Incidental Mutation 'IGL02667:Tmem190'
ID 302773
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem190
Ensembl Gene ENSMUSG00000013091
Gene Name transmembrane protein 190
Synonyms 4930572D21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02667
Quality Score
Status
Chromosome 7
Chromosomal Location 4785936-4787340 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4786157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 20 (D20E)
Ref Sequence ENSEMBL: ENSMUSP00000013235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013235] [ENSMUST00000163481] [ENSMUST00000168578]
AlphaFold Q9D2E9
Predicted Effect probably benign
Transcript: ENSMUST00000013235
AA Change: D20E

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000013235
Gene: ENSMUSG00000013091
AA Change: D20E

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
Pfam:TMEM190 21 147 3.3e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163481
SMART Domains Protein: ENSMUSP00000131168
Gene: ENSMUSG00000004371

DomainStartEndE-ValueType
Pfam:IL11 1 140 2.1e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168578
SMART Domains Protein: ENSMUSP00000130452
Gene: ENSMUSG00000030431

DomainStartEndE-ValueType
Pfam:TMEM238 32 100 1.2e-32 PFAM
low complexity region 124 135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206395
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele are viable and fertile with no gross abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6530409C15Rik A G 6: 28,217,670 (GRCm39) noncoding transcript Het
Akr1e1 G A 13: 4,645,666 (GRCm39) P174L possibly damaging Het
Arf5 C A 6: 28,425,198 (GRCm39) N95K probably damaging Het
Atl3 T C 19: 7,486,781 (GRCm39) F39L possibly damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Cyp2a12 T C 7: 26,730,583 (GRCm39) S183P probably damaging Het
Dicer1 T A 12: 104,681,165 (GRCm39) R449S probably damaging Het
Dlec1 T C 9: 118,956,534 (GRCm39) I736T probably benign Het
Eny2 T A 15: 44,292,984 (GRCm39) M12K possibly damaging Het
Fbxl21 C T 13: 56,684,942 (GRCm39) R349C probably benign Het
Gstm2 A G 3: 107,893,424 (GRCm39) L13P probably damaging Het
Gucy2g G A 19: 55,194,609 (GRCm39) T936M possibly damaging Het
Mbp G T 18: 82,572,740 (GRCm39) K12N probably damaging Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Myo18a A G 11: 77,748,678 (GRCm39) probably benign Het
Nr2f2 T C 7: 70,007,733 (GRCm39) S117G probably damaging Het
Pi4k2b T C 5: 52,907,947 (GRCm39) probably benign Het
Pi4ka A G 16: 17,113,325 (GRCm39) F1504L possibly damaging Het
Ppm1d T C 11: 85,223,111 (GRCm39) W239R probably damaging Het
Setd1b T A 5: 123,295,560 (GRCm39) S1043T unknown Het
Tgfbrap1 T C 1: 43,106,780 (GRCm39) I298V probably benign Het
Tph2 A T 10: 114,915,950 (GRCm39) C408S probably benign Het
Trmt44 A C 5: 35,728,396 (GRCm39) Y295D probably damaging Het
Trpm2 C T 10: 77,771,776 (GRCm39) R621H probably damaging Het
Tut4 T C 4: 108,415,905 (GRCm39) probably benign Het
Ubn1 A G 16: 4,880,463 (GRCm39) E134G probably damaging Het
Other mutations in Tmem190
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Tmem190 APN 7 4,785,998 (GRCm39) unclassified probably benign
IGL01152:Tmem190 APN 7 4,787,025 (GRCm39) unclassified probably benign
R1647:Tmem190 UTSW 7 4,787,120 (GRCm39) missense probably damaging 1.00
R1717:Tmem190 UTSW 7 4,787,132 (GRCm39) missense probably damaging 0.98
R5712:Tmem190 UTSW 7 4,787,288 (GRCm39) missense probably damaging 1.00
R7132:Tmem190 UTSW 7 4,787,224 (GRCm39) missense probably benign 0.13
R8542:Tmem190 UTSW 7 4,787,157 (GRCm39) nonsense probably null
Posted On 2015-04-16