Incidental Mutation 'IGL02430:Gm12800'
ID293084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm12800
Ensembl Gene ENSMUSG00000037028
Gene Namepredicted gene 12800
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL02430
Quality Score
Status
Chromosome4
Chromosomal Location101909121-101911908 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101910280 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 242 (Y242C)
Ref Sequence ENSEMBL: ENSMUSP00000075380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075999]
Predicted Effect probably benign
Transcript: ENSMUST00000075999
AA Change: Y242C

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000075380
Gene: ENSMUSG00000037028
AA Change: Y242C

DomainStartEndE-ValueType
SCOP:d1a4ya_ 206 410 9e-11 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap33 T C 7: 30,522,760 E1249G probably benign Het
C8a G A 4: 104,817,522 T540I probably damaging Het
Clcnkb C A 4: 141,409,390 W388L possibly damaging Het
Cnbp A T 6: 87,845,178 Y114* probably null Het
Col13a1 A G 10: 61,874,751 V337A probably benign Het
Cyp2e1 A G 7: 140,770,226 K275E probably damaging Het
Dchs1 A G 7: 105,771,971 V414A probably benign Het
Ebf1 G A 11: 44,924,576 probably null Het
Gabbr1 C T 17: 37,056,308 R198* probably null Het
Gpaa1 T C 15: 76,332,188 S36P possibly damaging Het
Hipk1 A G 3: 103,760,655 V532A probably damaging Het
Klhl18 A T 9: 110,437,401 C217S probably benign Het
Lmntd1 T A 6: 145,413,414 T191S probably benign Het
Ltbp2 T A 12: 84,799,401 Y925F probably damaging Het
Lvrn A G 18: 46,894,730 I871V probably benign Het
Mrgprb1 A G 7: 48,447,661 S168P possibly damaging Het
Olfr495 A T 7: 108,395,722 I201F probably benign Het
Olfr739 A G 14: 50,425,151 I211V probably benign Het
Pcnx T A 12: 81,919,322 N754K possibly damaging Het
Plaa A T 4: 94,582,573 M442K probably benign Het
Pole3 T C 4: 62,524,819 N28S possibly damaging Het
Prlr A G 15: 10,325,391 K4E probably damaging Het
Rp1l1 A T 14: 64,029,286 T774S probably benign Het
Selp C A 1: 164,126,383 P84Q probably damaging Het
Sh3bp4 T A 1: 89,153,163 W901R probably null Het
Slc6a20b A G 9: 123,597,240 Y527H probably damaging Het
Slit3 T A 11: 35,177,774 probably null Het
Spidr C T 16: 16,114,910 D169N probably damaging Het
Sstr2 T C 11: 113,624,804 L183P probably damaging Het
Tmem62 C T 2: 120,986,662 T233I probably damaging Het
Uba7 A G 9: 107,979,468 probably benign Het
Ubc A T 5: 125,387,570 I231N probably damaging Het
Ubl3 A T 5: 148,551,956 D8E probably benign Het
Unc5a A G 13: 55,002,482 I465M probably damaging Het
Vmn2r106 A G 17: 20,278,896 I251T probably benign Het
Vwa8 T C 14: 78,934,645 probably null Het
Washc5 A G 15: 59,366,291 Y195H probably damaging Het
Wdr27 A C 17: 14,901,800 S615A probably damaging Het
Zfp160 T A 17: 21,025,530 L114H possibly damaging Het
Zfp523 T C 17: 28,195,139 probably benign Het
Other mutations in Gm12800
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02683:Gm12800 APN 4 101910354 missense probably benign 0.00
IGL03403:Gm12800 APN 4 101909928 missense probably benign 0.40
R0833:Gm12800 UTSW 4 101910097 missense probably damaging 0.97
R1054:Gm12800 UTSW 4 101909164 missense probably benign 0.00
R1953:Gm12800 UTSW 4 101910115 missense probably benign
R2216:Gm12800 UTSW 4 101910060 missense probably damaging 0.99
R3746:Gm12800 UTSW 4 101909876 missense possibly damaging 0.63
R3747:Gm12800 UTSW 4 101909876 missense possibly damaging 0.63
R3750:Gm12800 UTSW 4 101909876 missense possibly damaging 0.63
R4931:Gm12800 UTSW 4 101909170 missense possibly damaging 0.47
R5102:Gm12800 UTSW 4 101909239 missense probably damaging 1.00
R5586:Gm12800 UTSW 4 101910120 missense probably benign 0.00
R5822:Gm12800 UTSW 4 101910243 missense probably damaging 1.00
R6395:Gm12800 UTSW 4 101909992 missense probably benign
R6904:Gm12800 UTSW 4 101910094 missense possibly damaging 0.86
R7544:Gm12800 UTSW 4 101911402 missense possibly damaging 0.56
Z1088:Gm12800 UTSW 4 101910186 missense probably benign 0.00
Z1088:Gm12800 UTSW 4 101909118 unclassified probably null
Posted On2015-04-16