Incidental Mutation 'R6906:Tpd52l1'
ID 538786
Institutional Source Beutler Lab
Gene Symbol Tpd52l1
Ensembl Gene ENSMUSG00000000296
Gene Name tumor protein D52-like 1
Synonyms D53
MMRRC Submission 044998-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6906 (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 G at 31208950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 168 (T168P)
Ref Sequence ENSEMBL: ENSMUSP00000000305 (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 possibly damaging
Transcript: ENSMUST00000000305
AA Change: T168P

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000000305
Gene: ENSMUSG00000000296
AA Change: T168P

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: T173P

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000213639
AA Change: T155P

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000214644
Predicted Effect probably benign
Transcript: ENSMUST00000215515
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency 98% (45/46)
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
Abcf2 A G 5: 24,773,840 (GRCm39) F350L possibly damaging Het
Ahnak2 T A 12: 112,748,933 (GRCm39) T305S probably benign Het
Anp32a A G 9: 62,284,851 (GRCm39) probably benign Het
Aplf A G 6: 87,607,068 (GRCm39) S449P possibly damaging Het
Arl6ip4 A G 5: 124,254,614 (GRCm39) R36G possibly damaging Het
Ascc1 G A 10: 59,840,674 (GRCm39) D12N probably benign Het
Bin1 C A 18: 32,554,978 (GRCm39) H243Q probably benign Het
Ccdc168 C T 1: 44,095,173 (GRCm39) S1975N probably benign Het
Ccdc7a C A 8: 129,662,162 (GRCm39) V547L unknown Het
Cntnap5c T A 17: 58,702,302 (GRCm39) N1207K probably benign Het
Coro7 C A 16: 4,451,168 (GRCm39) R507L probably benign Het
Crtap T A 9: 114,210,700 (GRCm39) K291N probably benign Het
Csmd3 T C 15: 47,710,569 (GRCm39) T1569A probably benign Het
Dmrta1 A G 4: 89,580,203 (GRCm39) T388A probably benign Het
Ehd3 T C 17: 74,137,333 (GRCm39) F501L probably damaging Het
Fbn2 A C 18: 58,204,891 (GRCm39) L1184R possibly damaging Het
Fhip1b G A 7: 105,037,476 (GRCm39) T369I probably damaging Het
Hsf1 T C 15: 76,361,919 (GRCm39) probably null Het
Hycc1 A T 5: 24,204,956 (GRCm39) W12R probably damaging Het
Kansl1l T C 1: 66,762,437 (GRCm39) H810R possibly damaging Het
Lrp5 A T 19: 3,672,638 (GRCm39) I557N probably damaging Het
Lypd1 T C 1: 125,838,196 (GRCm39) E41G probably damaging Het
Mgam A G 6: 40,724,853 (GRCm39) Y443C probably damaging Het
Muc2 A G 7: 141,284,976 (GRCm39) D871G probably damaging Het
Nup85 T A 11: 115,471,769 (GRCm39) Y198N probably damaging Het
Obscn T A 11: 58,923,744 (GRCm39) M6578L possibly damaging Het
Or8h7 T C 2: 86,721,091 (GRCm39) T143A probably benign Het
Osbpl5 G C 7: 143,248,065 (GRCm39) Q667E probably damaging Het
Ovgp1 T A 3: 105,894,189 (GRCm39) probably benign Het
Prl8a2 T A 13: 27,532,900 (GRCm39) N37K probably benign Het
Ptprf A T 4: 118,126,474 (GRCm39) I93N possibly damaging Het
Rnf112 T C 11: 61,341,215 (GRCm39) S457G probably null Het
Sema3e A G 5: 14,290,601 (GRCm39) D562G probably damaging Het
Sesn3 A G 9: 14,236,937 (GRCm39) M472V probably damaging Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 126,915,419 (GRCm39) probably benign Het
Shc3 T C 13: 51,620,595 (GRCm39) T144A probably damaging Het
Sis A G 3: 72,826,818 (GRCm39) L1287P probably damaging Het
Srrm2 C T 17: 24,039,337 (GRCm39) P2090S probably damaging Het
Syne2 T G 12: 76,042,760 (GRCm39) D3910E possibly damaging Het
Tcaim C T 9: 122,663,839 (GRCm39) T443I probably benign Het
Tex19.1 T C 11: 121,037,948 (GRCm39) V102A probably benign Het
Trdn G A 10: 33,109,944 (GRCm39) C294Y probably benign Het
Trmt1l T C 1: 151,327,926 (GRCm39) Y479H probably benign Het
Vmn1r171 G A 7: 23,331,804 (GRCm39) V10I probably benign Het
Zbtb41 T A 1: 139,351,128 (GRCm39) D80E possibly damaging Het
Zcchc4 A G 5: 52,980,976 (GRCm39) K473E 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
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
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'- CCAGTGGGATTTTGGTCTTCATATC -3'
(R):5'- TTCGAAATCTTATCCCAGAACCGAG -3'

Sequencing Primer
(F):5'- TCTTCATATCAGAGGATGAGCAGGC -3'
(R):5'- TCTTATCCCAGAACCGAGATTAATAC -3'
Posted On 2018-11-06