Incidental Mutation 'R9434:Galk1'
ID 713183
Institutional Source Beutler Lab
Gene Symbol Galk1
Ensembl Gene ENSMUSG00000020766
Gene Name galactokinase 1
Synonyms Glk, Glk1
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9434 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 115899283-115903545 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 115903494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 4 (W4*)
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 null
Transcript: ENSMUST00000021114
AA Change: W4*
SMART Domains Protein: ENSMUSP00000021114
Gene: ENSMUSG00000020766
AA Change: W4*

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (49/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 A G 8: 41,133,284 (GRCm39) I251V probably benign Het
Adgrv1 T C 13: 81,666,292 (GRCm39) probably benign Het
Adipoq A G 16: 22,965,697 (GRCm39) probably benign Het
Adnp C T 2: 168,026,377 (GRCm39) R306Q probably damaging Het
Akap11 A T 14: 78,747,829 (GRCm39) N1519K Het
Bach1 C G 16: 87,516,603 (GRCm39) S381R probably benign Het
Cdc14a T C 3: 116,217,092 (GRCm39) M15V probably benign Het
Cgn T C 3: 94,672,837 (GRCm39) D947G probably damaging Het
Crhr2 A T 6: 55,069,512 (GRCm39) F381I probably damaging Het
Dmxl1 G T 18: 50,010,788 (GRCm39) A982S probably damaging Het
Efcab3 T C 11: 104,899,863 (GRCm39) V4375A probably benign Het
Epha5 T C 5: 84,479,227 (GRCm39) E259G possibly damaging Het
Erbb4 T C 1: 68,081,773 (GRCm39) D1087G possibly damaging Het
Fcgr2b A T 1: 170,793,385 (GRCm39) S215T probably benign Het
Fsip2 A T 2: 82,816,702 (GRCm39) Y4145F possibly damaging Het
Fyb2 C T 4: 104,847,534 (GRCm39) T518M probably damaging Het
Gmds C A 13: 32,284,369 (GRCm39) D248Y probably damaging Het
Herc3 T A 6: 58,853,846 (GRCm39) F631I probably benign Het
Hhla1 T C 15: 65,839,226 (GRCm39) K55E possibly damaging Het
Il17rb T C 14: 29,728,054 (GRCm39) E51G probably damaging Het
Ildr1 T A 16: 36,529,862 (GRCm39) L83Q probably damaging Het
Ints9 A G 14: 65,245,506 (GRCm39) I255V probably benign Het
Itga9 G T 9: 118,636,315 (GRCm39) D668Y probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Klhl35 A G 7: 99,119,547 (GRCm39) Y344C probably damaging Het
Klra4 A G 6: 130,040,083 (GRCm39) V63A possibly damaging Het
Lgr4 A G 2: 109,836,907 (GRCm39) T414A probably benign Het
Lmbrd2 C T 15: 9,157,314 (GRCm39) T184M probably benign Het
Lrp1 T C 10: 127,381,689 (GRCm39) D3795G possibly damaging Het
N6amt1 T A 16: 87,159,421 (GRCm39) L109Q possibly damaging Het
Ncoa1 A G 12: 4,365,755 (GRCm39) C215R probably benign Het
Ngef G A 1: 87,408,315 (GRCm39) S584F possibly damaging Het
Notch4 T C 17: 34,801,673 (GRCm39) C1174R probably damaging Het
Opa1 T C 16: 29,404,874 (GRCm39) I24T probably benign Het
Or10v1 A C 19: 11,873,393 (GRCm39) I3L probably benign Het
Or1e1b-ps1 A T 11: 73,845,662 (GRCm39) I49F probably damaging Het
Or1o4 T C 17: 37,591,254 (GRCm39) E19G probably benign Het
Or4a15 A G 2: 89,193,692 (GRCm39) V27A probably benign Het
Pcnx2 A G 8: 126,542,512 (GRCm39) V1223A probably benign Het
Phf14 A G 6: 11,933,492 (GRCm39) K118R unknown Het
Plcd1 A T 9: 118,905,231 (GRCm39) M186K probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Sumf1 A T 6: 108,130,096 (GRCm39) C233S possibly damaging Het
Tbc1d12 A G 19: 38,902,461 (GRCm39) K540R probably benign Het
Tmem150c T C 5: 100,240,643 (GRCm39) N73S probably damaging Het
Tpra1 T C 6: 88,888,774 (GRCm39) S319P probably benign Het
Ttk C A 9: 83,750,143 (GRCm39) Y699* probably null Het
Vmn1r196 T A 13: 22,477,790 (GRCm39) L143* probably null Het
Vmn2r84 A G 10: 130,221,745 (GRCm39) V825A possibly damaging Het
Zpld2 T G 4: 133,929,553 (GRCm39) T251P probably benign Het
Other mutations in Galk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01762:Galk1 APN 11 115,900,834 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- ACAAGGAAGGGTCCCCAATG -3'
(R):5'- AAGTTGCAACCGAGTCTCTTC -3'

Sequencing Primer
(F):5'- ATGCGGCCCCTCACCATG -3'
(R):5'- GCAACCGAGTCTCTTCCTCCAG -3'
Posted On 2022-05-16