Incidental Mutation 'IGL01701:Tmem30a'
ID104483
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem30a
Ensembl Gene ENSMUSG00000032328
Gene Nametransmembrane protein 30A
SynonymsCdc50a, D9Wsu20e, 2010200I23Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.783) question?
Stock #IGL01701
Quality Score
Status
Chromosome9
Chromosomal Location79768943-79793507 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 79774179 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 236 (F236Y)
Ref Sequence ENSEMBL: ENSMUSP00000114042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034878] [ENSMUST00000120690]
Predicted Effect probably damaging
Transcript: ENSMUST00000034878
AA Change: F272Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034878
Gene: ENSMUSG00000032328
AA Change: F272Y

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 damaging
Transcript: ENSMUST00000120690
AA Change: F236Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114042
Gene: ENSMUSG00000032328
AA Change: F236Y

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik T G 12: 55,308,875 probably benign Het
2410089E03Rik T C 15: 8,203,257 probably benign Het
4930568D16Rik A G 2: 35,364,764 Y36H possibly damaging Het
Adgrv1 T C 13: 81,419,631 D5141G possibly damaging Het
Adk G A 14: 21,103,854 E42K probably damaging Het
Akap1 C A 11: 88,845,132 V268L probably benign Het
Arl6ip5 A G 6: 97,210,813 probably benign Het
Atrx A G X: 105,830,920 S1945P probably damaging Het
Clec5a G A 6: 40,582,226 probably benign Het
Cul3 G T 1: 80,277,423 H6Q probably damaging Het
D11Wsu47e T C 11: 113,689,101 F441L probably benign Het
E330021D16Rik T A 6: 136,400,806 Y342F probably damaging Het
Fn1 T C 1: 71,629,853 probably benign Het
Furin C A 7: 80,392,492 V452F probably benign Het
Furin T A 7: 80,390,759 D777V probably benign Het
Hmgb4 G A 4: 128,260,373 T134I probably benign Het
Ift74 A T 4: 94,662,658 E349V possibly damaging Het
Igkv6-23 A T 6: 70,260,896 L13Q probably damaging Het
Lekr1 A T 3: 65,684,004 Y54F probably damaging Het
Lman1 A T 18: 65,994,850 V241E possibly damaging Het
Mat1a T A 14: 41,114,815 D167E probably benign Het
Myl6 G A 10: 128,492,097 A130V probably damaging Het
Myo9a T C 9: 59,884,594 probably null Het
Nlrp4f A T 13: 65,199,409 W12R probably damaging Het
Nr1h4 T C 10: 89,478,807 R276G probably benign Het
Olfr1026 C A 2: 85,924,077 Q270K possibly damaging Het
Olfr1314 T C 2: 112,092,506 N65S possibly damaging Het
Pag1 C T 3: 9,693,826 E411K probably damaging Het
Rttn A G 18: 89,064,215 N1422D probably damaging Het
Ryr1 C T 7: 29,059,810 R3345Q probably damaging Het
Slc12a8 T C 16: 33,540,910 L85P probably damaging Het
Slc22a17 T C 14: 54,907,261 H565R probably damaging Het
Slc46a3 T C 5: 147,886,298 T245A probably benign Het
Thsd7b A G 1: 129,430,928 H33R probably benign Het
Tmem131 A G 1: 36,808,237 V1260A probably benign Het
Trim30b A C 7: 104,366,051 Y43* probably null Het
Trpc3 T C 3: 36,671,594 K78E possibly damaging Het
Twist2 A T 1: 91,802,014 M130L probably benign Het
Other mutations in Tmem30a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01300:Tmem30a APN 9 79775100 critical splice donor site probably null
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
IGL02983:Tmem30a APN 9 79771443 missense possibly damaging 0.90
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
Posted On2014-01-21