Incidental Mutation 'R4422:Tmem53'
ID 327133
Institutional Source Beutler Lab
Gene Symbol Tmem53
Ensembl Gene ENSMUSG00000048772
Gene Name transmembrane protein 53
Synonyms 1110038M16Rik, 1500001P22Rik, 1700012A05Rik
MMRRC Submission 041695-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R4422 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 117109148-117125779 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117123149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 37 (Y37H)
Ref Sequence ENSEMBL: ENSMUSP00000121458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062824] [ENSMUST00000106433] [ENSMUST00000106434] [ENSMUST00000125943]
AlphaFold Q9D0Z3
Predicted Effect probably damaging
Transcript: ENSMUST00000062824
AA Change: Y52H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061523
Gene: ENSMUSG00000048772
AA Change: Y52H

DomainStartEndE-ValueType
Pfam:DUF829 34 270 4.1e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106433
AA Change: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102041
Gene: ENSMUSG00000048772
AA Change: Y37H

DomainStartEndE-ValueType
Pfam:DUF829 19 255 3.4e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106434
AA Change: Y59H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102042
Gene: ENSMUSG00000048772
AA Change: Y59H

DomainStartEndE-ValueType
Pfam:DUF829 41 277 1.3e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125943
AA Change: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121458
Gene: ENSMUSG00000048772
AA Change: Y37H

DomainStartEndE-ValueType
Pfam:DUF829 19 252 5.3e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154449
Meta Mutation Damage Score 0.9080 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (67/70)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 T C 2: 26,895,412 (GRCm39) S1168P probably benign Het
Adgrf2 T C 17: 43,024,046 (GRCm39) M142V probably benign Het
Akna G T 4: 63,305,330 (GRCm39) Q479K possibly damaging Het
Arhgef9 T G X: 94,144,670 (GRCm39) I131L possibly damaging Het
AW551984 A T 9: 39,511,373 (GRCm39) C111S probably null Het
Bak1 C A 17: 27,240,298 (GRCm39) G130W probably damaging Het
Bank1 T A 3: 135,788,972 (GRCm39) Q441L probably damaging Het
C030034I22Rik T C 17: 69,725,153 (GRCm39) noncoding transcript Het
Capns2 T A 8: 93,628,252 (GRCm39) I47N possibly damaging Het
Cct7 A G 6: 85,444,127 (GRCm39) R355G probably damaging Het
Cd19 C T 7: 126,012,578 (GRCm39) V272I probably benign Het
Cenpf A G 1: 189,390,547 (GRCm39) L1095S probably damaging Het
Cep44 G A 8: 56,991,652 (GRCm39) P317S probably benign Het
Chrm3 A T 13: 9,928,591 (GRCm39) Y148* probably null Het
Chrnb3 T C 8: 27,886,761 (GRCm39) V445A possibly damaging Het
Col4a4 T A 1: 82,467,559 (GRCm39) M852L unknown Het
Dhx29 T C 13: 113,083,781 (GRCm39) L612P probably damaging Het
Dlgap2 T C 8: 14,793,463 (GRCm39) probably null Het
Dnah17 T C 11: 117,972,799 (GRCm39) T2045A possibly damaging Het
Dync1li1 A G 9: 114,538,377 (GRCm39) T245A probably damaging Het
Epha4 T C 1: 77,488,354 (GRCm39) E42G probably damaging Het
Fam120b C A 17: 15,622,445 (GRCm39) T141K probably damaging Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Gcnt2 T G 13: 41,014,001 (GRCm39) Y57* probably null Het
Gm5409 C T 6: 41,396,519 (GRCm39) noncoding transcript Het
Hip1r A G 5: 124,135,069 (GRCm39) K402E possibly damaging Het
Hlcs G A 16: 93,939,819 (GRCm39) P506L possibly damaging Het
Itih4 T A 14: 30,611,821 (GRCm39) F142I probably damaging Het
Krt78 T C 15: 101,856,375 (GRCm39) T479A probably benign Het
Lamb2 A G 9: 108,360,754 (GRCm39) D518G probably damaging Het
Ldlr G A 9: 21,649,248 (GRCm39) C341Y probably damaging Het
Lsr G T 7: 30,665,422 (GRCm39) N177K probably benign Het
Macf1 G A 4: 123,359,839 (GRCm39) S1815F probably damaging Het
Mms22l T C 4: 24,503,008 (GRCm39) S95P probably damaging Het
Mon2 A G 10: 122,878,887 (GRCm39) L218P probably damaging Het
Nlrp4f C T 13: 65,332,776 (GRCm39) probably null Het
Nrde2 G A 12: 100,112,286 (GRCm39) Q137* probably null Het
Or12e10 C A 2: 87,640,989 (GRCm39) T275K probably damaging Het
Or51l14 G T 7: 103,101,450 (GRCm39) R302L probably damaging Het
Or6z7 G T 7: 6,484,037 (GRCm39) Y39* probably null Het
Phf24 G A 4: 42,934,817 (GRCm39) C151Y probably damaging Het
Pik3r1 T G 13: 101,830,892 (GRCm39) N3T probably benign Het
Plcb2 T C 2: 118,542,484 (GRCm39) K821E probably benign Het
Ppat A G 5: 77,063,061 (GRCm39) W517R probably damaging Het
Prelid2 T C 18: 42,045,461 (GRCm39) T150A probably benign Het
Psg21 A G 7: 18,381,257 (GRCm39) S429P probably damaging Het
Reg4 T C 3: 98,140,360 (GRCm39) Y114H possibly damaging Het
Rsbn1l G T 5: 21,101,544 (GRCm39) H665Q probably damaging Het
Rspo2 T C 15: 43,033,150 (GRCm39) N24S probably benign Het
Ryr2 G T 13: 11,731,952 (GRCm39) C2329* probably null Het
Skint2 T A 4: 112,441,785 (GRCm39) probably benign Het
Spmap2l T C 5: 77,202,383 (GRCm39) I268T possibly damaging Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tmem59l G A 8: 70,938,749 (GRCm39) R111W probably damaging Het
Tnks2 G A 19: 36,823,053 (GRCm39) V107I probably damaging Het
Tpcn1 T C 5: 120,680,583 (GRCm39) K549R probably damaging Het
Tubgcp4 T A 2: 121,019,882 (GRCm39) L404* probably null Het
Vmn2r86 T C 10: 130,288,845 (GRCm39) I219V possibly damaging Het
Vsig10 T C 5: 117,462,986 (GRCm39) S71P probably benign Het
Wnk1 T C 6: 119,930,856 (GRCm39) N896S probably benign Het
Zfp871 T A 17: 32,993,808 (GRCm39) S437C probably benign Het
Zfp871 C A 17: 32,993,807 (GRCm39) S456I probably benign Het
Zfp873 A G 10: 81,896,708 (GRCm39) T480A probably benign Het
Other mutations in Tmem53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02947:Tmem53 APN 4 117,125,285 (GRCm39) nonsense probably null
R1513:Tmem53 UTSW 4 117,123,090 (GRCm39) missense probably damaging 1.00
R5173:Tmem53 UTSW 4 117,122,908 (GRCm39) intron probably benign
R5729:Tmem53 UTSW 4 117,125,669 (GRCm39) missense probably damaging 1.00
R6467:Tmem53 UTSW 4 117,125,625 (GRCm39) missense possibly damaging 0.58
R6807:Tmem53 UTSW 4 117,125,528 (GRCm39) missense probably benign 0.15
R6980:Tmem53 UTSW 4 117,125,705 (GRCm39) missense probably damaging 1.00
R7256:Tmem53 UTSW 4 117,109,237 (GRCm39) splice site probably null
R9016:Tmem53 UTSW 4 117,125,451 (GRCm39) missense probably benign 0.01
R9515:Tmem53 UTSW 4 117,125,122 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- ACACTGAGTGCTTGTTGGTTCC -3'
(R):5'- CAGAACCAAAGTCCCGTGAG -3'

Sequencing Primer
(F):5'- CCGGCCCACAGCTCTAGATC -3'
(R):5'- AAAGTCCCGTGAGCCCACTG -3'
Posted On 2015-07-07