Incidental Mutation 'IGL02677:Trim30a'
ID303173
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim30a
Ensembl Gene ENSMUSG00000030921
Gene Nametripartite motif-containing 30A
SynonymsRpt-1, Rpt1, Trim30
Accession Numbers

Ncbi RefSeq: NM_009099.2; MGI:98178

Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL02677
Quality Score
Status
Chromosome7
Chromosomal Location104409025-104465193 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 104435913 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 30 (C30Y)
Ref Sequence ENSEMBL: ENSMUSP00000076189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076922]
PDB Structure
Solution structure of the Zinc finger, C3HC4 type (RING finger) domain Tripartite motif protein 30 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000076922
AA Change: C30Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076189
Gene: ENSMUSG00000030921
AA Change: C30Y

DomainStartEndE-ValueType
RING 15 58 2.88e-10 SMART
BBOX 91 132 3.52e-14 SMART
coiled coil region 173 241 N/A INTRINSIC
low complexity region 255 265 N/A INTRINSIC
Pfam:SPRY 349 493 1.6e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice show increased CD4/CD8 ratio with age, an abnormal CD4+ T cell response upon TCR activation, and reduced effector function of CD4+ T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik G T 7: 43,501,095 Y84* probably null Het
4931406P16Rik T A 7: 34,242,409 probably benign Het
Adam5 A G 8: 24,812,379 probably benign Het
Aipl1 T C 11: 72,029,396 E282G possibly damaging Het
Akp3 A G 1: 87,125,272 D61G probably damaging Het
Anpep A G 7: 79,838,730 S451P probably damaging Het
Csnka2ip A G 16: 64,478,312 L119P probably damaging Het
Ddx19a T C 8: 110,989,609 E53G probably benign Het
Ddx50 C T 10: 62,616,293 R116Q unknown Het
Ddx60 A T 8: 61,988,132 E1078D probably damaging Het
Dpy19l1 T C 9: 24,485,072 D116G probably damaging Het
Dsg4 A G 18: 20,464,876 T668A possibly damaging Het
Dspp A G 5: 104,175,977 T329A possibly damaging Het
Eftud2 T C 11: 102,846,614 T554A probably damaging Het
Enpp1 T C 10: 24,679,185 probably benign Het
Ext2 A T 2: 93,707,245 F599I probably damaging Het
Fahd1 A T 17: 24,849,530 I191N probably damaging Het
Fcrls A T 3: 87,259,387 S100T probably benign Het
Fras1 T A 5: 96,545,024 C181S probably damaging Het
Gcnt4 A G 13: 96,947,233 I346V probably benign Het
Gfra1 G A 19: 58,453,355 T48I probably damaging Het
Kcnma1 A G 14: 23,463,156 Y392H probably damaging Het
Klc2 T C 19: 5,111,668 Y298C probably damaging Het
Lamb3 G A 1: 193,339,522 V1011I probably benign Het
Ldb1 T C 19: 46,036,155 probably benign Het
Mcph1 A G 8: 18,625,593 K11E probably damaging Het
Myc A G 15: 61,989,664 H374R probably damaging Het
Myom1 A G 17: 71,084,349 Y853C probably damaging Het
Olfr1282 A T 2: 111,335,802 I92N probably damaging Het
Pakap C T 4: 57,856,263 P572S probably benign Het
Pclo A G 5: 14,676,929 probably benign Het
Pde3a G A 6: 141,405,172 probably benign Het
Per1 T C 11: 69,106,660 V887A probably benign Het
Prokr1 G A 6: 87,588,368 probably benign Het
Rb1cc1 A G 1: 6,249,419 I1021V probably benign Het
Ryr1 T C 7: 29,110,608 E344G probably benign Het
Sec24c A T 14: 20,689,642 D529V probably damaging Het
Slc1a6 T C 10: 78,789,064 V101A probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tap2 G A 17: 34,212,047 V374M probably benign Het
Tex15 T A 8: 33,571,080 D179E probably benign Het
Tmem8b T C 4: 43,686,092 L241P probably damaging Het
Tmprss11g T C 5: 86,492,290 D160G probably benign Het
Ttn A G 2: 76,771,496 probably benign Het
Ush2a A G 1: 188,734,685 R2849G probably damaging Het
Usp5 A G 6: 124,819,426 V570A probably damaging Het
Vipr1 T C 9: 121,660,283 probably benign Het
Zc2hc1c A C 12: 85,290,076 D169A probably benign Het
Other mutations in Trim30a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02944:Trim30a APN 7 104435777 missense probably benign 0.19
IGL03135:Trim30a APN 7 104411141 missense probably damaging 0.98
R0049:Trim30a UTSW 7 104429352 critical splice acceptor site probably null
R0049:Trim30a UTSW 7 104429352 critical splice acceptor site probably null
R0682:Trim30a UTSW 7 104429182 missense probably damaging 1.00
R1773:Trim30a UTSW 7 104435901 missense probably damaging 1.00
R1862:Trim30a UTSW 7 104411198 missense probably damaging 0.99
R1872:Trim30a UTSW 7 104429210 missense probably benign 0.01
R1986:Trim30a UTSW 7 104411465 missense probably damaging 1.00
R1991:Trim30a UTSW 7 104430230 splice site probably benign
R2259:Trim30a UTSW 7 104411504 missense probably damaging 1.00
R2571:Trim30a UTSW 7 104429326 missense possibly damaging 0.93
R3719:Trim30a UTSW 7 104411163 missense probably benign 0.00
R3880:Trim30a UTSW 7 104411189 missense probably benign
R3910:Trim30a UTSW 7 104411141 missense probably damaging 0.98
R3911:Trim30a UTSW 7 104411141 missense probably damaging 0.98
R3912:Trim30a UTSW 7 104411141 missense probably damaging 0.98
R4343:Trim30a UTSW 7 104435592 missense probably benign 0.00
R4572:Trim30a UTSW 7 104411188 nonsense probably null
R4587:Trim30a UTSW 7 104435644 nonsense probably null
R4997:Trim30a UTSW 7 104411620 missense probably benign 0.21
R5051:Trim30a UTSW 7 104411706 intron probably benign
R5414:Trim30a UTSW 7 104411141 missense probably damaging 1.00
R5613:Trim30a UTSW 7 104430182 missense probably damaging 1.00
R5930:Trim30a UTSW 7 104421450 missense possibly damaging 0.95
R6262:Trim30a UTSW 7 104411534 missense probably benign 0.00
R7133:Trim30a UTSW 7 104429326 missense possibly damaging 0.93
X0012:Trim30a UTSW 7 104430203 nonsense probably null
Z1088:Trim30a UTSW 7 104435654 missense probably damaging 1.00
Posted On2015-04-16