Incidental Mutation 'IGL02852:Gm14226'
ID361954
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm14226
Ensembl Gene ENSMUSG00000084897
Gene Namepredicted gene 14226
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.139) question?
Stock #IGL02852
Quality Score
Status
Chromosome2
Chromosomal Location155018266-155027104 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 155024921 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 266 (S266N)
Ref Sequence ENSEMBL: ENSMUSP00000122157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029123] [ENSMUST00000109697] [ENSMUST00000130870] [ENSMUST00000137333] [ENSMUST00000148402]
Predicted Effect probably benign
Transcript: ENSMUST00000029123
SMART Domains Protein: ENSMUSP00000029123
Gene: ENSMUSG00000027596

DomainStartEndE-ValueType
Agouti 6 127 3.98e-69 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109697
SMART Domains Protein: ENSMUSP00000105319
Gene: ENSMUSG00000027596

DomainStartEndE-ValueType
Agouti 6 127 3.98e-69 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000130870
AA Change: S266N

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122157
Gene: ENSMUSG00000084897
AA Change: S266N

DomainStartEndE-ValueType
Pfam:TLV_coat 14 627 1.4e-139 PFAM
low complexity region 649 662 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132342
Predicted Effect probably benign
Transcript: ENSMUST00000137333
SMART Domains Protein: ENSMUSP00000122261
Gene: ENSMUSG00000027596

DomainStartEndE-ValueType
Agouti 6 70 2.53e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148402
SMART Domains Protein: ENSMUSP00000121072
Gene: ENSMUSG00000027596

DomainStartEndE-ValueType
Agouti 6 75 2.32e-6 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcar1 A T 8: 111,715,347 L287* probably null Het
Birc3 A G 9: 7,854,483 I402T probably damaging Het
Btrc T A 19: 45,512,656 L153* probably null Het
C2cd3 T C 7: 100,430,189 F1245L probably damaging Het
Cabp7 C T 11: 4,738,912 R186H probably damaging Het
Cdk5r2 T C 1: 74,856,139 S348P probably benign Het
Clca3a2 T C 3: 144,806,343 D544G probably damaging Het
Col6a6 A C 9: 105,784,073 I279S probably damaging Het
Csmd1 T A 8: 15,895,728 T3562S probably damaging Het
Dgkd T C 1: 87,935,413 S61P probably damaging Het
Dph5 T A 3: 115,928,671 M266K possibly damaging Het
Gm28047 A G 15: 102,538,218 V400A possibly damaging Het
Gm4788 T C 1: 139,774,016 Y120C probably damaging Het
Gucy1a2 A G 9: 3,759,691 D499G probably benign Het
Hoxb7 C T 11: 96,289,494 T173M possibly damaging Het
Kcnn3 T A 3: 89,609,616 I444N probably damaging Het
Kif1b A G 4: 149,291,328 I27T probably damaging Het
Krtap8-1 A G 16: 89,487,865 Y15H probably benign Het
Myo18b C T 5: 112,715,511 V2154I probably benign Het
Pcdhb3 A G 18: 37,302,097 D372G probably damaging Het
Pfkp G T 13: 6,605,023 P340Q possibly damaging Het
Plcd3 C T 11: 103,073,805 R580Q probably damaging Het
Pou5f2 G A 13: 78,025,059 R40Q probably benign Het
Ppara G T 15: 85,797,878 M258I probably benign Het
Proc A G 18: 32,125,155 S246P probably damaging Het
Ptpn21 T C 12: 98,715,195 probably null Het
Ripor2 T C 13: 24,695,698 F383S probably damaging Het
Rnf39 T C 17: 36,945,202 probably benign Het
Sema6c C A 3: 95,169,984 probably benign Het
Slc16a5 A G 11: 115,469,579 E196G probably benign Het
Slco1c1 T A 6: 141,547,824 L313* probably null Het
Slit2 T C 5: 48,244,672 F789S probably damaging Het
Spta1 A G 1: 174,244,110 M2219V probably benign Het
Sqle A T 15: 59,326,071 H380L probably damaging Het
Tek T C 4: 94,855,324 Y859H probably damaging Het
Trcg1 A T 9: 57,241,312 T56S possibly damaging Het
Ttc23 T A 7: 67,667,155 probably benign Het
Ttn A G 2: 76,944,304 probably benign Het
Uba1y C T Y: 828,841 R550* probably null Het
Ubqln4 T C 3: 88,555,471 V81A probably damaging Het
Ugt2b38 C T 5: 87,411,741 E431K probably benign Het
Vmn1r85 T G 7: 13,085,083 I45L possibly damaging Het
Vmn2r68 T G 7: 85,233,387 S386R probably damaging Het
Washc4 A G 10: 83,583,309 T902A possibly damaging Het
Zc3h15 G A 2: 83,644,671 A7T possibly damaging Het
Zdhhc19 A C 16: 32,497,642 T72P probably damaging Het
Zfp729a A T 13: 67,619,951 S720T possibly damaging Het
Zfp729b T C 13: 67,592,823 K441R probably damaging Het
Zfy2 C T Y: 2,106,894 G580D probably benign Het
Zfy2 T A Y: 2,117,188 H213L probably benign Het
Other mutations in Gm14226
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Gm14226 APN 2 155025158 missense probably damaging 1.00
R0279:Gm14226 UTSW 2 155025452 missense possibly damaging 0.82
R1393:Gm14226 UTSW 2 155024191 missense probably damaging 1.00
R1740:Gm14226 UTSW 2 155024931 intron probably benign
R1758:Gm14226 UTSW 2 155025458 missense probably damaging 1.00
R1816:Gm14226 UTSW 2 155025629 missense probably damaging 1.00
R1837:Gm14226 UTSW 2 155025010 missense probably benign 0.31
R1951:Gm14226 UTSW 2 155024335 missense possibly damaging 0.92
R4485:Gm14226 UTSW 2 155025271 missense probably benign 0.18
R4947:Gm14226 UTSW 2 155024959 missense probably benign 0.21
R5061:Gm14226 UTSW 2 155025186 missense probably benign 0.13
R5673:Gm14226 UTSW 2 155024922 missense possibly damaging 0.81
R5863:Gm14226 UTSW 2 155024291 missense probably benign 0.19
R6525:Gm14226 UTSW 2 155025083 missense possibly damaging 0.67
R6996:Gm14226 UTSW 2 155024437 missense probably benign 0.00
R7546:Gm14226 UTSW 2 155025211 missense probably damaging 0.96
R7593:Gm14226 UTSW 2 155024194 missense unknown
R7775:Gm14226 UTSW 2 155024710 missense possibly damaging 0.71
R7778:Gm14226 UTSW 2 155024710 missense possibly damaging 0.71
R8254:Gm14226 UTSW 2 155024726 missense possibly damaging 0.52
R8558:Gm14226 UTSW 2 155024989 missense probably benign 0.03
R8712:Gm14226 UTSW 2 155024174 missense unknown
R8815:Gm14226 UTSW 2 155024618 nonsense probably null
Posted On2015-12-18