Mutagenetix > Incidental Mutation

Incidental Mutation 'R0305:Galk2'

24881

Institutional Source

Beutler Lab

Gene Symbol

Galk2

Ensembl Gene

ENSMUSG00000027207

Gene Name

galactokinase 2

Synonyms

2810017M24Rik, Gk2

MMRRC Submission

038516-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125701029-125826218 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125729808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 63 (Y63C)

Ref Sequence

ENSEMBL: ENSMUSP00000118930 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028636] [ENSMUST00000094604] [ENSMUST00000125084] [ENSMUST00000131643] [ENSMUST00000134337] [ENSMUST00000134798]

AlphaFold

Q68FH4

Predicted Effect

probably damaging
Transcript: ENSMUST00000028636
AA Change: Y45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207
AA Change: Y45C

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 damaging
Transcript: ENSMUST00000094604
AA Change: Y56C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092186
Gene: ENSMUSG00000027207
AA Change: Y56C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000125084
AA Change: Y32C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119902
Gene: ENSMUSG00000027207
AA Change: Y32C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131643

Predicted Effect

probably damaging
Transcript: ENSMUST00000134337
AA Change: Y67C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120728
Gene: ENSMUSG00000027207
AA Change: Y67C

Domain	Start	End	E-Value	Type
Pfam:GalKase_gal_bdg	34	85	4.9e-26	PFAM
Pfam:GHMP_kinases_N	142	182	1.5e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000134798
AA Change: Y63C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118930
Gene: ENSMUSG00000027207
AA Change: Y63C

Domain	Start	End	E-Value	Type
Pfam:GalKase_gal_bdg	23	81	1.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140873

Meta Mutation Damage Score

0.9737

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 91.2%

Validation Efficiency

100% (59/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	G	A	7: 27,274,061 (GRCm39)	R183Q	probably damaging	Het
Abca5	A	G	11: 110,164,137 (GRCm39)		probably benign	Het
Ada	T	C	2: 163,570,077 (GRCm39)	K312R	probably benign	Het
Adam21	C	A	12: 81,607,059 (GRCm39)	K234N	possibly damaging	Het
Afdn	T	A	17: 14,108,776 (GRCm39)		probably null	Het
Aimp1	T	G	3: 132,379,747 (GRCm39)	K132Q	possibly damaging	Het
Aldh16a1	C	T	7: 44,797,403 (GRCm39)	R135Q	probably damaging	Het
Alox12b	A	T	11: 69,058,205 (GRCm39)	Y519F	probably benign	Het
Alppl2	T	C	1: 87,017,324 (GRCm39)	E25G	probably benign	Het
Apob	A	T	12: 8,062,210 (GRCm39)	N3531I	probably damaging	Het
Arhgap23	T	C	11: 97,391,935 (GRCm39)	L321P	probably damaging	Het
Cab39l	C	T	14: 59,757,028 (GRCm39)	Q137*	probably null	Het
Cenpo	A	T	12: 4,266,660 (GRCm39)	H149Q	possibly damaging	Het
Cpt1a	A	G	19: 3,428,455 (GRCm39)	T610A	probably benign	Het
Dcbld2	A	G	16: 58,269,302 (GRCm39)	T271A	probably damaging	Het
Dcps	A	G	9: 35,087,065 (GRCm39)		probably null	Het
Dnai2	A	G	11: 114,643,720 (GRCm39)	D462G	probably benign	Het
Dsg2	T	A	18: 20,715,752 (GRCm39)		probably benign	Het
Eomes	A	T	9: 118,313,825 (GRCm39)	E623D	probably benign	Het
Fras1	A	T	5: 96,744,747 (GRCm39)	H594L	probably benign	Het
Gad1-ps	T	G	10: 99,280,665 (GRCm39)		noncoding transcript	Het
H2-T10	A	G	17: 36,430,260 (GRCm39)	L227P	probably damaging	Het
Itgb4	T	G	11: 115,870,238 (GRCm39)	C73G	probably damaging	Het
Itpr2	T	C	6: 146,212,601 (GRCm39)	H1472R	possibly damaging	Het
Kcnh5	C	T	12: 75,161,171 (GRCm39)	A246T	probably benign	Het
Kpna6	G	T	4: 129,543,042 (GRCm39)	R458S	probably benign	Het
Lifr	A	G	15: 7,206,982 (GRCm39)	T498A	probably damaging	Het
Lrrd1	T	G	5: 3,915,707 (GRCm39)	I768S	probably damaging	Het
Map2	T	C	1: 66,452,253 (GRCm39)	V223A	probably benign	Het
Nod2	G	A	8: 89,391,951 (GRCm39)	A731T	probably damaging	Het
Nrxn2	G	A	19: 6,569,313 (GRCm39)	C1403Y	probably damaging	Het
Nxph1	A	T	6: 9,247,754 (GRCm39)	I242F	probably damaging	Het
Or5p79	G	A	7: 108,221,792 (GRCm39)	V258I	probably benign	Het
Pgr	A	G	9: 8,902,088 (GRCm39)		probably benign	Het
Pik3cb	A	G	9: 98,946,129 (GRCm39)	S566P	possibly damaging	Het
Sema4d	T	C	13: 51,866,764 (GRCm39)	Y242C	probably damaging	Het
Sftpc	T	A	14: 70,761,518 (GRCm39)		probably benign	Het
Sh3tc1	T	G	5: 35,881,343 (GRCm39)	E33D	probably benign	Het
Slc17a5	A	G	9: 78,464,819 (GRCm39)	L344P	probably benign	Het
Slc39a5	T	A	10: 128,234,265 (GRCm39)		probably benign	Het
Slc7a13	C	A	4: 19,839,401 (GRCm39)	H335N	probably benign	Het
Slco1a4	A	C	6: 141,763,479 (GRCm39)	N412K	possibly damaging	Het
Sox1	A	T	8: 12,446,736 (GRCm39)	T126S	probably damaging	Het
Specc1l	T	A	10: 75,081,663 (GRCm39)	V353E	probably damaging	Het
Stat5b	T	C	11: 100,693,329 (GRCm39)	E104G	probably benign	Het
Sult4a1	A	G	15: 83,970,868 (GRCm39)	V179A	probably damaging	Het
Tafa5	T	A	15: 87,604,709 (GRCm39)	I83N	probably damaging	Het
Tbl3	G	A	17: 24,924,435 (GRCm39)	R134C	probably damaging	Het
Tmem256	T	A	11: 69,729,737 (GRCm39)		probably benign	Het
Tmigd1	A	G	11: 76,797,960 (GRCm39)	T101A	probably damaging	Het
Unc5b	C	A	10: 60,615,437 (GRCm39)		probably benign	Het
Unc79	T	A	12: 103,079,459 (GRCm39)	S1679T	probably benign	Het
Vmn2r1	T	G	3: 63,997,087 (GRCm39)	C248G	probably damaging	Het
Vmn2r57	T	C	7: 41,076,967 (GRCm39)	I400V	probably benign	Het
Vwa8	T	A	14: 79,246,713 (GRCm39)	L685H	probably damaging	Het
Yeats4	A	G	10: 117,051,741 (GRCm39)	F172S	probably damaging	Het
Zfpm2	T	G	15: 40,637,431 (GRCm39)		probably benign	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
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
R6173:Galk2	UTSW	2	125,701,137 (GRCm39)	start gained	probably benign
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

2013-04-16