Incidental Mutation 'IGL00976:Gm13078'
ID27341
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm13078
Ensembl Gene ENSMUSG00000046435
Gene Namepredicted gene 13078
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #IGL00976
Quality Score
Status
Chromosome4
Chromosomal Location143719455-143729158 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 143727015 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 231 (M231K)
Ref Sequence ENSEMBL: ENSMUSP00000077761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078695]
Predicted Effect probably damaging
Transcript: ENSMUST00000078695
AA Change: M231K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077761
Gene: ENSMUSG00000046435
AA Change: M231K

DomainStartEndE-ValueType
SCOP:d1a4ya_ 204 412 4e-12 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519F16Rik A G X: 103,183,262 probably benign Het
Aldob C A 4: 49,541,220 V151L probably damaging Het
Cacna1i G A 15: 80,355,645 M298I probably benign Het
Capn3 A G 2: 120,491,901 N414S possibly damaging Het
Ccdc186 G A 19: 56,797,500 T701M probably damaging Het
Ccdc190 A T 1: 169,933,740 H137L probably benign Het
Clhc1 G A 11: 29,561,389 D278N probably benign Het
Cntnap3 T C 13: 64,794,352 Y188C probably damaging Het
Dnah1 A C 14: 31,278,138 V2466G probably damaging Het
Dnah8 A G 17: 30,851,710 T4457A probably damaging Het
Hectd4 A G 5: 121,349,106 Q3388R probably benign Het
Hecw1 T A 13: 14,318,972 D316V probably damaging Het
Il1rap T C 16: 26,698,839 V263A probably benign Het
Il6 G A 5: 30,014,841 G72S probably benign Het
Katnal2 T C 18: 77,017,493 Y86C probably damaging Het
Kdm7a G T 6: 39,144,398 S874R possibly damaging Het
Mybpc2 T C 7: 44,522,317 probably null Het
Nphs1 T G 7: 30,460,685 S130A possibly damaging Het
Ntrk3 C T 7: 78,450,953 V444I probably benign Het
Numbl T C 7: 27,268,810 V144A possibly damaging Het
Olfr952 T A 9: 39,426,657 Y138F probably benign Het
P2rx1 T C 11: 73,013,000 probably null Het
Pcdhb3 G A 18: 37,302,948 V656I probably benign Het
Pole A G 5: 110,323,572 Y1394C probably benign Het
Rbm47 A G 5: 66,026,738 V174A possibly damaging Het
Rhox4f T C X: 37,604,395 probably benign Het
Serpina12 T C 12: 104,032,528 Y317C probably damaging Het
Slc12a5 T A 2: 164,979,304 I236N probably damaging Het
Slc4a4 G A 5: 88,954,798 G32R probably damaging Het
Slco1a4 T C 6: 141,807,182 probably null Het
Sorcs3 A T 19: 48,767,103 N894I probably damaging Het
Stk38l A G 6: 146,775,402 E393G probably benign Het
Synpo A G 18: 60,603,419 I485T possibly damaging Het
Tenm3 T A 8: 48,256,841 M1687L probably benign Het
Ttc39c T C 18: 12,684,895 probably benign Het
Unc13d T C 11: 116,070,467 E378G probably damaging Het
Vmn2r118 T A 17: 55,593,204 N567Y probably damaging Het
Other mutations in Gm13078
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01122:Gm13078 APN 4 143728401 missense probably benign 0.13
IGL02314:Gm13078 APN 4 143728442 missense probably benign 0.00
IGL03089:Gm13078 APN 4 143726133 missense probably benign 0.43
IGL03338:Gm13078 APN 4 143726742 missense probably benign 0.01
R0233:Gm13078 UTSW 4 143726063 missense possibly damaging 0.71
R0233:Gm13078 UTSW 4 143726063 missense possibly damaging 0.71
R0349:Gm13078 UTSW 4 143727059 missense probably benign 0.00
R0681:Gm13078 UTSW 4 143728052 missense probably benign
R0963:Gm13078 UTSW 4 143727108 missense possibly damaging 0.50
R1114:Gm13078 UTSW 4 143726855 missense probably benign 0.01
R2070:Gm13078 UTSW 4 143726902 nonsense probably null
R2475:Gm13078 UTSW 4 143726825 missense probably benign 0.14
R3824:Gm13078 UTSW 4 143726685 missense probably benign 0.00
R4050:Gm13078 UTSW 4 143727122 missense probably benign 0.01
R4125:Gm13078 UTSW 4 143726280 nonsense probably null
R4273:Gm13078 UTSW 4 143726846 nonsense probably null
R4280:Gm13078 UTSW 4 143726022 missense possibly damaging 0.94
R4921:Gm13078 UTSW 4 143728326 missense possibly damaging 0.95
R5223:Gm13078 UTSW 4 143728021 missense probably benign 0.00
R7256:Gm13078 UTSW 4 143726279 missense probably benign 0.23
Z1088:Gm13078 UTSW 4 143727033 missense probably damaging 1.00
Posted On2013-04-17