Incidental Mutation 'IGL03263:Galnt18'
ID414971
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galnt18
Ensembl Gene ENSMUSG00000038296
Gene Namepolypeptide N-acetylgalactosaminyltransferase 18
SynonymsGalntl4, 2900011G21Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03263
Quality Score
Status
Chromosome7
Chromosomal Location111471661-111779977 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 111520114 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 400 (R400Q)
Ref Sequence ENSEMBL: ENSMUSP00000043636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049430] [ENSMUST00000106663]
Predicted Effect probably damaging
Transcript: ENSMUST00000049430
AA Change: R400Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043636
Gene: ENSMUSG00000038296
AA Change: R400Q

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 79 91 N/A INTRINSIC
low complexity region 128 141 N/A INTRINSIC
Pfam:Glycos_transf_2 157 345 1.1e-25 PFAM
RICIN 485 614 8.3e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106663
AA Change: R385Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102274
Gene: ENSMUSG00000038296
AA Change: R385Q

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 79 91 N/A INTRINSIC
low complexity region 128 141 N/A INTRINSIC
Pfam:Glycos_transf_2 157 344 1.4e-23 PFAM
RICIN 470 599 8.3e-6 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T A 5: 138,564,237 I81F probably damaging Het
Acacb C T 5: 114,213,693 H1164Y probably damaging Het
Adamts5 A T 16: 85,869,942 V554E probably damaging Het
Asns G A 6: 7,689,404 R33C probably benign Het
BC051076 T G 5: 87,964,118 noncoding transcript Het
Bcas3 C T 11: 85,822,122 probably benign Het
Bpifb1 A G 2: 154,215,306 M395V probably benign Het
Cdcp1 C A 9: 123,180,087 V509L probably benign Het
Cdhr2 A G 13: 54,718,113 T277A possibly damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Clca4a T A 3: 144,966,431 E250V probably damaging Het
Cplx4 T C 18: 65,967,488 D79G probably benign Het
Dcaf11 A G 14: 55,565,492 D246G probably damaging Het
Dnah2 A T 11: 69,529,381 probably null Het
Dock3 A T 9: 106,930,131 probably benign Het
Fam170a T C 18: 50,280,521 probably benign Het
Fgfr2 T A 7: 130,180,419 M423L probably benign Het
Gabra2 A G 5: 70,973,493 F331L probably damaging Het
Gm884 A G 11: 103,613,699 V2481A possibly damaging Het
H2-M11 A T 17: 36,548,913 Q266L probably damaging Het
Igf2bp1 A T 11: 95,966,673 V502D probably damaging Het
Ik A G 18: 36,748,646 N111S probably damaging Het
Intu T A 3: 40,672,597 Y269* probably null Het
Krt82 T C 15: 101,541,872 Y463C probably benign Het
Lrig1 A G 6: 94,611,647 M507T probably benign Het
Mag T G 7: 30,899,528 probably null Het
Map7 T A 10: 20,245,322 Y121* probably null Het
March6 A G 15: 31,486,362 I349T probably benign Het
Mas1 A G 17: 12,841,564 V324A possibly damaging Het
Nckap1l T C 15: 103,464,405 W259R probably damaging Het
Nhsl1 T A 10: 18,498,079 Y164* probably null Het
Olfr678 T A 7: 105,070,002 H178Q probably damaging Het
Olfr885 A T 9: 38,061,713 Y131F probably damaging Het
Pcdhb2 A G 18: 37,296,006 D344G probably damaging Het
Pclo T C 5: 14,681,810 V3442A unknown Het
Polr3c C T 3: 96,714,251 probably benign Het
Ppp2r2d C T 7: 138,872,922 R11* probably null Het
Ptgfr T A 3: 151,835,863 M3L probably benign Het
Rfx6 A G 10: 51,725,807 S741G probably benign Het
Rif1 T C 2: 52,090,261 V490A probably damaging Het
Samd7 T A 3: 30,762,153 H349Q probably damaging Het
Sh3pxd2a T C 19: 47,314,043 N199S probably damaging Het
Spef2 T A 15: 9,667,219 K794N possibly damaging Het
Spta1 C T 1: 174,213,918 A1316V probably damaging Het
Vwa7 A G 17: 35,021,599 E410G probably benign Het
Washc2 T A 6: 116,238,123 probably benign Het
Wdr72 A C 9: 74,157,429 Y581S probably damaging Het
Zdhhc17 T C 10: 110,961,016 D298G probably damaging Het
Other mutations in Galnt18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00584:Galnt18 APN 7 111471995 missense probably damaging 1.00
IGL03110:Galnt18 APN 7 111548713 missense probably benign 0.01
R0013:Galnt18 UTSW 7 111554457 missense probably damaging 1.00
R0013:Galnt18 UTSW 7 111554457 missense probably damaging 1.00
R0141:Galnt18 UTSW 7 111599031 missense probably damaging 1.00
R0471:Galnt18 UTSW 7 111779299 splice site probably benign
R0494:Galnt18 UTSW 7 111554564 missense probably damaging 1.00
R0546:Galnt18 UTSW 7 111508141 missense probably damaging 1.00
R0682:Galnt18 UTSW 7 111520015 missense probably damaging 1.00
R0938:Galnt18 UTSW 7 111519999 missense possibly damaging 0.85
R1321:Galnt18 UTSW 7 111779432 missense probably benign 0.19
R1457:Galnt18 UTSW 7 111779428 nonsense probably null
R1656:Galnt18 UTSW 7 111616492 splice site probably benign
R2077:Galnt18 UTSW 7 111554602 missense probably damaging 1.00
R2567:Galnt18 UTSW 7 111554616 missense probably damaging 1.00
R3788:Galnt18 UTSW 7 111520115 nonsense probably null
R4835:Galnt18 UTSW 7 111779523 missense probably damaging 0.99
R4962:Galnt18 UTSW 7 111472064 missense probably benign 0.10
R6125:Galnt18 UTSW 7 111485193 missense probably damaging 0.96
R6216:Galnt18 UTSW 7 111513550 missense probably benign 0.39
R7075:Galnt18 UTSW 7 111556388 missense possibly damaging 0.63
Posted On2016-08-02