Incidental Mutation 'IGL02389:Trim30c'
ID291690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim30c
Ensembl Gene ENSMUSG00000078616
Gene Nametripartite motif-containing 30C
SynonymsGm5598, Trim30-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #IGL02389
Quality Score
Status
Chromosome7
Chromosomal Location104382065-104400837 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104382174 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 478 (F478S)
Ref Sequence ENSEMBL: ENSMUSP00000102441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106828]
Predicted Effect probably benign
Transcript: ENSMUST00000106828
AA Change: F478S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102441
Gene: ENSMUSG00000078616
AA Change: F478S

DomainStartEndE-ValueType
RING 16 59 2.51e-10 SMART
BBOX 92 133 2.02e-14 SMART
low complexity region 197 229 N/A INTRINSIC
Pfam:SPRY 356 495 1.9e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G A 5: 63,896,483 S11N probably null Het
Aqp9 T C 9: 71,122,906 I200V possibly damaging Het
BC100530 C A 16: 36,367,486 V6F possibly damaging Het
Cntn2 T C 1: 132,525,321 E411G probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dennd3 A G 15: 73,567,056 D1091G probably damaging Het
Dock2 T C 11: 34,698,740 probably benign Het
Dscam T A 16: 96,640,897 I1577F probably benign Het
Egflam A T 15: 7,250,078 N482K probably benign Het
Fam216a T C 5: 122,367,511 T129A probably damaging Het
Fbxo40 T C 16: 36,969,774 M325V probably benign Het
Fbxw8 C T 5: 118,128,955 V148M possibly damaging Het
Fcgbp C T 7: 28,075,171 R57C probably damaging Het
Gnpnat1 A G 14: 45,380,931 probably null Het
Gria2 T C 3: 80,709,422 T408A probably benign Het
H2-T3 A G 17: 36,186,608 M59T probably benign Het
Jakmip1 C T 5: 37,100,843 Q278* probably null Het
Krtap21-1 C T 16: 89,403,424 G110D unknown Het
Myo7a C T 7: 98,106,991 probably null Het
Nlrp9c T A 7: 26,394,207 Q11L probably benign Het
Olfr1442 A T 19: 12,674,535 D110V probably benign Het
Olfr298 A G 7: 86,489,128 L141P probably damaging Het
Olfr767 A C 10: 129,079,230 I244M probably damaging Het
Olfr790 T A 10: 129,501,070 M62K probably benign Het
Pdzd8 A G 19: 59,301,393 I525T probably benign Het
Pign A T 1: 105,646,781 L280* probably null Het
Pik3r4 T G 9: 105,650,331 I294M possibly damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Prmt3 C T 7: 49,848,758 Q471* probably null Het
Prrc2c A G 1: 162,692,870 F2006L probably damaging Het
Ptger3 C T 3: 157,567,171 R52C probably damaging Het
Rfx2 T C 17: 56,808,325 probably benign Het
Sh3bp4 T C 1: 89,145,148 F573L probably damaging Het
Slc18a2 G T 19: 59,263,301 probably benign Het
Slc26a8 T A 17: 28,638,650 I840F probably benign Het
Slc5a4b A T 10: 76,072,465 Y364* probably null Het
Slitrk1 A G 14: 108,912,322 I319T probably benign Het
Stxbp5l C T 16: 37,208,205 A499T probably benign Het
Tnks2 T A 19: 36,884,103 S951R probably benign Het
Tyro3 C T 2: 119,804,864 probably benign Het
Vmn1r34 A T 6: 66,637,058 L232Q probably damaging Het
Zfp148 T A 16: 33,495,446 C215S probably damaging Het
Zzef1 C T 11: 72,891,217 P1995S probably benign Het
Zzef1 T A 11: 72,899,538 V2106D possibly damaging Het
Other mutations in Trim30c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Trim30c APN 7 104382182 nonsense probably null
IGL00573:Trim30c APN 7 104382631 missense possibly damaging 0.66
IGL01023:Trim30c APN 7 104382972 splice site probably benign
IGL01413:Trim30c APN 7 104382334 missense possibly damaging 0.85
IGL01418:Trim30c APN 7 104382334 missense possibly damaging 0.85
IGL02330:Trim30c APN 7 104382958 missense possibly damaging 0.61
IGL03107:Trim30c APN 7 104382613 missense possibly damaging 0.95
R0195:Trim30c UTSW 7 104382429 missense probably benign
R0324:Trim30c UTSW 7 104383309 missense possibly damaging 0.79
R0826:Trim30c UTSW 7 104383481 missense probably benign 0.01
R0865:Trim30c UTSW 7 104390451 missense probably damaging 1.00
R1484:Trim30c UTSW 7 104383252 missense probably benign 0.00
R1513:Trim30c UTSW 7 104382689 missense probably benign 0.04
R1563:Trim30c UTSW 7 104382951 missense probably benign 0.00
R2220:Trim30c UTSW 7 104383267 missense probably benign
R2442:Trim30c UTSW 7 104382274 missense probably damaging 1.00
R5326:Trim30c UTSW 7 104388304 missense possibly damaging 0.89
R5777:Trim30c UTSW 7 104383331 missense probably benign 0.08
R6118:Trim30c UTSW 7 104382081 missense probably benign 0.01
R6257:Trim30c UTSW 7 104390168 missense probably damaging 1.00
R6374:Trim30c UTSW 7 104390402 missense probably benign 0.01
R7387:Trim30c UTSW 7 104390190 missense probably damaging 1.00
R7419:Trim30c UTSW 7 104388265 missense probably benign 0.11
R7500:Trim30c UTSW 7 104387551 missense probably benign 0.00
R7542:Trim30c UTSW 7 104382218 missense possibly damaging 0.95
Posted On2015-04-16