Incidental Mutation 'IGL02007:Gpatch11'
ID182249
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpatch11
Ensembl Gene ENSMUSG00000050668
Gene NameG patch domain containing 11
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL02007
Quality Score
Status
Chromosome17
Chromosomal Location78835516-78848299 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78842164 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 198 (T198A)
Ref Sequence ENSEMBL: ENSMUSP00000126814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170759]
Predicted Effect probably benign
Transcript: ENSMUST00000170759
AA Change: T198A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126814
Gene: ENSMUSG00000050668
AA Change: T198A

DomainStartEndE-ValueType
G_patch 71 117 5.8e-14 SMART
DUF4187 195 263 1.51e-25 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 C A 14: 68,633,219 R335L possibly damaging Het
Adgrv1 T C 13: 81,568,743 probably benign Het
Calcrl A G 2: 84,375,324 C8R probably benign Het
Cntn4 T A 6: 106,655,529 S505T probably benign Het
Cyp3a16 T C 5: 145,441,948 probably benign Het
Fam160a1 G T 3: 85,722,445 P280T probably damaging Het
Gm11127 G T 17: 36,056,330 N333K possibly damaging Het
Heatr5a C A 12: 51,916,158 L986F probably damaging Het
Ift172 A G 5: 31,286,604 I90T probably benign Het
Igkv3-9 A G 6: 70,588,461 probably benign Het
Iqsec1 G A 6: 90,690,349 P369S probably benign Het
Myh1 C A 11: 67,220,556 T1607K probably benign Het
Myo18b T C 5: 112,874,972 probably benign Het
Nobox A G 6: 43,307,538 L58P probably damaging Het
Nwd2 T A 5: 63,804,699 I542N possibly damaging Het
Olfr1301 A G 2: 111,754,479 T77A probably damaging Het
Olfr474 A G 7: 107,954,746 Y35C probably damaging Het
Osm C T 11: 4,239,470 R85W probably damaging Het
Pcdh20 T C 14: 88,469,595 R90G probably benign Het
Pkhd1l1 T C 15: 44,533,733 probably benign Het
Sec14l2 A G 11: 4,111,114 S116P probably benign Het
Selenbp2 A C 3: 94,698,154 N96H possibly damaging Het
Smarcal1 T C 1: 72,595,940 S393P probably damaging Het
Tbc1d1 A G 5: 64,256,992 Q103R probably damaging Het
Tmem63c T C 12: 87,072,873 Y314H probably damaging Het
Wdr34 A G 2: 30,038,390 S75P probably benign Het
Zfp663 A C 2: 165,359,073 S14A probably benign Het
Zmynd10 A G 9: 107,550,532 N345S probably damaging Het
Other mutations in Gpatch11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02125:Gpatch11 APN 17 78840109 missense probably benign 0.21
IGL02183:Gpatch11 APN 17 78842231 critical splice donor site probably null
IGL02223:Gpatch11 APN 17 78845179 missense probably benign 0.23
IGL02224:Gpatch11 APN 17 78841093 splice site probably benign
IGL03116:Gpatch11 APN 17 78843853 nonsense probably null
FR4340:Gpatch11 UTSW 17 78842174 small insertion probably benign
FR4342:Gpatch11 UTSW 17 78842178 small insertion probably benign
FR4449:Gpatch11 UTSW 17 78842168 small insertion probably benign
FR4449:Gpatch11 UTSW 17 78842176 small insertion probably benign
FR4449:Gpatch11 UTSW 17 78842181 small insertion probably benign
FR4548:Gpatch11 UTSW 17 78842175 small insertion probably benign
FR4737:Gpatch11 UTSW 17 78842171 small insertion probably benign
FR4737:Gpatch11 UTSW 17 78842180 small insertion probably benign
FR4976:Gpatch11 UTSW 17 78842170 small insertion probably benign
FR4976:Gpatch11 UTSW 17 78842171 small insertion probably benign
FR4976:Gpatch11 UTSW 17 78842172 small insertion probably benign
FR4976:Gpatch11 UTSW 17 78842173 nonsense probably null
FR4976:Gpatch11 UTSW 17 78842180 small insertion probably benign
R1670:Gpatch11 UTSW 17 78839100 missense possibly damaging 0.85
R1986:Gpatch11 UTSW 17 78843837 missense probably benign 0.04
R2071:Gpatch11 UTSW 17 78841085 critical splice donor site probably null
R3056:Gpatch11 UTSW 17 78843843 missense probably damaging 1.00
R4348:Gpatch11 UTSW 17 78841017 missense probably damaging 1.00
R4352:Gpatch11 UTSW 17 78841017 missense probably damaging 1.00
R5426:Gpatch11 UTSW 17 78841234 missense possibly damaging 0.47
R5546:Gpatch11 UTSW 17 78842119 nonsense probably null
R6681:Gpatch11 UTSW 17 78840099 missense probably damaging 1.00
R7221:Gpatch11 UTSW 17 78842117 missense possibly damaging 0.69
R7409:Gpatch11 UTSW 17 78839166 missense probably damaging 1.00
R7662:Gpatch11 UTSW 17 78839055 missense probably benign 0.44
Posted On2014-05-07