Incidental Mutation 'IGL01710:Gm6483'
ID104740
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm6483
Ensembl Gene ENSMUSG00000087153
Gene Namepredicted gene 6483
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.473) question?
Stock #IGL01710
Quality Score
Status
Chromosome8
Chromosomal Location19682268-19698275 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 19691613 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 55 (P55S)
Gene Model predicted gene model for transcript(s):
Predicted Effect probably damaging
Transcript: ENSMUST00000127799
AA Change: P55S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119559
Gene: ENSMUSG00000087153
AA Change: P55S

DomainStartEndE-ValueType
CA 30 115 1.02e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133001
AA Change: P258S
Predicted Effect probably damaging
Transcript: ENSMUST00000153710
AA Change: P55S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116798
Gene: ENSMUSG00000087153
AA Change: P55S

DomainStartEndE-ValueType
CA 30 115 1.02e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155660
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 G A 18: 61,871,574 T48I probably damaging Het
Ccpg1 T C 9: 72,997,441 probably benign Het
Chkb G A 15: 89,426,640 Q379* probably null Het
Chst15 T A 7: 132,270,507 D15V probably benign Het
Cntn4 G A 6: 106,550,431 V425I possibly damaging Het
Cpa6 T A 1: 10,325,272 N390I probably damaging Het
Efhd2 A G 4: 141,860,561 F193S probably damaging Het
Ell3 T C 2: 121,441,512 H128R probably damaging Het
Ercc5 T G 1: 44,164,075 L291V probably damaging Het
Eva1c A G 16: 90,904,347 Y302C probably damaging Het
Fmo3 A C 1: 162,983,043 L26R probably damaging Het
Galntl6 T A 8: 58,535,968 D17V probably damaging Het
Gstt2 A G 10: 75,833,745 probably benign Het
Hmcn2 T A 2: 31,343,102 L221Q probably damaging Het
Hoxa3 T C 6: 52,170,574 probably benign Het
Kctd12b T C X: 153,689,483 D70G probably damaging Het
Kdm7a T A 6: 39,175,386 E125D probably benign Het
Klk1b21 T A 7: 44,106,495 F249L probably benign Het
Mrpl41 T C 2: 24,974,417 D81G possibly damaging Het
Nomo1 T A 7: 46,038,556 L82Q probably damaging Het
Olfr482 G T 7: 108,095,242 F109L probably benign Het
Papolg A T 11: 23,864,026 S718T probably damaging Het
Pex6 A G 17: 46,725,326 probably benign Het
Pi4k2a T A 19: 42,104,979 L253Q probably damaging Het
Prdx6b T A 2: 80,293,146 F100I probably damaging Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Ptgfrn T C 3: 101,073,088 E312G probably damaging Het
Rasgrf1 A G 9: 89,991,692 I685V probably benign Het
Setdb1 T C 3: 95,338,853 E586G probably damaging Het
Sez6l2 C A 7: 126,968,216 T841K probably damaging Het
Slc25a17 A T 15: 81,327,326 L163* probably null Het
Slc35f3 A T 8: 126,389,161 I276F probably benign Het
Tcerg1l T A 7: 138,395,060 K149N possibly damaging Het
Tex28 T A X: 74,152,333 K278* probably null Het
Tmprss9 A G 10: 80,897,959 probably benign Het
Tnfaip8l1 A G 17: 56,171,782 K24R probably benign Het
Trim36 T C 18: 46,188,388 probably benign Het
Uba1 C T X: 20,671,365 T274I possibly damaging Het
Ubr2 T C 17: 46,943,409 T1439A probably benign Het
Ubr4 A G 4: 139,418,461 D1523G possibly damaging Het
Uchl4 A T 9: 64,235,506 T90S probably benign Het
Other mutations in Gm6483
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Gm6483 APN 8 19691647 splice site noncoding transcript
IGL02275:Gm6483 APN 8 19691613 missense probably damaging 1.00
IGL02676:Gm6483 APN 8 19693659 exon noncoding transcript
R0617:Gm6483 UTSW 8 19693709 missense probably damaging 1.00
R4152:Gm6483 UTSW 8 19687910 splice site noncoding transcript
R5043:Gm6483 UTSW 8 19693670 missense probably benign 0.34
Posted On2014-01-21