Mutagenetix > Incidental Mutation

Incidental Mutation 'R7480:Galk2'

579717

Institutional Source

Beutler Lab

Gene Symbol

Galk2

Ensembl Gene

ENSMUSG00000027207

Gene Name

galactokinase 2

Synonyms

2810017M24Rik, Gk2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125859109-125984299 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125946925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 300 (I300V)

Ref Sequence

ENSEMBL: ENSMUSP00000092186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028636] [ENSMUST00000094604]

AlphaFold

Q68FH4

Predicted Effect

probably benign
Transcript: ENSMUST00000028636
AA Change: I289V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207
AA Change: I289V

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: ENSMUST00000094604
AA Change: I300V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092186
Gene: ENSMUSG00000027207
AA Change: I300V

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0590

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	T	G	5: 24,546,906	E498A	probably damaging	Het
Alg9	T	G	9: 50,822,628	M542R	probably benign	Het
Apol10b	G	T	15: 77,588,788	A22D	probably benign	Het
Arhgap45	T	A	10: 80,027,102	L704*	probably null	Het
Bicc1	T	C	10: 70,943,476	D694G	probably damaging	Het
C1ql3	A	T	2: 13,010,339	I170N	probably damaging	Het
Casz1	T	C	4: 148,944,586	F1163L	probably damaging	Het
Ces2f	A	G	8: 104,954,706	K559R	possibly damaging	Het
Col19a1	C	T	1: 24,317,707	G632R	probably damaging	Het
Cr2	C	T	1: 195,154,176	C893Y	probably damaging	Het
Csf1r	T	G	18: 61,117,538	D440E	probably benign	Het
Cul9	A	T	17: 46,537,812	M666K	probably benign	Het
Dapk1	A	G	13: 60,757,497	D1007G	probably benign	Het
Dlk1	T	A	12: 109,455,614	C85S	probably damaging	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Epb41l3	A	C	17: 69,261,872		probably null	Het
Eri2	T	A	7: 119,786,511	R256*	probably null	Het
Fam71f2	G	A	6: 29,281,436		probably null	Het
Fshr	A	C	17: 88,985,374	Y625*	probably null	Het
Gm3409	T	A	5: 146,539,501	V154E	probably damaging	Het
Gm7356	A	G	17: 14,001,065	I234T	possibly damaging	Het
Gtf3c1	T	C	7: 125,642,541	Y1995C	probably benign	Het
Herc6	C	T	6: 57,581,221	T62I	possibly damaging	Het
Hif3a	G	A	7: 17,042,635	T462I	possibly damaging	Het
Hmcn1	A	T	1: 150,677,234		probably null	Het
Jrk	G	T	15: 74,707,053	P128T	probably benign	Het
Kctd14	T	C	7: 97,458,224	F229L	probably benign	Het
Kif27	A	T	13: 58,288,211	V1256E	probably benign	Het
Klk13	T	C	7: 43,721,422	S133P	probably benign	Het
Mpzl1	A	G	1: 165,604,688	V176A	possibly damaging	Het
Mxi1	A	G	19: 53,371,635	T263A	possibly damaging	Het
Nfxl1	C	T	5: 72,559,252	W5*	probably null	Het
Nt5dc1	C	A	10: 34,324,453	G190V	probably damaging	Het
Nt5dc1	C	T	10: 34,324,454	G190R	probably damaging	Het
Olfr1282	A	G	2: 111,335,392	S229P	probably benign	Het
Olfr161	A	T	16: 3,592,629	T78S	probably benign	Het
Olfr308	A	G	7: 86,321,680	S91P	probably benign	Het
Olfr866	C	T	9: 20,027,934	M1I	probably null	Het
Oprd1	A	G	4: 132,117,181	I172T	possibly damaging	Het
Pafah1b1	A	C	11: 74,685,914	C184G	probably damaging	Het
Pde5a	A	T	3: 122,803,148	N495Y	possibly damaging	Het
Piezo1	A	T	8: 122,498,495	Y588*	probably null	Het
Plekha7	A	T	7: 116,137,168		probably null	Het
Pramef6	T	C	4: 143,895,495	D430G	probably benign	Het
Prdm11	T	C	2: 92,975,324	K427R	probably benign	Het
Rai14	C	A	15: 10,571,536	E940D	probably benign	Het
Rasl11b	T	A	5: 74,198,110	V92E	possibly damaging	Het
Rassf8	T	A	6: 145,820,031	I29K	unknown	Het
Reg3a	C	T	6: 78,382,347	T110I	probably damaging	Het
Scaf1	C	T	7: 45,007,649	G602D	unknown	Het
Senp6	T	C	9: 80,121,917	C521R	probably damaging	Het
Senp7	G	A	16: 56,155,226	V432I	possibly damaging	Het
Skint8	A	T	4: 111,928,587	R77*	probably null	Het
Slamf9	G	A	1: 172,477,473	C218Y	probably damaging	Het
Slc8a1	T	C	17: 81,649,220	T130A	probably damaging	Het
Smpdl3a	A	G	10: 57,802,478	I126V	possibly damaging	Het
Taar9	T	A	10: 24,108,945	N197I	possibly damaging	Het
Tango6	A	T	8: 106,696,727	D378V	possibly damaging	Het
Tfb2m	A	G	1: 179,529,182	F396L	probably benign	Het
Thbs4	G	A	13: 92,767,221	P429L	probably benign	Het
Tnxb	A	G	17: 34,715,773	D2452G	probably damaging	Het
Ulk3	C	T	9: 57,591,240	R131*	probably null	Het
Vmn1r179	A	T	7: 23,929,133	R250*	probably null	Het
Vmn1r54	A	G	6: 90,269,178	I25V	possibly damaging	Het
Wnt7a	C	A	6: 91,394,413	R189L	probably benign	Het
Wrap73	A	G	4: 154,152,586	D210G	probably benign	Het
Xpo6	G	A	7: 126,102,333	R1112*	probably null	Het
Zfp114	T	A	7: 24,181,882	V552D	probably damaging	Het

Other mutations in Galk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01652:Galk2	APN	2	125896765	missense	probably benign	0.29
IGL01663:Galk2	APN	2	125983179	missense	probably benign
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
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
R8478:Galk2	UTSW	2	125929585	nonsense	probably null
R9292:Galk2	UTSW	2	125975298	missense	probably damaging	1.00
R9574:Galk2	UTSW	2	125983059	missense	probably benign
R9610:Galk2	UTSW	2	125975298	missense	probably damaging	1.00
R9611:Galk2	UTSW	2	125975298	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCATAATGCATTTCTGAGC -3'
(R):5'- CCAAATTCTCCAAATTCCTTAAGGC -3'

Sequencing Primer
(F):5'- TGCATTTCTGAGCAATAATGGG -3'
(R):5'- GTGTGGCAAATGGGTCAT -3'

Posted On

2019-10-07