Incidental Mutation 'IGL01118:Gm9839'
ID50302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm9839
Ensembl Gene ENSMUSG00000102865
Gene Namepredicted gene 9839
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.314) question?
Stock #IGL01118
Quality Score
Status
Chromosome1
Chromosomal Location32519563-32520999 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 32519843 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 386 (M386K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027226]
Predicted Effect probably benign
Transcript: ENSMUST00000027226
SMART Domains Protein: ENSMUSP00000027226
Gene: ENSMUSG00000026058

DomainStartEndE-ValueType
low complexity region 41 48 N/A INTRINSIC
KH 58 156 4.93e-7 SMART
low complexity region 185 197 N/A INTRINSIC
low complexity region 204 231 N/A INTRINSIC
Pfam:Sam68-YY 267 321 1.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050429
AA Change: M386K

PolyPhen 2 Score 0.150 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085635
Gene: ENSMUSG00000049830
AA Change: M386K

DomainStartEndE-ValueType
low complexity region 137 150 N/A INTRINSIC
Pfam:Peptidase_C48 298 477 1.1e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195252
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
Gm21319 T A 12: 87,773,442 N116Y probably damaging 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 Gm9839
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Gm9839 APN 1 32520836 missense possibly damaging 0.85
IGL01467:Gm9839 APN 1 32519951 missense probably damaging 1.00
IGL02422:Gm9839 APN 1 32519862 intron probably benign
IGL02450:Gm9839 APN 1 32520883 intron probably benign
R1467:Gm9839 UTSW 1 32520513 nonsense probably null
Posted On2013-06-21