Incidental Mutation 'IGL01519:Pard6g'
ID89414
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: 0.131) question?
Stock #IGL01519
Quality Score
Status
Chromosome18
Chromosomal Location80046895-80119640 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 80079856 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 35 (D35G)
Ref Sequence ENSEMBL: ENSMUSP00000069182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070219]
Predicted Effect probably benign
Transcript: ENSMUST00000070219
AA Change: D35G

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000069182
Gene: ENSMUSG00000056214
AA Change: D35G

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap17b T C X: 36,611,850 D668G probably damaging Het
Btbd3 A G 2: 138,279,777 M127V probably benign Het
Btbd9 T C 17: 30,299,601 T462A possibly damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Chd1 G A 17: 17,378,569 G98R probably damaging Het
Ckap2 G A 8: 22,168,898 R610C probably benign Het
Col18a1 C T 10: 77,059,323 R1168H probably damaging Het
Csmd3 G A 15: 47,596,850 T3515I probably benign Het
Dcn A G 10: 97,483,523 Q54R probably damaging Het
Dock11 A G X: 35,963,353 I86V probably benign Het
Dram2 T A 3: 106,571,629 I179N possibly damaging Het
Fbn1 C T 2: 125,317,019 M2275I probably benign Het
Gga2 A G 7: 122,002,188 S231P probably damaging Het
Gk2 T A 5: 97,455,787 L397F probably damaging Het
Gm10436 T C 12: 88,177,561 R161G probably benign Het
Gm8122 T A 14: 43,235,239 I22L unknown Het
Golga4 A G 9: 118,527,092 E104G probably damaging Het
Herc2 G A 7: 56,103,950 R699H probably damaging Het
Hrh1 A C 6: 114,480,301 E181A probably damaging Het
Lsm8 T C 6: 18,851,700 F50S probably damaging Het
Olfr161 T A 16: 3,592,534 I46N probably damaging Het
Plod2 G A 9: 92,595,295 V347I probably benign Het
Snx13 T C 12: 35,138,472 probably benign Het
Taf1 T A X: 101,562,806 probably benign Het
Tarsl2 A G 7: 65,663,886 Y351C probably damaging Het
Tenm4 C A 7: 96,895,177 D2133E probably damaging Het
Thap7 A C 16: 17,528,745 probably benign Het
Tpr T A 1: 150,431,168 S1505T probably benign Het
Trav9-2 C T 14: 53,591,352 R60W probably damaging Het
Ttn A G 2: 76,878,348 probably benign Het
Other mutations in Pard6g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Pard6g APN 18 80079822 splice site probably benign
IGL01514:Pard6g APN 18 80117446 missense probably damaging 1.00
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