Incidental Mutation 'IGL00966:Tmem230'
ID 26986
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem230
Ensembl Gene ENSMUSG00000027341
Gene Name transmembrane protein 230
Synonyms 5730494N06Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.411) question?
Stock # IGL00966
Quality Score
Status
Chromosome 2
Chromosomal Location 132081412-132089708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 132087897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 26 (D26E)
Ref Sequence ENSEMBL: ENSMUSP00000136826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028816] [ENSMUST00000028817] [ENSMUST00000110163] [ENSMUST00000110164] [ENSMUST00000180286]
AlphaFold Q8CIB6
Predicted Effect probably benign
Transcript: ENSMUST00000028816
AA Change: D26E

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000028816
Gene: ENSMUSG00000027341
AA Change: D26E

DomainStartEndE-ValueType
Pfam:DUF872 14 118 5.5e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028817
SMART Domains Protein: ENSMUSP00000028817
Gene: ENSMUSG00000027342

DomainStartEndE-ValueType
Pfam:PCNA_N 1 125 1.4e-61 PFAM
Pfam:Rad1 1 236 2e-10 PFAM
Pfam:Rad9 12 245 1.3e-9 PFAM
Pfam:PCNA_C 127 254 8.2e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110163
AA Change: D26E

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000105792
Gene: ENSMUSG00000027341
AA Change: D26E

DomainStartEndE-ValueType
Pfam:DUF872 14 118 5.5e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110164
AA Change: D26E

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000105793
Gene: ENSMUSG00000027341
AA Change: D26E

DomainStartEndE-ValueType
Pfam:DUF872 14 118 5.5e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140338
Predicted Effect probably benign
Transcript: ENSMUST00000180286
AA Change: D26E

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000136826
Gene: ENSMUSG00000027341
AA Change: D26E

DomainStartEndE-ValueType
Pfam:DUF872 3 118 1.7e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143782
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,003,855 (GRCm39) E649G probably damaging Het
Adgre1 C A 17: 57,726,335 (GRCm39) T402K probably benign Het
Agap3 A G 5: 24,706,000 (GRCm39) probably benign Het
Amy1 T C 3: 113,349,689 (GRCm39) I494V probably benign Het
Arhgef40 G A 14: 52,229,155 (GRCm39) probably null Het
Atp2c2 T C 8: 120,472,329 (GRCm39) V461A probably benign Het
Bub1 A G 2: 127,652,583 (GRCm39) S595P probably damaging Het
Cdcp3 T A 7: 130,844,836 (GRCm39) Y692* probably null Het
Cmya5 C T 13: 93,234,414 (GRCm39) V225I probably benign Het
Cnbd1 T C 4: 18,906,988 (GRCm39) probably benign Het
Cux1 A T 5: 136,340,345 (GRCm39) probably benign Het
Dsg3 T A 18: 20,656,664 (GRCm39) I178N probably benign Het
Dus2 T A 8: 106,752,533 (GRCm39) probably null Het
Enpp1 G A 10: 24,529,929 (GRCm39) H570Y probably damaging Het
Ephb3 A C 16: 21,036,044 (GRCm39) T57P probably benign Het
Fat3 C A 9: 15,910,390 (GRCm39) V1871F possibly damaging Het
Fbll1 T C 11: 35,688,874 (GRCm39) T130A probably benign Het
Fbxl20 C T 11: 98,001,800 (GRCm39) S99N probably damaging Het
Folr2 T C 7: 101,489,593 (GRCm39) E182G probably damaging Het
Fras1 A G 5: 96,703,080 (GRCm39) D281G probably benign Het
Gm17175 G T 14: 51,810,526 (GRCm39) Q34K possibly damaging Het
Gm5592 T A 7: 40,938,519 (GRCm39) D600E probably damaging Het
Gtf2e1 T C 16: 37,336,092 (GRCm39) E294G probably benign Het
Gtf3c2 A G 5: 31,327,517 (GRCm39) probably benign Het
Heg1 T C 16: 33,530,977 (GRCm39) L151P probably damaging Het
Hmcn2 T G 2: 31,319,006 (GRCm39) V3902G probably damaging Het
Ift140 A G 17: 25,237,776 (GRCm39) Y4C probably damaging Het
Ighv1-19 A C 12: 114,672,569 (GRCm39) V17G possibly damaging Het
Iqca1 T A 1: 89,973,379 (GRCm39) I770F probably benign Het
Jak3 T A 8: 72,131,656 (GRCm39) C115S probably benign Het
Kif18b A T 11: 102,805,501 (GRCm39) M252K probably damaging Het
Klhdc7a A T 4: 139,694,236 (GRCm39) V237D probably benign Het
Klhl11 C T 11: 100,354,031 (GRCm39) V597I possibly damaging Het
Krt72 T A 15: 101,689,396 (GRCm39) Y312F probably damaging Het
Lonp2 T A 8: 87,360,600 (GRCm39) I191N probably damaging Het
Npc2 A T 12: 84,819,619 (GRCm39) I8N possibly damaging Het
Nr4a1 T C 15: 101,170,669 (GRCm39) L413P probably damaging Het
Nup133 T C 8: 124,638,645 (GRCm39) N895S probably damaging Het
Or7e175 T C 9: 20,048,531 (GRCm39) F40L probably benign Het
Ppef1 A G X: 159,468,290 (GRCm39) I94T probably benign Het
Prrt4 G A 6: 29,176,455 (GRCm39) T290I probably benign Het
Ptpru A T 4: 131,499,927 (GRCm39) V1239E probably damaging Het
Rab8b T G 9: 66,760,274 (GRCm39) M117L probably benign Het
S1pr5 T A 9: 21,155,512 (GRCm39) I305F possibly damaging Het
Sdr39u1 A G 14: 56,135,463 (GRCm39) V160A probably damaging Het
Slc6a21 C T 7: 44,937,668 (GRCm39) T653M probably benign Het
Stk39 T A 2: 68,042,302 (GRCm39) E544D probably benign Het
Tgfbr3 T C 5: 107,290,367 (GRCm39) T313A probably benign Het
Tle6 A T 10: 81,430,292 (GRCm39) L287M probably damaging Het
Tmc2 A G 2: 130,105,932 (GRCm39) H821R probably benign Het
Tnfaip3 A G 10: 18,880,885 (GRCm39) F394S probably damaging Het
Ttn T A 2: 76,641,721 (GRCm39) L13458F probably damaging Het
Vwa5a A T 9: 38,634,675 (GRCm39) N161I probably benign Het
Wdr87-ps C A 7: 29,236,888 (GRCm39) noncoding transcript Het
Other mutations in Tmem230
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5114:Tmem230 UTSW 2 132,087,871 (GRCm39) splice site probably benign
R5738:Tmem230 UTSW 2 132,086,048 (GRCm39) missense possibly damaging 0.48
R8028:Tmem230 UTSW 2 132,085,985 (GRCm39) missense probably benign 0.39
R9135:Tmem230 UTSW 2 132,085,989 (GRCm39) missense probably benign
Posted On 2013-04-17