Incidental Mutation 'R7075:Galnt18'
ID549160
Institutional Source Beutler Lab
Gene Symbol Galnt18
Ensembl Gene ENSMUSG00000038296
Gene Namepolypeptide N-acetylgalactosaminyltransferase 18
SynonymsGalntl4, 2900011G21Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7075 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location111471661-111779977 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 111556388 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 246 (V246E)
Ref Sequence ENSEMBL: ENSMUSP00000043636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049430] [ENSMUST00000106663]
Predicted Effect possibly damaging
Transcript: ENSMUST00000049430
AA Change: V246E

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000043636
Gene: ENSMUSG00000038296
AA Change: V246E

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 possibly damaging
Transcript: ENSMUST00000106663
AA Change: V246E

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102274
Gene: ENSMUSG00000038296
AA Change: V246E

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 95% (60/63)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acyp1 A T 12: 85,279,008 H72Q unknown Het
Afmid T A 11: 117,835,705 D218E probably benign Het
Ankhd1 T C 18: 36,559,989 V1A Het
Atf7ip T C 6: 136,596,515 probably null Het
BC024139 C T 15: 76,124,399 V326I probably benign Het
Bfsp1 T A 2: 143,848,965 Q159L probably damaging Het
Cct2 A T 10: 117,061,465 W125R unknown Het
Cnksr3 G T 10: 7,152,931 T147K probably benign Het
Colq C G 14: 31,552,909 G101R probably damaging Het
Dlg5 G T 14: 24,177,797 T352K possibly damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 73,640,611 probably benign Het
Ebna1bp2 T C 4: 118,622,102 V119A probably benign Het
Eif2ak4 C T 2: 118,420,810 Q318* probably null Het
Eif2b1 G A 5: 124,571,251 T286M probably damaging Het
Fam53b G T 7: 132,759,623 D225E probably damaging Het
Fh1 A G 1: 175,607,855 I354T probably benign Het
Fnbp1 T C 2: 31,058,914 H206R probably benign Het
Gabrg3 A T 7: 57,323,696 D74E probably damaging Het
Glt6d1 T C 2: 25,795,280 R44G probably benign Het
Gm17087 T C 17: 8,566,803 M23V probably benign Het
Gpr160 A T 3: 30,896,777 I333L possibly damaging Het
Hars T C 18: 36,772,355 N142S possibly damaging Het
Hmgcll1 T C 9: 76,056,552 V97A possibly damaging Het
Itih4 T G 14: 30,892,603 V474G probably damaging Het
Keap1 C T 9: 21,231,256 V568I probably benign Het
Kifc5b A G 17: 26,925,898 M633V probably benign Het
Lsm4 A G 8: 70,677,785 E18G probably damaging Het
Meox1 T A 11: 101,893,743 Q88L probably damaging Het
Mettl25 T C 10: 105,829,924 N147S possibly damaging Het
Mphosph9 A C 5: 124,320,859 W83G probably damaging Het
Olfr1006 T A 2: 85,674,824 Y109F Het
Olfr1098 T G 2: 86,922,646 K295N possibly damaging Het
Olfr344 T C 2: 36,569,180 I194T probably benign Het
Olfr862 T A 9: 19,884,063 M81L probably benign Het
Olfr878 T C 9: 37,919,074 V139A probably benign Het
Olfr992 T C 2: 85,400,200 D111G probably damaging Het
Otogl G T 10: 107,778,929 T1954K probably benign Het
Padi2 T C 4: 140,933,217 V336A probably damaging Het
Phf21a C T 2: 92,360,379 Q675* probably null Het
Ppip5k1 T C 2: 121,321,750 E1092G probably damaging Het
Psg21 T C 7: 18,654,861 N102S probably damaging Het
Ralgapa1 C A 12: 55,820,723 Q15H possibly damaging Het
Rbm26 A T 14: 105,160,607 D26E unknown Het
Rbp4 T C 19: 38,124,061 Y152C probably damaging Het
Recql4 A G 15: 76,706,424 V646A possibly damaging Het
Rnf220 A T 4: 117,285,882 M63K probably benign Het
Selenok T C 14: 29,970,067 S21P probably damaging Het
Senp1 A G 15: 98,058,326 V404A probably benign Het
Sh3yl1 A G 12: 30,940,166 probably null Het
Snx32 A G 19: 5,496,990 L275P probably damaging Het
Ssfa2 T A 2: 79,635,660 S41T probably damaging Het
Stat5a T C 11: 100,879,693 V519A possibly damaging Het
Tbc1d10b A T 7: 127,203,238 V388E possibly damaging Het
Tdrd6 A G 17: 43,625,174 V1661A probably benign Het
Tmem63a T A 1: 180,961,149 F350L probably damaging Het
Trio A T 15: 27,898,000 I401K unknown Het
Ttn T C 2: 76,716,829 E32291G probably damaging Het
Tubgcp5 G T 7: 55,829,407 V1002L probably benign Het
Vav3 C T 3: 109,525,924 T410I possibly damaging Het
Vmn1r1 A T 1: 182,158,032 F23I probably benign Het
Vmn2r84 T A 10: 130,391,072 Q299L probably damaging Het
Vmn2r85 T A 10: 130,422,688 E499D probably benign 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
IGL03263:Galnt18 APN 7 111520114 missense probably damaging 1.00
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
R7831:Galnt18 UTSW 7 111556458 missense possibly damaging 0.79
R7914:Galnt18 UTSW 7 111556458 missense possibly damaging 0.79
RF017:Galnt18 UTSW 7 111599014 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTTGCCCTACATGAGACC -3'
(R):5'- ACTCGGCTAAGAGGCATTTTC -3'

Sequencing Primer
(F):5'- GACCCAGTACTATCTCAAGGTTTGG -3'
(R):5'- GAGGCATTTTCTCACCAACAGAGG -3'
Posted On2019-05-15