Incidental Mutation 'IGL02873:Gm14393'
ID362607
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm14393
Ensembl Gene ENSMUSG00000078905
Gene Namepredicted gene 14393
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL02873
Quality Score
Status
Chromosome2
Chromosomal Location175061549-175067781 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 175061802 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 104 (D104G)
Ref Sequence ENSEMBL: ENSMUSP00000072668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072895] [ENSMUST00000109066]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072895
AA Change: D104G

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000072668
Gene: ENSMUSG00000078905
AA Change: D104G

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik T C 6: 149,327,040 L528P probably damaging Het
4933405O20Rik A T 7: 50,599,683 H155L probably damaging Het
5830462I19Rik G A 9: 110,374,378 probably benign Het
Ankib1 T A 5: 3,772,619 Q29L probably damaging Het
Arid5b A T 10: 68,101,950 M449K probably benign Het
Atp1a1 A G 3: 101,576,578 V1017A probably benign Het
Cfap52 G T 11: 67,931,782 T421K probably damaging Het
Chd8 A T 14: 52,222,513 I780N probably damaging Het
Cubn T C 2: 13,294,370 D3164G probably benign Het
Cyp4f37 A T 17: 32,625,168 Q82L probably benign Het
Eml6 T A 11: 29,880,700 D265V probably benign Het
Gpat2 T C 2: 127,431,755 V271A probably benign Het
Ifna4 T C 4: 88,842,186 F109S probably damaging Het
Il27ra T C 8: 84,031,535 S529G probably benign Het
Jag2 A G 12: 112,910,502 L1011P probably benign Het
Kif7 A G 7: 79,706,759 L728P probably damaging Het
Klhl21 T C 4: 152,015,360 V509A probably benign Het
Map2k4 T A 11: 65,719,574 N92I probably damaging Het
Myo15 A T 11: 60,483,482 D1288V probably damaging Het
Olfr1002 C A 2: 85,647,752 A190S possibly damaging Het
Olfr1281 T C 2: 111,328,872 V151A probably benign Het
Paip1 T A 13: 119,445,812 F275L possibly damaging Het
Plxnd1 T C 6: 115,959,976 D1624G probably damaging Het
Ppwd1 C A 13: 104,209,753 D465Y probably damaging Het
Rftn1 A C 17: 50,169,152 probably benign Het
Scn1b T A 7: 31,117,757 Y180F probably damaging Het
Slc16a4 A G 3: 107,300,795 D207G probably benign Het
Slc2a3 T C 6: 122,740,414 T28A probably damaging Het
Slc47a1 G A 11: 61,362,817 probably benign Het
Spata1 A T 3: 146,487,367 V123D possibly damaging Het
Stard9 T C 2: 120,713,807 V4469A probably damaging Het
Trmu T A 15: 85,896,832 probably null Het
Trrap T A 5: 144,841,079 probably benign Het
Ttn T C 2: 76,896,131 probably benign Het
Tubgcp6 T C 15: 89,103,824 D974G probably benign Het
Tyw1 C T 5: 130,335,330 R621C probably benign Het
Usp7 A T 16: 8,695,194 probably benign Het
Zfp39 T C 11: 58,891,022 K305E probably benign Het
Zfp692 C T 11: 58,308,939 T118M probably damaging Het
Other mutations in Gm14393
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03049:Gm14393 APN 2 175061788 missense probably damaging 1.00
FR4340:Gm14393 UTSW 2 175061634 missense possibly damaging 0.48
FR4976:Gm14393 UTSW 2 175061820 missense probably benign
R1470:Gm14393 UTSW 2 175063981 missense probably damaging 1.00
R1470:Gm14393 UTSW 2 175063981 missense probably damaging 1.00
R3940:Gm14393 UTSW 2 175061627 unclassified probably null
R4214:Gm14393 UTSW 2 175061847 missense probably benign 0.00
R4585:Gm14393 UTSW 2 175062704 unclassified probably benign
R4586:Gm14393 UTSW 2 175062704 unclassified probably benign
R5431:Gm14393 UTSW 2 175063876 missense probably damaging 0.97
R5553:Gm14393 UTSW 2 175061846 nonsense probably null
R5942:Gm14393 UTSW 2 175061896 nonsense probably null
R6497:Gm14393 UTSW 2 175061634 missense possibly damaging 0.48
R7154:Gm14393 UTSW 2 175061783 missense probably damaging 1.00
Posted On2015-12-18