Mutagenetix > Incidental Mutation

Incidental Mutation 'R8039:Gck'

618428

Institutional Source

Beutler Lab

Gene Symbol

Gck

Ensembl Gene

ENSMUSG00000041798

Gene Name

glucokinase

Synonyms

Hlb62, Gls006, HK4, Gk, MODY2, hexokinase 4

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5900820-5950081 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5910301 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 114 (A114T)

Ref Sequence

ENSEMBL: ENSMUSP00000099984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102920] [ENSMUST00000109822] [ENSMUST00000109823]

AlphaFold

P52792

Predicted Effect

probably benign
Transcript: ENSMUST00000102920
AA Change: A114T

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099984
Gene: ENSMUSG00000041798
AA Change: A114T

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	10	217	4.3e-80	PFAM
Pfam:Hexokinase_2	219	458	1.3e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109822
AA Change: A114T

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105447
Gene: ENSMUSG00000041798
AA Change: A114T

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	10	217	1e-79	PFAM
Pfam:Hexokinase_2	219	458	7.8e-101	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109823
AA Change: A114T

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105448
Gene: ENSMUSG00000041798
AA Change: A114T

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	15	216	1.9e-74	PFAM
Pfam:Hexokinase_2	221	455	2.2e-79	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. Alternative splicing of this gene results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localizes to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. Mutations in this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), maturity onset diabetes of the young, type 2 (MODY2) and persistent hyperinsulinemic hypoglycemia of infancy (PHHI). [provided by RefSeq, Apr 2009]
PHENOTYPE: Targeted disruption of this gene causes mild hyperglycemia in heterozygous mice and extreme hyperglycemia and embryonic to postnatal lethality in homozygous mice. Hyperglycemic knock-out or ENU-induced mutants may show reduced body weight and liver glycogen level, hepatic steatosis, and glucosuria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 36,943,214	V1140E	probably benign	Het
Abca17	T	C	17: 24,328,725	H225R	probably damaging	Het
Adgrb2	T	A	4: 130,022,268	L1451Q	probably damaging	Het
Afdn	T	C	17: 13,899,141	L1713P	probably damaging	Het
Agr2	A	T	12: 35,995,559	I15F	probably benign	Het
Agrn	T	C	4: 156,169,011	T1808A	probably benign	Het
Akap6	A	G	12: 53,141,676	I1958V	probably benign	Het
Ankrd60	C	A	2: 173,572,491		probably null	Het
Anpep	A	G	7: 79,839,400		probably null	Het
Apoa4	A	T	9: 46,242,293	D64V	possibly damaging	Het
Arhgef26	C	A	3: 62,339,930	T145N	probably benign	Het
Art1	A	T	7: 102,106,845	Q81L	probably benign	Het
Astl	A	T	2: 127,343,983	S71C	probably damaging	Het
Atp2a1	A	G	7: 126,448,805	I611T	probably damaging	Het
Cacna2d2	T	A	9: 107,527,433	V1139D	possibly damaging	Het
Chst10	T	A	1: 38,866,031	K198*	probably null	Het
Ckmt2	G	A	13: 91,863,312	H60Y	possibly damaging	Het
Coq7	G	C	7: 118,533,246	S2R	possibly damaging	Het
Cspp1	T	A	1: 10,113,013	D814E	probably benign	Het
Cyp2c54	CCTCTTTCATAGCTCT	CCTCT	19: 40,073,732		probably null	Het
Daam2	C	A	17: 49,464,538	G860V	probably damaging	Het
Ecm2	A	T	13: 49,514,850	I10F	probably benign	Het
Epb41l1	A	T	2: 156,506,412	D312V	probably damaging	Het
Epsti1	G	A	14: 77,931,301	R126H	probably damaging	Het
Erc1	A	T	6: 119,773,665	Y367*	probably null	Het
Erh	T	A	12: 80,637,578	R42W	probably damaging	Het
Fam124a	C	T	14: 62,605,876	Q278*	probably null	Het
Fam155a	T	C	8: 9,207,892	T419A	probably benign	Het
Fbxo3	T	A	2: 104,054,941	L385Q	probably damaging	Het
Fbxo31	T	A	8: 121,559,055	T219S	probably damaging	Het
Fstl5	T	G	3: 76,648,418	V534G	possibly damaging	Het
Gatsl3	G	T	11: 4,221,639	A288S	probably damaging	Het
Gbp2b	A	T	3: 142,618,164	I577F	probably benign	Het
Gbp8	A	T	5: 105,050,917	L44*	probably null	Het
Gm16486	T	C	8: 70,710,906	V916A	probably benign	Het
Gtf2i	A	G	5: 134,255,834	V537A	possibly damaging	Het
Iqcm	C	A	8: 75,763,105	H400Q	probably damaging	Het
Itpr1	T	C	6: 108,386,628	L737P	probably damaging	Het
Jakmip1	A	G	5: 37,100,772	E254G	probably damaging	Het
Kif15	A	T	9: 123,007,425	R1095W	possibly damaging	Het
Klhdc8a	G	A	1: 132,303,108	R237Q	probably benign	Het
Klhl38	T	C	15: 58,322,862	E157G	probably benign	Het
Klrk1	T	A	6: 129,612,823	N221I	probably benign	Het
Lhx8	A	T	3: 154,306,939	H345Q	probably damaging	Het
Lims1	T	A	10: 58,409,672	N174K	probably benign	Het
Madd	T	A	2: 91,167,061	Q754L	probably benign	Het
Mau2	T	C	8: 70,019,790	D581G	probably damaging	Het
Miga1	A	T	3: 152,276,756	I561N	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mob3c	T	C	4: 115,831,687	V139A	probably benign	Het
Nadk	G	T	4: 155,577,067	D17Y	probably benign	Het
Ncapd2	C	T	6: 125,181,026	V380I	probably damaging	Het
Nes	G	A	3: 87,977,008	R858K	probably benign	Het
Nphp3	T	C	9: 104,031,963	S791P	probably benign	Het
Nup210	T	C	6: 91,070,233	T496A	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr1186	C	T	2: 88,525,871	T96I	probably benign	Het
Olfr220	T	A	1: 174,449,596	S324R	unknown	Het
Olfr914	T	A	9: 38,607,389	M308K	probably benign	Het
Ovgp1	T	A	3: 105,976,023	S105T	probably benign	Het
Pbld2	T	A	10: 63,047,992	C79S	probably damaging	Het
Pik3cd	T	A	4: 149,659,866	M143L	possibly damaging	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Poln	A	G	5: 34,122,672	V282A	probably benign	Het
Ppp1r11	T	C	17: 36,951,446	T21A	probably damaging	Het
Prpf8	T	A	11: 75,502,542	I1664N	possibly damaging	Het
Prr29	C	T	11: 106,376,912	A161V	probably benign	Het
Rasa3	T	C	8: 13,588,931	D292G	probably damaging	Het
Rnf25	T	C	1: 74,593,964	T411A	probably damaging	Het
Rraga	C	T	4: 86,575,980	T21I	probably damaging	Het
Setdb2	T	A	14: 59,402,375	Y673F	probably damaging	Het
Sf3a1	C	T	11: 4,167,787	T183I	probably damaging	Het
Shank3	A	T	15: 89,505,439	H413L	probably damaging	Het
Slc30a5	A	G	13: 100,813,681		probably null	Het
Slc6a18	T	C	13: 73,665,626	S523G	probably benign	Het
Spaca1	C	T	4: 34,044,207	V96I	probably damaging	Het
Sycp2	C	T	2: 178,374,585	A695T	probably benign	Het
Tnrc18	C	A	5: 142,732,052	G2216C	unknown	Het
Trak2	T	C	1: 58,946,288	N17S	probably benign	Het
Ttn	T	A	2: 76,878,432	N8792I	unknown	Het
Ttyh1	T	C	7: 4,122,541	V64A	probably benign	Het
Usb1	T	A	8: 95,333,413	S50R	probably damaging	Het
Ush2a	T	A	1: 188,957,373	I5044N	probably damaging	Het
Vmn1r84	A	T	7: 12,362,008	F253I	possibly damaging	Het
Vmn2r99	T	C	17: 19,380,040	I442T	probably benign	Het
Vsig1	C	T	X: 140,933,126	H232Y	probably benign	Het

Other mutations in Gck

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01624:Gck	APN	11	5903106	missense	possibly damaging	0.67
IGL01647:Gck	APN	11	5904472	missense	probably damaging	0.97
IGL03145:Gck	APN	11	5909093	missense	probably damaging	0.99
Grahamcracker	UTSW	11	5902165	missense	probably damaging	1.00
Tootsie	UTSW	11	5909150	missense	possibly damaging	0.63
R0139:Gck	UTSW	11	5909139	nonsense	probably null
R0139:Gck	UTSW	11	5910370	missense	probably damaging	1.00
R0691:Gck	UTSW	11	5906691	missense	probably damaging	1.00
R1829:Gck	UTSW	11	5910984	missense	probably damaging	0.97
R1866:Gck	UTSW	11	5903253	missense	probably benign	0.02
R1868:Gck	UTSW	11	5902165	missense	probably damaging	1.00
R1992:Gck	UTSW	11	5906515	missense	probably damaging	1.00
R3885:Gck	UTSW	11	5910318	missense	probably damaging	1.00
R4179:Gck	UTSW	11	5910295	missense	probably benign	0.43
R4888:Gck	UTSW	11	5909150	missense	possibly damaging	0.63
R7034:Gck	UTSW	11	5901747	missense	probably damaging	1.00
R7155:Gck	UTSW	11	5949705	start gained	probably benign
R7548:Gck	UTSW	11	5902040	missense
R8891:Gck	UTSW	11	5901733	missense	probably damaging	1.00
R9100:Gck	UTSW	11	5906516	missense	probably damaging	1.00
R9101:Gck	UTSW	11	5906516	missense	probably damaging	1.00
R9102:Gck	UTSW	11	5906516	missense	probably damaging	1.00
R9116:Gck	UTSW	11	5904377	missense	possibly damaging	0.71
R9370:Gck	UTSW	11	5902244	missense	possibly damaging	0.78
R9420:Gck	UTSW	11	5949553	critical splice donor site	probably null
R9536:Gck	UTSW	11	5902307	missense	possibly damaging	0.92
Z1176:Gck	UTSW	11	5906526	missense	probably damaging	1.00
Z1177:Gck	UTSW	11	5910958	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- AGCCTCTGAGACACCTTCTTG -3'
(R):5'- CAGTGTCTAGGCTAGCATCC -3'

Sequencing Primer
(F):5'- GAGACACCTTCTTGAGTCTCTGAAG -3'
(R):5'- TAGGCTAGCATCCCCTCAG -3'

Posted On

2020-01-23