Incidental Mutation 'IGL01663:Galk2'
ID103241
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 #IGL01663
Quality Score
Status
Chromosome2
Chromosomal Location125859109-125984299 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 125983179 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 432 (N432D)
Ref Sequence ENSEMBL: ENSMUSP00000092186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028636] [ENSMUST00000094604] [ENSMUST00000110446] [ENSMUST00000110448] [ENSMUST00000178118]
Predicted Effect probably benign
Transcript: ENSMUST00000028636
AA Change: N421D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207
AA Change: N421D

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: N432D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092186
Gene: ENSMUSG00000027207
AA Change: N432D

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 probably benign
Transcript: ENSMUST00000110446
SMART Domains Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209

DomainStartEndE-ValueType
low complexity region 73 85 N/A INTRINSIC
Pfam:FWWh 136 293 7.6e-54 PFAM
coiled coil region 427 478 N/A INTRINSIC
low complexity region 500 523 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110448
SMART Domains Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209

DomainStartEndE-ValueType
low complexity region 73 85 N/A INTRINSIC
Pfam:FWWh 136 293 3.8e-54 PFAM
coiled coil region 427 478 N/A INTRINSIC
low complexity region 500 523 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178118
SMART Domains Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209

DomainStartEndE-ValueType
low complexity region 73 85 N/A INTRINSIC
Pfam:FWWh 140 293 7.2e-50 PFAM
coiled coil region 427 478 N/A INTRINSIC
low complexity region 500 523 N/A INTRINSIC
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,277,802 I1085V possibly damaging Het
Adamts16 T C 13: 70,793,141 T376A probably benign Het
Aifm3 T A 16: 17,502,786 probably null Het
Ankrd16 A G 2: 11,778,662 E25G probably damaging Het
Ano6 T A 15: 95,967,614 probably null Het
Cdh18 T C 15: 23,445,991 I509T possibly damaging Het
Cdon A G 9: 35,483,214 T919A possibly damaging Het
Clca3a2 G A 3: 144,817,155 P148L probably damaging Het
Dnph1 G T 17: 46,498,482 R74L probably benign Het
Epha6 C T 16: 59,775,644 A895T probably damaging Het
Exoc3l4 T A 12: 111,429,411 probably benign Het
Fbll1 A G 11: 35,797,821 I205T probably damaging Het
Frem2 T A 3: 53,517,013 H3001L probably damaging Het
Gm7535 A C 17: 17,911,357 probably benign Het
Il10 A G 1: 131,021,414 E104G probably benign Het
Il1a T C 2: 129,304,717 K152R probably benign Het
Kdm1b T A 13: 47,073,737 N568K probably damaging Het
Kmt2c A C 5: 25,310,670 L2725R probably damaging Het
Krba1 G T 6: 48,411,754 L527F probably damaging Het
Lrp2 A G 2: 69,428,706 S4547P probably benign Het
Nin G T 12: 70,043,665 A992E possibly damaging Het
Olfr510 T A 7: 108,667,891 H158Q probably benign Het
Olfr740 G A 14: 50,453,150 V33M probably benign Het
Pcdhb1 A G 18: 37,267,133 I712M possibly damaging Het
Prmt2 C T 10: 76,217,309 probably null Het
Rbm20 T G 19: 53,840,995 V608G probably damaging Het
Smarcc2 C T 10: 128,488,977 probably benign Het
Speer3 A T 5: 13,793,222 R48* probably null Het
Tlr1 A T 5: 64,925,073 N720K possibly damaging Het
Tnfrsf21 A T 17: 43,087,811 M603L probably benign Het
Ttc3 T A 16: 94,409,731 probably null Het
Usp4 C A 9: 108,365,880 A249E possibly damaging Het
Wdr20 T A 12: 110,793,514 V278E probably damaging Het
Other mutations in Galk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01652:Galk2 APN 2 125896765 missense probably benign 0.29
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