Incidental Mutation 'IGL01652:Galk2'
ID102865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galk2
Ensembl Gene ENSMUSG00000027207
Gene Namegalactokinase 2
Synonyms2810017M24Rik, Gk2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01652
Quality Score
Status
Chromosome2
Chromosomal Location125859109-125984299 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 125896765 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 171 (T171A)
Ref Sequence ENSEMBL: ENSMUSP00000120728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028636] [ENSMUST00000094604] [ENSMUST00000125084] [ENSMUST00000131643] [ENSMUST00000134337] [ENSMUST00000134798]
Predicted Effect probably benign
Transcript: ENSMUST00000028636
AA Change: T149A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207
AA Change: T149A

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: ENSMUST00000094604
AA Change: T160A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000092186
Gene: ENSMUSG00000027207
AA Change: T160A

DomainStartEndE-ValueType
Pfam:GalKase_gal_bdg 24 73 3.2e-25 PFAM
Pfam:GHMP_kinases_N 131 198 4.8e-15 PFAM
Pfam:GHMP_kinases_C 344 430 3.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000110454
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 probably benign
Transcript: ENSMUST00000131643
Predicted Effect probably benign
Transcript: ENSMUST00000134337
AA Change: T171A

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000120728
Gene: ENSMUSG00000027207
AA Change: T171A

DomainStartEndE-ValueType
Pfam:GalKase_gal_bdg 34 85 4.9e-26 PFAM
Pfam:GHMP_kinases_N 142 182 1.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134798
SMART Domains Protein: ENSMUSP00000118930
Gene: ENSMUSG00000027207

DomainStartEndE-ValueType
Pfam:GalKase_gal_bdg 23 81 1.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140873
Coding Region Coverage
Validation Efficiency
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk A T 17: 72,603,531 V60E probably damaging Het
Ank2 T C 3: 126,933,041 K868R probably benign Het
Ankrd13a A T 5: 114,791,336 D158V probably damaging Het
Arhgap12 G T 18: 6,061,853 N380K possibly damaging Het
Cpn1 A T 19: 43,986,094 F65L possibly damaging Het
Dlec1 T A 9: 119,143,907 H1496Q probably benign Het
Dock1 C T 7: 134,777,497 probably benign Het
Dok1 T C 6: 83,032,562 N143D probably damaging Het
Fcmr C T 1: 130,878,507 P363L probably benign Het
Hrh3 G T 2: 180,101,103 P244Q possibly damaging Het
Icam1 T C 9: 21,019,176 Y109H probably damaging Het
Nup93 T C 8: 94,296,559 V132A possibly damaging Het
Olfr1218 A T 2: 89,054,569 Y286N probably damaging Het
Pla2g4f T C 2: 120,302,235 I707V possibly damaging Het
Rpgrip1 G A 14: 52,145,492 probably benign Het
Sbf2 A T 7: 110,447,120 V290E probably damaging Het
Stard3 T G 11: 98,378,733 probably benign Het
Sufu T C 19: 46,475,620 Y424H probably damaging Het
Trim35 T G 14: 66,308,801 V339G probably damaging Het
Vmn1r80 A G 7: 12,193,136 I58V probably benign Het
Other mutations in Galk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6173:Galk2 UTSW 2 125859217 start gained probably benign
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
Posted On2014-01-21