Incidental Mutation 'R7972:Tpt1'
ID650678
Institutional Source Beutler Lab
Gene Symbol Tpt1
Ensembl Gene ENSMUSG00000060126
Gene Nametumor protein, translationally-controlled 1
SynonymsTrt, TCTP, fortilin
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7972 (G1)
Quality Score225.009
Status Validated
Chromosome14
Chromosomal Location75845093-75848525 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) T to C at 75848099 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Glutamine at position 173 (*173Q)
Ref Sequence ENSEMBL: ENSMUSP00000106519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110894] [ENSMUST00000142061]
Predicted Effect probably null
Transcript: ENSMUST00000110894
AA Change: *173Q
SMART Domains Protein: ENSMUSP00000106519
Gene: ENSMUSG00000060126
AA Change: *173Q

DomainStartEndE-ValueType
Pfam:TCTP 1 168 5.2e-84 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000142061
AA Change: *139Q
SMART Domains Protein: ENSMUSP00000121225
Gene: ENSMUSG00000060126
AA Change: *139Q

DomainStartEndE-ValueType
Pfam:TCTP 1 135 6.5e-58 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (48/49)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele die prior to embryo turning due to defects in embryogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a T A 17: 35,101,311 V384E probably damaging Het
Acacb C T 5: 114,226,857 R1533* probably null Het
Alox12 T A 11: 70,242,687 M604L probably benign Het
Amotl2 C T 9: 102,723,769 T345I probably benign Het
Brdt A T 5: 107,348,549 I176F possibly damaging Het
Cdk5 G T 5: 24,419,658 T245K probably benign Het
Chd9 A T 8: 91,005,767 R1304S unknown Het
Clpsl2 G A 17: 28,550,728 G55R probably damaging Het
Cyp2j11 T A 4: 96,297,634 E438V probably damaging Het
Dao AGG AG 5: 114,015,209 probably benign Het
Dnah10 T C 5: 124,726,885 V92A probably benign Het
Dusp27 T A 1: 166,099,139 E968V probably damaging Het
Evl C T 12: 108,681,524 R295* probably null Het
Fam184a A T 10: 53,638,259 L1022Q probably damaging Het
Foxd4 T C 19: 24,900,230 H202R probably damaging Het
Fry T C 5: 150,310,396 V16A probably benign Het
Gstcd A T 3: 133,072,133 F306I probably benign Het
Hist1h2bl A G 13: 21,715,807 S113P possibly damaging Het
Hivep3 T C 4: 120,097,514 V1009A possibly damaging Het
Hoxd12 G T 2: 74,675,925 R227L probably damaging Het
Ifi208 T A 1: 173,678,990 M113K possibly damaging Het
Kcnh4 T G 11: 100,752,452 T330P probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,436,913 probably benign Het
Lin28a G A 4: 134,006,263 P158S probably damaging Het
Muc16 C A 9: 18,645,764 E3078* probably null Het
Naaladl1 A G 19: 6,106,244 N120S probably damaging Het
Nol10 G A 12: 17,352,647 R40H probably benign Het
Ntng1 G A 3: 110,135,486 S8L probably benign Het
Olfr1212 T A 2: 88,958,833 Y122* probably null Het
Olfr1243 T G 2: 89,527,604 I269L probably benign Het
Pacsin1 T A 17: 27,708,639 F319I unknown Het
Pla2g4d G A 2: 120,278,932 T212I probably benign Het
Ppp4r1 T A 17: 65,833,098 C664S possibly damaging Het
Prodh2 T C 7: 30,511,155 I377T probably damaging Het
Prss57 A T 10: 79,783,396 L243H probably benign Het
Pxdn C T 12: 30,006,602 L1271F probably damaging Het
Ros1 G A 10: 52,154,830 R581* probably null Het
Rps6kc1 C T 1: 190,799,124 G894S probably benign Het
Sirt7 A G 11: 120,619,190 S183P unknown Het
Slc12a4 G A 8: 105,951,605 R319W possibly damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,660,334 probably benign Het
Tbc1d8 A G 1: 39,392,169 F374S probably damaging Het
Tdrd1 T A 19: 56,848,702 D489E probably damaging Het
Tiprl T A 1: 165,236,974 probably benign Het
Trim17 A G 11: 58,968,568 I203V probably benign Het
Trim43b T A 9: 89,091,308 H124L probably damaging Het
Triobp T C 15: 78,967,986 I780T probably damaging Het
Ttc30a1 A T 2: 75,980,458 M427K probably damaging Het
Tyrobp G A 7: 30,414,638 G101R Het
Vmn1r181 A T 7: 23,984,446 H112L probably benign Het
Wdr19 A G 5: 65,223,850 N406D probably damaging Het
Zc3h12a T C 4: 125,119,935 K379E probably benign Het
Zcwpw1 T C 5: 137,801,061 I230T probably benign Het
Zfhx4 A G 3: 5,412,473 T3383A probably benign Het
Other mutations in Tpt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3157:Tpt1 UTSW 14 75846400 splice site probably benign
R6415:Tpt1 UTSW 14 75846371 missense probably benign 0.40
R6762:Tpt1 UTSW 14 75846381 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGACCTCGAACAGTTTGTGG -3'
(R):5'- AGGGTCAGCACAATCACAG -3'

Sequencing Primer
(F):5'- ACCTCGAACAGTTTGTGGTTGTTC -3'
(R):5'- TCACAGCAAAGAGTTCTTAAGTGG -3'
Posted On2020-09-15