Incidental Mutation 'IGL02983:Tmem30a'
ID 406621
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem30a
Ensembl Gene ENSMUSG00000032328
Gene Name transmembrane protein 30A
Synonyms Cdc50a, D9Wsu20e, 2010200I23Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02983
Quality Score
Status
Chromosome 9
Chromosomal Location 79768943-79793507 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79771443 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 277 (M277K)
Ref Sequence ENSEMBL: ENSMUSP00000114042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034878] [ENSMUST00000120690]
AlphaFold Q8VEK0
Predicted Effect possibly damaging
Transcript: ENSMUST00000034878
AA Change: M313K

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034878
Gene: ENSMUSG00000032328
AA Change: M313K

DomainStartEndE-ValueType
low complexity region 13 23 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
Pfam:CDC50 69 358 1.3e-98 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120690
AA Change: M277K

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114042
Gene: ENSMUSG00000032328
AA Change: M277K

DomainStartEndE-ValueType
low complexity region 13 23 N/A INTRINSIC
Pfam:CDC50 50 325 3.4e-92 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153815
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Conditional homozygous knockout in the liver leads to jaundice, increased bilirubin and bile salt levels, liver inflammation and liver fibrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020D05Rik A G 19: 5,503,181 F191L possibly damaging Het
Abca13 A G 11: 9,290,663 N842S probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Brip1 T C 11: 86,139,124 I565V probably benign Het
Camta2 C T 11: 70,672,022 R959Q probably damaging Het
Cbln2 A G 18: 86,713,379 E104G probably benign Het
Cdc42ep4 T C 11: 113,729,169 K132R probably benign Het
Clcnka T A 4: 141,390,131 I452F probably damaging Het
Clec4a3 T A 6: 122,967,567 probably null Het
Crat A C 2: 30,404,526 probably null Het
Cspp1 A G 1: 10,127,525 K227R probably benign Het
Ddx1 A T 12: 13,223,862 I588N probably damaging Het
Dip2b G T 15: 100,132,022 R98L possibly damaging Het
Dock5 G A 14: 67,764,670 P1617L probably damaging Het
Fa2h C T 8: 111,346,522 probably null Het
Fezf1 T A 6: 23,247,872 N68I probably damaging Het
Gabrb2 A T 11: 42,421,400 L17F probably benign Het
Gm17078 T C 14: 51,611,190 K30R probably benign Het
Gramd4 G A 15: 86,127,018 V249M probably damaging Het
Kcnd2 A C 6: 21,216,555 D86A probably damaging Het
Lrp1 T C 10: 127,550,199 E3486G probably damaging Het
Ltb A G 17: 35,194,670 D50G probably benign Het
Med18 A T 4: 132,459,686 Y167* probably null Het
Nat14 G A 7: 4,924,128 A100T probably damaging Het
Nxph2 T C 2: 23,400,362 V242A probably damaging Het
Olfr338 T A 2: 36,377,637 I287N probably damaging Het
Olfr443-ps1 T C 6: 43,094,648 noncoding transcript Het
Olfr54 T C 11: 51,027,380 V126A probably damaging Het
Olfr818 T A 10: 129,945,189 N291I probably damaging Het
Pramef20 T C 4: 144,373,127 E356G probably benign Het
Rad21l A G 2: 151,655,120 L358S probably damaging Het
Rasgef1c A G 11: 49,957,049 T4A possibly damaging Het
Spata31d1a A G 13: 59,703,694 S207P possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Szt2 T C 4: 118,365,779 probably benign Het
Taf6 T C 5: 138,178,880 T642A probably benign Het
Vmn1r86 T C 7: 13,102,814 D45G probably damaging Het
Xkr5 T C 8: 18,933,832 I565V probably benign Het
Zfp526 C T 7: 25,224,415 A33V probably benign Het
Other mutations in Tmem30a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01300:Tmem30a APN 9 79775100 critical splice donor site probably null
IGL01701:Tmem30a APN 9 79774179 missense probably damaging 1.00
IGL02043:Tmem30a APN 9 79774089 splice site probably benign
IGL02319:Tmem30a APN 9 79774203 missense probably damaging 1.00
IGL02629:Tmem30a APN 9 79776249 splice site probably benign
Imbroglio UTSW 9 79774265 nonsense probably null
ladyfinger UTSW 9 79774212 missense probably damaging 1.00
R0085:Tmem30a UTSW 9 79771294 missense probably benign 0.02
R0496:Tmem30a UTSW 9 79777285 missense probably damaging 1.00
R0498:Tmem30a UTSW 9 79774094 nonsense probably null
R1546:Tmem30a UTSW 9 79771288 makesense probably null
R1648:Tmem30a UTSW 9 79793029 missense probably damaging 1.00
R2018:Tmem30a UTSW 9 79774218 missense probably damaging 1.00
R2019:Tmem30a UTSW 9 79774218 missense probably damaging 1.00
R2259:Tmem30a UTSW 9 79774164 missense probably benign 0.13
R2260:Tmem30a UTSW 9 79774164 missense probably benign 0.13
R4491:Tmem30a UTSW 9 79777285 missense probably damaging 1.00
R4492:Tmem30a UTSW 9 79777285 missense probably damaging 1.00
R5289:Tmem30a UTSW 9 79776154 missense probably damaging 0.99
R5433:Tmem30a UTSW 9 79780648 missense probably damaging 0.98
R6707:Tmem30a UTSW 9 79774265 nonsense probably null
R7662:Tmem30a UTSW 9 79775231 missense probably benign
R7732:Tmem30a UTSW 9 79780544 missense possibly damaging 0.49
R8100:Tmem30a UTSW 9 79774150 missense probably benign 0.00
R8202:Tmem30a UTSW 9 79774212 missense probably damaging 1.00
R8413:Tmem30a UTSW 9 79776225 missense probably damaging 1.00
R9092:Tmem30a UTSW 9 79771299 missense probably damaging 0.96
Posted On 2016-08-02