Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Hk3'

62674

Institutional Source

Beutler Lab

Gene Symbol

Hk3

Ensembl Gene

ENSMUSG00000025877

Gene Name

hexokinase 3

Synonyms

MMRRC Submission

038892-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R0709 (G1)

Quality Score

105

Status

Validated

Chromosome

Chromosomal Location

55005985-55021385 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55014730 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 47 (R47C)

Ref Sequence

ENSEMBL: ENSMUSP00000115227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052949] [ENSMUST00000123097] [ENSMUST00000126234] [ENSMUST00000132309] [ENSMUST00000148221] [ENSMUST00000153665]

AlphaFold

Q3TRM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000052949
AA Change: R102C

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

SMART Domains

Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877
AA Change: R102C

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	29	232	3.7e-76	PFAM
Pfam:Hexokinase_2	234	473	1.9e-87	PFAM
Pfam:Hexokinase_1	475	674	2.2e-77	PFAM
Pfam:Hexokinase_2	676	915	2.3e-103	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000123097
AA Change: R102C

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

SMART Domains

Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877
AA Change: R102C

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	29	232	3.3e-77	PFAM
Pfam:Hexokinase_2	234	457	6e-74	PFAM
Pfam:Hexokinase_1	430	629	3e-78	PFAM
Pfam:Hexokinase_2	631	870	1e-104	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000126234
AA Change: R102C

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

SMART Domains

Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877
AA Change: R102C

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	31	230	2.4e-63	PFAM
Pfam:Hexokinase_2	236	470	2.9e-62	PFAM
Pfam:Hexokinase_1	480	673	2e-69	PFAM
Pfam:Hexokinase_2	678	912	1.5e-81	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000132309
AA Change: R102C

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

SMART Domains

Protein: ENSMUSP00000117254
Gene: ENSMUSG00000025877
AA Change: R102C

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	29	164	4.1e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135983

Predicted Effect

probably benign
Transcript: ENSMUST00000148221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149644

Predicted Effect

probably damaging
Transcript: ENSMUST00000153665
AA Change: R47C

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

SMART Domains

Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877
AA Change: R47C

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	1	177	8.5e-70	PFAM
Pfam:Hexokinase_2	179	418	9.4e-88	PFAM
Pfam:Hexokinase_1	420	619	1.2e-77	PFAM
Pfam:Hexokinase_2	621	860	1.1e-103	PFAM

Meta Mutation Damage Score

0.8039

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

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. This gene encodes hexokinase 3. Similar to hexokinases 1 and 2, this allosteric enzyme is inhibited by its product glucose-6-phosphate. [provided by RefSeq, Apr 2009]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,618,494	D137V	probably damaging	Het
Aar2	C	T	2: 156,567,010	P378L	probably damaging	Het
Abcc5	A	T	16: 20,376,592	H718Q	possibly damaging	Het
Ace	G	T	11: 105,981,538	L319F	probably damaging	Het
Angpt4	C	A	2: 151,934,514	P321T	possibly damaging	Het
Atrip	T	C	9: 109,067,103	N282S	probably benign	Het
AW554918	A	C	18: 25,463,654	S525R	probably damaging	Het
Casc4	T	A	2: 121,867,425	V74E	probably damaging	Het
Ccdc136	T	A	6: 29,414,970	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,067,662	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,136,646	H223R	probably benign	Het
Cd109	T	C	9: 78,671,978	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,961,548		probably benign	Het
Copb2	A	T	9: 98,563,167		probably benign	Het
Csrnp3	C	T	2: 66,022,563	S445L	probably damaging	Het
Cxcl13	G	T	5: 95,958,671	C34F	probably damaging	Het
Dars2	T	C	1: 161,046,928	E397G	probably benign	Het
Dlg5	C	T	14: 24,146,255	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,884,265		probably benign	Het
Eif4a1	C	A	11: 69,670,252	A76S	probably damaging	Het
Fam162b	T	A	10: 51,587,251	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,291,313	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359	F152L	probably damaging	Het
Galnt2	G	A	8: 124,343,346	G534D	probably benign	Het
Gm973	C	T	1: 59,558,234		probably benign	Het
Gprc5a	T	A	6: 135,078,950	S132T	probably damaging	Het
Hrnr	A	T	3: 93,332,508	Q3351L	unknown	Het
Icam1	T	A	9: 21,019,127	F92L	probably damaging	Het
Ifi213	C	T	1: 173,589,800	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,298,904		probably benign	Het
Irx3	A	G	8: 91,799,420	V487A	possibly damaging	Het
Kalrn	A	G	16: 34,035,554	V204A	probably damaging	Het
Krt16	T	C	11: 100,246,454		probably benign	Het
Loxhd1	G	A	18: 77,404,969	V1369I	probably benign	Het
Med13	T	A	11: 86,319,596	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,188,188	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,827,733	D461V	unknown	Het
Nek6	T	A	2: 38,557,846	S41T	probably damaging	Het
Nudt22	T	C	19: 6,993,506	E232G	probably damaging	Het
Numbl	C	A	7: 27,273,990	F192L	probably damaging	Het
Olfr1202	C	T	2: 88,817,882	T237I	probably benign	Het
Olfr834	T	A	9: 18,988,126	I46K	probably damaging	Het
P2rx4	T	C	5: 122,714,404	V47A	probably damaging	Het
Phka1	T	A	X: 102,586,104	I478F	probably damaging	Het
Pkn2	G	A	3: 142,830,520	T200I	probably damaging	Het
Plcg1	T	A	2: 160,751,778		probably null	Het
Polg2	C	T	11: 106,768,413	G425R	probably damaging	Het
Ptprm	G	T	17: 66,944,332		probably null	Het
Reg1	G	A	6: 78,428,118	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,256,798	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,374,777	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,946,159	V28M	possibly damaging	Het
Snap29	A	G	16: 17,406,148	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,470		probably benign	Het
Sorcs3	G	A	19: 48,487,406	A235T	probably benign	Het
Sp100	T	A	1: 85,694,281	N362K	probably damaging	Het
Sqor	A	T	2: 122,799,855	I32F	probably benign	Het
Stx6	C	T	1: 155,193,294	R189C	probably damaging	Het
Tchp	T	C	5: 114,717,453	I298T	probably damaging	Het
Themis	A	G	10: 28,761,574	I225V	probably benign	Het
Timm50	A	T	7: 28,306,941	V245E	probably damaging	Het
Tnxb	A	G	17: 34,689,354	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,749,607	R205H	probably benign	Het
Tradd	T	C	8: 105,260,644	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,582,146	E37K	probably benign	Het
Ttn	T	C	2: 76,899,403		probably benign	Het
Ttr	A	T	18: 20,669,977		probably null	Het
Ubp1	A	G	9: 113,944,931	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,677,619	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,042,904	N98K	probably damaging	Het
Yipf5	A	G	18: 40,207,772	S176P	probably benign	Het
Zpbp2	C	T	11: 98,553,937	T97I	probably damaging	Het

Other mutations in Hk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Hk3	APN	13	55014426	critical splice donor site	probably null
IGL01314:Hk3	APN	13	55007063	splice site	probably benign
IGL02043:Hk3	APN	13	55015095	missense	probably damaging	1.00
IGL02197:Hk3	APN	13	55014468	missense	probably damaging	1.00
IGL02619:Hk3	APN	13	55014294	missense	probably damaging	1.00
R0454:Hk3	UTSW	13	55008705	missense	probably damaging	1.00
R0518:Hk3	UTSW	13	55014426	critical splice donor site	probably null
R0521:Hk3	UTSW	13	55014426	critical splice donor site	probably null
R1386:Hk3	UTSW	13	55007030	splice site	probably null
R1567:Hk3	UTSW	13	55006605	missense	probably damaging	1.00
R1647:Hk3	UTSW	13	55014461	missense	probably damaging	1.00
R1648:Hk3	UTSW	13	55014461	missense	probably damaging	1.00
R1663:Hk3	UTSW	13	55006575	missense	probably benign	0.00
R1936:Hk3	UTSW	13	55011391	missense	probably damaging	0.98
R1940:Hk3	UTSW	13	55011391	missense	probably damaging	0.98
R1966:Hk3	UTSW	13	55014455	missense	probably damaging	1.00
R2345:Hk3	UTSW	13	55008993	missense	probably damaging	1.00
R4838:Hk3	UTSW	13	55006418	missense	probably damaging	1.00
R4852:Hk3	UTSW	13	55012596	missense	probably damaging	0.99
R4883:Hk3	UTSW	13	55010922	missense	probably benign	0.04
R4888:Hk3	UTSW	13	55006592	missense	probably damaging	1.00
R5100:Hk3	UTSW	13	55009030	missense	probably damaging	1.00
R5253:Hk3	UTSW	13	55011011	missense	probably damaging	1.00
R5328:Hk3	UTSW	13	55013493	missense	probably benign	0.00
R5441:Hk3	UTSW	13	55015056	missense	probably damaging	1.00
R5493:Hk3	UTSW	13	55011171	missense	probably damaging	1.00
R5557:Hk3	UTSW	13	55012075	nonsense	probably null
R5575:Hk3	UTSW	13	55014770	missense	probably damaging	0.99
R5578:Hk3	UTSW	13	55012181	missense	probably damaging	1.00
R5686:Hk3	UTSW	13	55006813	missense	probably damaging	1.00
R5872:Hk3	UTSW	13	55010804	missense	probably damaging	1.00
R6038:Hk3	UTSW	13	55006560	missense	probably benign	0.13
R6038:Hk3	UTSW	13	55006560	missense	probably benign	0.13
R6314:Hk3	UTSW	13	55013580	missense	probably benign	0.02
R6315:Hk3	UTSW	13	55011157	missense	probably benign	0.03
R6797:Hk3	UTSW	13	55010831	splice site	probably null
R6827:Hk3	UTSW	13	55011352	missense	probably damaging	0.98
R6860:Hk3	UTSW	13	55014465	missense	probably damaging	0.98
R7082:Hk3	UTSW	13	55006897	missense	probably benign	0.40
R7227:Hk3	UTSW	13	55012240	missense	probably benign	0.00
R7564:Hk3	UTSW	13	55011396	missense	probably damaging	1.00
R8274:Hk3	UTSW	13	55011417	missense	possibly damaging	0.95
R9704:Hk3	UTSW	13	55012440	critical splice donor site	probably null
X0003:Hk3	UTSW	13	55007136	missense	probably benign	0.01
Z1177:Hk3	UTSW	13	55010708	missense	probably damaging	1.00
Z1177:Hk3	UTSW	13	55010710	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GTAGTAGCTTTCCGCTCACTGACC -3'
(R):5'- ACCATCTCTGAGGCCCTTTTCAATG -3'

Sequencing Primer
(F):5'- CAAGCCTGTCTGGTGACAAG -3'
(R):5'- CAATGGCCCTCTCAGACTC -3'

Posted On

2013-07-30