Incidental Mutation 'R0471:Galnt18'
ID 46757
Institutional Source Beutler Lab
Gene Symbol Galnt18
Ensembl Gene ENSMUSG00000038296
Gene Name polypeptide N-acetylgalactosaminyltransferase 18
Synonyms Galntl4, 2900011G21Rik
MMRRC Submission 038671-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0471 (G1)
Quality Score 179
Status Validated
Chromosome 7
Chromosomal Location 111070868-111379184 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 111378506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049430] [ENSMUST00000106663]
AlphaFold Q8K1B9
Predicted Effect probably benign
Transcript: ENSMUST00000049430
SMART Domains Protein: ENSMUSP00000043636
Gene: ENSMUSG00000038296

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 benign
Transcript: ENSMUST00000106663
SMART Domains Protein: ENSMUSP00000102274
Gene: ENSMUSG00000038296

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,075,891 (GRCm39) probably null Het
Adam33 C A 2: 130,896,399 (GRCm39) G437C probably damaging Het
Aldh1a1 T A 19: 20,579,377 (GRCm39) M1K probably null Het
Amotl2 C A 9: 102,597,718 (GRCm39) P126Q probably damaging Het
Ap1g1 T A 8: 110,580,275 (GRCm39) M576K possibly damaging Het
Apob C A 12: 8,040,406 (GRCm39) A581E probably damaging Het
Asb7 A T 7: 66,328,907 (GRCm39) D44E probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
C9orf72 G A 4: 35,193,257 (GRCm39) T232I probably benign Het
Ccdc65 A T 15: 98,615,348 (GRCm39) H118L probably benign Het
Cdc25b A G 2: 131,039,204 (GRCm39) E523G probably damaging Het
Cdk11b A G 4: 155,731,999 (GRCm39) probably benign Het
Cilk1 G T 9: 78,062,799 (GRCm39) probably null Het
Clec1b A G 6: 129,378,570 (GRCm39) probably benign Het
Cntrl A G 2: 35,017,392 (GRCm39) T400A probably benign Het
Cpne4 T G 9: 104,899,481 (GRCm39) probably null Het
Cyp2j6 T A 4: 96,419,985 (GRCm39) R249* probably null Het
Dock2 T C 11: 34,579,380 (GRCm39) I678V probably benign Het
Dqx1 C T 6: 83,036,407 (GRCm39) probably benign Het
Dsp A T 13: 38,377,326 (GRCm39) K1704* probably null Het
Eif2b2 T C 12: 85,266,957 (GRCm39) F121S probably benign Het
Ephx4 T C 5: 107,561,379 (GRCm39) V69A possibly damaging Het
Epn2 T C 11: 61,426,134 (GRCm39) Q281R probably damaging Het
Fgf3 A C 7: 144,396,547 (GRCm39) D187A probably damaging Het
Gm4871 C T 5: 144,968,402 (GRCm39) probably benign Het
Inpp4b T C 8: 82,768,528 (GRCm39) I679T possibly damaging Het
Itpkb A G 1: 180,245,820 (GRCm39) E779G probably damaging Het
Itsn1 G A 16: 91,696,477 (GRCm39) V27M probably damaging Het
Lrp2 C A 2: 69,355,578 (GRCm39) R422L probably damaging Het
Mmp25 G A 17: 23,858,858 (GRCm39) A231V possibly damaging Het
Mprip T C 11: 59,650,561 (GRCm39) S1422P probably damaging Het
Mro A T 18: 74,009,860 (GRCm39) Q176L probably benign Het
Mrpl12 A G 11: 120,379,229 (GRCm39) E192G probably damaging Het
Myo5b A T 18: 74,862,025 (GRCm39) probably benign Het
Ncam2 G T 16: 80,997,772 (GRCm39) probably benign Het
Nip7 T C 8: 107,783,949 (GRCm39) L63P probably damaging Het
Nsd3 T C 8: 26,138,450 (GRCm39) probably benign Het
Nup98 A T 7: 101,788,004 (GRCm39) V1022D probably benign Het
Or2y1e T A 11: 49,218,744 (GRCm39) C169S probably damaging Het
Or5d43 A G 2: 88,104,559 (GRCm39) V278A possibly damaging Het
Or5h22 A G 16: 58,894,633 (GRCm39) I270T probably benign Het
Or7g28 A T 9: 19,272,177 (GRCm39) L158* probably null Het
P4ha2 T C 11: 54,008,434 (GRCm39) Y214H possibly damaging Het
Pacrg A T 17: 10,795,407 (GRCm39) F184L possibly damaging Het
Parpbp T A 10: 87,929,569 (GRCm39) R426S probably damaging Het
Pcdhb5 T A 18: 37,454,359 (GRCm39) Y246* probably null Het
Pik3cg T A 12: 32,244,770 (GRCm39) T895S probably damaging Het
Prkch T C 12: 73,738,426 (GRCm39) Y178H probably benign Het
Rusc2 G T 4: 43,425,486 (GRCm39) R1197L probably damaging Het
Svep1 T C 4: 58,054,700 (GRCm39) E3296G possibly damaging Het
Svs3a A G 2: 164,131,801 (GRCm39) K123R probably benign Het
Sycp2l A G 13: 41,304,006 (GRCm39) probably null Het
Syne3 T C 12: 104,909,685 (GRCm39) H717R probably benign Het
Tiprl A G 1: 165,050,092 (GRCm39) probably null Het
Trim24 T G 6: 37,892,130 (GRCm39) V151G possibly damaging Het
Trim33 T C 3: 103,234,217 (GRCm39) V56A possibly damaging Het
Trim67 C A 8: 125,521,397 (GRCm39) T253K probably benign Het
Trip12 T C 1: 84,703,928 (GRCm39) E698G probably damaging Het
Tspan14 T C 14: 40,637,353 (GRCm39) D145G probably damaging Het
Ushbp1 G A 8: 71,847,021 (GRCm39) Q204* probably null Het
Vmn1r71 G C 7: 10,482,019 (GRCm39) S223C possibly damaging Het
Vmn2r75 G T 7: 85,814,721 (GRCm39) N257K probably benign Het
Washc4 T C 10: 83,394,598 (GRCm39) probably benign Het
Zc3h7b G A 15: 81,666,169 (GRCm39) D560N probably damaging Het
Zscan21 T C 5: 138,123,402 (GRCm39) V27A probably benign Het
Zzef1 A C 11: 72,813,937 (GRCm39) E2842A 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
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
R2077:Galnt18 UTSW 7 111,153,809 (GRCm39) missense probably damaging 1.00
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'- GGAAAGGAGCACCCTGGAATCATAC -3'
(R):5'- TGATCCTAAGCGGCATGACCAAC -3'

Sequencing Primer
(F):5'- cacacacacacacacagac -3'
(R):5'- GACCAACATCATATGCCTGCTG -3'
Posted On 2013-06-11