Incidental Mutation 'IGL03049:Gm14393'
ID 409004
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm14393
Ensembl Gene ENSMUSG00000078905
Gene Name predicted gene 14393
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # IGL03049
Quality Score
Status
Chromosome 2
Chromosomal Location 174903342-174909574 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 174903581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 109 (G109C)
Ref Sequence ENSEMBL: ENSMUSP00000072668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072895] [ENSMUST00000109066]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000072895
AA Change: G109C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072668
Gene: ENSMUSG00000078905
AA Change: G109C

DomainStartEndE-ValueType
KRAB 4 66 9.34e-15 SMART
ZnF_C2H2 103 125 8.47e-4 SMART
ZnF_C2H2 131 153 9.22e-5 SMART
ZnF_C2H2 159 181 1.03e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109066
SMART Domains Protein: ENSMUSP00000104694
Gene: ENSMUSG00000078905

DomainStartEndE-ValueType
KRAB 4 64 1.21e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122320
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef19 A G 4: 140,981,627 (GRCm39) H645R probably damaging Het
Asic5 A G 3: 81,904,256 (GRCm39) probably benign Het
Atp6v0a2 T C 5: 124,789,845 (GRCm39) F424L probably damaging Het
Clca4a A T 3: 144,676,516 (GRCm39) probably benign Het
Eif3k A G 7: 28,670,858 (GRCm39) S178P possibly damaging Het
Elp2 C T 18: 24,764,516 (GRCm39) T621I probably benign Het
Exoc3l4 T C 12: 111,389,835 (GRCm39) S137P probably damaging Het
Gp2 A G 7: 119,049,517 (GRCm39) V340A possibly damaging Het
Hic2 A G 16: 17,075,800 (GRCm39) S210G probably benign Het
Lcn3 T A 2: 25,655,586 (GRCm39) M1K probably null Het
Ldlr A G 9: 21,657,115 (GRCm39) E692G probably benign Het
Ly75 T C 2: 60,182,414 (GRCm39) N587S probably damaging Het
Msh2 T C 17: 88,015,937 (GRCm39) F523S probably damaging Het
Mtmr4 T A 11: 87,505,060 (GRCm39) I1185N probably damaging Het
Ncoa6 T A 2: 155,260,934 (GRCm39) K519N probably damaging Het
Or4c103 C T 2: 88,513,834 (GRCm39) V81M possibly damaging Het
Or52z14 A T 7: 103,253,298 (GRCm39) I146F probably damaging Het
Or7c70 T A 10: 78,683,356 (GRCm39) H131L possibly damaging Het
Ppp1r13b T C 12: 111,799,663 (GRCm39) T705A probably benign Het
Ripor1 A G 8: 106,342,079 (GRCm39) D119G probably damaging Het
Scn10a A G 9: 119,495,056 (GRCm39) V395A probably damaging Het
Slc18b1 T C 10: 23,698,844 (GRCm39) V338A probably benign Het
Usp10 A G 8: 120,683,366 (GRCm39) T746A probably benign Het
Other mutations in Gm14393
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02873:Gm14393 APN 2 174,903,595 (GRCm39) missense possibly damaging 0.53
FR4340:Gm14393 UTSW 2 174,903,427 (GRCm39) missense possibly damaging 0.48
FR4976:Gm14393 UTSW 2 174,903,613 (GRCm39) missense probably benign
R1470:Gm14393 UTSW 2 174,905,774 (GRCm39) missense probably damaging 1.00
R1470:Gm14393 UTSW 2 174,905,774 (GRCm39) missense probably damaging 1.00
R3940:Gm14393 UTSW 2 174,903,420 (GRCm39) splice site probably null
R4214:Gm14393 UTSW 2 174,903,640 (GRCm39) missense probably benign 0.00
R4585:Gm14393 UTSW 2 174,904,497 (GRCm39) unclassified probably benign
R4586:Gm14393 UTSW 2 174,904,497 (GRCm39) unclassified probably benign
R5431:Gm14393 UTSW 2 174,905,669 (GRCm39) missense probably damaging 0.97
R5553:Gm14393 UTSW 2 174,903,639 (GRCm39) nonsense probably null
R5942:Gm14393 UTSW 2 174,903,689 (GRCm39) nonsense probably null
R6497:Gm14393 UTSW 2 174,903,427 (GRCm39) missense possibly damaging 0.48
R7154:Gm14393 UTSW 2 174,903,576 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02