Mutagenetix > Incidental Mutation

Incidental Mutation 'R1940:Hk3'

213954

Institutional Source

Beutler Lab

Gene Symbol

Hk3

Ensembl Gene

ENSMUSG00000025877

Gene Name

hexokinase 3

Synonyms

MMRRC Submission

039958-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R1940 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

55005985-55021385 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55011391 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 451 (V451I)

Ref Sequence

ENSEMBL: ENSMUSP00000123233 (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: V451I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877
AA Change: V451I

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: ENSMUST00000123097

SMART Domains

Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877

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: V451I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877
AA Change: V451I

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 benign
Transcript: ENSMUST00000153665
AA Change: V396I

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877
AA Change: V396I

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

0.3333

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.8%
20x: 93.7%

Validation Efficiency

98% (108/110)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,433,609 (GRCm38)		probably benign	Het
Ace2	A	T	X: 164,156,528 (GRCm38)	M123L	possibly damaging	Het
Acvr1c	A	T	2: 58,283,505 (GRCm38)	N248K	probably damaging	Het
Adam24	A	T	8: 40,681,361 (GRCm38)	R623*	probably null	Het
Agbl2	T	A	2: 90,811,282 (GRCm38)	L752Q	probably damaging	Het
Ankrd26	A	T	6: 118,511,693 (GRCm38)	F1335Y	probably damaging	Het
Ankrd34a	A	G	3: 96,598,676 (GRCm38)	S399G	probably benign	Het
Aoc1l3	A	T	6: 48,990,073 (GRCm38)	K652*	probably null	Het
Ap3d1	G	A	10: 80,709,773 (GRCm38)	P1041S	probably benign	Het
Arid3b	A	T	9: 57,796,148 (GRCm38)	M466K	possibly damaging	Het
Arsj	T	C	3: 126,438,346 (GRCm38)	I247T	probably damaging	Het
AU016765	G	A	17: 64,519,878 (GRCm38)		noncoding transcript	Het
Azin2	C	T	4: 128,950,784 (GRCm38)		probably null	Het
Bcat2	T	C	7: 45,588,368 (GRCm38)	Y313H	possibly damaging	Het
Cables2	A	G	2: 180,260,080 (GRCm38)	V465A	probably damaging	Het
Ccdc60	G	A	5: 116,126,165 (GRCm38)	H517Y	probably damaging	Het
Cd55b	A	T	1: 130,418,106 (GRCm38)		probably null	Het
Cdc40	G	A	10: 40,883,071 (GRCm38)		probably benign	Het
Cdh7	G	A	1: 110,049,024 (GRCm38)	V140I	probably benign	Het
Cdhr18	A	T	14: 13,828,582 (GRCm38)	M726K	probably null	Het
Cfi	T	C	3: 129,858,828 (GRCm38)		probably benign	Het
Chit1	G	A	1: 134,145,418 (GRCm38)		probably null	Het
Chn1	A	G	2: 73,624,901 (GRCm38)	C39R	probably damaging	Het
Ciao1	A	G	2: 127,246,460 (GRCm38)	S148P	possibly damaging	Het
Clmn	G	A	12: 104,790,102 (GRCm38)	T163I	probably damaging	Het
Cngb1	C	A	8: 95,299,692 (GRCm38)	G154W	probably damaging	Het
Col19a1	A	T	1: 24,264,750 (GRCm38)	C1117*	probably null	Het
Cplane1	T	A	15: 8,233,852 (GRCm38)	S2496R	probably damaging	Het
Cyp2d10	T	A	15: 82,405,294 (GRCm38)	I206F	probably benign	Het
Ddrgk1	G	T	2: 130,663,560 (GRCm38)		probably benign	Het
Ddx18	A	T	1: 121,555,224 (GRCm38)	V611D	probably damaging	Het
Dnah8	A	T	17: 30,731,207 (GRCm38)	H2000L	probably damaging	Het
Duox1	T	C	2: 122,325,984 (GRCm38)	V464A	probably benign	Het
Dync2h1	A	G	9: 7,139,159 (GRCm38)		probably null	Het
Eif4enif1	A	G	11: 3,243,279 (GRCm38)	H857R	probably damaging	Het
Elmo2	A	G	2: 165,292,050 (GRCm38)		probably benign	Het
Fam171b	CCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGC	2: 83,812,874 (GRCm38)		probably benign	Het
Glrx	A	G	13: 75,840,137 (GRCm38)	I57V	probably benign	Het
Golm1	A	T	13: 59,642,237 (GRCm38)		probably benign	Het
Grm3	G	A	5: 9,511,682 (GRCm38)	R723W	probably damaging	Het
Gsta3	G	A	1: 21,257,377 (GRCm38)	R45Q	probably benign	Het
Gtf3c3	A	C	1: 54,428,958 (GRCm38)		probably benign	Het
Hoxa10	C	A	6: 52,234,370 (GRCm38)	G189C	possibly damaging	Het
Hs3st3b1	T	C	11: 63,889,743 (GRCm38)	D186G	probably benign	Het
Hscb	G	T	5: 110,836,060 (GRCm38)	H63N	probably benign	Het
Itpr3	A	G	17: 27,111,217 (GRCm38)	E1603G	probably damaging	Het
Ivl	T	A	3: 92,572,749 (GRCm38)	H3L	probably benign	Het
Klhl26	C	A	8: 70,452,261 (GRCm38)	R252L	probably damaging	Het
Krt31	T	A	11: 100,048,243 (GRCm38)	T251S	probably benign	Het
Lama5	T	C	2: 180,190,921 (GRCm38)	N1646S	probably benign	Het
Lhx3	T	C	2: 26,203,962 (GRCm38)	D83G	probably benign	Het
Lss	C	A	10: 76,545,462 (GRCm38)	N427K	possibly damaging	Het
Mettl24	G	A	10: 40,737,726 (GRCm38)	A154T	probably benign	Het
Mgat4a	A	T	1: 37,536,037 (GRCm38)		probably null	Het
Moxd2	C	T	6: 40,883,532 (GRCm38)	R326Q	probably damaging	Het
Mpdz	G	A	4: 81,361,443 (GRCm38)	A669V	probably benign	Het
Msra	G	A	14: 64,285,056 (GRCm38)		probably benign	Het
Muc13	A	T	16: 33,807,911 (GRCm38)	T344S	probably benign	Het
Myo3b	T	C	2: 70,258,075 (GRCm38)	I866T	probably benign	Het
Nbea	T	C	3: 55,953,100 (GRCm38)	S1852G	possibly damaging	Het
Ncf2	A	G	1: 152,834,064 (GRCm38)		probably benign	Het
Nfyc	C	A	4: 120,773,664 (GRCm38)		probably benign	Het
Nop2	T	C	6: 125,134,634 (GRCm38)	V110A	probably benign	Het
Nrg2	C	A	18: 36,196,844 (GRCm38)		probably benign	Het
Nrl	A	G	14: 55,522,435 (GRCm38)	Y12H	probably damaging	Het
Nrxn3	T	C	12: 89,260,381 (GRCm38)	V635A	probably damaging	Het
Or4d11	A	C	19: 12,035,911 (GRCm38)	V277G	probably benign	Het
Or6b2b	T	A	1: 92,491,735 (GRCm38)	T7S	probably benign	Het
Or8k41	T	A	2: 86,483,359 (GRCm38)	K128*	probably null	Het
Or9g8	T	A	2: 85,777,171 (GRCm38)	S196T	probably benign	Het
Papolg	A	T	11: 23,867,279 (GRCm38)	N639K	probably benign	Het
Paqr4	T	C	17: 23,737,664 (GRCm38)	I242V	probably damaging	Het
Pramel6	A	T	2: 87,508,732 (GRCm38)	K92M	probably damaging	Het
Prg4	T	C	1: 150,456,023 (GRCm38)	T300A	possibly damaging	Het
Ptprb	A	T	10: 116,319,610 (GRCm38)		probably benign	Het
Rab28	A	T	5: 41,625,790 (GRCm38)	S216T	probably benign	Het
Rrp1b	A	T	17: 32,056,845 (GRCm38)	R455S	possibly damaging	Het
Sash1	A	T	10: 8,729,932 (GRCm38)	M898K	probably benign	Het
Scn8a	C	T	15: 100,970,204 (GRCm38)	T310I	probably benign	Het
Secisbp2l	C	A	2: 125,740,339 (GRCm38)	D1066Y	probably damaging	Het
Sipa1l2	A	G	8: 125,480,148 (GRCm38)		probably benign	Het
Slc12a1	A	G	2: 125,194,193 (GRCm38)	T662A	probably benign	Het
Slc12a4	T	C	8: 105,946,037 (GRCm38)	I749V	probably benign	Het
Slc22a27	A	G	19: 7,909,727 (GRCm38)	S266P	probably damaging	Het
Slc25a14	G	A	X: 48,651,963 (GRCm38)	V210I	probably benign	Het
Slit1	T	A	19: 41,630,776 (GRCm38)	N762I	probably damaging	Het
Spata31d1b	C	A	13: 59,718,021 (GRCm38)	D994E	possibly damaging	Het
Sphk1	A	G	11: 116,535,850 (GRCm38)	I204V	probably benign	Het
Srsf6	C	T	2: 162,934,483 (GRCm38)		probably benign	Het
Tet2	T	C	3: 133,488,638 (GRCm38)	T12A	possibly damaging	Het
Tgfbi	A	T	13: 56,614,314 (GRCm38)	Q70L	possibly damaging	Het
Tlr9	T	C	9: 106,224,647 (GRCm38)	L379P	probably damaging	Het
Tnrc6c	A	G	11: 117,756,023 (GRCm38)	D1450G	possibly damaging	Het
Tra2b	A	G	16: 22,255,045 (GRCm38)		probably benign	Het
Trit1	T	C	4: 123,054,240 (GRCm38)	I451T	probably benign	Het
Trnau1ap	A	G	4: 132,321,803 (GRCm38)	Y30H	probably damaging	Het
Ttc34	G	A	4: 154,865,682 (GRCm38)	A1031T	possibly damaging	Het
Ubiad1	A	G	4: 148,444,011 (GRCm38)	L147P	probably damaging	Het
Ush2a	A	G	1: 188,951,561 (GRCm38)	D4979G	probably null	Het
Usp50	C	T	2: 126,778,023 (GRCm38)	R123Q	probably benign	Het
Vmn2r117	A	T	17: 23,477,480 (GRCm38)	Y318N	probably damaging	Het
Whamm	C	T	7: 81,578,299 (GRCm38)	T304I	probably null	Het
Wipf2	C	T	11: 98,892,410 (GRCm38)	R221*	probably null	Het
Ythdf3	A	G	3: 16,205,092 (GRCm38)	N468D	possibly damaging	Het
Zbtb17	T	C	4: 141,465,548 (GRCm38)	I486T	possibly damaging	Het
Zfp3	T	C	11: 70,771,376 (GRCm38)	S54P	probably benign	Het
Zscan10	A	T	17: 23,609,852 (GRCm38)	H379L	probably damaging	Het

Other mutations in Hk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Hk3	APN	13	55,014,426 (GRCm38)	critical splice donor site	probably null
IGL01314:Hk3	APN	13	55,007,063 (GRCm38)	splice site	probably benign
IGL02043:Hk3	APN	13	55,015,095 (GRCm38)	missense	probably damaging	1.00
IGL02197:Hk3	APN	13	55,014,468 (GRCm38)	missense	probably damaging	1.00
IGL02619:Hk3	APN	13	55,014,294 (GRCm38)	missense	probably damaging	1.00
R0454:Hk3	UTSW	13	55,008,705 (GRCm38)	missense	probably damaging	1.00
R0518:Hk3	UTSW	13	55,014,426 (GRCm38)	critical splice donor site	probably null
R0521:Hk3	UTSW	13	55,014,426 (GRCm38)	critical splice donor site	probably null
R0709:Hk3	UTSW	13	55,014,730 (GRCm38)	missense	probably damaging	1.00
R1386:Hk3	UTSW	13	55,007,030 (GRCm38)	splice site	probably null
R1567:Hk3	UTSW	13	55,006,605 (GRCm38)	missense	probably damaging	1.00
R1647:Hk3	UTSW	13	55,014,461 (GRCm38)	missense	probably damaging	1.00
R1648:Hk3	UTSW	13	55,014,461 (GRCm38)	missense	probably damaging	1.00
R1663:Hk3	UTSW	13	55,006,575 (GRCm38)	missense	probably benign	0.00
R1936:Hk3	UTSW	13	55,011,391 (GRCm38)	missense	probably damaging	0.98
R1966:Hk3	UTSW	13	55,014,455 (GRCm38)	missense	probably damaging	1.00
R2345:Hk3	UTSW	13	55,008,993 (GRCm38)	missense	probably damaging	1.00
R4838:Hk3	UTSW	13	55,006,418 (GRCm38)	missense	probably damaging	1.00
R4852:Hk3	UTSW	13	55,012,596 (GRCm38)	missense	probably damaging	0.99
R4883:Hk3	UTSW	13	55,010,922 (GRCm38)	missense	probably benign	0.04
R4888:Hk3	UTSW	13	55,006,592 (GRCm38)	missense	probably damaging	1.00
R5100:Hk3	UTSW	13	55,009,030 (GRCm38)	missense	probably damaging	1.00
R5253:Hk3	UTSW	13	55,011,011 (GRCm38)	missense	probably damaging	1.00
R5328:Hk3	UTSW	13	55,013,493 (GRCm38)	missense	probably benign	0.00
R5441:Hk3	UTSW	13	55,015,056 (GRCm38)	missense	probably damaging	1.00
R5493:Hk3	UTSW	13	55,011,171 (GRCm38)	missense	probably damaging	1.00
R5557:Hk3	UTSW	13	55,012,075 (GRCm38)	nonsense	probably null
R5575:Hk3	UTSW	13	55,014,770 (GRCm38)	missense	probably damaging	0.99
R5578:Hk3	UTSW	13	55,012,181 (GRCm38)	missense	probably damaging	1.00
R5686:Hk3	UTSW	13	55,006,813 (GRCm38)	missense	probably damaging	1.00
R5872:Hk3	UTSW	13	55,010,804 (GRCm38)	missense	probably damaging	1.00
R6038:Hk3	UTSW	13	55,006,560 (GRCm38)	missense	probably benign	0.13
R6038:Hk3	UTSW	13	55,006,560 (GRCm38)	missense	probably benign	0.13
R6314:Hk3	UTSW	13	55,013,580 (GRCm38)	missense	probably benign	0.02
R6315:Hk3	UTSW	13	55,011,157 (GRCm38)	missense	probably benign	0.03
R6797:Hk3	UTSW	13	55,010,831 (GRCm38)	splice site	probably null
R6827:Hk3	UTSW	13	55,011,352 (GRCm38)	missense	probably damaging	0.98
R6860:Hk3	UTSW	13	55,014,465 (GRCm38)	missense	probably damaging	0.98
R7082:Hk3	UTSW	13	55,006,897 (GRCm38)	missense	probably benign	0.40
R7227:Hk3	UTSW	13	55,012,240 (GRCm38)	missense	probably benign	0.00
R7564:Hk3	UTSW	13	55,011,396 (GRCm38)	missense	probably damaging	1.00
R8274:Hk3	UTSW	13	55,011,417 (GRCm38)	missense	possibly damaging	0.95
R9704:Hk3	UTSW	13	55,012,440 (GRCm38)	critical splice donor site	probably null
X0003:Hk3	UTSW	13	55,007,136 (GRCm38)	missense	probably benign	0.01
Z1177:Hk3	UTSW	13	55,010,710 (GRCm38)	missense	probably damaging	0.96
Z1177:Hk3	UTSW	13	55,010,708 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATCATGGCTTCCCGCATTTG -3'
(R):5'- GTACCAATGAACAGGTTTAGGAC -3'

Sequencing Primer
(F):5'- GCATTTGTGCCTGCACCAC -3'
(R):5'- CCTTATCTGGCATCAATGGGAG -3'

Posted On

2014-07-14