Incidental Mutation 'IGL03293:Gcnt7'
ID 415978
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcnt7
Ensembl Gene ENSMUSG00000074569
Gene Name glucosaminyl (N-acetyl) transferase family member 7
Synonyms A330041C17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL03293
Quality Score
Status
Chromosome 2
Chromosomal Location 172292233-172300516 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 172296303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 174 (T174A)
Ref Sequence ENSEMBL: ENSMUSP00000096659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029005] [ENSMUST00000099060]
AlphaFold Q3V3K7
Predicted Effect probably benign
Transcript: ENSMUST00000029005
SMART Domains Protein: ENSMUSP00000029005
Gene: ENSMUSG00000027502

DomainStartEndE-ValueType
Pfam:Rtf2 1 290 1.5e-99 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000099060
AA Change: T174A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000096659
Gene: ENSMUSG00000074569
AA Change: T174A

DomainStartEndE-ValueType
low complexity region 31 40 N/A INTRINSIC
Pfam:Branch 115 377 5.8e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000109132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140048
Predicted Effect unknown
Transcript: ENSMUST00000161334
AA Change: T120A
SMART Domains Protein: ENSMUSP00000125368
Gene: ENSMUSG00000074569
AA Change: T120A

DomainStartEndE-ValueType
Pfam:Branch 62 285 1.7e-38 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,615,375 (GRCm39) probably null Het
Akr1c14 C T 13: 4,129,130 (GRCm39) R45* probably null Het
Ccdc62 T A 5: 124,089,288 (GRCm39) L309I possibly damaging Het
Ccdc66 T A 14: 27,212,628 (GRCm39) N565I probably damaging Het
Cerkl G T 2: 79,172,719 (GRCm39) A318E probably damaging Het
Clec4n A T 6: 123,209,105 (GRCm39) T57S probably benign Het
Cluh A G 11: 74,556,578 (GRCm39) E921G probably benign Het
Cnbd1 C T 4: 18,860,565 (GRCm39) E394K possibly damaging Het
Dmgdh G T 13: 93,843,209 (GRCm39) M348I probably benign Het
Dnajc13 G A 9: 104,051,625 (GRCm39) S1744L possibly damaging Het
Dspp A T 5: 104,325,427 (GRCm39) S597C unknown Het
Dync1h1 A T 12: 110,595,168 (GRCm39) N1360I probably benign Het
Eepd1 A G 9: 25,514,708 (GRCm39) H505R possibly damaging Het
Entr1 A T 2: 26,277,688 (GRCm39) probably benign Het
Gnb1 T C 4: 155,625,004 (GRCm39) probably benign Het
Gpam A G 19: 55,059,448 (GRCm39) S800P probably benign Het
Gsr T C 8: 34,185,024 (GRCm39) probably benign Het
Herc2 A G 7: 55,804,878 (GRCm39) K2302R probably benign Het
Hipk1 C A 3: 103,684,575 (GRCm39) A347S possibly damaging Het
Iqgap2 T C 13: 95,867,942 (GRCm39) N222S probably damaging Het
Marco T A 1: 120,422,524 (GRCm39) M46L probably benign Het
Morc2b A T 17: 33,357,337 (GRCm39) V145D probably damaging Het
Mprip C A 11: 59,586,989 (GRCm39) P54Q probably damaging Het
Ndufv2 A T 17: 66,390,444 (GRCm39) C175* probably null Het
Or13c25 A G 4: 52,910,835 (GRCm39) *320Q probably null Het
Or4p20 T C 2: 88,253,571 (GRCm39) D266G probably damaging Het
Orc3 A C 4: 34,595,210 (GRCm39) I195S probably damaging Het
Otos C A 1: 92,572,135 (GRCm39) E64* probably null Het
Plxna2 T C 1: 194,487,253 (GRCm39) S1603P probably damaging Het
Rlf A T 4: 121,005,527 (GRCm39) I1151N probably benign Het
Scaper A G 9: 55,782,107 (GRCm39) V283A probably benign Het
Slc25a43 A G X: 36,039,252 (GRCm39) T270A probably benign Het
Slc35a5 A G 16: 44,964,144 (GRCm39) V78A probably damaging Het
Smurf1 A T 5: 144,818,609 (GRCm39) D636E probably benign Het
Tchhl1 A T 3: 93,377,582 (GRCm39) E95D probably damaging Het
Tcp10a A G 17: 7,593,891 (GRCm39) E72G possibly damaging Het
Tmem232 A G 17: 65,757,369 (GRCm39) S275P probably damaging Het
Ugt1a5 T C 1: 88,094,540 (GRCm39) F256S probably damaging Het
Ulbp3 A G 10: 3,075,699 (GRCm39) noncoding transcript Het
Vmn2r5 A G 3: 64,398,747 (GRCm39) V744A probably benign Het
Vmn2r53 A T 7: 12,332,349 (GRCm39) S433R probably benign Het
Vmn2r9 A T 5: 108,995,997 (GRCm39) I217N probably damaging Het
Wdr83 G T 8: 85,807,216 (GRCm39) A10E probably benign Het
Other mutations in Gcnt7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01488:Gcnt7 APN 2 172,296,209 (GRCm39) missense probably damaging 1.00
IGL03127:Gcnt7 APN 2 172,296,331 (GRCm39) nonsense probably null
R1781:Gcnt7 UTSW 2 172,296,800 (GRCm39) missense probably benign 0.03
R6468:Gcnt7 UTSW 2 172,295,993 (GRCm39) missense probably damaging 1.00
R6884:Gcnt7 UTSW 2 172,296,125 (GRCm39) missense probably damaging 1.00
R8535:Gcnt7 UTSW 2 172,296,466 (GRCm39) missense possibly damaging 0.95
R8835:Gcnt7 UTSW 2 172,295,957 (GRCm39) missense probably damaging 1.00
R9562:Gcnt7 UTSW 2 172,293,180 (GRCm39) missense probably damaging 0.97
R9565:Gcnt7 UTSW 2 172,293,180 (GRCm39) missense probably damaging 0.97
Z1177:Gcnt7 UTSW 2 172,296,806 (GRCm39) missense possibly damaging 0.69
Posted On 2016-08-02