Incidental Mutation 'R4505:Pithd1'
ID 331964
Institutional Source Beutler Lab
Gene Symbol Pithd1
Ensembl Gene ENSMUSG00000028669
Gene Name PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1
Synonyms 1110049F12Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.455) question?
Stock # R4505 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 135702913-135714555 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135706144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 37 (N37S)
Ref Sequence ENSEMBL: ENSMUSP00000117150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105851] [ENSMUST00000123404] [ENSMUST00000147458]
AlphaFold Q8BWR2
Predicted Effect probably benign
Transcript: ENSMUST00000105851
AA Change: N130S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000101477
Gene: ENSMUSG00000028669
AA Change: N130S

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Pfam:PITH 31 175 1.1e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123404
AA Change: N37S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000117150
Gene: ENSMUSG00000028669
AA Change: N37S

DomainStartEndE-ValueType
Pfam:PITH 1 65 2.8e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133438
Predicted Effect probably benign
Transcript: ENSMUST00000147458
AA Change: N37S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000119005
Gene: ENSMUSG00000028669
AA Change: N37S

DomainStartEndE-ValueType
Pfam:PITH 1 83 8.9e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150885
Meta Mutation Damage Score 0.0580 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A T 16: 20,152,445 (GRCm39) I1367N probably damaging Het
Acbd4 A G 11: 102,995,605 (GRCm39) probably benign Het
Adarb2 A T 13: 8,747,727 (GRCm39) S428C probably damaging Het
Atl3 T A 19: 7,498,184 (GRCm39) D193E probably benign Het
Bhlhe22 T C 3: 18,109,123 (GRCm39) S58P probably benign Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Epha10 A G 4: 124,809,480 (GRCm39) probably benign Het
Farp2 A T 1: 93,546,732 (GRCm39) N917I probably damaging Het
Fbh1 A G 2: 11,753,828 (GRCm39) V838A possibly damaging Het
Fras1 T A 5: 96,929,207 (GRCm39) N3870K probably damaging Het
Gm6632 C T 5: 59,211,821 (GRCm39) noncoding transcript Het
Gpr20 T C 15: 73,568,321 (GRCm39) T23A probably benign Het
Grb14 A C 2: 64,852,912 (GRCm39) V26G probably damaging Het
H2-T5 A T 17: 36,472,372 (GRCm39) probably benign Het
Itgb4 G A 11: 115,874,087 (GRCm39) silent Het
Jak1 T C 4: 101,011,800 (GRCm39) T1101A probably benign Het
Kcnq3 A T 15: 65,867,191 (GRCm39) Y817* probably null Het
Krtcap2 A G 3: 89,153,563 (GRCm39) probably benign Het
Lhx5 C A 5: 120,578,073 (GRCm39) H298N possibly damaging Het
Lrig3 C T 10: 125,849,216 (GRCm39) P979S probably benign Het
Map3k13 A G 16: 21,740,928 (GRCm39) S752G probably benign Het
Map4 T C 9: 109,861,253 (GRCm39) S206P probably benign Het
Mon2 A G 10: 122,845,494 (GRCm39) S1405P probably damaging Het
Mvb12a G T 8: 71,996,103 (GRCm39) A86S probably benign Het
Or5p62 T C 7: 107,771,175 (GRCm39) I259V probably benign Het
Or8a1b C T 9: 37,622,760 (GRCm39) V272I probably benign Het
Piwil4 T C 9: 14,637,259 (GRCm39) T352A probably damaging Het
Prb1a T A 6: 132,184,533 (GRCm39) R367* probably null Het
Psmb4 A C 3: 94,793,456 (GRCm39) Y142D probably damaging Het
Ptprs T C 17: 56,758,678 (GRCm39) N181S possibly damaging Het
Rcbtb2 T C 14: 73,411,345 (GRCm39) L370P probably damaging Het
Ric8a A G 7: 140,438,429 (GRCm39) I223V probably benign Het
Runx1t1 G T 4: 13,889,676 (GRCm39) C535F probably damaging Het
Samd4b A G 7: 28,106,925 (GRCm39) M329T probably benign Het
Serpinb9g T A 13: 33,670,546 (GRCm39) F11L probably damaging Het
Slc25a51 C T 4: 45,399,768 (GRCm39) V141M probably benign Het
Sp110 T G 1: 85,516,894 (GRCm39) Q201P probably damaging Het
Taar3 A G 10: 23,825,471 (GRCm39) I6V possibly damaging Het
Tjp2 T C 19: 24,086,195 (GRCm39) T776A possibly damaging Het
Tmc1 C T 19: 20,845,738 (GRCm39) V162I probably benign Het
Upf1 G A 8: 70,790,216 (GRCm39) R637C probably damaging Het
Ush2a A G 1: 188,460,793 (GRCm39) T2685A possibly damaging Het
Vmn2r102 C T 17: 19,880,845 (GRCm39) T62I probably benign Het
Vps13c A T 9: 67,846,316 (GRCm39) Q2128L probably benign Het
Zfp26 T C 9: 20,353,561 (GRCm39) E76G probably benign Het
Zfp28 T C 7: 6,397,160 (GRCm39) S532P probably damaging Het
Other mutations in Pithd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0811:Pithd1 UTSW 4 135,704,445 (GRCm39) splice site probably benign
R1972:Pithd1 UTSW 4 135,714,340 (GRCm39) missense probably damaging 1.00
R4566:Pithd1 UTSW 4 135,704,548 (GRCm39) missense probably damaging 1.00
R7366:Pithd1 UTSW 4 135,714,361 (GRCm39) missense probably benign 0.08
R7997:Pithd1 UTSW 4 135,703,723 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- ACTGCAGGTGAAGAGCCATG -3'
(R):5'- ACATTTGTGTGTAAATGCCAGG -3'

Sequencing Primer
(F):5'- GCTGGGCTATAGATCAAGAC -3'
(R):5'- GGAGAGTGCCATTCTGATCCTAAC -3'
Posted On 2015-07-21