Incidental Mutation 'IGL02243:Gm3476'
ID 286047
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm3476
Ensembl Gene ENSMUSG00000079371
Gene Name predicted gene 3476
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL02243
Quality Score
Status
Chromosome 14
Chromosomal Location 16343968-16352342 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 6122811 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 195 (C195*)
Ref Sequence ENSEMBL: ENSMUSP00000141154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112742] [ENSMUST00000167913] [ENSMUST00000190582]
AlphaFold K7N6V0
Predicted Effect probably null
Transcript: ENSMUST00000112742
AA Change: C195*
SMART Domains Protein: ENSMUSP00000108362
Gene: ENSMUSG00000079371
AA Change: C195*

DomainStartEndE-ValueType
Pfam:Takusan 46 129 6e-33 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000167913
AA Change: C195*
SMART Domains Protein: ENSMUSP00000126875
Gene: ENSMUSG00000079371
AA Change: C195*

DomainStartEndE-ValueType
Pfam:Takusan 48 128 2.4e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000190582
AA Change: C195*
SMART Domains Protein: ENSMUSP00000141154
Gene: ENSMUSG00000079371
AA Change: C195*

DomainStartEndE-ValueType
Pfam:Takusan 46 129 9.5e-32 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc2 A G 10: 80,138,175 (GRCm39) Y87C probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Brsk2 T C 7: 141,547,036 (GRCm39) F493S probably damaging Het
Cd19 T C 7: 126,009,965 (GRCm39) probably null Het
Cfap91 T C 16: 38,162,142 (GRCm39) probably benign Het
Chd2 T C 7: 73,147,456 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ddx19a T G 8: 111,703,088 (GRCm39) I450L probably benign Het
Edn2 G A 4: 120,019,229 (GRCm39) probably null Het
Elp2 G A 18: 24,755,663 (GRCm39) R470Q probably benign Het
Fhdc1 T G 3: 84,381,947 (GRCm39) M1L possibly damaging Het
Gba2 A T 4: 43,568,719 (GRCm39) I619N probably benign Het
Glce A G 9: 61,977,422 (GRCm39) F154S probably damaging Het
Hsp90aa1 A G 12: 110,661,525 (GRCm39) S164P probably damaging Het
Iqcg T C 16: 32,865,962 (GRCm39) D127G probably damaging Het
Jag2 G A 12: 112,879,965 (GRCm39) T381I possibly damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lhx2 T A 2: 38,243,531 (GRCm39) probably benign Het
Lrrc2 A T 9: 110,799,125 (GRCm39) N158I probably damaging Het
M1ap C T 6: 83,003,269 (GRCm39) P389S probably damaging Het
Masp2 A T 4: 148,687,525 (GRCm39) D104V probably benign Het
Met G A 6: 17,549,093 (GRCm39) V982I probably damaging Het
Msh2 T A 17: 87,985,796 (GRCm39) probably benign Het
Myh9 A G 15: 77,651,682 (GRCm39) L1509P probably damaging Het
Mylk2 A G 2: 152,762,473 (GRCm39) H554R probably damaging Het
Oxr1 T G 15: 41,399,097 (GRCm39) probably benign Het
Pdp1 A T 4: 11,961,873 (GRCm39) V146D probably benign Het
Pdzrn4 A T 15: 92,668,577 (GRCm39) M910L probably benign Het
Prl2a1 T C 13: 27,991,400 (GRCm39) probably benign Het
Rapgef6 C T 11: 54,567,226 (GRCm39) P1136S probably damaging Het
Rasgef1c A T 11: 49,848,217 (GRCm39) S69C possibly damaging Het
Rnaseh1 C T 12: 28,705,631 (GRCm39) R152W probably damaging Het
Sele T C 1: 163,880,537 (GRCm39) V373A probably benign Het
Tmem67 G A 4: 12,070,584 (GRCm39) S314L possibly damaging Het
Traf4 T C 11: 78,051,343 (GRCm39) E271G probably benign Het
Trim39 T C 17: 36,571,276 (GRCm39) D494G probably damaging Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Other mutations in Gm3476
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4418001:Gm3476 UTSW 14 6,118,411 (GRCm38) missense probably benign 0.09
R1248:Gm3476 UTSW 14 6,118,512 (GRCm38) missense probably benign 0.02
R1917:Gm3476 UTSW 14 6,118,358 (GRCm38) missense possibly damaging 0.92
Posted On 2015-04-16