Incidental Mutation 'IGL02998:Gm8220'
ID 407218
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm8220
Ensembl Gene ENSMUSG00000091725
Gene Name predicted gene 8220
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # IGL02998
Quality Score
Status
Chromosome 14
Chromosomal Location 44523037-44528525 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 44525765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169601] [ENSMUST00000177877]
AlphaFold L7N2B0
Predicted Effect probably null
Transcript: ENSMUST00000164663
SMART Domains Protein: ENSMUSP00000131482
Gene: ENSMUSG00000091725

DomainStartEndE-ValueType
Pfam:Takusan 57 137 3e-27 PFAM
coiled coil region 164 186 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000169601
SMART Domains Protein: ENSMUSP00000129002
Gene: ENSMUSG00000091725

DomainStartEndE-ValueType
Pfam:Takusan 50 130 2.6e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000177877
SMART Domains Protein: ENSMUSP00000136414
Gene: ENSMUSG00000091725

DomainStartEndE-ValueType
Pfam:Takusan 7 46 4.4e-8 PFAM
coiled coil region 73 95 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228838
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C T 4: 129,912,862 (GRCm39) A1329V probably benign Het
Bhlha9 G A 11: 76,563,570 (GRCm39) A66T probably damaging Het
Dock10 G A 1: 80,551,259 (GRCm39) R681W probably damaging Het
Dst T C 1: 34,307,356 (GRCm39) L1433P probably damaging Het
Ercc6 A G 14: 32,279,814 (GRCm39) I610V probably benign Het
Fras1 T C 5: 96,850,040 (GRCm39) F1859S possibly damaging Het
Gad1 A G 2: 70,420,163 (GRCm39) Y349C probably damaging Het
Galnt1 T A 18: 24,397,469 (GRCm39) I190N probably damaging Het
Gm28042 G A 2: 119,870,635 (GRCm39) V768I possibly damaging Het
Higd1a A G 9: 121,678,690 (GRCm39) probably benign Het
Itga4 T A 2: 79,108,165 (GRCm39) Y206N possibly damaging Het
Itpk1 A G 12: 102,545,398 (GRCm39) V235A probably damaging Het
Itpka A G 2: 119,581,242 (GRCm39) Q425R possibly damaging Het
Kpna6 T A 4: 129,549,297 (GRCm39) I162F probably benign Het
Msantd1 A G 5: 35,078,768 (GRCm39) D101G probably damaging Het
Ntrk3 T C 7: 78,227,405 (GRCm39) I43V probably damaging Het
Pias3 G A 3: 96,609,495 (GRCm39) E271K probably damaging Het
Pparg A G 6: 115,440,049 (GRCm39) I178V probably benign Het
Rxfp3 A T 15: 11,037,054 (GRCm39) M106K probably damaging Het
Scn3b G A 9: 40,199,713 (GRCm39) V210M possibly damaging Het
Shisa3 A G 5: 67,765,848 (GRCm39) D33G possibly damaging Het
Suz12 T A 11: 79,920,149 (GRCm39) W570R probably damaging Het
Vmn2r107 A T 17: 20,578,017 (GRCm39) K442M probably damaging Het
Other mutations in Gm8220
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01641:Gm8220 APN 14 44,525,628 (GRCm39) missense probably benign 0.34
IGL03251:Gm8220 APN 14 44,525,729 (GRCm39) missense possibly damaging 0.71
R0845:Gm8220 UTSW 14 44,524,248 (GRCm39) missense probably damaging 1.00
R4066:Gm8220 UTSW 14 44,523,095 (GRCm39) nonsense probably null
R4743:Gm8220 UTSW 14 44,523,152 (GRCm39) unclassified probably benign
R5349:Gm8220 UTSW 14 44,525,634 (GRCm39) missense probably benign 0.07
R6394:Gm8220 UTSW 14 44,523,134 (GRCm39) unclassified probably benign
R6932:Gm8220 UTSW 14 44,525,645 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02