Incidental Mutation 'IGL02676:Gm13083'
ID303117
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm13083
Ensembl Gene ENSMUSG00000066688
Gene Namepredicted gene 13083
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #IGL02676
Quality Score
Status
Chromosome4
Chromosomal Location143615003-143618595 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 143616097 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 258 (F258S)
Ref Sequence ENSEMBL: ENSMUSP00000101399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105773]
Predicted Effect possibly damaging
Transcript: ENSMUST00000105773
AA Change: F258S

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101399
Gene: ENSMUSG00000066688
AA Change: F258S

DomainStartEndE-ValueType
SCOP:d1a4ya_ 223 431 7e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120556
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc G A 18: 34,315,634 S1827N probably damaging Het
Atrnl1 T A 19: 57,691,884 C739S probably damaging Het
Cep350 T C 1: 155,862,231 E2622G possibly damaging Het
Chd5 C T 4: 152,356,073 probably benign Het
Chst11 T A 10: 83,191,729 L330Q probably damaging Het
Clcnka A T 4: 141,392,783 V275E probably damaging Het
Clip4 G A 17: 71,828,621 S456N probably damaging Het
Cmya5 A T 13: 93,092,853 I1909N probably damaging Het
Cyp26b1 A G 6: 84,576,644 I176T probably damaging Het
Dst A G 1: 34,307,587 R7717G probably damaging Het
Eml2 C T 7: 19,184,921 R99* probably null Het
Fibin T C 2: 110,362,584 Q71R probably benign Het
Fsip2 T G 2: 82,982,157 I2940S possibly damaging Het
Gabrb3 G T 7: 57,591,364 probably benign Het
Gfra1 G A 19: 58,453,355 T48I probably damaging Het
Gm6205 A G 5: 94,683,871 T246A possibly damaging Het
Gm6483 C T 8: 19,693,659 noncoding transcript Het
Hdgfl1 G A 13: 26,769,365 R242C possibly damaging Het
Hmcn1 T C 1: 150,619,009 T4110A probably benign Het
Lama2 T G 10: 27,118,493 M1807L probably benign Het
Larp4 T C 15: 99,990,421 V113A possibly damaging Het
Mkx T C 18: 7,000,640 T101A probably benign Het
Nfe2l1 A G 11: 96,827,665 F15L probably damaging Het
Nif3l1 G A 1: 58,455,736 probably null Het
Nop14 A G 5: 34,639,221 V764A probably damaging Het
Nosip C A 7: 45,077,328 A259E probably damaging Het
Ntn5 T C 7: 45,691,876 probably benign Het
Olfr1016 T C 2: 85,799,590 I227V possibly damaging Het
Phospho1 G A 11: 95,830,888 G128D probably damaging Het
Ppp4r3a G A 12: 101,042,511 T703M probably benign Het
Prdm8 G A 5: 98,186,559 E662K probably damaging Het
Ralgapa1 A G 12: 55,676,417 S1775P probably damaging Het
Rapgef6 T C 11: 54,649,346 probably benign Het
Rasef T C 4: 73,759,729 T87A possibly damaging Het
Scrn3 A G 2: 73,329,871 Q286R probably benign Het
Sema3d A T 5: 12,570,978 Q517L probably benign Het
Slc9a3r2 A T 17: 24,641,956 V204E probably damaging Het
Taf6l T C 19: 8,775,049 Y425C probably damaging Het
Tbk1 T C 10: 121,568,080 N254S possibly damaging Het
Tcf3 C T 10: 80,421,091 G64R probably damaging Het
Tmco4 T C 4: 139,023,069 probably null Het
Trappc11 A G 8: 47,493,413 probably benign Het
Vmn1r19 A T 6: 57,405,040 I193F possibly damaging Het
Vmn2r14 G A 5: 109,220,016 T370I probably benign Het
Vmn2r65 T A 7: 84,940,173 H845L possibly damaging Het
Vmn2r98 A T 17: 19,065,259 T114S probably benign Het
Zfp280d A T 9: 72,335,074 R661S probably damaging Het
Zranb1 T C 7: 132,966,681 I356T probably benign Het
Other mutations in Gm13083
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02052:Gm13083 APN 4 143615073 missense probably benign 0.00
IGL02390:Gm13083 APN 4 143615325 missense probably benign 0.29
IGL03381:Gm13083 APN 4 143617055 splice site probably benign
IGL03410:Gm13083 APN 4 143615281 missense probably benign 0.02
H8562:Gm13083 UTSW 4 143615350 splice site probably benign
PIT4151001:Gm13083 UTSW 4 143616152 nonsense probably null
R0157:Gm13083 UTSW 4 143615796 missense probably damaging 0.98
R0352:Gm13083 UTSW 4 143615989 missense possibly damaging 0.92
R0494:Gm13083 UTSW 4 143616156 missense probably benign 0.33
R0688:Gm13083 UTSW 4 143617357 missense probably benign 0.00
R0884:Gm13083 UTSW 4 143615184 missense probably benign 0.01
R1267:Gm13083 UTSW 4 143615734 missense possibly damaging 0.95
R1418:Gm13083 UTSW 4 143616034 missense probably benign 0.15
R1761:Gm13083 UTSW 4 143615868 missense probably benign 0.00
R3148:Gm13083 UTSW 4 143617477 missense probably benign 0.30
R4063:Gm13083 UTSW 4 143615989 missense possibly damaging 0.77
R4115:Gm13083 UTSW 4 143617456 missense probably benign 0.06
R4760:Gm13083 UTSW 4 143617231 missense probably benign 0.04
R5516:Gm13083 UTSW 4 143615683 missense possibly damaging 0.49
R5603:Gm13083 UTSW 4 143617496 nonsense probably null
R5724:Gm13083 UTSW 4 143617456 missense probably benign 0.06
R5796:Gm13083 UTSW 4 143615208 missense probably benign 0.12
R5879:Gm13083 UTSW 4 143617591 missense possibly damaging 0.64
R6181:Gm13083 UTSW 4 143616258 critical splice donor site probably null
R7155:Gm13083 UTSW 4 143616165 missense probably benign 0.01
R7492:Gm13083 UTSW 4 143616174 missense not run
R7913:Gm13083 UTSW 4 143615045 missense possibly damaging 0.87
R7995:Gm13083 UTSW 4 143616000 missense possibly damaging 0.89
R8126:Gm13083 UTSW 4 143617065 missense possibly damaging 0.87
Z1088:Gm13083 UTSW 4 143615232 missense possibly damaging 0.78
Z1177:Gm13083 UTSW 4 143616160 missense probably benign 0.05
Posted On2015-04-16