Incidental Mutation 'IGL01514:Pard6g'
ID89317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pard6g
Ensembl Gene ENSMUSG00000056214
Gene Namepar-6 family cell polarity regulator gamma
Synonyms2410049N21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.200) question?
Stock #IGL01514
Quality Score
Status
Chromosome18
Chromosomal Location80046895-80119640 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 80117446 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 258 (R258H)
Ref Sequence ENSEMBL: ENSMUSP00000069182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070219]
Predicted Effect probably damaging
Transcript: ENSMUST00000070219
AA Change: R258H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069182
Gene: ENSMUSG00000056214
AA Change: R258H

DomainStartEndE-ValueType
PB1 18 98 1.16e-16 SMART
PDZ 168 251 8.6e-14 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs A G 2: 93,839,242 probably benign Het
Actl7b T C 4: 56,740,677 Y227C probably damaging Het
Adam26a A T 8: 43,568,448 H668Q probably benign Het
Alcam A T 16: 52,274,290 probably benign Het
Aldh3a2 C T 11: 61,253,798 probably benign Het
Atp11b G T 3: 35,836,981 G801V probably damaging Het
C3 G A 17: 57,215,866 T1006I probably benign Het
Cacna2d4 T C 6: 119,282,173 probably benign Het
Cldn34b3 A T X: 76,267,074 I83F probably damaging Het
Clec2g G A 6: 128,948,773 M48I probably benign Het
Coch A G 12: 51,603,353 D375G probably damaging Het
Erbb2 C T 11: 98,432,919 T653I possibly damaging Het
Etv3 A G 3: 87,535,718 H203R possibly damaging Het
Fat4 A G 3: 38,949,534 R1801G possibly damaging Het
Gars T A 6: 55,065,520 S413T probably benign Het
Gnat1 G A 9: 107,676,301 R253C possibly damaging Het
Hook3 A T 8: 26,088,189 L91I possibly damaging Het
Lrp8 T C 4: 107,855,684 Y377H probably damaging Het
Lztr1 G A 16: 17,522,391 probably null Het
Malt1 A G 18: 65,476,400 D825G possibly damaging Het
Nlrp9b T C 7: 20,045,934 probably null Het
Olfr1396 A T 11: 49,113,576 I50N probably damaging Het
Olfr54 C T 11: 51,027,589 R196* probably null Het
Orc1 A G 4: 108,602,052 R473G probably damaging Het
Pkdrej T C 15: 85,818,063 D1224G possibly damaging Het
Polr1e A G 4: 45,018,723 T18A probably benign Het
Pycrl T C 15: 75,917,004 T240A probably damaging Het
Ralgapa1 C A 12: 55,719,657 G1284V probably damaging Het
Rcl1 T C 19: 29,143,298 probably benign Het
Sec24c C T 14: 20,682,771 T134I possibly damaging Het
Sis A G 3: 72,935,920 probably benign Het
Susd5 A C 9: 114,068,879 probably benign Het
Tlk1 T C 2: 70,752,266 N173S probably benign Het
Uroc1 T C 6: 90,363,100 probably benign Het
Other mutations in Pard6g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Pard6g APN 18 80079822 splice site probably benign
IGL01519:Pard6g APN 18 80079856 missense probably benign 0.34
IGL02305:Pard6g APN 18 80117770 missense probably damaging 1.00
IGL03115:Pard6g APN 18 80079853 missense probably damaging 1.00
R0411:Pard6g UTSW 18 80117122 missense probably damaging 1.00
R0604:Pard6g UTSW 18 80117208 missense probably damaging 1.00
R0938:Pard6g UTSW 18 80080044 nonsense probably null
R1730:Pard6g UTSW 18 80079825 missense probably damaging 0.97
R1783:Pard6g UTSW 18 80079825 missense probably damaging 0.97
R1785:Pard6g UTSW 18 80117308 missense probably damaging 0.96
R1786:Pard6g UTSW 18 80117308 missense probably damaging 0.96
R1851:Pard6g UTSW 18 80117142 missense probably damaging 1.00
R2070:Pard6g UTSW 18 80117725 missense probably benign 0.00
R2132:Pard6g UTSW 18 80117308 missense probably damaging 0.96
R2133:Pard6g UTSW 18 80117308 missense probably damaging 0.96
R3778:Pard6g UTSW 18 80079823 critical splice acceptor site probably null
R5282:Pard6g UTSW 18 80079901 missense probably benign 0.01
R6084:Pard6g UTSW 18 80117205 missense possibly damaging 0.73
R6913:Pard6g UTSW 18 80117319 missense possibly damaging 0.94
R7124:Pard6g UTSW 18 80117125 missense possibly damaging 0.70
Posted On2013-12-03