Incidental Mutation 'R6173:Galk2'
ID489119
Institutional Source Beutler Lab
Gene Symbol Galk2
Ensembl Gene ENSMUSG00000027207
Gene Namegalactokinase 2
Synonyms2810017M24Rik, Gk2
MMRRC Submission 044316-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6173 (G1)
Quality Score209.009
Status Not validated
Chromosome2
Chromosomal Location125859109-125984299 bp(+) (GRCm38)
Type of Mutationstart gained
DNA Base Change (assembly) A to G at 125859217 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028635] [ENSMUST00000028636] [ENSMUST00000110462] [ENSMUST00000110463] [ENSMUST00000125084]
Predicted Effect probably benign
Transcript: ENSMUST00000028635
SMART Domains Protein: ENSMUSP00000028635
Gene: ENSMUSG00000027206

DomainStartEndE-ValueType
low complexity region 1 27 N/A INTRINSIC
PAM 169 343 1.08e-64 SMART
PINT 345 427 4.24e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000028636
SMART Domains Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207

DomainStartEndE-ValueType
Pfam:GalKase_gal_bdg 13 62 3.8e-26 PFAM
Pfam:GHMP_kinases_N 120 187 1e-15 PFAM
Pfam:GHMP_kinases_C 333 419 6.9e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110462
SMART Domains Protein: ENSMUSP00000106089
Gene: ENSMUSG00000027206

DomainStartEndE-ValueType
low complexity region 1 27 N/A INTRINSIC
PAM 140 302 1.59e-30 SMART
PINT 304 386 4.24e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110463
SMART Domains Protein: ENSMUSP00000106090
Gene: ENSMUSG00000027206

DomainStartEndE-ValueType
low complexity region 1 27 N/A INTRINSIC
PAM 176 350 1.08e-64 SMART
PINT 352 434 4.24e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125084
SMART Domains Protein: ENSMUSP00000119902
Gene: ENSMUSG00000027207

DomainStartEndE-ValueType
Pfam:GalKase_gal_bdg 1 50 7.7e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152683
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 96% (52/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410141K09Rik T A 13: 66,431,549 T292S probably benign Het
Ank2 T C 3: 127,052,746 D219G probably damaging Het
Arap2 A T 5: 62,749,622 I18N probably damaging Het
Baz1b T C 5: 135,242,507 S1315P probably benign Het
Bbs7 A T 3: 36,592,374 C432* probably null Het
Bend3 A G 10: 43,509,868 T86A probably benign Het
Cadm2 C T 16: 66,882,841 V35I probably benign Het
Ch25h A G 19: 34,474,496 S211P probably damaging Het
Chd5 A T 4: 152,379,391 H1476L probably damaging Het
Chia1 T C 3: 106,129,022 probably null Het
Clpx C A 9: 65,301,879 S92* probably null Het
Dazl A T 17: 50,287,571 M152K probably benign Het
Dnah17 A G 11: 118,039,946 S3748P probably damaging Het
Dock2 T C 11: 34,262,388 K1251R probably null Het
Esr1 T C 10: 4,746,760 V203A probably damaging Het
F830045P16Rik A G 2: 129,463,668 I262T probably damaging Het
Foxp1 G A 6: 99,015,510 Q41* probably null Het
Foxp1 C A 6: 99,015,514 probably null Het
Fshb T C 2: 107,057,293 E127G possibly damaging Het
Gid4 A G 11: 60,432,415 D111G probably damaging Het
Gm14412 G A 2: 177,314,537 P522S probably damaging Het
K230010J24Rik A G 15: 76,045,388 E290G probably damaging Het
Mfap4 A G 11: 61,485,419 probably null Het
Mfsd2a A G 4: 122,951,246 V224A probably benign Het
Mocos A T 18: 24,676,582 Y414F probably benign Het
Mrto4 T C 4: 139,350,444 I27V probably benign Het
Muc4 A G 16: 32,736,140 probably benign Het
Mug1 T A 6: 121,863,793 I534N probably damaging Het
Mup20 A T 4: 62,054,030 L7Q unknown Het
Nlrp2 T C 7: 5,337,809 E2G probably damaging Het
Olfr1346 C T 7: 6,474,836 A242V probably damaging Het
Olfr1388 T C 11: 49,444,472 V207A probably benign Het
Olfr360 A G 2: 37,069,079 Y258C possibly damaging Het
Olfr738 A G 14: 50,414,197 I218V possibly damaging Het
Parn T C 16: 13,651,811 T209A possibly damaging Het
Psip1 T A 4: 83,473,049 probably null Het
Ptprc A C 1: 138,067,890 C1157G probably damaging Het
Rad17 A C 13: 100,622,881 V546G probably benign Het
Rc3h2 GCC GCCC 2: 37,414,733 probably null Het
Safb A G 17: 56,597,798 E124G probably damaging Het
Sart3 C T 5: 113,743,206 A938T probably benign Het
Skint5 T C 4: 113,535,710 T1242A unknown Het
Slc13a5 C T 11: 72,253,197 E352K probably benign Het
Sohlh2 G T 3: 55,196,998 V263F probably benign Het
Strn A G 17: 78,700,869 Y107H probably damaging Het
Tbx15 G T 3: 99,253,887 E3* probably null Het
Tespa1 A G 10: 130,347,303 D39G probably benign Het
Trp73 A T 4: 154,104,341 D54E probably damaging Het
Ttll5 A T 12: 85,933,377 S912C probably damaging Het
Utp14b A T 1: 78,665,837 D484V probably benign Het
Utp14b A C 1: 78,665,840 N485T probably benign Het
Vmn2r29 T C 7: 7,231,370 E839G probably benign Het
Vmn2r6 G C 3: 64,559,755 P108A probably damaging Het
Vps8 T G 16: 21,495,932 probably null Het
Zfp36l1 A T 12: 80,109,546 probably null Het
Zp3r A T 1: 130,591,568 probably null Het
Other mutations in Galk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01652:Galk2 APN 2 125896765 missense probably benign 0.29
IGL01663:Galk2 APN 2 125983179 missense probably benign
IGL01669:Galk2 APN 2 125887887 missense probably damaging 1.00
IGL01831:Galk2 APN 2 125975357 missense probably benign 0.01
IGL02055:Galk2 APN 2 125931404 missense probably benign 0.01
IGL02298:Galk2 APN 2 125859370 missense probably benign 0.00
IGL03093:Galk2 APN 2 125929643 missense probably damaging 1.00
R0305:Galk2 UTSW 2 125887888 missense probably damaging 1.00
R1713:Galk2 UTSW 2 125931290 missense probably benign 0.00
R1870:Galk2 UTSW 2 125975263 missense probably benign
R2327:Galk2 UTSW 2 125975395 missense probably damaging 1.00
R2354:Galk2 UTSW 2 125931273 missense probably benign 0.06
R3962:Galk2 UTSW 2 125893373 missense probably benign 0.13
R4870:Galk2 UTSW 2 125929637 nonsense probably null
R5034:Galk2 UTSW 2 125929575 missense probably benign 0.00
R5427:Galk2 UTSW 2 125946821 missense probably benign 0.01
R5619:Galk2 UTSW 2 125975397 nonsense probably null
R6145:Galk2 UTSW 2 125946842 missense possibly damaging 0.90
R6287:Galk2 UTSW 2 125870348 intron probably benign
R7174:Galk2 UTSW 2 125896701 missense probably damaging 1.00
R7453:Galk2 UTSW 2 125887861 missense possibly damaging 0.51
R7480:Galk2 UTSW 2 125946925 missense probably benign
R7519:Galk2 UTSW 2 125983252 missense possibly damaging 0.60
R7815:Galk2 UTSW 2 125975401 missense probably damaging 1.00
R8094:Galk2 UTSW 2 125931269 missense probably damaging 1.00
R8323:Galk2 UTSW 2 125866378 missense probably benign
Predicted Primers
Posted On2017-10-10