Incidental Mutation 'IGL02839:Gm813'
ID361779
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm813
Ensembl Gene ENSMUSG00000075002
Gene Namepredicted gene 813
SynonymsLOC385656, LOC328695
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL02839
Quality Score
Status
Chromosome16
Chromosomal Location58613675-58616978 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58615847 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 38 (Y38H)
Ref Sequence ENSEMBL: ENSMUSP00000097255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099663]
Predicted Effect probably damaging
Transcript: ENSMUST00000099663
AA Change: Y38H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097255
Gene: ENSMUSG00000075002
AA Change: Y38H

DomainStartEndE-ValueType
Pfam:Ferritin 14 152 7.4e-16 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,760,023 probably null Het
Aldh1l1 T C 6: 90,569,875 F387L possibly damaging Het
Aldh5a1 A G 13: 24,911,620 S505P probably damaging Het
Aox1 A G 1: 58,068,784 T642A probably benign Het
Atg16l2 T C 7: 101,293,397 I364V probably damaging Het
Atp2c2 T C 8: 119,749,120 V584A possibly damaging Het
Axl A T 7: 25,766,791 probably null Het
Camta1 T C 4: 151,144,512 Q621R probably damaging Het
Cdca4 A T 12: 112,821,891 D72E probably damaging Het
Col1a2 T A 6: 4,538,748 Y1223N unknown Het
Drc1 T C 5: 30,350,423 M263T probably benign Het
Eef1akmt1 A T 14: 57,549,781 Y213N probably damaging Het
Fat3 C A 9: 15,919,170 D4343Y probably damaging Het
Gucy2d T C 7: 98,443,989 V191A possibly damaging Het
Hdac5 A G 11: 102,204,908 L355P probably damaging Het
Hdgfl3 C T 7: 81,900,412 G58D probably damaging Het
Hnrnpul1 A G 7: 25,733,242 probably null Het
Klf12 A T 14: 99,900,239 C290* probably null Het
Mtmr3 A T 11: 4,487,994 I820N probably benign Het
Myo7a A T 7: 98,091,122 L555Q probably damaging Het
Nrsn1 A G 13: 25,253,544 C134R probably damaging Het
Olfr1094 T A 2: 86,829,368 N205K probably benign Het
Olfr1205 G A 2: 88,831,648 C177Y probably damaging Het
Olfr159 T A 4: 43,770,943 K23* probably null Het
Olfr206 A T 16: 59,345,390 C104S probably benign Het
Olfr59 T A 11: 74,289,370 C241* probably null Het
Olfr681 A C 7: 105,122,356 T300P probably damaging Het
Pik3r6 A G 11: 68,526,412 E60G probably damaging Het
Pkhd1l1 T A 15: 44,529,543 I1758N probably damaging Het
Poc1b A G 10: 99,144,598 probably benign Het
Rnf103 G T 6: 71,509,705 R440L probably benign Het
Siglec1 A G 2: 131,084,932 V237A possibly damaging Het
Skiv2l T C 17: 34,847,798 T165A probably benign Het
Slit3 A G 11: 35,649,047 N762S possibly damaging Het
Trank1 A G 9: 111,364,756 N616S probably damaging Het
Trav14d-3-dv8 C A 14: 53,078,790 Q36K possibly damaging Het
Ttll6 T C 11: 96,158,820 V788A probably damaging Het
Ube4b A T 4: 149,368,399 S357T probably damaging Het
Unc80 A G 1: 66,671,675 H2701R possibly damaging Het
Wdfy3 A G 5: 101,968,920 S85P probably damaging Het
Other mutations in Gm813
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02701:Gm813 APN 16 58615807 missense probably benign 0.00
IGL03275:Gm813 APN 16 58615756 missense probably damaging 1.00
R0946:Gm813 UTSW 16 58614712 missense probably damaging 1.00
R1323:Gm813 UTSW 16 58616915 missense possibly damaging 0.65
R1323:Gm813 UTSW 16 58616915 missense possibly damaging 0.65
R1548:Gm813 UTSW 16 58615839 missense probably benign 0.06
R2382:Gm813 UTSW 16 58615876 intron probably null
R2871:Gm813 UTSW 16 58613979 missense probably benign 0.39
R2871:Gm813 UTSW 16 58613979 missense probably benign 0.39
R2873:Gm813 UTSW 16 58613979 missense probably benign 0.39
R2874:Gm813 UTSW 16 58613979 missense probably benign 0.39
R4690:Gm813 UTSW 16 58613970 missense probably benign 0.00
R5097:Gm813 UTSW 16 58613864 missense probably benign 0.15
R5822:Gm813 UTSW 16 58615712 critical splice donor site probably null
R6234:Gm813 UTSW 16 58614671 missense probably benign 0.01
R6382:Gm813 UTSW 16 58613910 missense possibly damaging 0.73
R7170:Gm813 UTSW 16 58615728 nonsense probably null
R8119:Gm813 UTSW 16 58616848 missense probably benign 0.00
RF016:Gm813 UTSW 16 58616867 missense probably damaging 1.00
X0026:Gm813 UTSW 16 58613959 missense probably benign 0.08
Posted On2015-12-18