Incidental Mutation 'IGL03116:Gpatch11'
ID419430
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 #IGL03116
Quality Score
Status
Chromosome17
Chromosomal Location78835516-78848299 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 78843853 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 231 (L231*)
Ref Sequence ENSEMBL: ENSMUSP00000126814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170759]
Predicted Effect probably null
Transcript: ENSMUST00000170759
AA Change: L231*
SMART Domains Protein: ENSMUSP00000126814
Gene: ENSMUSG00000050668
AA Change: L231*

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik T C X: 12,669,653 probably benign Het
9530068E07Rik A G 11: 52,403,504 I199V probably benign Het
Aasdh A T 5: 76,902,089 probably null Het
Aatk T C 11: 120,016,751 I84V probably benign Het
Adcy1 A G 11: 7,150,071 H727R probably benign Het
Aff2 T C X: 69,834,486 V626A probably benign Het
Ano2 C A 6: 125,980,171 Y634* probably null Het
Apob C A 12: 8,016,350 Q4407K probably damaging Het
Asz1 T C 6: 18,076,643 probably benign Het
Atp2b4 T G 1: 133,728,768 T715P possibly damaging Het
Brip1 G T 11: 86,064,909 S926* probably null Het
Cpd A T 11: 76,811,713 Y610N probably damaging Het
Dennd4c T C 4: 86,788,820 probably benign Het
Dido1 G A 2: 180,670,979 T1041I probably damaging Het
Dpp8 A T 9: 65,066,467 T658S probably damaging Het
Fcer1a G A 1: 173,221,561 Q172* probably null Het
Frem3 A G 8: 80,612,806 E576G possibly damaging Het
Gcsam T C 16: 45,620,068 F136S possibly damaging Het
Glmn T G 5: 107,551,083 T430P probably damaging Het
Gm11639 T A 11: 104,721,533 S661T probably benign Het
Gm5934 T C X: 24,474,692 N194S probably benign Het
Hibadh A T 6: 52,548,932 N244K probably damaging Het
Kank2 A G 9: 21,772,764 V723A probably damaging Het
Kcnn2 A T 18: 45,655,206 D192V probably damaging Het
Ksr2 G A 5: 117,707,957 E630K probably benign Het
Lmod3 T C 6: 97,247,195 H555R possibly damaging Het
Mycs A G X: 5,468,868 F53L probably damaging Het
Ndufa10 G A 1: 92,464,387 Q215* probably null Het
Ninl C T 2: 150,964,219 A361T probably damaging Het
Pbsn A G X: 77,848,018 C58R probably damaging Het
Pcsk1 T A 13: 75,132,216 L720Q probably damaging Het
Prss12 T C 3: 123,506,276 F679L probably benign Het
Sohlh1 C T 2: 25,845,648 probably null Het
Sspo T C 6: 48,494,101 F701L probably benign Het
Tdp1 T C 12: 99,955,031 S609P probably benign Het
Tmtc4 T A 14: 122,927,632 N605I probably benign Het
Tnc G A 4: 64,014,033 P715S probably damaging Het
Ubn2 T C 6: 38,491,899 S1181P probably damaging Het
Ubr4 T C 4: 139,479,581 probably benign Het
Vmn1r46 T C 6: 89,976,916 F249S probably benign Het
Zfp382 T C 7: 30,134,189 S422P probably damaging Het
Other mutations in Gpatch11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02007:Gpatch11 APN 17 78842164 missense probably benign
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
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 On2016-08-02