Incidental Mutation 'IGL02243:Gm3476'
ID286047
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm3476
Ensembl Gene ENSMUSG00000079371
Gene Namepredicted gene 3476
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02243
Quality Score
Status
Chromosome14
Chromosomal Location6105321-6125807 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 6122811 bp
ZygosityHeterozygous
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]
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: 80,302,341 Y87C probably damaging Het
Armc3 G A 2: 19,286,137 probably null Het
Brsk2 T C 7: 141,993,299 F493S probably damaging Het
Cd19 T C 7: 126,410,793 probably null Het
Chd2 T C 7: 73,497,708 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ddx19a T G 8: 110,976,456 I450L probably benign Het
Edn2 G A 4: 120,162,032 probably null Het
Elp2 G A 18: 24,622,606 R470Q probably benign Het
Fhdc1 T G 3: 84,474,640 M1L possibly damaging Het
Gba2 A T 4: 43,568,719 I619N probably benign Het
Glce A G 9: 62,070,140 F154S probably damaging Het
Hsp90aa1 A G 12: 110,695,091 S164P probably damaging Het
Iqcg T C 16: 33,045,592 D127G probably damaging Het
Jag2 G A 12: 112,916,345 T381I possibly damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Lhx2 T A 2: 38,353,519 probably benign Het
Lrrc2 A T 9: 110,970,057 N158I probably damaging Het
M1ap C T 6: 83,026,288 P389S probably damaging Het
Maats1 T C 16: 38,341,780 probably benign Het
Masp2 A T 4: 148,603,068 D104V probably benign Het
Met G A 6: 17,549,094 V982I probably damaging Het
Msh2 T A 17: 87,678,368 probably benign Het
Myh9 A G 15: 77,767,482 L1509P probably damaging Het
Mylk2 A G 2: 152,920,553 H554R probably damaging Het
Oxr1 T G 15: 41,535,701 probably benign Het
Pdp1 A T 4: 11,961,873 V146D probably benign Het
Pdzrn4 A T 15: 92,770,696 M910L probably benign Het
Prl2a1 T C 13: 27,807,417 probably benign Het
Rapgef6 C T 11: 54,676,400 P1136S probably damaging Het
Rasgef1c A T 11: 49,957,390 S69C possibly damaging Het
Rnaseh1 C T 12: 28,655,632 R152W probably damaging Het
Sele T C 1: 164,052,968 V373A probably benign Het
Tmem67 G A 4: 12,070,584 S314L possibly damaging Het
Traf4 T C 11: 78,160,517 E271G probably benign Het
Trim39 T C 17: 36,260,384 D494G probably damaging Het
Virma G A 4: 11,546,031 R1673Q probably damaging Het
Other mutations in Gm3476
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4418001:Gm3476 UTSW 14 6118411 missense probably benign 0.09
R1248:Gm3476 UTSW 14 6118512 missense probably benign 0.02
R1917:Gm3476 UTSW 14 6118358 missense possibly damaging 0.92
Posted On2015-04-16