Mutagenetix > Incidental Mutation

Incidental Mutation 'R6145:Galk2'

488792

Institutional Source

Beutler Lab

Gene Symbol

Galk2

Ensembl Gene

ENSMUSG00000027207

Gene Name

galactokinase 2

Synonyms

2810017M24Rik, Gk2

MMRRC Submission

044292-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125859109-125984299 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125946842 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 272 (Q272L)

Ref Sequence

ENSEMBL: ENSMUSP00000092186 (fasta)

Gene Model

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

AlphaFold

Q68FH4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028636
AA Change: Q261L

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207
AA Change: Q261L

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

possibly damaging
Transcript: ENSMUST00000094604
AA Change: Q272L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092186
Gene: ENSMUSG00000027207
AA Change: Q272L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000110454

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 95.0%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	A	1: 86,052,942		probably null	Het
4930402H24Rik	T	C	2: 130,778,473	I247V	probably benign	Het
Abca8b	A	G	11: 109,973,808	V316A	probably benign	Het
Acad10	A	T	5: 121,622,033	V999D	probably damaging	Het
Acot8	A	G	2: 164,803,065	V66A	probably benign	Het
Ankrd11	T	C	8: 122,892,661	H1484R	probably damaging	Het
Anxa6	A	G	11: 54,994,904	F405S	probably damaging	Het
Asmt	G	A	X: 170,674,663	V101I	probably damaging	Het
Atp1a2	C	T	1: 172,287,238	V327I	probably damaging	Het
Brdt	A	G	5: 107,377,999	E906G	possibly damaging	Het
Cacna1g	A	T	11: 94,462,261	C313S	probably damaging	Het
Camk2d	T	C	3: 126,805,858	I329T	probably benign	Het
Cavin4	A	T	4: 48,663,794	H58L	probably damaging	Het
Ccdc78	C	A	17: 25,789,065	P317T	probably benign	Het
Cdc16	T	G	8: 13,767,573	Y295D	possibly damaging	Het
Cdyl2	T	A	8: 116,594,978	N270I	probably damaging	Het
Cfap221	T	A	1: 119,984,816	I114F	possibly damaging	Het
Dmxl1	A	G	18: 49,912,766	E2414G	possibly damaging	Het
Dnah1	C	A	14: 31,300,970	R1070L	probably benign	Het
Dnah14	T	C	1: 181,666,417	S1713P	probably benign	Het
Dock10	C	A	1: 80,575,904	G602*	probably null	Het
Ep400	A	T	5: 110,756,703	V10D	possibly damaging	Het
Epas1	T	C	17: 86,829,429	C807R	probably benign	Het
Esrrb	C	T	12: 86,505,899	P200L	probably benign	Het
Fbxw26	T	C	9: 109,732,623	I168V	probably benign	Het
Fsip2	A	T	2: 82,993,768	H6615L	possibly damaging	Het
Gas7	A	C	11: 67,629,612	T43P	probably damaging	Het
Gm5134	A	T	10: 75,995,839	I371F	probably damaging	Het
Gpr31b	C	T	17: 13,051,379	R301Q	possibly damaging	Het
Grk1	T	A	8: 13,405,765	Y216*	probably null	Het
Grm5	T	A	7: 88,026,601	M441K	probably damaging	Het
Heatr6	A	G	11: 83,766,136	E408G	probably damaging	Het
Hoxc9	G	T	15: 102,983,959	K201N	probably damaging	Het
Igsf10	T	A	3: 59,331,656	Y368F	possibly damaging	Het
Il2ra	A	T	2: 11,680,246	D131V	probably damaging	Het
Imp4	A	G	1: 34,440,096	E19G	probably benign	Het
Kcnk18	T	C	19: 59,235,607	*395Q	probably null	Het
Kdm6b	A	T	11: 69,405,026	L805Q	unknown	Het
Lgr4	T	A	2: 110,007,243	L427*	probably null	Het
Myt1l	G	A	12: 29,832,381	S525N	unknown	Het
Nasp	G	A	4: 116,611,077	T237I	probably benign	Het
Nell2	G	T	15: 95,473,561	Q98K	probably damaging	Het
Nfasc	C	T	1: 132,634,717	G107R	probably damaging	Het
Nsun4	A	G	4: 116,040,206	S203P	probably damaging	Het
Olfr24	T	G	9: 18,755,569	D22A	probably benign	Het
Olfr855	T	C	9: 19,584,888	V117A	probably benign	Het
Otogl	G	A	10: 107,777,117		silent	Het
Pde10a	T	C	17: 8,929,117	V366A	probably damaging	Het
Pdxk	T	A	10: 78,443,791	D250V	probably benign	Het
Pih1d1	T	A	7: 45,159,044	I179N	probably damaging	Het
Plaa	T	A	4: 94,583,992	I294F	probably damaging	Het
Pmel	C	A	10: 128,715,935	P213T	probably damaging	Het
Pom121l2	A	T	13: 21,982,302	R248*	probably null	Het
Pou2f1	T	C	1: 165,875,433		probably benign	Het
Ppm1j	G	A	3: 104,781,379	R98H	probably damaging	Het
Prkdc	C	T	16: 15,772,073	P2600L	probably damaging	Het
Prom1	T	C	5: 44,029,649	N422S	probably benign	Het
Pspn	C	T	17: 56,999,467	C154Y	probably damaging	Het
Ptdss1	T	C	13: 66,972,637		probably null	Het
Rapgef1	A	G	2: 29,736,666	Y993C	probably damaging	Het
Scrn2	A	C	11: 97,032,853	T219P	probably benign	Het
Sec23ip	T	G	7: 128,778,484	S874R	probably damaging	Het
Sept4	G	A	11: 87,585,246		probably null	Het
Slc15a3	C	T	19: 10,857,251	L499F	probably damaging	Het
Spaca9	G	A	2: 28,693,781	R64W	probably damaging	Het
Sra1	A	G	18: 36,667,575	M193T	probably damaging	Het
Srsf4	G	T	4: 131,900,294		probably benign	Het
Syne1	T	C	10: 5,052,750	D8055G	probably damaging	Het
Syne4	T	A	7: 30,316,563		probably null	Het
Tbc1d24	C	A	17: 24,208,229	G253V	probably damaging	Het
Tbck	T	A	3: 132,732,215	I467N	probably damaging	Het
Tln1	T	A	4: 43,538,030	M1857L	possibly damaging	Het
Ttll2	T	C	17: 7,351,632	R299G	probably benign	Het
Ugt2b36	T	G	5: 87,066,213	E524A	probably benign	Het
Vmn2r124	C	T	17: 18,062,851	T269I	probably benign	Het
Vmn2r4	A	G	3: 64,406,943	F206L	probably benign	Het
Zfp346	A	G	13: 55,115,574	K156R	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
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
R7480:Galk2	UTSW	2	125946925	missense	probably benign
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'- CTGAGGCCATAATGCATTTCTG -3'
(R):5'- GTGTGGCAAATGGGTCATGC -3'

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

Posted On

2017-10-10