Incidental Mutation 'R6815:Tmem52b'
ID 537275
Institutional Source Beutler Lab
Gene Symbol Tmem52b
Ensembl Gene ENSMUSG00000030160
Gene Name transmembrane protein 52B
Synonyms D630042F21Rik
MMRRC Submission 044927-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6815 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 129489518-129496190 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 129493705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032263] [ENSMUST00000032263] [ENSMUST00000204741] [ENSMUST00000204741]
AlphaFold Q0VBF2
Predicted Effect probably null
Transcript: ENSMUST00000032263
SMART Domains Protein: ENSMUSP00000032263
Gene: ENSMUSG00000030160

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:TMEM52 30 166 1.9e-62 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000032263
SMART Domains Protein: ENSMUSP00000032263
Gene: ENSMUSG00000030160

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:TMEM52 30 166 1.9e-62 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000204741
Predicted Effect probably null
Transcript: ENSMUST00000204741
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T G 14: 54,828,610 (GRCm39) N297T probably damaging Het
6820408C15Rik A G 2: 152,282,975 (GRCm39) N251S probably benign Het
Abcc5 T C 16: 20,152,380 (GRCm39) T1389A probably damaging Het
Acad11 A G 9: 103,958,526 (GRCm39) T265A probably benign Het
Ace3 C T 11: 105,888,084 (GRCm39) Q302* probably null Het
Aip A T 19: 4,166,066 (GRCm39) H128Q probably benign Het
Akr1b7 A T 6: 34,389,269 (GRCm39) probably null Het
Arid4a T A 12: 71,063,856 (GRCm39) probably null Het
Armh1 T A 4: 117,087,134 (GRCm39) H177L probably damaging Het
Aspm A G 1: 139,407,880 (GRCm39) T2256A probably benign Het
Bco1 A T 8: 117,840,261 (GRCm39) M260L probably benign Het
Ccdc110 A G 8: 46,395,024 (GRCm39) N305S probably benign Het
Ccdc158 T A 5: 92,760,345 (GRCm39) Y1035F probably damaging Het
Cd180 C T 13: 102,841,937 (GRCm39) L328F probably damaging Het
Cntrl T C 2: 35,039,503 (GRCm39) L1121P probably damaging Het
Cyp2u1 A C 3: 131,091,659 (GRCm39) I287S probably damaging Het
Dnah3 C T 7: 119,570,950 (GRCm39) M2195I probably benign Het
Dnajc21 C T 15: 10,447,777 (GRCm39) probably null Het
Dock10 C T 1: 80,516,576 (GRCm39) V1398M possibly damaging Het
Dpy19l3 T A 7: 35,449,272 (GRCm39) I44F possibly damaging Het
Dst C A 1: 34,267,450 (GRCm39) T4964K possibly damaging Het
Ercc4 T C 16: 12,941,299 (GRCm39) I139T probably damaging Het
Gpr4 T A 7: 18,956,560 (GRCm39) F161I probably damaging Het
Gucy2e A C 11: 69,122,827 (GRCm39) L516R possibly damaging Het
Hdhd5 A G 6: 120,498,170 (GRCm39) V143A probably benign Het
Heatr4 T A 12: 84,026,501 (GRCm39) Q252L probably damaging Het
Heatr5a T G 12: 52,002,291 (GRCm39) D215A possibly damaging Het
Hipk2 G T 6: 38,795,777 (GRCm39) A164D probably damaging Het
Igsf11 A G 16: 38,829,243 (GRCm39) I46V probably benign Het
Iqgap1 C T 7: 80,416,632 (GRCm39) probably null Het
Lrig1 A G 6: 94,602,010 (GRCm39) L281P probably damaging Het
Or10p22 A G 10: 128,826,191 (GRCm39) S137G probably benign Het
Or7g32 G T 9: 19,389,061 (GRCm39) H159N probably benign Het
Pcdha7 A G 18: 37,108,174 (GRCm39) T400A probably damaging Het
Pde5a A G 3: 122,618,573 (GRCm39) T629A probably benign Het
Pkhd1l1 A G 15: 44,426,051 (GRCm39) D3204G probably damaging Het
Prkd2 T C 7: 16,577,718 (GRCm39) F57S probably benign Het
Prr15l T C 11: 96,825,433 (GRCm39) V21A probably damaging Het
Rag2 T A 2: 101,460,900 (GRCm39) N403K probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rtl1 C A 12: 109,560,937 (GRCm39) D301Y probably damaging Het
Septin14 T C 5: 129,770,051 (GRCm39) N215S probably benign Het
Sin3a T A 9: 57,024,824 (GRCm39) D1061E probably benign Het
Skint5 T A 4: 113,574,324 (GRCm39) probably null Het
Stox2 A T 8: 47,646,136 (GRCm39) D441E probably damaging Het
Tpm3-rs7 A G 14: 113,552,292 (GRCm39) E62G probably benign Het
Trim54 G T 5: 31,291,424 (GRCm39) V182L probably damaging Het
Trmt6 A C 2: 132,651,778 (GRCm39) V214G probably damaging Het
Ttc21b T C 2: 66,057,134 (GRCm39) S613G probably benign Het
Ttll4 C A 1: 74,718,508 (GRCm39) R120S possibly damaging Het
Wdr41 A T 13: 95,154,682 (GRCm39) K354N probably damaging Het
Zfp652 A T 11: 95,640,230 (GRCm39) K52* probably null Het
Other mutations in Tmem52b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Tmem52b APN 6 129,493,678 (GRCm39) missense probably damaging 1.00
IGL00792:Tmem52b APN 6 129,493,704 (GRCm39) missense probably damaging 1.00
R4475:Tmem52b UTSW 6 129,491,219 (GRCm39) missense probably benign 0.01
R5249:Tmem52b UTSW 6 129,491,221 (GRCm39) critical splice donor site probably null
R7238:Tmem52b UTSW 6 129,493,651 (GRCm39) missense probably damaging 1.00
R7577:Tmem52b UTSW 6 129,493,040 (GRCm39) nonsense probably null
R7791:Tmem52b UTSW 6 129,489,966 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TAAAGTATGGTTAGGTCAGAGCTGG -3'
(R):5'- CTTGAGAATTCAGGCATCAGTG -3'

Sequencing Primer
(F):5'- ACCAGTTGACCACAGGTTG -3'
(R):5'- TTCAGGCATCAGTGACAGCCTAG -3'
Posted On 2018-10-18