Incidental Mutation 'IGL01762:Galk1'
ID 153283
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galk1
Ensembl Gene ENSMUSG00000020766
Gene Name galactokinase 1
Synonyms Glk, Glk1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01762
Quality Score
Status
Chromosome 11
Chromosomal Location 115899283-115903545 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115900834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 236 (Y236H)
Ref Sequence ENSEMBL: ENSMUSP00000021114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021107] [ENSMUST00000021114] [ENSMUST00000068981] [ENSMUST00000106458] [ENSMUST00000106460] [ENSMUST00000106461] [ENSMUST00000169928]
AlphaFold Q9R0N0
Predicted Effect probably benign
Transcript: ENSMUST00000021107
SMART Domains Protein: ENSMUSP00000021107
Gene: ENSMUSG00000020758

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PSI 30 74 3.89e-1 SMART
INB 38 457 4.23e-213 SMART
VWA 130 361 8.29e-1 SMART
EGF_like 544 576 3.23e1 SMART
Integrin_B_tail 628 712 1.32e-28 SMART
low complexity region 715 732 N/A INTRINSIC
transmembrane domain 737 756 N/A INTRINSIC
Calx_beta 980 1085 3.13e-35 SMART
FN3 1125 1203 3.15e-8 SMART
FN3 1218 1305 6.29e-8 SMART
low complexity region 1324 1332 N/A INTRINSIC
FN3 1508 1589 1.79e-12 SMART
FN3 1621 1705 1.7e-13 SMART
low complexity region 1738 1751 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000021114
AA Change: Y236H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021114
Gene: ENSMUSG00000020766
AA Change: Y236H

DomainStartEndE-ValueType
Pfam:GalKase_gal_bdg 18 67 2.6e-24 PFAM
Pfam:GHMP_kinases_N 126 194 7.3e-14 PFAM
Pfam:GHMP_kinases_C 289 374 1.6e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000068981
SMART Domains Protein: ENSMUSP00000070811
Gene: ENSMUSG00000020758

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PSI 30 74 3.89e-1 SMART
INB 38 457 4.23e-213 SMART
VWA 130 361 8.29e-1 SMART
EGF_like 544 576 3.23e1 SMART
Integrin_B_tail 628 713 7.06e-29 SMART
low complexity region 716 733 N/A INTRINSIC
transmembrane domain 738 757 N/A INTRINSIC
Calx_beta 981 1086 3.13e-35 SMART
FN3 1129 1207 3.15e-8 SMART
FN3 1222 1309 6.29e-8 SMART
low complexity region 1328 1336 N/A INTRINSIC
FN3 1459 1540 1.79e-12 SMART
FN3 1572 1656 1.7e-13 SMART
low complexity region 1689 1702 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106458
SMART Domains Protein: ENSMUSP00000102066
Gene: ENSMUSG00000020758

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PSI 30 74 3.89e-1 SMART
INB 38 457 4.23e-213 SMART
VWA 130 361 8.29e-1 SMART
EGF_like 544 576 3.23e1 SMART
Integrin_B_tail 628 713 7.06e-29 SMART
low complexity region 716 733 N/A INTRINSIC
transmembrane domain 738 757 N/A INTRINSIC
Calx_beta 981 1086 3.13e-35 SMART
FN3 1129 1207 3.15e-8 SMART
FN3 1222 1309 6.29e-8 SMART
low complexity region 1328 1336 N/A INTRINSIC
low complexity region 1413 1425 N/A INTRINSIC
FN3 1524 1605 1.79e-12 SMART
FN3 1637 1721 1.7e-13 SMART
low complexity region 1754 1767 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106460
SMART Domains Protein: ENSMUSP00000102068
Gene: ENSMUSG00000020758

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PSI 30 74 3.89e-1 SMART
INB 38 457 4.23e-213 SMART
VWA 130 361 8.29e-1 SMART
EGF_like 544 576 3.23e1 SMART
Integrin_B_tail 628 713 7.06e-29 SMART
low complexity region 716 733 N/A INTRINSIC
transmembrane domain 738 757 N/A INTRINSIC
Calx_beta 981 1086 3.13e-35 SMART
FN3 1129 1207 3.15e-8 SMART
FN3 1222 1309 6.29e-8 SMART
low complexity region 1328 1336 N/A INTRINSIC
FN3 1512 1593 1.79e-12 SMART
FN3 1625 1709 1.7e-13 SMART
low complexity region 1742 1755 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106461
SMART Domains Protein: ENSMUSP00000102069
Gene: ENSMUSG00000020758

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PSI 30 74 3.89e-1 SMART
INB 38 457 4.23e-213 SMART
VWA 130 361 8.29e-1 SMART
EGF_like 544 576 3.23e1 SMART
Integrin_B_tail 628 713 7.06e-29 SMART
low complexity region 716 733 N/A INTRINSIC
transmembrane domain 738 757 N/A INTRINSIC
Calx_beta 981 1086 3.13e-35 SMART
FN3 1129 1207 3.15e-8 SMART
FN3 1222 1309 6.29e-8 SMART
low complexity region 1328 1336 N/A INTRINSIC
low complexity region 1413 1425 N/A INTRINSIC
FN3 1524 1605 1.79e-12 SMART
FN3 1637 1721 1.7e-13 SMART
low complexity region 1754 1767 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169928
SMART Domains Protein: ENSMUSP00000127604
Gene: ENSMUSG00000020758

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PSI 30 74 3.89e-1 SMART
INB 38 457 4.23e-213 SMART
VWA 130 361 8.29e-1 SMART
EGF_like 544 576 3.23e1 SMART
Integrin_B_tail 628 712 1.32e-28 SMART
low complexity region 715 732 N/A INTRINSIC
transmembrane domain 737 756 N/A INTRINSIC
Calx_beta 980 1085 3.13e-35 SMART
FN3 1125 1203 3.15e-8 SMART
FN3 1218 1305 6.29e-8 SMART
low complexity region 1324 1332 N/A INTRINSIC
FN3 1508 1589 1.79e-12 SMART
FN3 1621 1705 1.7e-13 SMART
low complexity region 1738 1751 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.] Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are unable to metabolize galactose, display tissue accumulation of galactose and galactitol, but do not form cataracts even when fed a high galactose diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik T A 10: 43,050,847 (GRCm39) L47* probably null Het
Abca13 A T 11: 9,265,423 (GRCm39) T3033S probably benign Het
Atp1a2 C A 1: 172,112,480 (GRCm39) V503L possibly damaging Het
Cacna1e T A 1: 154,347,119 (GRCm39) D770V possibly damaging Het
Camkk1 A G 11: 72,921,627 (GRCm39) probably null Het
Cd34 T A 1: 194,621,341 (GRCm39) M23K probably benign Het
Cndp1 T A 18: 84,640,411 (GRCm39) I265F probably damaging Het
Cux2 A G 5: 122,011,208 (GRCm39) I574T probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gbp11 T C 5: 105,475,473 (GRCm39) I292V probably benign Het
Gprc5c A G 11: 114,754,850 (GRCm39) I176V probably benign Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Myh6 T C 14: 55,199,538 (GRCm39) K258E probably benign Het
Niban1 T C 1: 151,512,242 (GRCm39) V48A probably damaging Het
Nlrp9c T A 7: 26,084,850 (GRCm39) D243V probably damaging Het
Nobox T G 6: 43,280,927 (GRCm39) K516Q probably damaging Het
Nudcd3 A G 11: 6,100,560 (GRCm39) S195P probably damaging Het
Pde10a T C 17: 9,161,750 (GRCm39) I477T possibly damaging Het
Pgbd5 C T 8: 125,097,349 (GRCm39) A394T probably damaging Het
Piezo1 G A 8: 123,214,668 (GRCm39) R1553* probably null Het
Prkd1 T C 12: 50,434,013 (GRCm39) I577V probably benign Het
Prss34 T C 17: 25,518,786 (GRCm39) I256T probably benign Het
Ptprg A G 14: 12,037,386 (GRCm38) T189A probably benign Het
Ptprr C T 10: 116,072,638 (GRCm39) T200I probably damaging Het
Samd8 C T 14: 21,830,168 (GRCm39) P198L probably damaging Het
Sema3c T C 5: 17,899,849 (GRCm39) L447P possibly damaging Het
Slc22a23 A T 13: 34,387,984 (GRCm39) F371I possibly damaging Het
Slc2a2 A G 3: 28,771,621 (GRCm39) R184G probably damaging Het
Slitrk6 T A 14: 110,989,056 (GRCm39) D217V probably damaging Het
Tlr2 A G 3: 83,744,301 (GRCm39) V594A probably benign Het
Vmn2r109 A G 17: 20,774,654 (GRCm39) F234L probably benign Het
Vmn2r12 A C 5: 109,234,430 (GRCm39) L594R probably damaging Het
Vmn2r124 A G 17: 18,283,434 (GRCm39) Q376R possibly damaging Het
Vmn2r7 T C 3: 64,598,856 (GRCm39) D567G probably benign Het
Other mutations in Galk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03122:Galk1 APN 11 115,901,065 (GRCm39) critical splice donor site probably null
R1926:Galk1 UTSW 11 115,901,073 (GRCm39) missense probably damaging 1.00
R7973:Galk1 UTSW 11 115,903,435 (GRCm39) missense possibly damaging 0.73
R8749:Galk1 UTSW 11 115,899,762 (GRCm39) missense probably damaging 1.00
R9434:Galk1 UTSW 11 115,903,494 (GRCm39) nonsense probably null
Posted On 2014-02-04