Incidental Mutation 'IGL02701:Gm813'
ID304124
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: 0.083) question?
Stock #IGL02701
Quality Score
Status
Chromosome16
Chromosomal Location58613675-58616978 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 58615807 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 51 (S51L)
Ref Sequence ENSEMBL: ENSMUSP00000097255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099663]
Predicted Effect probably benign
Transcript: ENSMUST00000099663
AA Change: S51L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000097255
Gene: ENSMUSG00000075002
AA Change: S51L

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik A G 5: 5,466,623 probably null Het
4833423E24Rik A G 2: 85,484,169 L480P probably damaging Het
Arhgap21 A G 2: 20,892,091 C125R probably damaging Het
Blmh A G 11: 76,971,910 D383G probably benign Het
Brca1 T C 11: 101,525,235 E691G probably damaging Het
Chrm3 G A 13: 9,878,464 R179* probably null Het
Cnrip1 A G 11: 17,078,415 T116A probably benign Het
Csmd2 T C 4: 128,496,141 V2223A probably benign Het
Dalrd3 T A 9: 108,572,284 V143D possibly damaging Het
Ddx60 A T 8: 61,979,341 I886L probably damaging Het
Dennd4a T C 9: 64,897,353 F1325L possibly damaging Het
Dnmt3l A T 10: 78,055,022 T253S probably benign Het
Gde1 T A 7: 118,698,637 T9S probably damaging Het
Ggcx T A 6: 72,418,472 probably benign Het
Hspg2 C T 4: 137,557,174 A3481V probably damaging Het
Igf1r T C 7: 68,201,249 Y931H possibly damaging Het
Ighv12-3 A C 12: 114,366,801 S25A probably damaging Het
Itga5 A C 15: 103,347,766 C920G probably damaging Het
Kmt5b A G 19: 3,796,681 D118G probably benign Het
Lrp1b T G 2: 41,246,017 N1647T possibly damaging Het
Lrrc71 T C 3: 87,741,772 E363G probably benign Het
Mapk1 A G 16: 17,015,906 Y41C probably benign Het
Mib1 T C 18: 10,747,357 V178A probably damaging Het
Olfr1022 A G 2: 85,869,458 I289V probably benign Het
Olfr159 A G 4: 43,770,366 I215T probably benign Het
Olfr472 A T 7: 107,903,442 T242S probably benign Het
Plb1 T C 5: 32,364,197 V1464A unknown Het
Plekhg5 T C 4: 152,103,022 S82P probably damaging Het
Plxna4 T C 6: 32,517,559 T41A probably benign Het
Ppip5k1 A C 2: 121,316,649 probably null Het
Rpl14 T C 9: 120,573,573 probably benign Het
Slc44a2 T C 9: 21,347,951 F554L probably benign Het
Slco1b2 T A 6: 141,685,545 V635E probably benign Het
Sv2a T A 3: 96,187,131 C261S probably damaging Het
Thbs2 T C 17: 14,683,361 I353V probably benign Het
Tspan4 G A 7: 141,492,028 V205M probably damaging Het
Vezf1 A T 11: 88,076,221 R93* probably null Het
Wwox T A 8: 114,706,368 V258D probably damaging Het
Zmynd12 G T 4: 119,444,755 probably benign Het
Other mutations in Gm813
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02839:Gm813 APN 16 58615847 missense probably damaging 1.00
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 On2015-04-16