Incidental Mutation 'R9572:Ptma'
ID 722031
Institutional Source Beutler Lab
Gene Symbol Ptma
Ensembl Gene ENSMUSG00000026238
Gene Name prothymosin alpha
Synonyms Thym
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.618) question?
Stock # R9572 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 86454448-86458434 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86457697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 100 (V100E)
Ref Sequence ENSEMBL: ENSMUSP00000044188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045897] [ENSMUST00000186255] [ENSMUST00000188533] [ENSMUST00000188699]
AlphaFold P26350
PDB Structure Crystal structure of Keap1 complexed with Prothymosin alpha [X-RAY DIFFRACTION]
Predicted Effect unknown
Transcript: ENSMUST00000045897
AA Change: V100E
SMART Domains Protein: ENSMUSP00000044188
Gene: ENSMUSG00000026238
AA Change: V100E

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 probably benign
Transcript: ENSMUST00000188533
SMART Domains Protein: ENSMUSP00000139849
Gene: ENSMUSG00000026238

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

DomainStartEndE-ValueType
Pfam:Prothymosin 88 145 1.9e-13 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,748,477 (GRCm39) S1083P probably damaging Het
Aldh6a1 C A 12: 84,487,017 (GRCm39) R140L probably damaging Het
Aldoart1 T A 4: 72,770,770 (GRCm39) M13L probably benign Het
Anapc1 G T 2: 128,505,976 (GRCm39) T620K probably benign Het
Ano1 T A 7: 144,204,293 (GRCm39) probably null Het
Apol9a C T 15: 77,288,804 (GRCm39) A188T probably benign Het
Ash1l A G 3: 88,960,188 (GRCm39) K2307E probably damaging Het
Astn2 A T 4: 65,299,872 (GRCm39) S1292R unknown Het
Asxl3 T A 18: 22,649,112 (GRCm39) V367D probably benign Het
B3gnt7 T A 1: 86,233,492 (GRCm39) L246Q probably damaging Het
B4gat1 T G 19: 5,089,474 (GRCm39) L157R probably damaging Het
Bag4 A T 8: 26,258,303 (GRCm39) Y341* probably null Het
Bccip G A 7: 133,322,478 (GRCm39) D275N probably damaging Het
Cd109 T A 9: 78,567,588 (GRCm39) F267I probably benign Het
Cfap221 T A 1: 119,873,566 (GRCm39) D487V probably damaging Het
Chpt1 T C 10: 88,316,806 (GRCm39) I217M probably damaging Het
Clock T C 5: 76,377,338 (GRCm39) T654A probably benign Het
Ctsr A G 13: 61,310,978 (GRCm39) S23P probably benign Het
Dst T A 1: 34,250,252 (GRCm39) Y2055N probably damaging Het
F7 A T 8: 13,083,953 (GRCm39) I213F probably benign Het
Grb14 A G 2: 64,763,680 (GRCm39) Y232H probably damaging Het
Gsg1l2 A G 11: 67,677,301 (GRCm39) N190S probably benign Het
Hrnr A G 3: 93,239,467 (GRCm39) Y3235C unknown Het
Iws1 T A 18: 32,203,257 (GRCm39) S44R probably damaging Het
Kif26b A T 1: 178,745,042 (GRCm39) T1713S probably benign Het
Lama4 C T 10: 38,959,271 (GRCm39) R1230C probably damaging Het
Lrrcc1 G A 3: 14,601,148 (GRCm39) W60* probably null Het
Mcur1 A G 13: 43,713,433 (GRCm39) F57S probably benign Het
Mrc1 T C 2: 14,234,334 (GRCm39) L4P probably benign Het
Msh5 T C 17: 35,250,369 (GRCm39) Y548C probably damaging Het
Naip5 T C 13: 100,359,821 (GRCm39) T472A probably benign Het
Nckap5 T A 1: 125,955,454 (GRCm39) N366I probably benign Het
Nr4a3 T A 4: 48,051,258 (GRCm39) V4E probably damaging Het
Nuak1 C A 10: 84,228,179 (GRCm39) V175L probably damaging Het
Or2ag13 A G 7: 106,313,546 (GRCm39) L114P probably damaging Het
Or5b106 T A 19: 13,123,928 (GRCm39) I32F possibly damaging Het
Or5w1 A G 2: 87,486,914 (GRCm39) V117A probably benign Het
Or8b49 A T 9: 38,505,627 (GRCm39) I37L probably benign Het
Phactr2 C T 10: 13,264,561 (GRCm39) probably benign Het
Pomk T C 8: 26,472,936 (GRCm39) D339G possibly damaging Het
Ppp2r5e A T 12: 75,562,468 (GRCm39) Y88N probably benign Het
Rab3b T C 4: 108,786,725 (GRCm39) probably null Het
Rp1 G A 1: 4,418,662 (GRCm39) H817Y probably benign Het
Rpn1 T A 6: 88,078,994 (GRCm39) I479N probably damaging Het
Sdk1 G A 5: 141,595,784 (GRCm39) G147R probably damaging Het
Serpina3i C A 12: 104,234,743 (GRCm39) T358K probably damaging Het
Siglecf A G 7: 43,002,058 (GRCm39) K231R possibly damaging Het
Skint6 C T 4: 112,985,128 (GRCm39) V413I probably benign Het
Spata7 T C 12: 98,614,655 (GRCm39) C96R probably damaging Het
Sptbn4 A T 7: 27,066,095 (GRCm39) V1991E probably benign Het
Sstr2 A G 11: 113,516,017 (GRCm39) Y312C probably damaging Het
Taco1 T A 11: 105,963,938 (GRCm39) D232E possibly damaging Het
Tcerg1l C T 7: 137,881,787 (GRCm39) A301T probably benign Het
Tmub2 T A 11: 102,176,541 (GRCm39) M11K Het
Trpc6 T A 9: 8,656,622 (GRCm39) V761D possibly damaging Het
Ttll13 A T 7: 79,908,008 (GRCm39) N510I probably benign Het
Vcpip1 T C 1: 9,816,770 (GRCm39) N538D possibly damaging Het
Vmn2r100 A T 17: 19,741,513 (GRCm39) Y75F probably benign Het
Vwa5a A G 9: 38,649,239 (GRCm39) I662M probably benign Het
Xkr5 A G 8: 18,984,166 (GRCm39) S459P probably benign Het
Zfp106 G A 2: 120,349,559 (GRCm39) T1644I 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
R6521:Ptma UTSW 1 86,455,569 (GRCm39) critical splice acceptor site probably null
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
Predicted Primers PCR Primer
(F):5'- ATCTGCAGCTGGGAGGATAG -3'
(R):5'- AGCGCATGTCATATCTGTGGG -3'

Sequencing Primer
(F):5'- CCTTGATTGATTCTCCAGGTGAG -3'
(R):5'- CATATCTGTGGGTGGCATTGC -3'
Posted On 2022-08-09