Mutagenetix > Incidental Mutation

Incidental Mutation 'R6173:Galk2'

489119

Institutional Source

Beutler Lab

Gene Symbol

Galk2

Ensembl Gene

ENSMUSG00000027207

Gene Name

galactokinase 2

Synonyms

2810017M24Rik, Gk2

MMRRC Submission

044316-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6173 (G1)

Quality Score

209.009

Status

Not validated

Chromosome

Chromosomal Location

125701029-125826218 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to G at 125701137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119902 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028635] [ENSMUST00000028636] [ENSMUST00000110462] [ENSMUST00000110463] [ENSMUST00000125084]

AlphaFold

Q68FH4

Predicted Effect

probably benign
Transcript: ENSMUST00000028635

SMART Domains

Protein: ENSMUSP00000028635
Gene: ENSMUSG00000027206

Domain	Start	End	E-Value	Type
low complexity region	1	27	N/A	INTRINSIC
PAM	169	343	1.08e-64	SMART
PINT	345	427	4.24e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000028636

SMART Domains

Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207

Domain	Start	End	E-Value	Type
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: ENSMUST00000110462

SMART Domains

Protein: ENSMUSP00000106089
Gene: ENSMUSG00000027206

Domain	Start	End	E-Value	Type
low complexity region	1	27	N/A	INTRINSIC
PAM	140	302	1.59e-30	SMART
PINT	304	386	4.24e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110463

SMART Domains

Protein: ENSMUSP00000106090
Gene: ENSMUSG00000027206

Domain	Start	End	E-Value	Type
low complexity region	1	27	N/A	INTRINSIC
PAM	176	350	1.08e-64	SMART
PINT	352	434	4.24e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125084

SMART Domains

Protein: ENSMUSP00000119902
Gene: ENSMUSG00000027207

Domain	Start	End	E-Value	Type
Pfam:GalKase_gal_bdg	1	50	7.7e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152683

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

96% (52/54)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	T	C	3: 126,846,395 (GRCm39)	D219G	probably damaging	Het
Arap2	A	T	5: 62,906,965 (GRCm39)	I18N	probably damaging	Het
Baz1b	T	C	5: 135,271,361 (GRCm39)	S1315P	probably benign	Het
Bbs7	A	T	3: 36,646,523 (GRCm39)	C432*	probably null	Het
Bend3	A	G	10: 43,385,864 (GRCm39)	T86A	probably benign	Het
Cadm2	C	T	16: 66,679,729 (GRCm39)	V35I	probably benign	Het
Ch25h	A	G	19: 34,451,896 (GRCm39)	S211P	probably damaging	Het
Chd5	A	T	4: 152,463,848 (GRCm39)	H1476L	probably damaging	Het
Chia1	T	C	3: 106,036,338 (GRCm39)		probably null	Het
Clpx	C	A	9: 65,209,161 (GRCm39)	S92*	probably null	Het
Dazl	A	T	17: 50,594,599 (GRCm39)	M152K	probably benign	Het
Dnah17	A	G	11: 117,930,772 (GRCm39)	S3748P	probably damaging	Het
Dock2	T	C	11: 34,212,388 (GRCm39)	K1251R	probably null	Het
Esr1	T	C	10: 4,696,760 (GRCm39)	V203A	probably damaging	Het
F830045P16Rik	A	G	2: 129,305,588 (GRCm39)	I262T	probably damaging	Het
Foxp1	G	A	6: 98,992,471 (GRCm39)	Q41*	probably null	Het
Foxp1	C	A	6: 98,992,475 (GRCm39)		probably null	Het
Fshb	T	C	2: 106,887,638 (GRCm39)	E127G	possibly damaging	Het
Gid4	A	G	11: 60,323,241 (GRCm39)	D111G	probably damaging	Het
Gm14412	G	A	2: 177,006,330 (GRCm39)	P522S	probably damaging	Het
Iqank1	A	G	15: 75,917,237 (GRCm39)	E290G	probably damaging	Het
Mfap4	A	G	11: 61,376,245 (GRCm39)		probably null	Het
Mfsd2a	A	G	4: 122,845,039 (GRCm39)	V224A	probably benign	Het
Mocos	A	T	18: 24,809,639 (GRCm39)	Y414F	probably benign	Het
Mrto4	T	C	4: 139,077,755 (GRCm39)	I27V	probably benign	Het
Muc4	A	G	16: 32,554,958 (GRCm39)		probably benign	Het
Mug1	T	A	6: 121,840,752 (GRCm39)	I534N	probably damaging	Het
Mup20	A	T	4: 61,972,267 (GRCm39)	L7Q	unknown	Het
Nlrp2	T	C	7: 5,340,808 (GRCm39)	E2G	probably damaging	Het
Or11g1	A	G	14: 50,651,654 (GRCm39)	I218V	possibly damaging	Het
Or12k7	A	G	2: 36,959,091 (GRCm39)	Y258C	possibly damaging	Het
Or2y16	T	C	11: 49,335,299 (GRCm39)	V207A	probably benign	Het
Or6z5	C	T	7: 6,477,835 (GRCm39)	A242V	probably damaging	Het
Parn	T	C	16: 13,469,675 (GRCm39)	T209A	possibly damaging	Het
Psip1	T	A	4: 83,391,286 (GRCm39)		probably null	Het
Ptprc	A	C	1: 137,995,628 (GRCm39)	C1157G	probably damaging	Het
Rad17	A	C	13: 100,759,389 (GRCm39)	V546G	probably benign	Het
Rc3h2	GCC	GCCC	2: 37,304,745 (GRCm39)		probably null	Het
Safb	A	G	17: 56,904,798 (GRCm39)	E124G	probably damaging	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Skint5	T	C	4: 113,392,907 (GRCm39)	T1242A	unknown	Het
Slc13a5	C	T	11: 72,144,023 (GRCm39)	E352K	probably benign	Het
Sohlh2	G	T	3: 55,104,419 (GRCm39)	V263F	probably benign	Het
Strn	A	G	17: 79,008,298 (GRCm39)	Y107H	probably damaging	Het
Tbx15	G	T	3: 99,161,203 (GRCm39)	E3*	probably null	Het
Tespa1	A	G	10: 130,183,172 (GRCm39)	D39G	probably benign	Het
Trp73	A	T	4: 154,188,798 (GRCm39)	D54E	probably damaging	Het
Ttll5	A	T	12: 85,980,151 (GRCm39)	S912C	probably damaging	Het
Utp14b	A	T	1: 78,643,554 (GRCm39)	D484V	probably benign	Het
Utp14b	A	C	1: 78,643,557 (GRCm39)	N485T	probably benign	Het
Vmn2r29	T	C	7: 7,234,369 (GRCm39)	E839G	probably benign	Het
Vmn2r6	G	C	3: 64,467,176 (GRCm39)	P108A	probably damaging	Het
Vps8	T	G	16: 21,314,682 (GRCm39)		probably null	Het
Zfp36l1	A	T	12: 80,156,320 (GRCm39)		probably null	Het
Zfp998	T	A	13: 66,579,608 (GRCm39)	T292S	probably benign	Het
Zp3r	A	T	1: 130,519,305 (GRCm39)		probably null	Het

Other mutations in Galk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01652:Galk2	APN	2	125,738,685 (GRCm39)	missense	probably benign	0.29
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
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

Predicted Primers

Posted On

2017-10-10