Incidental Mutation 'IGL02705:Gm13084'
ID304299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm13084
Ensembl Gene ENSMUSG00000059218
Gene Namepredicted gene 13084
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL02705
Quality Score
Status
Chromosome4
Chromosomal Location143809245-143816093 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 143810802 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 320 (S320P)
Ref Sequence ENSEMBL: ENSMUSP00000101395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075045] [ENSMUST00000105769]
Predicted Effect possibly damaging
Transcript: ENSMUST00000075045
AA Change: S320P

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000074557
Gene: ENSMUSG00000059218
AA Change: S320P

DomainStartEndE-ValueType
SCOP:d1a4ya_ 222 409 9e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105769
AA Change: S320P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101395
Gene: ENSMUSG00000059218
AA Change: S320P

DomainStartEndE-ValueType
low complexity region 223 238 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137635
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik A G 1: 151,915,513 F99S probably damaging Het
Ankrd17 G A 5: 90,283,115 P937S probably benign Het
Apom T G 17: 35,130,495 probably null Het
Baz2b A G 2: 59,948,260 I752T possibly damaging Het
Bcat1 T C 6: 145,019,188 probably benign Het
Bcl9 A G 3: 97,204,865 F1425L possibly damaging Het
Bco1 G A 8: 117,117,503 V319M possibly damaging Het
Dmwd C A 7: 19,080,844 T473K probably benign Het
Fam71a T C 1: 191,164,302 Y48C probably damaging Het
Gata2 C T 6: 88,205,364 A438V possibly damaging Het
Ifnz A G 4: 88,783,337 probably benign Het
Myh14 T C 7: 44,608,536 I1859V possibly damaging Het
Ndn A G 7: 62,349,108 D234G probably damaging Het
Nfe2l3 T C 6: 51,433,118 L71P probably damaging Het
Nfia T G 4: 97,783,368 L105R probably damaging Het
Npy2r T A 3: 82,540,749 T127S probably benign Het
Olfr570 T C 7: 102,901,242 Y292H probably damaging Het
Olfr834 T A 9: 18,988,400 N137K probably benign Het
Ppip5k2 A T 1: 97,759,199 C94S probably damaging Het
Slc1a6 T C 10: 78,801,954 V438A probably damaging Het
Slc6a7 C T 18: 61,009,428 G71R probably damaging Het
Styk1 C T 6: 131,312,583 V23I probably benign Het
Tmprss5 C A 9: 49,107,147 N92K probably benign Het
Trpm6 T G 19: 18,776,733 probably null Het
Ttn C T 2: 76,846,770 probably benign Het
Vmn2r109 G A 17: 20,553,800 A431V probably benign Het
Wdr17 C T 8: 54,648,215 probably null Het
Zcchc6 A G 13: 59,789,203 F808S probably damaging Het
Zfp407 G T 18: 84,559,031 S1319* probably null Het
Other mutations in Gm13084
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Gm13084 APN 4 143812723 missense probably benign 0.32
IGL01075:Gm13084 APN 4 143811646 missense possibly damaging 0.47
IGL03011:Gm13084 APN 4 143811760 missense possibly damaging 0.95
PIT4498001:Gm13084 UTSW 4 143812836 missense possibly damaging 0.63
R0268:Gm13084 UTSW 4 143810768 missense probably damaging 1.00
R0344:Gm13084 UTSW 4 143810768 missense probably damaging 1.00
R0390:Gm13084 UTSW 4 143811699 missense probably benign 0.09
R0597:Gm13084 UTSW 4 143812652 missense probably damaging 0.98
R0646:Gm13084 UTSW 4 143812585 missense possibly damaging 0.83
R0927:Gm13084 UTSW 4 143812808 missense probably benign 0.05
R0973:Gm13084 UTSW 4 143811858 missense probably damaging 1.00
R1851:Gm13084 UTSW 4 143812826 missense probably benign 0.33
R1852:Gm13084 UTSW 4 143812826 missense probably benign 0.33
R3699:Gm13084 UTSW 4 143810352 missense probably benign 0.05
R3705:Gm13084 UTSW 4 143811775 missense probably benign 0.06
R3845:Gm13084 UTSW 4 143811975 missense probably damaging 0.96
R4035:Gm13084 UTSW 4 143810456 missense probably benign 0.08
R4044:Gm13084 UTSW 4 143811600 missense probably benign 0.34
R4439:Gm13084 UTSW 4 143811573 missense possibly damaging 0.49
R4660:Gm13084 UTSW 4 143811865 missense probably benign 0.19
R4770:Gm13084 UTSW 4 143811949 missense probably damaging 0.96
R4838:Gm13084 UTSW 4 143810805 nonsense probably null
R5534:Gm13084 UTSW 4 143812599 nonsense probably null
R5691:Gm13084 UTSW 4 143812009 missense probably benign 0.44
R5893:Gm13084 UTSW 4 143810468 missense probably damaging 1.00
R6123:Gm13084 UTSW 4 143812764 missense possibly damaging 0.89
R6285:Gm13084 UTSW 4 143816039 missense probably damaging 1.00
R6886:Gm13084 UTSW 4 143812762 missense probably benign 0.29
R7105:Gm13084 UTSW 4 143810771 missense probably benign 0.04
R7135:Gm13084 UTSW 4 143810663 missense probably damaging 1.00
Posted On2015-04-16