Incidental Mutation 'R8010:Tpd52l1'
ID 616864
Institutional Source Beutler Lab
Gene Symbol Tpd52l1
Ensembl Gene ENSMUSG00000000296
Gene Name tumor protein D52-like 1
Synonyms D53
MMRRC Submission 046050-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8010 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 31208372-31321954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 31234009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 48 (D48A)
Ref Sequence ENSEMBL: ENSMUSP00000149177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000305] [ENSMUST00000213528] [ENSMUST00000213639] [ENSMUST00000214644] [ENSMUST00000215515]
AlphaFold O54818
Predicted Effect possibly damaging
Transcript: ENSMUST00000000305
AA Change: D48A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000000305
Gene: ENSMUSG00000000296
AA Change: D48A

DomainStartEndE-ValueType
Pfam:TPD52 9 187 1.3e-74 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213528
AA Change: D48A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213639
AA Change: D48A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214644
AA Change: D48A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215515
AA Change: D48A

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that contain coiled-coil domains and may form hetero- or homomers. The encoded protein is involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,557,303 (GRCm39) H130L probably benign Het
Abca1 A G 4: 53,127,600 (GRCm39) S140P probably benign Het
Aoc1 T C 6: 48,882,582 (GRCm39) Y153H probably benign Het
Arhgdib A G 6: 136,903,720 (GRCm39) I118T probably damaging Het
Atp1a3 T A 7: 24,680,070 (GRCm39) E865V possibly damaging Het
Atrnl1 T C 19: 57,670,878 (GRCm39) V587A probably benign Het
Ccdc107 G T 4: 43,495,768 (GRCm39) E199* probably null Het
Cd55 A T 1: 130,387,353 (GRCm39) D148E probably benign Het
Cdc42ep1 C T 15: 78,731,999 (GRCm39) T148I possibly damaging Het
Cep164 A T 9: 45,734,969 (GRCm39) D19E unknown Het
Chsy3 A G 18: 59,543,226 (GRCm39) Y788C probably damaging Het
Cttnbp2 G C 6: 18,426,092 (GRCm39) A762G possibly damaging Het
Cubn A G 2: 13,340,897 (GRCm39) probably null Het
Ddr1 T A 17: 36,002,384 (GRCm39) M175L possibly damaging Het
Dicer1 C A 12: 104,658,391 (GRCm39) K1850N probably damaging Het
Dnajc6 C T 4: 101,475,611 (GRCm39) R495C probably benign Het
Ecpas T A 4: 58,832,681 (GRCm39) Q893L unknown Het
Fbh1 A T 2: 11,772,443 (GRCm39) N79K probably benign Het
Frmpd1 T A 4: 45,284,272 (GRCm39) V1031D possibly damaging Het
Gm7298 A G 6: 121,712,542 (GRCm39) E118G probably benign Het
Hnrnpll T C 17: 80,369,385 (GRCm39) T13A unknown Het
Jcad A G 18: 4,674,581 (GRCm39) D781G probably benign Het
Kitl A T 10: 99,887,765 (GRCm39) T25S probably benign Het
Krt5 T C 15: 101,620,791 (GRCm39) D152G probably damaging Het
Krtap5-5 T C 7: 141,783,648 (GRCm39) M1V probably null Het
Ktn1 C T 14: 47,943,230 (GRCm39) T862I possibly damaging Het
Mapk4 A T 18: 74,063,647 (GRCm39) I525N probably benign Het
Megf6 T C 4: 154,354,964 (GRCm39) F1457S probably benign Het
Mrm3 A T 11: 76,141,173 (GRCm39) S394C probably damaging Het
Mtmr4 T G 11: 87,489,690 (GRCm39) V71G probably damaging Het
Nek8 T C 11: 78,067,422 (GRCm39) Y4C probably damaging Het
Or13g1 T A 7: 85,956,260 (GRCm39) E20D probably benign Het
Or5ac21 T C 16: 59,123,867 (GRCm39) M117T probably damaging Het
Or7g30 A T 9: 19,352,988 (GRCm39) I260L probably benign Het
Pla2r1 T C 2: 60,345,304 (GRCm39) T351A probably benign Het
Plcb4 C T 2: 135,749,480 (GRCm39) T49M probably benign Het
Psg20 T C 7: 18,414,992 (GRCm39) D301G probably benign Het
Ptpn13 C T 5: 103,707,803 (GRCm39) Q1455* probably null Het
Rbbp8 A T 18: 11,855,290 (GRCm39) N505I possibly damaging Het
Rgs18 A G 1: 144,631,738 (GRCm39) C125R probably benign Het
Rpap2 G A 5: 107,751,471 (GRCm39) C105Y probably damaging Het
Scn10a C T 9: 119,490,233 (GRCm39) G570R possibly damaging Het
Sell C T 1: 163,893,081 (GRCm39) T99I possibly damaging Het
Slc14a1 A T 18: 78,159,704 (GRCm39) M63K probably benign Het
Sp140l2 G A 1: 85,224,671 (GRCm39) S288L possibly damaging Het
Syne2 A T 12: 75,977,512 (GRCm39) D1319V probably benign Het
Tdp2 C T 13: 25,020,010 (GRCm39) T99I probably damaging Het
Tet3 A T 6: 83,380,228 (GRCm39) S647T unknown Het
Ttll10 T C 4: 156,131,618 (GRCm39) D169G probably damaging Het
Wars2 C A 3: 99,124,146 (GRCm39) L336I probably benign Het
Wdfy4 C A 14: 32,693,584 (GRCm39) W2906L Het
Xdh A T 17: 74,216,312 (GRCm39) Y711* probably null Het
Xirp1 T A 9: 119,846,890 (GRCm39) R664S probably benign Het
Other mutations in Tpd52l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0123:Tpd52l1 UTSW 10 31,255,252 (GRCm39) missense probably damaging 1.00
R0134:Tpd52l1 UTSW 10 31,255,252 (GRCm39) missense probably damaging 1.00
R0225:Tpd52l1 UTSW 10 31,255,252 (GRCm39) missense probably damaging 1.00
R4411:Tpd52l1 UTSW 10 31,255,315 (GRCm39) missense possibly damaging 0.88
R4828:Tpd52l1 UTSW 10 31,222,697 (GRCm39) missense probably damaging 1.00
R5073:Tpd52l1 UTSW 10 31,233,916 (GRCm39) missense probably damaging 1.00
R5925:Tpd52l1 UTSW 10 31,208,943 (GRCm39) missense probably benign 0.18
R6332:Tpd52l1 UTSW 10 31,214,203 (GRCm39) missense probably damaging 1.00
R6848:Tpd52l1 UTSW 10 31,208,853 (GRCm39) missense probably benign 0.03
R6906:Tpd52l1 UTSW 10 31,208,950 (GRCm39) missense possibly damaging 0.47
R7900:Tpd52l1 UTSW 10 31,214,178 (GRCm39) splice site probably null
R7935:Tpd52l1 UTSW 10 31,214,201 (GRCm39) missense probably damaging 0.99
R8011:Tpd52l1 UTSW 10 31,208,913 (GRCm39) missense probably benign
R8835:Tpd52l1 UTSW 10 31,255,314 (GRCm39) missense probably benign 0.04
R9321:Tpd52l1 UTSW 10 31,214,189 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TCAACCTTGTAGGAGAAGCCAAAG -3'
(R):5'- TAAGGTCACTCCGTGGTGAG -3'

Sequencing Primer
(F):5'- GCGGGACTGAAAACTCCC -3'
(R):5'- GAGGTCACTTTGAAAAGTCAATCCGC -3'
Posted On 2020-01-23