Incidental Mutation 'R8011:Tpd52l1'
ID 616915
Institutional Source Beutler Lab
Gene Symbol Tpd52l1
Ensembl Gene ENSMUSG00000000296
Gene Name tumor protein D52-like 1
Synonyms D53
MMRRC Submission 046051-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8011 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 31208372-31321954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31208913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 185 (N185S)
Ref Sequence ENSEMBL: ENSMUSP00000149177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000304] [ENSMUST00000000305] [ENSMUST00000159194] [ENSMUST00000213528] [ENSMUST00000213639] [ENSMUST00000214644] [ENSMUST00000215515]
AlphaFold O54818
Predicted Effect probably benign
Transcript: ENSMUST00000000304
SMART Domains Protein: ENSMUSP00000000304
Gene: ENSMUSG00000000295

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
HDc 37 152 3.51e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000000305
AA Change: N180S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000000305
Gene: ENSMUSG00000000296
AA Change: N180S

DomainStartEndE-ValueType
Pfam:TPD52 9 187 1.3e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159194
SMART Domains Protein: ENSMUSP00000124106
Gene: ENSMUSG00000000295

DomainStartEndE-ValueType
Pfam:HD_3 1 100 1.5e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213528
AA Change: N185S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000213639
AA Change: N167S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000214644
Predicted Effect probably benign
Transcript: ENSMUST00000215515
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (46/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik C T 9: 124,056,529 (GRCm39) E132K Het
Acss2 T C 2: 155,397,877 (GRCm39) I313T possibly damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Ankrd27 T C 7: 35,316,306 (GRCm39) V524A probably benign Het
Cacna1e T C 1: 154,341,568 (GRCm39) I1209V probably benign Het
Cntn3 A T 6: 102,414,860 (GRCm39) I29N possibly damaging Het
Col5a1 G A 2: 27,870,533 (GRCm39) probably benign Het
Cttnbp2 G C 6: 18,426,092 (GRCm39) A762G possibly damaging Het
Edc3 C A 9: 57,620,659 (GRCm39) probably benign Het
Egflam A T 15: 7,276,525 (GRCm39) M547K possibly damaging Het
Fgr T C 4: 132,725,790 (GRCm39) Y400H probably damaging Het
Gaa C T 11: 119,163,762 (GRCm39) P205S probably benign Het
Gpr6 T A 10: 40,946,911 (GRCm39) T224S probably benign Het
Hes3 T C 4: 152,371,938 (GRCm39) probably benign Het
Hydin T C 8: 111,310,541 (GRCm39) F4079S probably damaging Het
Igf2bp2 A T 16: 21,894,849 (GRCm39) I366N probably damaging Het
Kmt2c A G 5: 25,556,232 (GRCm39) V1171A probably damaging Het
Kndc1 T A 7: 139,490,536 (GRCm39) F346Y possibly damaging Het
Lpin2 G A 17: 71,537,370 (GRCm39) G306R probably benign Het
Mok T C 12: 110,781,351 (GRCm39) probably benign Het
Nolc1 T C 19: 46,070,023 (GRCm39) V265A unknown Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or2ah1 T G 2: 85,653,957 (GRCm39) L214R possibly damaging Het
Or4c103 G A 2: 88,513,537 (GRCm39) Q180* probably null Het
Or5j1 A C 2: 86,879,190 (GRCm39) L130R probably damaging Het
Or6b2b A G 1: 92,418,997 (GRCm39) V160A possibly damaging Het
Parp14 G A 16: 35,677,004 (GRCm39) T988I probably benign Het
Pdk1 A T 2: 71,705,796 (GRCm39) Q81H probably benign Het
Plekha6 A G 1: 133,191,544 (GRCm39) T38A probably benign Het
Pou2f1 A G 1: 165,722,472 (GRCm39) probably null Het
Rgs6 A G 12: 83,163,066 (GRCm39) D424G probably null Het
Rnf13 T G 3: 57,714,491 (GRCm39) Y183* probably null Het
Ryr2 A T 13: 11,603,026 (GRCm39) probably null Het
Serpinb7 T A 1: 107,362,487 (GRCm39) S64T possibly damaging Het
Six2 T C 17: 85,995,100 (GRCm39) E94G probably damaging Het
Slc44a5 A G 3: 153,953,447 (GRCm39) I276M possibly damaging Het
Smco2 A G 6: 146,769,633 (GRCm39) Y239C probably damaging Het
Ssx2ip T C 3: 146,128,666 (GRCm39) S148P probably damaging Het
Tiam2 T C 17: 3,498,671 (GRCm39) Y816H possibly damaging Het
Tnk2 C T 16: 32,487,183 (GRCm39) R127C probably benign Het
Try5 T C 6: 41,290,421 (GRCm39) D21G probably benign Het
Vmn2r20 A G 6: 123,373,369 (GRCm39) V491A possibly damaging Het
Vps54 G T 11: 21,225,095 (GRCm39) R197L probably damaging Het
Xkr5 G T 8: 18,998,736 (GRCm39) Y27* probably null Het
Zfp1004 A G 2: 150,034,266 (GRCm39) S196G possibly damaging Het
Zfp626 T A 7: 27,518,140 (GRCm39) C374S possibly damaging 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
R8010:Tpd52l1 UTSW 10 31,234,009 (GRCm39) missense possibly damaging 0.89
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'- AGTGGTCATCAACACAAATGC -3'
(R):5'- CATGTGCCTCTGAAGAAAATTGG -3'

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