Mutagenetix > Incidental Mutation

Incidental Mutation 'R7174:Galk2'

558469

Institutional Source

Beutler Lab

Gene Symbol

Galk2

Ensembl Gene

ENSMUSG00000027207

Gene Name

galactokinase 2

Synonyms

2810017M24Rik, Gk2

MMRRC Submission

045266-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7174 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125701029-125826218 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125738621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 138 (I138M)

Ref Sequence

ENSEMBL: ENSMUSP00000092186 (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: I127M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207
AA Change: I127M

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: I138M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092186
Gene: ENSMUSG00000027207
AA Change: I138M

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

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

probably benign
Transcript: ENSMUST00000131643

Predicted Effect

probably damaging
Transcript: ENSMUST00000134337
AA Change: I149M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120728
Gene: ENSMUSG00000027207
AA Change: I149M

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 benign
Transcript: ENSMUST00000134798

SMART Domains

Protein: ENSMUSP00000118930
Gene: ENSMUSG00000027207

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

97% (61/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	A	5: 144,981,627 (GRCm39)	A154E	probably benign	Het
Adamts1	C	A	16: 85,596,060 (GRCm39)	A419S	probably benign	Het
Arap2	C	G	5: 62,761,621 (GRCm39)	V1702L	probably benign	Het
Arpc1a	C	T	5: 145,034,087 (GRCm39)	P152S	probably benign	Het
Bbs10	T	A	10: 111,136,628 (GRCm39)	C580*	probably null	Het
Bcam	A	G	7: 19,499,376 (GRCm39)	Y216H	probably damaging	Het
C2cd3	T	C	7: 100,081,405 (GRCm39)	S1016P		Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Ceacam5	T	A	7: 17,491,839 (GRCm39)		probably null	Het
Cfap57	A	G	4: 118,446,264 (GRCm39)	V666A	probably benign	Het
Cntn3	A	G	6: 102,142,305 (GRCm39)	F1021L	probably benign	Het
Cr1l	C	T	1: 194,811,497 (GRCm39)	G119D	probably benign	Het
Fgf10	A	T	13: 118,851,942 (GRCm39)	H8L	probably benign	Het
Fras1	T	A	5: 96,903,436 (GRCm39)		probably null	Het
Frem1	G	T	4: 82,840,493 (GRCm39)	T1811N	probably benign	Het
Fsd1	A	T	17: 56,298,356 (GRCm39)	Q227L	probably benign	Het
Igkv8-30	A	G	6: 70,094,582 (GRCm39)	V7A	possibly damaging	Het
Katnb1	G	A	8: 95,824,069 (GRCm39)	A450T	probably benign	Het
Kif14	A	T	1: 136,448,995 (GRCm39)	E1465V	possibly damaging	Het
Klra3	A	T	6: 130,312,941 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lepr	A	G	4: 101,607,535 (GRCm39)	N251S	probably benign	Het
Lrp2	T	C	2: 69,263,416 (GRCm39)	M4379V	probably benign	Het
Lrriq1	T	C	10: 103,060,826 (GRCm39)	N92S	probably benign	Het
Map3k13	A	G	16: 21,745,006 (GRCm39)	N855S	probably damaging	Het
Marf1	T	A	16: 13,954,817 (GRCm39)	D900V	probably damaging	Het
Nckap5l	A	T	15: 99,321,884 (GRCm39)	M1087K	probably benign	Het
Nlrp9c	T	C	7: 26,084,722 (GRCm39)	N286D	probably benign	Het
Or12j4	T	C	7: 140,047,076 (GRCm39)	*321Q	probably null	Het
Or13c7d	C	T	4: 43,770,691 (GRCm39)	A107T	not run	Het
Or4k2	T	C	14: 50,424,153 (GRCm39)	I175V	probably benign	Het
Or51ah3	A	T	7: 103,210,598 (GRCm39)	R305*	probably null	Het
Or5g9	C	T	2: 85,552,297 (GRCm39)	P183S	possibly damaging	Het
Or5p72	T	A	7: 108,022,367 (GRCm39)	S196R	probably benign	Het
Pcdhga3	A	G	18: 37,808,980 (GRCm39)	T478A	probably benign	Het
Pdgfrb	T	C	18: 61,199,587 (GRCm39)	I385T	probably benign	Het
Poteg	C	T	8: 27,943,305 (GRCm39)	R192W	probably benign	Het
Prmt2	G	T	10: 76,061,173 (GRCm39)	D104E	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rlbp1	T	C	7: 79,027,090 (GRCm39)	N190S	possibly damaging	Het
Ryr2	T	C	13: 11,816,063 (GRCm39)	D641G	possibly damaging	Het
Sh3gl1	A	T	17: 56,324,846 (GRCm39)	M303K	probably benign	Het
Slc26a5	A	G	5: 22,018,892 (GRCm39)	V649A	probably damaging	Het
Slco4c1	T	C	1: 96,765,323 (GRCm39)	N376D	possibly damaging	Het
Socs3	A	T	11: 117,858,553 (GRCm39)	Y168*	probably null	Het
Spata31d1d	A	T	13: 59,876,394 (GRCm39)	N380K	possibly damaging	Het
Speer1c	T	C	5: 10,295,237 (GRCm39)	K56E	probably damaging	Het
Ssbp3	A	G	4: 106,894,843 (GRCm39)	N254S	probably benign	Het
Stard10	C	T	7: 100,995,226 (GRCm39)	S326L	probably damaging	Het
Taf2	T	C	15: 54,912,135 (GRCm39)	D524G	possibly damaging	Het
Taf7	A	T	18: 37,776,053 (GRCm39)	S171R	probably damaging	Het
Tchh	C	T	3: 93,353,478 (GRCm39)	R973C	unknown	Het
Tmem67	T	C	4: 12,077,337 (GRCm39)	R172G	possibly damaging	Het
Top2a	C	A	11: 98,914,922 (GRCm39)		probably benign	Het
Ttc8	T	A	12: 98,940,960 (GRCm39)	N323K	possibly damaging	Het
Txnl1	T	C	18: 63,804,667 (GRCm39)	N276D	probably benign	Het
Usp24	T	G	4: 106,219,878 (GRCm39)		probably null	Het
Vmn1r18	A	C	6: 57,366,609 (GRCm39)		probably null	Het
Vmn2r53	A	T	7: 12,315,628 (GRCm39)	H730Q	probably benign	Het
Wnk1	A	C	6: 119,947,939 (GRCm39)	I500M	probably damaging	Het
Zfp335	A	T	2: 164,744,423 (GRCm39)	Y451N	probably damaging	Het
Zfp683	T	A	4: 133,783,064 (GRCm39)	I176N	probably damaging	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
R6173:Galk2	UTSW	2	125,701,137 (GRCm39)	start gained	probably benign
R6287:Galk2	UTSW	2	125,712,268 (GRCm39)	intron	probably benign
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

PCR Primer
(F):5'- GTTACTGCAAAAGCTTTGTGTG -3'
(R):5'- GCACTTCCCACAGATGTTGG -3'

Sequencing Primer
(F):5'- TACTGCAAAAGCTTTGTGTGTGTCG -3'
(R):5'- GGCTTTTCCTTTCCAGTTAAGACAGG -3'

Posted On

2019-06-26