Incidental Mutation 'R2077:Galnt18'
ID 229216
Institutional Source Beutler Lab
Gene Symbol Galnt18
Ensembl Gene ENSMUSG00000038296
Gene Name polypeptide N-acetylgalactosaminyltransferase 18
Synonyms Galntl4, 2900011G21Rik
MMRRC Submission 040082-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2077 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 111070868-111379184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 111153809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 272 (R272W)
Ref Sequence ENSEMBL: ENSMUSP00000102274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049430] [ENSMUST00000106663]
AlphaFold Q8K1B9
Predicted Effect probably damaging
Transcript: ENSMUST00000049430
AA Change: R272W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043636
Gene: ENSMUSG00000038296
AA Change: R272W

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: R272W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102274
Gene: ENSMUSG00000038296
AA Change: R272W

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
Meta Mutation Damage Score 0.4414 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T A 4: 144,183,604 (GRCm39) probably benign Het
Abhd16b A C 2: 181,135,209 (GRCm39) D37A probably benign Het
Acp7 T C 7: 28,328,907 (GRCm39) E91G probably damaging Het
Alms1 T A 6: 85,599,291 (GRCm39) N1841K possibly damaging Het
Arhgap25 T A 6: 87,436,990 (GRCm39) D620V probably damaging Het
Caps2 C T 10: 112,035,632 (GRCm39) T371I possibly damaging Het
Ccdc175 A G 12: 72,186,794 (GRCm39) I350T possibly damaging Het
Cdc25c G C 18: 34,871,292 (GRCm39) L275V probably damaging Het
Cdc42bpb A G 12: 111,265,630 (GRCm39) L1434P probably damaging Het
Cdkl3 A T 11: 51,917,666 (GRCm39) E321V probably damaging Het
Clec2d G T 6: 129,160,153 (GRCm39) V56L possibly damaging Het
Cops3 A T 11: 59,715,136 (GRCm39) S301T possibly damaging Het
Crygd T C 1: 65,102,405 (GRCm39) D19G probably damaging Het
Dnah2 T C 11: 69,387,432 (GRCm39) I931M possibly damaging Het
Dst A T 1: 34,250,251 (GRCm39) R4068S probably damaging Het
Fas C T 19: 34,297,953 (GRCm39) probably benign Het
G6pd2 T A 5: 61,967,594 (GRCm39) D456E probably damaging Het
Grb2 C A 11: 115,536,651 (GRCm39) G200W probably damaging Het
Herc4 A G 10: 63,099,832 (GRCm39) N85S probably benign Het
Ighv7-2 T C 12: 113,875,727 (GRCm39) D92G probably damaging Het
Itih3 A G 14: 30,631,792 (GRCm39) V765A possibly damaging Het
Itm2b T C 14: 73,600,560 (GRCm39) N247D probably benign Het
Kcnd3 T C 3: 105,574,315 (GRCm39) V500A probably benign Het
Lrp2 C T 2: 69,338,187 (GRCm39) G1198R probably damaging Het
Ltb4r2 A G 14: 55,999,444 (GRCm39) T22A probably damaging Het
Mdga2 A G 12: 66,702,136 (GRCm39) V355A probably damaging Het
Megf8 T A 7: 25,053,163 (GRCm39) V1778E probably benign Het
Mroh2b G A 15: 4,974,448 (GRCm39) E1143K probably damaging Het
Nbn A T 4: 15,979,389 (GRCm39) Y458F probably damaging Het
Nlrc3 A G 16: 3,781,856 (GRCm39) C534R probably benign Het
Nup155 A G 15: 8,172,510 (GRCm39) E832G probably damaging Het
Or5w11 A G 2: 87,459,173 (GRCm39) Y122C probably damaging Het
Plcl2 A G 17: 50,913,857 (GRCm39) T289A probably benign Het
Ptprs C T 17: 56,741,990 (GRCm39) R7Q probably null Het
Rab3ip A T 10: 116,754,865 (GRCm39) D198E possibly damaging Het
Scaf4 A T 16: 90,049,323 (GRCm39) F255I unknown Het
Senp6 T C 9: 80,033,437 (GRCm39) S475P probably benign Het
Shpk T C 11: 73,094,785 (GRCm39) L67P probably damaging Het
Sik3 T A 9: 46,130,801 (GRCm39) Y1246N probably damaging Het
Slc44a2 A G 9: 21,265,020 (GRCm39) Y686C probably damaging Het
Slc6a19 A G 13: 73,848,685 (GRCm39) V23A probably benign Het
Slit3 A T 11: 35,435,575 (GRCm39) I169F possibly damaging Het
Stxbp5l A G 16: 37,056,637 (GRCm39) V379A possibly damaging Het
Tex2 T C 11: 106,397,690 (GRCm39) probably null Het
Tnpo3 A G 6: 29,586,143 (GRCm39) V149A possibly damaging Het
Vmn1r158 T A 7: 22,489,815 (GRCm39) R131S probably benign Het
Vmn2r24 T A 6: 123,792,358 (GRCm39) C562S probably damaging Het
Wipi1 T C 11: 109,468,490 (GRCm39) N368S probably benign Het
Zbtb41 T C 1: 139,351,831 (GRCm39) S315P probably damaging Het
Other mutations in Galnt18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00584:Galnt18 APN 7 111,071,202 (GRCm39) missense probably damaging 1.00
IGL03110:Galnt18 APN 7 111,147,920 (GRCm39) missense probably benign 0.01
IGL03263:Galnt18 APN 7 111,119,321 (GRCm39) missense probably damaging 1.00
R0013:Galnt18 UTSW 7 111,153,664 (GRCm39) missense probably damaging 1.00
R0013:Galnt18 UTSW 7 111,153,664 (GRCm39) missense probably damaging 1.00
R0141:Galnt18 UTSW 7 111,198,238 (GRCm39) missense probably damaging 1.00
R0471:Galnt18 UTSW 7 111,378,506 (GRCm39) splice site probably benign
R0494:Galnt18 UTSW 7 111,153,771 (GRCm39) missense probably damaging 1.00
R0546:Galnt18 UTSW 7 111,107,348 (GRCm39) missense probably damaging 1.00
R0682:Galnt18 UTSW 7 111,119,222 (GRCm39) missense probably damaging 1.00
R0938:Galnt18 UTSW 7 111,119,206 (GRCm39) missense possibly damaging 0.85
R1321:Galnt18 UTSW 7 111,378,639 (GRCm39) missense probably benign 0.19
R1457:Galnt18 UTSW 7 111,378,635 (GRCm39) nonsense probably null
R1656:Galnt18 UTSW 7 111,215,699 (GRCm39) splice site probably benign
R2567:Galnt18 UTSW 7 111,153,823 (GRCm39) missense probably damaging 1.00
R3788:Galnt18 UTSW 7 111,119,322 (GRCm39) nonsense probably null
R4835:Galnt18 UTSW 7 111,378,730 (GRCm39) missense probably damaging 0.99
R4962:Galnt18 UTSW 7 111,071,271 (GRCm39) missense probably benign 0.10
R6125:Galnt18 UTSW 7 111,084,400 (GRCm39) missense probably damaging 0.96
R6216:Galnt18 UTSW 7 111,112,757 (GRCm39) missense probably benign 0.39
R7075:Galnt18 UTSW 7 111,155,595 (GRCm39) missense possibly damaging 0.63
R7831:Galnt18 UTSW 7 111,155,665 (GRCm39) missense possibly damaging 0.79
R8728:Galnt18 UTSW 7 111,119,243 (GRCm39) missense probably damaging 1.00
R8729:Galnt18 UTSW 7 111,119,198 (GRCm39) missense probably null 0.90
R8888:Galnt18 UTSW 7 111,378,709 (GRCm39) missense possibly damaging 0.84
R8895:Galnt18 UTSW 7 111,378,709 (GRCm39) missense possibly damaging 0.84
R9330:Galnt18 UTSW 7 111,071,271 (GRCm39) missense probably benign 0.10
R9448:Galnt18 UTSW 7 111,153,649 (GRCm39) missense probably damaging 1.00
R9746:Galnt18 UTSW 7 111,071,168 (GRCm39) missense possibly damaging 0.90
RF017:Galnt18 UTSW 7 111,198,221 (GRCm39) missense probably damaging 1.00
Z1177:Galnt18 UTSW 7 111,084,358 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGCCATACCTGATTGGGGC -3'
(R):5'- GGATGTGTTGAAGGAGCCAC -3'

Sequencing Primer
(F):5'- GCTGTGGAGTTCTCTAGCTTCCAC -3'
(R):5'- CAATCTTGAAGTCCTTAGCCTAGGG -3'
Posted On 2014-09-17