Incidental Mutation 'R6521:Ptma'
ID 521239
Institutional Source Beutler Lab
Gene Symbol Ptma
Ensembl Gene ENSMUSG00000026238
Gene Name prothymosin alpha
Synonyms Thym
MMRRC Submission 044647-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.637) question?
Stock # R6521 (G1)
Quality Score 184.009
Status Validated
Chromosome 1
Chromosomal Location 86454448-86458434 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 86455569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045897] [ENSMUST00000186255] [ENSMUST00000188533] [ENSMUST00000188699]
AlphaFold P26350
Predicted Effect probably benign
Transcript: ENSMUST00000045897
SMART Domains Protein: ENSMUSP00000044188
Gene: ENSMUSG00000026238

DomainStartEndE-ValueType
Pfam:Prothymosin 2 110 5.4e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186255
SMART Domains Protein: ENSMUSP00000139690
Gene: ENSMUSG00000026238

DomainStartEndE-ValueType
Pfam:Prothymosin 2 47 2.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186932
Predicted Effect probably benign
Transcript: ENSMUST00000188533
SMART Domains Protein: ENSMUSP00000139849
Gene: ENSMUSG00000026238

DomainStartEndE-ValueType
Pfam:Prothymosin 2 98 4.3e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000188699
SMART Domains Protein: ENSMUSP00000140270
Gene: ENSMUSG00000026238

DomainStartEndE-ValueType
Pfam:Prothymosin 88 145 1.9e-13 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,769,968 (GRCm39) S356T probably benign Het
Acsbg2 T C 17: 57,168,565 (GRCm39) M185V probably benign Het
Adgrv1 A T 13: 81,581,771 (GRCm39) F4758I probably damaging Het
Ank3 A G 10: 69,828,596 (GRCm39) probably benign Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Ano4 A G 10: 88,819,640 (GRCm39) V537A probably damaging Het
Catsper2 A G 2: 121,237,288 (GRCm39) L204P probably damaging Het
Cdh20 A C 1: 104,869,859 (GRCm39) D193A probably damaging Het
Ceacam5 T C 7: 17,484,756 (GRCm39) probably null Het
Celf4 T A 18: 25,612,531 (GRCm39) probably null Het
Cfap91 A G 16: 38,127,121 (GRCm39) V545A probably benign Het
Crebbp A T 16: 3,936,992 (GRCm39) F754I probably damaging Het
Cyfip2 A T 11: 46,145,415 (GRCm39) I635N probably damaging Het
Erbb4 T A 1: 68,081,689 (GRCm39) D1131V probably damaging Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Hoxc8 G A 15: 102,901,135 (GRCm39) V193M probably benign Het
Klhdc3 A G 17: 46,988,687 (GRCm39) V124A probably benign Het
Klhl18 A G 9: 110,257,703 (GRCm39) I509T possibly damaging Het
Mdfic T A 6: 15,729,027 (GRCm39) probably benign Het
Mkln1 T A 6: 31,467,479 (GRCm39) D64E probably damaging Het
Mmd2 A G 5: 142,560,585 (GRCm39) I112T probably damaging Het
Mpl C T 4: 118,312,314 (GRCm39) probably null Het
Mtmr4 A G 11: 87,504,353 (GRCm39) T1044A possibly damaging Het
Muc5b C A 7: 141,412,908 (GRCm39) Y1951* probably null Het
Myo15a C T 11: 60,393,195 (GRCm39) H2240Y probably damaging Het
Nckap5 A T 1: 126,309,909 (GRCm39) I74K probably damaging Het
Nfxl1 A T 5: 72,697,651 (GRCm39) probably null Het
Or11j4 T C 14: 50,631,005 (GRCm39) V264A possibly damaging Het
Or2ah1 A T 2: 85,653,794 (GRCm39) I160F probably benign Het
Or4c11c A G 2: 88,661,700 (GRCm39) I80V probably benign Het
Or8d2 C T 9: 38,759,893 (GRCm39) T161I probably benign Het
Piezo2 T C 18: 63,154,399 (GRCm39) Y2460C probably damaging Het
Pigx A G 16: 31,906,129 (GRCm39) L64P probably damaging Het
Prss1 C T 6: 41,440,615 (GRCm39) T230I probably damaging Het
Rab39 T C 9: 53,617,331 (GRCm39) T29A probably benign Het
Rem2 C T 14: 54,715,144 (GRCm39) A107V possibly damaging Het
Senp1 A G 15: 97,946,152 (GRCm39) V531A probably damaging Het
Serhl A G 15: 82,985,843 (GRCm39) probably null Het
Sirpa T G 2: 129,472,075 (GRCm39) Y164D probably damaging Het
Slc12a3 T C 8: 95,069,741 (GRCm39) I550T possibly damaging Het
Slc22a14 T C 9: 119,049,835 (GRCm39) probably null Het
Slfn5 A G 11: 82,851,241 (GRCm39) N513D probably damaging Het
Sptan1 T C 2: 29,910,467 (GRCm39) S1831P possibly damaging Het
Swap70 T C 7: 109,855,027 (GRCm39) L109P probably benign Het
Tas2r119 G A 15: 32,178,319 (GRCm39) C295Y probably damaging Het
Tcaf3 T A 6: 42,570,172 (GRCm39) I527L probably damaging Het
Traj31 A G 14: 54,425,387 (GRCm39) probably benign Het
Unc5a T A 13: 55,152,748 (GRCm39) D887E probably benign Het
Zfp407 T A 18: 84,450,536 (GRCm39) H1600L probably damaging Het
Other mutations in Ptma
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0013:Ptma UTSW 1 86,457,498 (GRCm39) unclassified probably benign
R0013:Ptma UTSW 1 86,457,498 (GRCm39) unclassified probably benign
R5554:Ptma UTSW 1 86,454,649 (GRCm39) missense probably damaging 0.99
R7371:Ptma UTSW 1 86,457,261 (GRCm39) unclassified probably benign
R7493:Ptma UTSW 1 86,457,261 (GRCm39) unclassified probably benign
R7494:Ptma UTSW 1 86,457,261 (GRCm39) unclassified probably benign
R7495:Ptma UTSW 1 86,457,261 (GRCm39) unclassified probably benign
R9416:Ptma UTSW 1 86,455,694 (GRCm39) missense unknown
R9572:Ptma UTSW 1 86,457,697 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CGAGTCGCTCTTTGTTAGGC -3'
(R):5'- GAATTCACCTGAGACTCCCG -3'

Sequencing Primer
(F):5'- TTCTGACCGCGACACCTAAGG -3'
(R):5'- CTGAGACTCCCGCCGAG -3'
Posted On 2018-06-06