T C 1: 188,089,071 (GRCm39) I342T probably damaging Het
Veph1 A T 3: 65,968,606 (GRCm39) N712K probably damaging Het
Vti1a T G 19: 55,369,380 (GRCm39) S91A probably benign 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
R4157:Pasd1 UTSW X 70,983,161 (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 PCR Primer
(F):5'- GGCTTATGTCACTGCTCCAG -3'
(R):5'- AGATGATTGAGACCCCTAACCC -3'

Sequencing Primer
(F):5'- CTCTTACAGACGTTGGGAGACTC -3'
(R):5'- CTAACCCTGATGACTGAGAAGTAC -3'
Posted On 2015-07-07