Incidental Mutation 'R5258:Ptrhd1'
ID 401260
Institutional Source Beutler Lab
Gene Symbol Ptrhd1
Ensembl Gene ENSMUSG00000096199
Gene Name peptidyl-tRNA hydrolase domain containing 1
Synonyms 2410017P09Rik
MMRRC Submission 042828-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R5258 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 4284027-4289950 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4286481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 124 (Y124C)
Ref Sequence ENSEMBL: ENSMUSP00000137070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020981] [ENSMUST00000111169] [ENSMUST00000128466] [ENSMUST00000140975] [ENSMUST00000179139]
AlphaFold D3Z4S3
Predicted Effect probably benign
Transcript: ENSMUST00000020981
SMART Domains Protein: ENSMUSP00000020981
Gene: ENSMUSG00000020652

DomainStartEndE-ValueType
Pfam:CENP-O 1 74 2.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111169
SMART Domains Protein: ENSMUSP00000106799
Gene: ENSMUSG00000020652

DomainStartEndE-ValueType
coiled coil region 39 74 N/A INTRINSIC
Pfam:CENP-O 118 195 2.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126017
Predicted Effect probably benign
Transcript: ENSMUST00000128466
SMART Domains Protein: ENSMUSP00000121258
Gene: ENSMUSG00000020652

DomainStartEndE-ValueType
coiled coil region 40 75 N/A INTRINSIC
Pfam:CENP-O 119 196 7.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140975
SMART Domains Protein: ENSMUSP00000119136
Gene: ENSMUSG00000020652

DomainStartEndE-ValueType
coiled coil region 39 74 N/A INTRINSIC
Pfam:CENP-O 117 231 9.4e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179139
AA Change: Y124C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137070
Gene: ENSMUSG00000096199
AA Change: Y124C

DomainStartEndE-ValueType
Pfam:PTH2 25 139 2.4e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220337
Meta Mutation Damage Score 0.2225 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 98% (55/56)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,385,266 (GRCm39) D233V probably damaging Het
Abca13 A T 11: 9,199,684 (GRCm39) T128S possibly damaging Het
Abca16 T G 7: 120,035,992 (GRCm39) probably null Het
Abcc8 T C 7: 45,757,811 (GRCm39) I1313V probably benign Het
Abcc8 C T 7: 45,806,572 (GRCm39) V379I probably benign Het
Acp3 T C 9: 104,186,674 (GRCm39) I266V probably benign Het
Asf1b C T 8: 84,695,896 (GRCm39) T179I probably benign Het
B3gnt7 A G 1: 86,233,287 (GRCm39) K61E possibly damaging Het
Card11 G A 5: 140,862,180 (GRCm39) P1039L possibly damaging Het
Cd1d2 C G 3: 86,894,954 (GRCm39) R147G possibly damaging Het
Cfap68 T C 9: 50,675,633 (GRCm39) probably benign Het
Cfap69 T C 5: 5,654,271 (GRCm39) probably null Het
Ddx46 T C 13: 55,800,837 (GRCm39) F331L possibly damaging Het
Dkk4 C A 8: 23,117,031 (GRCm39) L215I probably damaging Het
Dnhd1 C T 7: 105,323,244 (GRCm39) T584I probably benign Het
Dock3 T C 9: 106,874,124 (GRCm39) Y449C probably damaging Het
Foxi2 C T 7: 135,012,256 (GRCm39) T48M probably benign Het
Gm12887 T C 4: 121,472,897 (GRCm39) K82E probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Igkv4-80 T A 6: 68,993,811 (GRCm39) T27S probably benign Het
Invs A G 4: 48,396,374 (GRCm39) D349G possibly damaging Het
Lbhd1 A G 19: 8,861,453 (GRCm39) probably benign Het
Lipo3 T A 19: 33,591,243 (GRCm39) probably benign Het
Llgl1 G C 11: 60,602,389 (GRCm39) probably null Het
Lyzl6 T A 11: 103,525,899 (GRCm39) I74F probably damaging Het
Map3k6 T C 4: 132,974,953 (GRCm39) V662A possibly damaging Het
Megf8 T A 7: 25,047,751 (GRCm39) F1645I possibly damaging Het
Mfsd4b2 T A 10: 39,798,017 (GRCm39) M113L probably benign Het
Mib1 G A 18: 10,795,856 (GRCm39) probably null Het
Mrps6 T A 16: 91,896,543 (GRCm39) V36E probably damaging Het
Nhsl1 C A 10: 18,400,070 (GRCm39) S432* probably null Het
Nle1 T C 11: 82,795,772 (GRCm39) D225G probably damaging Het
Nlrp4c T A 7: 6,069,622 (GRCm39) S508T probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or5d37 A T 2: 87,923,762 (GRCm39) Y173N probably benign Het
P2rx7 A G 5: 122,819,066 (GRCm39) E496G probably damaging Het
Prdm16 A T 4: 154,451,671 (GRCm39) D179E possibly damaging Het
Psca A T 15: 74,588,240 (GRCm39) I56F probably damaging Het
Ptprg A G 14: 12,142,431 (GRCm38) T361A probably benign Het
Sesn1 C T 10: 41,770,984 (GRCm39) P172S probably benign Het
Sspo T C 6: 48,453,428 (GRCm39) V2872A probably damaging Het
Stard9 T A 2: 120,529,824 (GRCm39) L2027H probably damaging Het
Tas2r114 T A 6: 131,666,504 (GRCm39) I175F probably benign Het
Tex2 T A 11: 106,458,585 (GRCm39) probably benign Het
Tfdp1 C T 8: 13,419,529 (GRCm39) T86M possibly damaging Het
Trav14-1 C T 14: 53,791,730 (GRCm39) H27Y probably benign Het
Trim24 A T 6: 37,896,335 (GRCm39) Q264L probably benign Het
Vmn2r90 A G 17: 17,933,114 (GRCm39) I225V probably benign Het
Vps13b A G 15: 35,794,567 (GRCm39) T2326A possibly damaging Het
Zfp354b A C 11: 50,813,917 (GRCm39) I336S probably benign Het
Zfp407 C T 18: 84,334,051 (GRCm39) V1761I probably damaging Het
Zfp958 A T 8: 4,678,456 (GRCm39) E160D probably benign Het
Other mutations in Ptrhd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0352:Ptrhd1 UTSW 12 4,286,399 (GRCm39) missense probably benign 0.01
R1558:Ptrhd1 UTSW 12 4,286,505 (GRCm39) missense probably damaging 0.99
R5257:Ptrhd1 UTSW 12 4,286,481 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCACAGCTCCAGTTACAGAG -3'
(R):5'- TGCTGGTTCTTAAGAAACCACC -3'

Sequencing Primer
(F):5'- GTGACCTTCTGACACTTCCTAAATGG -3'
(R):5'- GCTGGTTCTTAAGAAACCACCATAAC -3'
Posted On 2016-07-06