Incidental Mutation 'IGL01118:Gm21319'
ID52472
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm21319
Ensembl Gene ENSMUSG00000095724
Gene Namepredicted gene, 21319
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.131) question?
Stock #IGL01118
Quality Score
Status
Chromosome12
Chromosomal Location87772425-87775755 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 87773442 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 116 (N116Y)
Ref Sequence ENSEMBL: ENSMUSP00000126351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164517]
Predicted Effect probably damaging
Transcript: ENSMUST00000164517
AA Change: N116Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126351
Gene: ENSMUSG00000095724
AA Change: N116Y

DomainStartEndE-ValueType
low complexity region 3 19 N/A INTRINSIC
eIF1a 28 110 6.17e-44 SMART
low complexity region 125 144 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222683
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C T 3: 124,401,409 R539Q probably benign Het
Abcb1a G A 5: 8,674,687 R40H probably damaging Het
Acan T A 7: 79,098,653 S1057R possibly damaging Het
Ahnak A T 19: 9,012,578 D3742V probably damaging Het
Amdhd1 A T 10: 93,531,568 D241E probably benign Het
Cntn5 T C 9: 9,831,560 Y605C possibly damaging Het
Dgcr14 A T 16: 17,902,932 I350N probably damaging Het
Dnmt3l T C 10: 78,057,286 F299S probably damaging Het
G6pd2 A T 5: 61,810,063 M394L probably benign Het
Gm9839 A T 1: 32,519,843 M386K probably benign Het
Gtf2h3 T C 5: 124,595,668 V268A probably damaging Het
Hgs T C 11: 120,475,214 V195A probably damaging Het
Igkv3-2 A T 6: 70,698,994 S96C probably damaging Het
Mgl2 A G 11: 70,134,189 E12G probably benign Het
Mup11 A T 4: 60,659,780 F153I probably damaging Het
Nf1 T A 11: 79,546,986 C2057S probably damaging Het
Nkrf A G X: 36,888,757 F624S probably damaging Het
Noto T C 6: 85,424,210 S74P probably benign Het
Olfr1090 A G 2: 86,753,970 I256T probably benign Het
Pax8 T C 2: 24,442,932 probably benign Het
Psg28 A T 7: 18,428,092 V162D probably damaging Het
Rai1 T C 11: 60,187,438 F776S probably damaging Het
Taar8a A T 10: 24,076,861 H121L probably damaging Het
Tas2r113 A G 6: 132,893,315 N102S probably benign Het
Trpm1 A G 7: 64,235,824 T863A probably benign Het
Ttf2 A G 3: 100,967,097 probably benign Het
Wdr62 T C 7: 30,242,781 H611R probably damaging Het
Wdr90 A T 17: 25,854,687 L762Q probably damaging Het
Yeats2 T G 16: 20,186,304 S364A probably damaging Het
Zdhhc15 G T X: 104,598,106 Q82K probably benign Het
Other mutations in Gm21319
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0089:Gm21319 UTSW 12 87773513 missense probably damaging 1.00
R0559:Gm21319 UTSW 12 87773453 missense probably benign
R1185:Gm21319 UTSW 12 87773708 missense probably benign 0.14
R3800:Gm21319 UTSW 12 87773721 missense possibly damaging 0.95
R4531:Gm21319 UTSW 12 87773544 nonsense probably null
R5013:Gm21319 UTSW 12 87773742 nonsense probably null
R5817:Gm21319 UTSW 12 87773431 missense probably benign 0.01
R7137:Gm21319 UTSW 12 87773546 missense possibly damaging 0.90
R7187:Gm21319 UTSW 12 87773938 start gained probably benign
R7403:Gm21319 UTSW 12 87773544 missense probably benign 0.10
R7505:Gm21319 UTSW 12 87773500 missense probably benign 0.20
Posted On2013-06-21