Incidental Mutation 'IGL01652:Galk2'
ID 102865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galk2
Ensembl Gene ENSMUSG00000027207
Gene Name galactokinase 2
Synonyms 2810017M24Rik, Gk2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01652
Quality Score
Status
Chromosome 2
Chromosomal Location 125701029-125826218 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125738685 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q68FH4
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 noncoding transcript
Transcript: ENSMUST00000140873
Predicted Effect probably benign
Transcript: ENSMUST00000134798
SMART Domains Protein: ENSMUSP00000118930
Gene: ENSMUSG00000027207

DomainStartEndE-ValueType
Pfam:GalKase_gal_bdg 23 81 1.5e-21 PFAM
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: 72,910,526 (GRCm39) V60E probably damaging Het
Ank2 T C 3: 126,726,690 (GRCm39) K868R probably benign Het
Ankrd13a A T 5: 114,929,397 (GRCm39) D158V probably damaging Het
Arhgap12 G T 18: 6,061,853 (GRCm39) N380K possibly damaging Het
Cpn1 A T 19: 43,974,533 (GRCm39) F65L possibly damaging Het
Dlec1 T A 9: 118,972,975 (GRCm39) H1496Q probably benign Het
Dock1 C T 7: 134,379,226 (GRCm39) probably benign Het
Dok1 T C 6: 83,009,543 (GRCm39) N143D probably damaging Het
Fcmr C T 1: 130,806,244 (GRCm39) P363L probably benign Het
Hrh3 G T 2: 179,742,896 (GRCm39) P244Q possibly damaging Het
Icam1 T C 9: 20,930,472 (GRCm39) Y109H probably damaging Het
Nup93 T C 8: 95,023,187 (GRCm39) V132A possibly damaging Het
Or4c113 A T 2: 88,884,913 (GRCm39) Y286N probably damaging Het
Pla2g4f T C 2: 120,132,716 (GRCm39) I707V possibly damaging Het
Rpgrip1 G A 14: 52,382,949 (GRCm39) probably benign Het
Sbf2 A T 7: 110,046,327 (GRCm39) V290E probably damaging Het
Stard3 T G 11: 98,269,559 (GRCm39) probably benign Het
Sufu T C 19: 46,464,059 (GRCm39) Y424H probably damaging Het
Trim35 T G 14: 66,546,250 (GRCm39) V339G probably damaging Het
Vmn1r80 A G 7: 11,927,063 (GRCm39) I58V probably benign Het
Other mutations in Galk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01663:Galk2 APN 2 125,825,099 (GRCm39) missense probably benign
IGL01669:Galk2 APN 2 125,729,807 (GRCm39) missense probably damaging 1.00
IGL01831:Galk2 APN 2 125,817,277 (GRCm39) missense probably benign 0.01
IGL02055:Galk2 APN 2 125,773,324 (GRCm39) missense probably benign 0.01
IGL02298:Galk2 APN 2 125,701,290 (GRCm39) missense probably benign 0.00
IGL03093:Galk2 APN 2 125,771,563 (GRCm39) missense probably damaging 1.00
R0305:Galk2 UTSW 2 125,729,808 (GRCm39) missense probably damaging 1.00
R1713:Galk2 UTSW 2 125,773,210 (GRCm39) missense probably benign 0.00
R1870:Galk2 UTSW 2 125,817,183 (GRCm39) missense probably benign
R2327:Galk2 UTSW 2 125,817,315 (GRCm39) missense probably damaging 1.00
R2354:Galk2 UTSW 2 125,773,193 (GRCm39) missense probably benign 0.06
R3962:Galk2 UTSW 2 125,735,293 (GRCm39) missense probably benign 0.13
R4870:Galk2 UTSW 2 125,771,557 (GRCm39) nonsense probably null
R5034:Galk2 UTSW 2 125,771,495 (GRCm39) missense probably benign 0.00
R5427:Galk2 UTSW 2 125,788,741 (GRCm39) missense probably benign 0.01
R5619:Galk2 UTSW 2 125,817,317 (GRCm39) nonsense probably null
R6145:Galk2 UTSW 2 125,788,762 (GRCm39) missense possibly damaging 0.90
R6173:Galk2 UTSW 2 125,701,137 (GRCm39) start gained probably benign
R6287:Galk2 UTSW 2 125,712,268 (GRCm39) intron probably benign
R7174:Galk2 UTSW 2 125,738,621 (GRCm39) missense probably damaging 1.00
R7453:Galk2 UTSW 2 125,729,781 (GRCm39) missense possibly damaging 0.51
R7480:Galk2 UTSW 2 125,788,845 (GRCm39) missense probably benign
R7519:Galk2 UTSW 2 125,825,172 (GRCm39) missense possibly damaging 0.60
R7815:Galk2 UTSW 2 125,817,321 (GRCm39) missense probably damaging 1.00
R8094:Galk2 UTSW 2 125,773,189 (GRCm39) missense probably damaging 1.00
R8323:Galk2 UTSW 2 125,708,298 (GRCm39) missense probably benign
R8478:Galk2 UTSW 2 125,771,505 (GRCm39) nonsense probably null
R9292:Galk2 UTSW 2 125,817,218 (GRCm39) missense probably damaging 1.00
R9574:Galk2 UTSW 2 125,824,979 (GRCm39) missense probably benign
R9610:Galk2 UTSW 2 125,817,218 (GRCm39) missense probably damaging 1.00
R9611:Galk2 UTSW 2 125,817,218 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21