Mutagenetix > Incidental Mutation

Incidental Mutation 'R7973:Galk1'

650730

Institutional Source

Beutler Lab

Gene Symbol

Galk1

Ensembl Gene

ENSMUSG00000020766

Gene Name

galactokinase 1

Synonyms

Glk, Glk1

MMRRC Submission

046016-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7973 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115899283-115903545 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115903435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 24 (F24L)

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

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000021114
AA Change: F24L

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021114
Gene: ENSMUSG00000020766
AA Change: F24L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016L21Rik	A	G	5: 115,084,112 (GRCm39)	D76G	probably benign	Het
Abcg1	T	C	17: 31,323,132 (GRCm39)	V237A	probably damaging	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Akap11	A	T	14: 78,752,506 (GRCm39)	H122Q		Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Arhgef4	C	T	1: 34,763,518 (GRCm39)	R925W	possibly damaging	Het
Arid1a	C	T	4: 133,480,381 (GRCm39)	G181D	probably damaging	Het
Ash1l	T	A	3: 88,960,164 (GRCm39)	S2299T	probably benign	Het
Atf7ip	C	T	6: 136,538,062 (GRCm39)	Q432*	probably null	Het
B430306N03Rik	T	A	17: 48,623,483 (GRCm39)	S10T	probably benign	Het
Bckdk	A	G	7: 127,505,539 (GRCm39)	I221V	probably benign	Het
Brinp2	T	C	1: 158,074,057 (GRCm39)	Y688C	probably damaging	Het
Caml	C	T	13: 55,779,784 (GRCm39)	L286F	probably benign	Het
Ccdc125	C	T	13: 100,806,331 (GRCm39)		probably benign	Het
Cdh24	A	T	14: 54,876,477 (GRCm39)	V116E	possibly damaging	Het
Cenpe	T	A	3: 134,929,011 (GRCm39)	I305N	probably damaging	Het
Cep41	C	T	6: 30,680,130 (GRCm39)	G33S	probably damaging	Het
Clec4b2	A	T	6: 123,181,148 (GRCm39)	I178L	probably benign	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dapk1	T	A	13: 60,909,377 (GRCm39)	L1330Q	probably damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Fmnl1	G	T	11: 103,061,984 (GRCm39)		probably benign	Het
Hyal4	T	A	6: 24,755,785 (GRCm39)	M1K	probably null	Het
Ighe	T	C	12: 113,236,677 (GRCm39)	T64A		Het
Iqch	A	G	9: 63,432,228 (GRCm39)	I389T	possibly damaging	Het
Ism2	G	T	12: 87,333,769 (GRCm39)	T92K	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Kdm1b	T	C	13: 47,230,922 (GRCm39)	S650P	probably benign	Het
Mapkapk5	T	G	5: 121,663,776 (GRCm39)	N426T	possibly damaging	Het
Mroh5	G	T	15: 73,664,614 (GRCm39)	Y90*	probably null	Het
Ncan	T	G	8: 70,550,225 (GRCm39)	I1184L	probably benign	Het
Nectin3	T	C	16: 46,216,484 (GRCm39)	T439A	probably benign	Het
Neo1	G	T	9: 58,897,476 (GRCm39)	A160E	probably damaging	Het
Nosip	T	C	7: 44,726,784 (GRCm39)	S295P	possibly damaging	Het
Nup205	T	A	6: 35,222,274 (GRCm39)	F1979L	probably benign	Het
Nxpe2	A	T	9: 48,231,168 (GRCm39)	D400E	probably damaging	Het
Or4a73	T	A	2: 89,421,331 (GRCm39)	I43F	probably damaging	Het
Pfkfb4	G	A	9: 108,854,179 (GRCm39)	R351Q	probably damaging	Het
Psg29	T	C	7: 16,944,462 (GRCm39)	I324T	probably benign	Het
Ptprh	G	T	7: 4,583,887 (GRCm39)	T235N	possibly damaging	Het
Ralgapa2	T	A	2: 146,230,481 (GRCm39)	N981I	possibly damaging	Het
Ralgps1	T	C	2: 33,036,651 (GRCm39)	Y421C	probably damaging	Het
Sf3b3	T	C	8: 111,542,922 (GRCm39)	E845G	possibly damaging	Het
Sgk1	G	T	10: 21,870,054 (GRCm39)	S31I	probably benign	Het
Sim1	T	G	10: 50,857,419 (GRCm39)	Y390D	probably damaging	Het
Slain2	T	A	5: 73,112,779 (GRCm39)	Y271*	probably null	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Stab1	A	T	14: 30,881,590 (GRCm39)		probably null	Het
Supv3l1	A	T	10: 62,285,202 (GRCm39)	L88Q	probably damaging	Het
Syt2	C	A	1: 134,668,570 (GRCm39)		probably null	Het
Tpr	C	T	1: 150,279,638 (GRCm39)	R256C	probably damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Usp32	A	G	11: 84,913,634 (GRCm39)	I899T	probably damaging	Het
Usp6nl	G	T	2: 6,413,762 (GRCm39)	R96M	probably damaging	Het
Vmn1r75	A	G	7: 11,614,961 (GRCm39)	D231G	probably benign	Het
Vmn2r42	T	C	7: 8,197,872 (GRCm39)	E249G	probably benign	Het
Zbtb34	C	T	2: 33,301,531 (GRCm39)	G337R	probably benign	Het
Zfp457	T	A	13: 67,441,882 (GRCm39)	H231L	probably benign	Het
Zfp715	C	T	7: 42,949,321 (GRCm39)	G213D	possibly damaging	Het
Zfp760	T	G	17: 21,941,084 (GRCm39)	H86Q	probably benign	Het

Other mutations in Galk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8749:Galk1	UTSW	11	115,899,762 (GRCm39)	missense	probably damaging	1.00
R9434:Galk1	UTSW	11	115,903,494 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTCTCTCACGTCTGCTAGAC -3'
(R):5'- AGAGCTAAGTTTGGACCCCG -3'

Sequencing Primer
(F):5'- ACGTCTGCTAGACCGCTTCAC -3'
(R):5'- AAGTTTGGACCCCGCTCTG -3'

Posted On

2020-09-15