Incidental Mutation 'IGL00786:4930402F06Rik'
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ID13252
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930402F06Rik
Ensembl Gene ENSMUSG00000079421
Gene NameRIKEN cDNA 4930402F06 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00786
Quality Score
Status
Chromosome2
Chromosomal Location35375562-35397175 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 35375839 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 242 (N242S)
Ref Sequence ENSEMBL: ENSMUSP00000108632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113009] [ENSMUST00000113010]
Predicted Effect probably benign
Transcript: ENSMUST00000113009
AA Change: N242S

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000108632
Gene: ENSMUSG00000079421
AA Change: N242S

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 4 299 4.7e-130 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113010
AA Change: N273S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000108633
Gene: ENSMUSG00000079421
AA Change: N273S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Glyco_transf_6 37 330 1.2e-124 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 C A 5: 4,070,522 A3646E probably damaging Het
Akt1 C A 12: 112,657,671 G233V probably damaging Het
B3gat3 A G 19: 8,926,785 E320G probably benign Het
Bpifa5 G A 2: 154,167,252 C238Y probably damaging Het
Camkmt T C 17: 85,096,491 V47A probably damaging Het
Ccnl2 C T 4: 155,820,880 R284W probably damaging Het
Chl1 G T 6: 103,675,145 V341F probably damaging Het
Cst3 A T 2: 148,872,877 C93* probably null Het
Ctsh T C 9: 90,064,238 V119A probably damaging Het
Dmap1 C T 4: 117,676,396 R225Q possibly damaging Het
Ehbp1 A G 11: 22,100,460 S479P possibly damaging Het
Eml2 A G 7: 19,202,582 Y528C probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
G6pc3 A G 11: 102,193,105 M186V probably benign Het
Gpr37 A G 6: 25,669,318 V509A possibly damaging Het
Heatr5b G T 17: 78,824,634 H347N possibly damaging Het
Idh1 A G 1: 65,166,243 S188P probably damaging Het
Mphosph8 T C 14: 56,672,544 V118A probably benign Het
Mthfsd C T 8: 121,104,468 R91Q probably damaging Het
Otor G A 2: 143,079,926 V86I probably damaging Het
Pdk2 T A 11: 95,031,935 T140S probably benign Het
Pnliprp2 A G 19: 58,760,497 N78S probably benign Het
Rimbp3 C T 16: 17,211,688 T992M probably damaging Het
Sdad1 A T 5: 92,303,773 probably null Het
Sidt2 A G 9: 45,949,803 S71P possibly damaging Het
Slc44a2 T A 9: 21,345,935 V390E probably damaging Het
Tmem168 T C 6: 13,602,675 I231V probably benign Het
Uhrf1bp1 T A 17: 27,879,292 I136N probably damaging Het
Vim T C 2: 13,578,510 probably null Het
Other mutations in 4930402F06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00805:4930402F06Rik APN 2 35380410 missense probably damaging 1.00
IGL01647:4930402F06Rik APN 2 35376085 missense probably damaging 1.00
IGL01927:4930402F06Rik APN 2 35376014 missense probably damaging 1.00
IGL02315:4930402F06Rik APN 2 35376173 missense probably damaging 1.00
IGL02563:4930402F06Rik APN 2 35380398 missense probably damaging 1.00
IGL02655:4930402F06Rik APN 2 35380486 missense possibly damaging 0.70
IGL03341:4930402F06Rik APN 2 35375894 missense possibly damaging 0.76
R0102:4930402F06Rik UTSW 2 35375783 nonsense probably null
R0102:4930402F06Rik UTSW 2 35375783 nonsense probably null
R0309:4930402F06Rik UTSW 2 35376259 missense possibly damaging 0.90
R0556:4930402F06Rik UTSW 2 35390470 splice site probably benign
R2089:4930402F06Rik UTSW 2 35376067 missense probably benign 0.00
R2091:4930402F06Rik UTSW 2 35376067 missense probably benign 0.00
R2091:4930402F06Rik UTSW 2 35376067 missense probably benign 0.00
R2158:4930402F06Rik UTSW 2 35385668 missense possibly damaging 0.94
R4027:4930402F06Rik UTSW 2 35380396 missense probably damaging 1.00
R4897:4930402F06Rik UTSW 2 35376297 missense probably damaging 1.00
R7755:4930402F06Rik UTSW 2 35376337 missense probably damaging 1.00
R8129:4930402F06Rik UTSW 2 35376175 missense probably damaging 1.00
R8143:4930402F06Rik UTSW 2 35375872 missense probably damaging 1.00
R8309:4930402F06Rik UTSW 2 35389587 missense possibly damaging 0.67
X0024:4930402F06Rik UTSW 2 35389605 missense possibly damaging 0.93
Posted On2012-12-06