Incidental Mutation 'IGL01556:Gm8247'
ID 90725
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm8247
Ensembl Gene ENSMUSG00000091122
Gene Name predicted gene 8247
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL01556
Quality Score
Status
Chromosome 14
Chromosomal Location 44820610-44825859 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 44823811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 75 (K75*)
Ref Sequence ENSEMBL: ENSMUSP00000136003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178759] [ENSMUST00000227882] [ENSMUST00000228629]
AlphaFold J3KMT2
Predicted Effect probably null
Transcript: ENSMUST00000170094
AA Change: K166*
SMART Domains Protein: ENSMUSP00000132825
Gene: ENSMUSG00000091122
AA Change: K166*

DomainStartEndE-ValueType
Pfam:Takusan 57 137 1.6e-26 PFAM
coiled coil region 164 186 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000178759
AA Change: K75*
SMART Domains Protein: ENSMUSP00000136003
Gene: ENSMUSG00000091122
AA Change: K75*

DomainStartEndE-ValueType
Pfam:Takusan 5 45 8.1e-9 PFAM
coiled coil region 73 95 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226458
Predicted Effect probably benign
Transcript: ENSMUST00000227882
Predicted Effect probably benign
Transcript: ENSMUST00000228629
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 T C 8: 114,571,741 (GRCm39) I81V probably benign Het
Aoc1l1 A C 6: 48,952,618 (GRCm39) D181A possibly damaging Het
Armc3 T A 2: 19,273,957 (GRCm39) D330E probably damaging Het
Atp6v0b A G 4: 117,743,062 (GRCm39) F49S probably damaging Het
Atp8b3 A C 10: 80,366,802 (GRCm39) Y265* probably null Het
Cby2 A G 14: 75,821,551 (GRCm39) F16S probably damaging Het
Cdh11 A G 8: 103,406,276 (GRCm39) Y66H probably damaging Het
Cntn5 T A 9: 9,673,913 (GRCm39) M730L probably benign Het
Cntrl A G 2: 35,063,071 (GRCm39) T1556A probably benign Het
Dixdc1 A G 9: 50,617,434 (GRCm39) S128P probably damaging Het
Egfr T C 11: 16,855,382 (GRCm39) L889S probably damaging Het
F830045P16Rik A G 2: 129,305,640 (GRCm39) Y245H probably benign Het
Fam124a G A 14: 62,825,181 (GRCm39) C225Y probably damaging Het
Frem2 T C 3: 53,442,702 (GRCm39) T2612A probably benign Het
Gkap1 A T 13: 58,411,106 (GRCm39) I89N probably benign Het
Gpi-ps A G 8: 5,689,833 (GRCm39) noncoding transcript Het
Hdac11 T A 6: 91,150,162 (GRCm39) H320Q probably benign Het
Iyd A G 10: 3,497,091 (GRCm39) I149V probably benign Het
Krtap4-6 T A 11: 99,556,676 (GRCm39) Q17L unknown Het
Lrrc24 T A 15: 76,606,775 (GRCm39) D207V probably damaging Het
Mfsd12 G A 10: 81,198,858 (GRCm39) C425Y probably damaging Het
Muc5b A G 7: 141,416,977 (GRCm39) T3308A probably benign Het
Myo18b A G 5: 112,905,315 (GRCm39) probably benign Het
Ndufa6 C T 15: 82,238,282 (GRCm39) V50M possibly damaging Het
Nin A G 12: 70,089,962 (GRCm39) V1151A probably benign Het
Nrf1 A G 6: 30,126,366 (GRCm39) probably benign Het
Pcdhb20 T C 18: 37,637,852 (GRCm39) I126T possibly damaging Het
Pdgfra G T 5: 75,338,352 (GRCm39) L535F probably damaging Het
Pkn2 A T 3: 142,535,078 (GRCm39) I212K possibly damaging Het
Slc5a9 T A 4: 111,755,833 (GRCm39) T22S probably benign Het
Slitrk1 A G 14: 109,150,450 (GRCm39) L87S probably damaging Het
Syne2 C A 12: 76,134,589 (GRCm39) R29S probably damaging Het
Zc3h12b C A X: 94,970,721 (GRCm39) F551L probably damaging Het
Zfp664 C A 5: 124,963,252 (GRCm39) C215* probably null Het
Other mutations in Gm8247
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01982:Gm8247 APN 14 44,823,088 (GRCm39) missense probably damaging 0.98
R7185:Gm8247 UTSW 14 44,823,859 (GRCm39) missense
R8363:Gm8247 UTSW 14 44,823,919 (GRCm39) missense
Posted On 2013-12-09