Incidental Mutation 'IGL01300:Tmem30a'
ID 75249
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem30a
Ensembl Gene ENSMUSG00000032328
Gene Name transmembrane protein 30A
Synonyms Cdc50a, 2010200I23Rik, D9Wsu20e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01300
Quality Score
Status
Chromosome 9
Chromosomal Location 79676223-79700712 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 79682382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034878] [ENSMUST00000120690]
AlphaFold Q8VEK0
Predicted Effect probably null
Transcript: ENSMUST00000034878
SMART Domains Protein: ENSMUSP00000034878
Gene: ENSMUSG00000032328

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 probably null
Transcript: ENSMUST00000120690
SMART Domains Protein: ENSMUSP00000114042
Gene: ENSMUSG00000032328

DomainStartEndE-ValueType
low complexity region 13 23 N/A INTRINSIC
Pfam:CDC50 50 325 3.4e-92 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130419
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa8 A G 14: 33,821,700 (GRCm39) D300G probably benign Het
Cacna1g T C 11: 94,324,738 (GRCm39) H1161R probably benign Het
Col14a1 G A 15: 55,331,372 (GRCm39) R1471Q unknown Het
Gm14496 A T 2: 181,642,753 (GRCm39) E808V probably damaging Het
Gm1968 T C 16: 29,781,038 (GRCm39) noncoding transcript Het
Gzmb G A 14: 56,497,653 (GRCm39) R196C probably benign Het
Hkdc1 A G 10: 62,231,040 (GRCm39) probably benign Het
Itgal T A 7: 126,913,290 (GRCm39) V629E probably damaging Het
Jak2 T A 19: 29,287,083 (GRCm39) Y1050N probably damaging Het
Lrrc69 C T 4: 14,773,663 (GRCm39) probably benign Het
Mmd T C 11: 90,140,537 (GRCm39) M1T probably null Het
Myh6 A G 14: 55,200,548 (GRCm39) V191A possibly damaging Het
Mynn A G 3: 30,667,755 (GRCm39) N485S probably damaging Het
Naa30 C T 14: 49,410,714 (GRCm39) T214M probably damaging Het
Ncoa3 A T 2: 165,910,381 (GRCm39) T1265S probably benign Het
Or10al2 C A 17: 37,983,778 (GRCm39) T288K probably damaging Het
Or1j10 T C 2: 36,267,054 (GRCm39) S89P probably benign Het
Prex1 A G 2: 166,480,327 (GRCm39) C138R possibly damaging Het
Prom2 A T 2: 127,377,009 (GRCm39) L535H probably benign Het
Pros1 T C 16: 62,734,174 (GRCm39) F327L possibly damaging Het
Ros1 A G 10: 51,977,809 (GRCm39) M1479T probably benign Het
Scn9a G A 2: 66,318,397 (GRCm39) Q1465* probably null Het
Serpinb3b A G 1: 107,083,573 (GRCm39) probably benign Het
Sipa1l3 G A 7: 29,099,253 (GRCm39) Q339* probably null Het
Slc34a2 A C 5: 53,225,469 (GRCm39) probably null Het
Smc3 T A 19: 53,630,283 (GRCm39) probably benign Het
Trappc11 A T 8: 47,954,903 (GRCm39) D878E probably benign Het
Trrap C T 5: 144,741,628 (GRCm39) T1325M probably damaging Het
Ttc12 A T 9: 49,359,222 (GRCm39) probably benign Het
Vmn1r237 T A 17: 21,534,337 (GRCm39) I20N probably damaging Het
Vmn2r115 T A 17: 23,578,755 (GRCm39) S743T probably damaging Het
Vmn2r74 A G 7: 85,606,414 (GRCm39) Y311H probably benign Het
Vnn3 T A 10: 23,740,263 (GRCm39) F189I possibly damaging Het
Other mutations in Tmem30a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01701:Tmem30a APN 9 79,681,461 (GRCm39) missense probably damaging 1.00
IGL02043:Tmem30a APN 9 79,681,371 (GRCm39) splice site probably benign
IGL02319:Tmem30a APN 9 79,681,485 (GRCm39) missense probably damaging 1.00
IGL02629:Tmem30a APN 9 79,683,531 (GRCm39) splice site probably benign
IGL02983:Tmem30a APN 9 79,678,725 (GRCm39) missense possibly damaging 0.90
Imbroglio UTSW 9 79,681,547 (GRCm39) nonsense probably null
ladyfinger UTSW 9 79,681,494 (GRCm39) missense probably damaging 1.00
R0085:Tmem30a UTSW 9 79,678,576 (GRCm39) missense probably benign 0.02
R0496:Tmem30a UTSW 9 79,684,567 (GRCm39) missense probably damaging 1.00
R0498:Tmem30a UTSW 9 79,681,376 (GRCm39) nonsense probably null
R1546:Tmem30a UTSW 9 79,678,570 (GRCm39) makesense probably null
R1648:Tmem30a UTSW 9 79,700,311 (GRCm39) missense probably damaging 1.00
R2018:Tmem30a UTSW 9 79,681,500 (GRCm39) missense probably damaging 1.00
R2019:Tmem30a UTSW 9 79,681,500 (GRCm39) missense probably damaging 1.00
R2259:Tmem30a UTSW 9 79,681,446 (GRCm39) missense probably benign 0.13
R2260:Tmem30a UTSW 9 79,681,446 (GRCm39) missense probably benign 0.13
R4491:Tmem30a UTSW 9 79,684,567 (GRCm39) missense probably damaging 1.00
R4492:Tmem30a UTSW 9 79,684,567 (GRCm39) missense probably damaging 1.00
R5289:Tmem30a UTSW 9 79,683,436 (GRCm39) missense probably damaging 0.99
R5433:Tmem30a UTSW 9 79,687,930 (GRCm39) missense probably damaging 0.98
R6707:Tmem30a UTSW 9 79,681,547 (GRCm39) nonsense probably null
R7662:Tmem30a UTSW 9 79,682,513 (GRCm39) missense probably benign
R7732:Tmem30a UTSW 9 79,687,826 (GRCm39) missense possibly damaging 0.49
R8100:Tmem30a UTSW 9 79,681,432 (GRCm39) missense probably benign 0.00
R8202:Tmem30a UTSW 9 79,681,494 (GRCm39) missense probably damaging 1.00
R8413:Tmem30a UTSW 9 79,683,507 (GRCm39) missense probably damaging 1.00
R9092:Tmem30a UTSW 9 79,678,581 (GRCm39) missense probably damaging 0.96
R9621:Tmem30a UTSW 9 79,687,926 (GRCm39) missense probably benign 0.30
R9760:Tmem30a UTSW 9 79,687,874 (GRCm39) missense probably benign 0.08
Posted On 2013-10-07