Incidental Mutation 'IGL02147:Gm5065'
ID281817
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5065
Ensembl Gene ENSMUSG00000048398
Gene Namepredicted gene 5065
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.527) question?
Stock #IGL02147
Quality Score
Status
Chromosome7
Chromosomal Location5350537-5360682 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 5359733 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 121 (I121N)
Ref Sequence ENSEMBL: ENSMUSP00000146867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056639] [ENSMUST00000207531]
Predicted Effect probably damaging
Transcript: ENSMUST00000056639
AA Change: I121N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055799
Gene: ENSMUSG00000048398
AA Change: I121N

DomainStartEndE-ValueType
GLECT 31 165 1.56e-15 SMART
Gal-bind_lectin 37 165 2.51e-43 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000207531
AA Change: I121N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021P04Rik T C 19: 24,064,963 noncoding transcript Het
Acadsb T A 7: 131,425,881 probably benign Het
Ambra1 A G 2: 91,767,719 H75R probably benign Het
Arhgef28 T A 13: 97,961,314 I931F probably damaging Het
Cdk5 T C 5: 24,420,320 N165D probably benign Het
Col4a2 A T 8: 11,408,140 Y272F probably benign Het
Csde1 T A 3: 103,039,934 D67E probably damaging Het
Dhx34 T C 7: 16,204,003 H724R probably benign Het
Dhx57 T C 17: 80,260,323 D777G possibly damaging Het
Fat3 A C 9: 15,995,985 V2907G probably damaging Het
Fst T C 13: 114,454,360 Y290C probably damaging Het
Ighg2b A T 12: 113,306,391 *336R probably null Het
Igkv4-92 C T 6: 68,755,252 S46N probably damaging Het
Kdm2b C T 5: 122,947,835 E238K probably damaging Het
Lmtk2 A G 5: 144,156,936 M244V possibly damaging Het
Mcoln1 T C 8: 3,508,379 F211S probably benign Het
Mib2 C A 4: 155,657,687 R209L probably benign Het
Msx3 C A 7: 140,048,885 V39L possibly damaging Het
Mtnr1b A G 9: 15,863,376 F129S probably damaging Het
Nr3c2 A G 8: 76,909,067 S266G probably damaging Het
Nup160 G T 2: 90,703,941 L703F probably benign Het
Olfr1093 A G 2: 86,786,150 N140S probably benign Het
Olfr95 T A 17: 37,210,986 Y289F probably damaging Het
Pcyt1a T A 16: 32,462,098 N105K probably damaging Het
Pdhx A G 2: 103,030,341 probably benign Het
Qpct T C 17: 79,070,716 V105A probably damaging Het
Ros1 A C 10: 52,120,895 F1227C probably damaging Het
Rrp12 A T 19: 41,886,181 V342E probably damaging Het
Sart3 A G 5: 113,762,943 probably benign Het
Slc6a18 T A 13: 73,668,162 K366M probably damaging Het
Smarca4 A G 9: 21,635,703 N175D probably damaging Het
Sox14 T C 9: 99,875,545 K47R probably damaging Het
Trcg1 A T 9: 57,245,849 I592F probably benign Het
Ush2a T C 1: 188,864,703 M3880T probably benign Het
Usp20 T C 2: 31,006,401 F172S probably damaging Het
Vmn2r4 C T 3: 64,398,361 probably benign Het
Other mutations in Gm5065
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02060:Gm5065 APN 7 5359564 missense probably damaging 0.99
R0771:Gm5065 UTSW 7 5359823 missense probably damaging 1.00
R0906:Gm5065 UTSW 7 5359829 missense probably damaging 0.99
R2018:Gm5065 UTSW 7 5359574 missense probably benign 0.18
R2258:Gm5065 UTSW 7 5359402 missense probably benign
R2519:Gm5065 UTSW 7 5359834 missense probably damaging 1.00
R2865:Gm5065 UTSW 7 5359669 missense probably benign 0.25
R5893:Gm5065 UTSW 7 5359624 missense probably benign 0.00
R7485:Gm5065 UTSW 7 5359441 missense probably benign 0.39
R7716:Gm5065 UTSW 7 5359820 missense possibly damaging 0.56
R7836:Gm5065 UTSW 7 5359508 missense probably damaging 1.00
R7898:Gm5065 UTSW 7 5359442 missense probably benign 0.22
R7919:Gm5065 UTSW 7 5359508 missense probably damaging 1.00
R7981:Gm5065 UTSW 7 5359442 missense probably benign 0.22
Posted On2015-04-16