Mutagenetix > Incidental Mutation

Incidental Mutation 'R5253:Hk3'

399258

Institutional Source

Beutler Lab

Gene Symbol

Hk3

Ensembl Gene

ENSMUSG00000025877

Gene Name

hexokinase 3

Synonyms

MMRRC Submission

042824-MU

Accession Numbers

Essential gene?

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

Stock #

R5253 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55005985-55021385 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 55011011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 485 (D485A)

Ref Sequence

ENSEMBL: ENSMUSP00000115227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026994] [ENSMUST00000052949] [ENSMUST00000109994] [ENSMUST00000123097] [ENSMUST00000126234] [ENSMUST00000132309] [ENSMUST00000148221] [ENSMUST00000153665]

AlphaFold

Q3TRM8

Predicted Effect

probably benign
Transcript: ENSMUST00000026994

SMART Domains

Protein: ENSMUSP00000026994
Gene: ENSMUSG00000025876

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
SCOP:d1biha1	44	143	1e-4	SMART
IG	155	240	1.8e-5	SMART
TSP1	245	296	1.25e-14	SMART
TSP1	301	350	1.98e-8	SMART
transmembrane domain	360	382	N/A	INTRINSIC
ZU5	495	598	3.68e-58	SMART
DEATH	805	896	5.86e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000052949
AA Change: D540A

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

SMART Domains

Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877
AA Change: D540A

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 benign
Transcript: ENSMUST00000109994

SMART Domains

Protein: ENSMUSP00000105621
Gene: ENSMUSG00000025876

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
SCOP:d1biha1	44	143	1e-4	SMART
IG	155	240	1.8e-5	SMART
TSP1	245	294	1.98e-8	SMART
transmembrane domain	305	327	N/A	INTRINSIC
ZU5	439	542	3.68e-58	SMART
DEATH	749	840	5.86e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000123097
AA Change: D495A

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

SMART Domains

Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877
AA Change: D495A

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: D540A

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

SMART Domains

Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877
AA Change: D540A

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 benign
Transcript: ENSMUST00000132309

SMART Domains

Protein: ENSMUSP00000117254
Gene: ENSMUSG00000025877

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: D485A

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

SMART Domains

Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877
AA Change: D485A

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

0.9357

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

99% (72/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	T	C	9: 40,051,450		noncoding transcript	Het
Actrt2	A	C	4: 154,667,569	S37A	possibly damaging	Het
Adcy7	T	C	8: 88,314,114	I327T	probably damaging	Het
Ankrd13b	A	G	11: 77,473,235		probably benign	Het
Arap1	A	C	7: 101,388,644	I237L	probably benign	Het
Arhgap17	A	T	7: 123,303,748	Y359N	probably benign	Het
Atad1	A	G	19: 32,674,302	M343T	probably benign	Het
Cacna1b	A	T	2: 24,719,952	I392N	probably damaging	Het
Cacna1c	A	G	6: 118,597,969	S1914P	probably benign	Het
Cd300a	G	T	11: 114,894,751	R174L	probably benign	Het
Dip2a	G	A	10: 76,299,997	P356L	probably damaging	Het
Dsg1c	T	C	18: 20,272,379	L283P	probably damaging	Het
Dusp1	T	C	17: 26,508,217	N36S	probably benign	Het
Ercc3	C	A	18: 32,269,864	P776Q	probably damaging	Het
Etv1	A	G	12: 38,852,249	R260G	possibly damaging	Het
Fa2h	C	G	8: 111,349,237	M251I	probably benign	Het
Flg2	A	G	3: 93,200,812	D49G	probably damaging	Het
Fras1	A	G	5: 96,741,025	E2810G	probably damaging	Het
Fuk	T	C	8: 110,883,867	E968G	possibly damaging	Het
Gabbr1	T	C	17: 37,055,913	F343S	possibly damaging	Het
Gdf2	A	G	14: 33,945,307	T329A	probably benign	Het
Hcn4	T	A	9: 58,824,275	I255N	unknown	Het
Hook3	T	C	8: 26,072,291	T249A	probably benign	Het
Kcp	C	T	6: 29,498,520		probably benign	Het
Kifc2	G	T	15: 76,666,281	R515L	possibly damaging	Het
Kiss1r	A	G	10: 79,920,750	Y142C	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Klrb1a	T	A	6: 128,619,163	I72L	probably benign	Het
Lep	T	A	6: 29,070,863	F62Y	probably damaging	Het
Lrtm1	A	G	14: 29,021,844	T90A	probably benign	Het
Mug1	A	T	6: 121,888,913	D1472V	probably benign	Het
Ncor2	G	T	5: 125,026,930	P1988Q	probably benign	Het
Nlrp4a	C	T	7: 26,450,492	S508L	probably benign	Het
Obp2b	T	A	2: 25,737,143	D29E	probably benign	Het
Olfr1123	G	A	2: 87,418,668	V207M	possibly damaging	Het
Olfr1214	A	G	2: 88,988,100	L34P	possibly damaging	Het
Olfr1224-ps1	A	T	2: 89,156,457	C239*	probably null	Het
Olfr725	T	C	14: 50,035,288	I38M	possibly damaging	Het
Olfr803	A	G	10: 129,691,732	I103T	probably damaging	Het
Otof	A	G	5: 30,370,139	S1985P	probably damaging	Het
Oxct2a	A	T	4: 123,323,093	V165E	probably damaging	Het
Papd5	C	A	8: 88,200,023	H20Q	possibly damaging	Het
Pcdhgb7	T	C	18: 37,753,097	V440A	possibly damaging	Het
Pelp1	C	A	11: 70,401,661	G211C	probably damaging	Het
Phox2a	A	G	7: 101,822,105	H268R	probably benign	Het
Pik3c2g	T	C	6: 139,896,257		probably null	Het
Pramel1	T	A	4: 143,398,586	M360K	probably benign	Het
Rbm6	C	T	9: 107,852,657	R132K	probably damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc45a1	T	C	4: 150,638,270	T386A	probably damaging	Het
Smad2	A	G	18: 76,288,053	Y151C	probably damaging	Het
Sptbn2	G	A	19: 4,750,082	G2188D	probably benign	Het
Sugt1	G	A	14: 79,602,901		probably null	Het
Tctn3	T	C	19: 40,607,241	S367G	probably benign	Het
Tead1	G	T	7: 112,861,545	D219Y	probably damaging	Het
Tenm2	G	T	11: 36,047,201	Y1548*	probably null	Het
Tenm3	T	A	8: 48,229,198	I2466F	possibly damaging	Het
Tgm2	G	A	2: 158,129,438	P294S	probably damaging	Het
Tns2	T	C	15: 102,111,453	S585P	probably damaging	Het
Ttc41	A	G	10: 86,730,942	K491E	probably benign	Het
Ttn	G	A	2: 76,791,551	T15549I	probably damaging	Het
Vmn1r157	T	C	7: 22,761,758	L21P	probably damaging	Het
Vmn2r81	A	G	10: 79,247,986	M65V	probably benign	Het
Wdr34	T	A	2: 30,032,363		probably benign	Het
Zcchc14	T	C	8: 121,618,694		probably benign	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
R0709:Hk3	UTSW	13	55014730	missense	probably damaging	1.00
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
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'- TATGGTCAAAGAGCTGCAGG -3'
(R):5'- CTTGGAGCAGATGACAGTGG -3'

Sequencing Primer
(F):5'- CTGCAGGAGAGGGCATGTC -3'
(R):5'- CCATGATCAGGGGGCTTCAAG -3'

Posted On

2016-07-06