Mutagenetix > Incidental Mutation

Incidental Mutation 'R5328:Hk3'

422169

Institutional Source

Beutler Lab

Gene Symbol

Hk3

Ensembl Gene

ENSMUSG00000025877

Gene Name

hexokinase 3

Synonyms

MMRRC Submission

042843-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5328 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55153798-55169198 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55161306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 185 (I185V)

Ref Sequence

ENSEMBL: ENSMUSP00000115227 (fasta)

Gene Model

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

AlphaFold

Q3TRM8

Predicted Effect

probably benign
Transcript: ENSMUST00000052949
AA Change: I240V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877
AA Change: I240V

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
AA Change: I240V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877
AA Change: I240V

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 benign
Transcript: ENSMUST00000126234
AA Change: I240V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877
AA Change: I240V

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: I185V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877
AA Change: I185V

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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. 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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,887,694 (GRCm39)	V860E	possibly damaging	Het
Abcc6	T	C	7: 45,641,735 (GRCm39)	D881G	probably benign	Het
Abcc9	A	G	6: 142,627,785 (GRCm39)	V415A	probably benign	Het
Adgrb3	A	C	1: 25,133,356 (GRCm39)	N1003K	possibly damaging	Het
Adora3	C	T	3: 105,814,619 (GRCm39)	T123I	probably benign	Het
Amotl2	A	C	9: 102,600,967 (GRCm39)	T345P	probably benign	Het
Arap3	C	T	18: 38,124,740 (GRCm39)	E247K	possibly damaging	Het
Atp8b1	A	T	18: 64,664,462 (GRCm39)	D1235E	probably benign	Het
Axl	A	T	7: 25,472,836 (GRCm39)	V400E	probably damaging	Het
Brd8	T	A	18: 34,741,034 (GRCm39)	N431Y	probably benign	Het
Cadps	A	T	14: 12,457,790 (GRCm38)	N1025K	probably benign	Het
Cblc	A	T	7: 19,526,505 (GRCm39)	S195T	possibly damaging	Het
Chd2	C	T	7: 73,113,429 (GRCm39)	A1184T	possibly damaging	Het
Chst10	G	A	1: 38,935,043 (GRCm39)		probably benign	Het
Col12a1	T	C	9: 79,527,342 (GRCm39)	K2663E	probably damaging	Het
Cspg4	A	T	9: 56,793,140 (GRCm39)	I292L	probably benign	Het
Cul1	T	C	6: 47,485,251 (GRCm39)	V294A	probably damaging	Het
Cyp2d11	G	A	15: 82,275,972 (GRCm39)	P203L	probably benign	Het
Dnaaf10	C	A	11: 17,172,220 (GRCm39)	P103Q	probably damaging	Het
Dscam	T	C	16: 96,474,878 (GRCm39)	H1228R	probably benign	Het
Eif3l	A	T	15: 78,977,561 (GRCm39)	K534*	probably null	Het
Enpep	T	C	3: 129,074,159 (GRCm39)	E796G	probably benign	Het
Ext1	C	A	15: 52,939,213 (GRCm39)	W612L	probably damaging	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Fam117a	T	A	11: 95,254,996 (GRCm39)		probably null	Het
Fan1	A	T	7: 64,004,217 (GRCm39)	Y750N	probably damaging	Het
Fat4	T	A	3: 39,011,017 (GRCm39)	I2039N	probably damaging	Het
Gabrr2	G	T	4: 33,082,565 (GRCm39)	D106Y	probably damaging	Het
Gak	A	C	5: 108,764,867 (GRCm39)	C145G	possibly damaging	Het
Galnt14	A	T	17: 73,812,454 (GRCm39)	N406K	possibly damaging	Het
Gm10439	T	G	X: 148,419,159 (GRCm39)	*434E	probably null	Het
Gm10837	G	T	14: 122,728,190 (GRCm39)	R22L	unknown	Het
Gm19965	T	A	1: 116,749,148 (GRCm39)	H276Q	possibly damaging	Het
Gm43517	T	C	12: 49,437,939 (GRCm39)		probably benign	Het
Greb1l	A	T	18: 10,553,720 (GRCm39)	I1574F	probably damaging	Het
Gzme	G	A	14: 56,355,224 (GRCm39)	H236Y	probably benign	Het
Heatr5b	G	A	17: 79,133,791 (GRCm39)	T266I	possibly damaging	Het
Hnrnpr	A	G	4: 136,066,527 (GRCm39)	E302G	probably benign	Het
Itgal	T	C	7: 126,910,847 (GRCm39)		probably null	Het
Itk	A	G	11: 46,222,703 (GRCm39)	S583P	probably benign	Het
Loxhd1	A	T	18: 77,498,268 (GRCm39)	I1448F	probably damaging	Het
Macf1	GCCCCC	GCCCCCC	4: 123,244,784 (GRCm39)		probably null	Het
Man2a2	A	T	7: 80,018,504 (GRCm39)	F118L	probably benign	Het
Mfsd5	T	A	15: 102,189,447 (GRCm39)	V273E	probably damaging	Het
Nfe2l2	A	G	2: 75,507,200 (GRCm39)	L300P	probably damaging	Het
Nt5c1a	T	G	4: 123,102,786 (GRCm39)	L122R	possibly damaging	Het
Nt5c3b	A	G	11: 100,331,067 (GRCm39)	F42S	probably damaging	Het
Or2av9	C	A	11: 58,381,255 (GRCm39)	A109S	possibly damaging	Het
Or51g2	T	A	7: 102,623,175 (GRCm39)	N8I	possibly damaging	Het
Pabpc1	A	T	15: 36,603,121 (GRCm39)	D204E	probably benign	Het
Panx2	A	G	15: 88,952,298 (GRCm39)	N255S	probably damaging	Het
Pcnt	A	G	10: 76,247,553 (GRCm39)	L993P	probably damaging	Het
Pfas	A	T	11: 68,879,418 (GRCm39)	C1160S	probably damaging	Het
Plekhh3	T	A	11: 101,058,484 (GRCm39)		probably benign	Het
Plod3	T	A	5: 137,018,537 (GRCm39)	N258K	probably damaging	Het
Prr14l	T	C	5: 32,987,365 (GRCm39)	Q710R	probably benign	Het
Rnf216	G	T	5: 143,078,754 (GRCm39)	T65K	possibly damaging	Het
Samd9l	T	C	6: 3,376,739 (GRCm39)	E174G	probably damaging	Het
Septin12	T	A	16: 4,811,857 (GRCm39)	M63L	possibly damaging	Het
Sh3bgrl2	T	A	9: 83,459,509 (GRCm39)	D22E	probably benign	Het
Sirpd	T	C	3: 15,397,234 (GRCm39)	M17V	unknown	Het
Skil	A	G	3: 31,171,718 (GRCm39)	K488R	probably benign	Het
Slamf6	T	A	1: 171,765,662 (GRCm39)	I262K	probably benign	Het
Slc27a3	T	C	3: 90,294,139 (GRCm39)	D470G	probably damaging	Het
Sorbs3	A	T	14: 70,418,623 (GRCm39)	V680E	probably damaging	Het
Sox9	C	T	11: 112,673,484 (GRCm39)	T25I	probably benign	Het
Srsf1	G	T	11: 87,940,819 (GRCm39)		probably benign	Het
Stard9	A	C	2: 120,529,711 (GRCm39)	E1989D	probably damaging	Het
Thumpd2	T	A	17: 81,351,591 (GRCm39)	I277F	possibly damaging	Het
Tinag	C	A	9: 76,912,913 (GRCm39)	G299*	probably null	Het
Tk2	A	T	8: 104,955,931 (GRCm39)		probably null	Het
Tmem44	A	G	16: 30,359,709 (GRCm39)	S210P	possibly damaging	Het
Traf3ip1	C	A	1: 91,447,791 (GRCm39)	P423T	probably damaging	Het
Trmt12	A	G	15: 58,744,704 (GRCm39)	D34G	probably damaging	Het
Ttc39b	A	G	4: 83,180,178 (GRCm39)	Y72H	probably damaging	Het
Ttn	G	A	2: 76,708,755 (GRCm39)		probably benign	Het
Ttyh2	T	A	11: 114,600,894 (GRCm39)	I381N	possibly damaging	Het
Uaca	A	T	9: 60,777,814 (GRCm39)	N734Y	probably benign	Het
Usp34	T	C	11: 23,414,616 (GRCm39)	I2853T	probably benign	Het
Usp34	G	A	11: 23,438,659 (GRCm39)	G3407D	probably benign	Het
Vmn2r78	A	G	7: 86,570,238 (GRCm39)	Y252C	probably damaging	Het
Wdr19	G	A	5: 65,401,522 (GRCm39)	C979Y	probably damaging	Het
Yeats2	A	T	16: 19,989,955 (GRCm39)	H277L	probably damaging	Het
Zbtb2	T	C	10: 4,319,267 (GRCm39)	Y253C	possibly damaging	Het
Zfat	C	A	15: 68,051,677 (GRCm39)	G706C	probably damaging	Het
Zfp106	A	T	2: 120,350,898 (GRCm39)	N1584K	possibly damaging	Het

Other mutations in Hk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Hk3	APN	13	55,162,239 (GRCm39)	critical splice donor site	probably null
IGL01314:Hk3	APN	13	55,154,876 (GRCm39)	splice site	probably benign
IGL02043:Hk3	APN	13	55,162,908 (GRCm39)	missense	probably damaging	1.00
IGL02197:Hk3	APN	13	55,162,281 (GRCm39)	missense	probably damaging	1.00
IGL02619:Hk3	APN	13	55,162,107 (GRCm39)	missense	probably damaging	1.00
R0454:Hk3	UTSW	13	55,156,518 (GRCm39)	missense	probably damaging	1.00
R0518:Hk3	UTSW	13	55,162,239 (GRCm39)	critical splice donor site	probably null
R0521:Hk3	UTSW	13	55,162,239 (GRCm39)	critical splice donor site	probably null
R0709:Hk3	UTSW	13	55,162,543 (GRCm39)	missense	probably damaging	1.00
R1386:Hk3	UTSW	13	55,154,843 (GRCm39)	splice site	probably null
R1567:Hk3	UTSW	13	55,154,418 (GRCm39)	missense	probably damaging	1.00
R1647:Hk3	UTSW	13	55,162,274 (GRCm39)	missense	probably damaging	1.00
R1648:Hk3	UTSW	13	55,162,274 (GRCm39)	missense	probably damaging	1.00
R1663:Hk3	UTSW	13	55,154,388 (GRCm39)	missense	probably benign	0.00
R1936:Hk3	UTSW	13	55,159,204 (GRCm39)	missense	probably damaging	0.98
R1940:Hk3	UTSW	13	55,159,204 (GRCm39)	missense	probably damaging	0.98
R1966:Hk3	UTSW	13	55,162,268 (GRCm39)	missense	probably damaging	1.00
R2345:Hk3	UTSW	13	55,156,806 (GRCm39)	missense	probably damaging	1.00
R4838:Hk3	UTSW	13	55,154,231 (GRCm39)	missense	probably damaging	1.00
R4852:Hk3	UTSW	13	55,160,409 (GRCm39)	missense	probably damaging	0.99
R4883:Hk3	UTSW	13	55,158,735 (GRCm39)	missense	probably benign	0.04
R4888:Hk3	UTSW	13	55,154,405 (GRCm39)	missense	probably damaging	1.00
R5100:Hk3	UTSW	13	55,156,843 (GRCm39)	missense	probably damaging	1.00
R5253:Hk3	UTSW	13	55,158,824 (GRCm39)	missense	probably damaging	1.00
R5441:Hk3	UTSW	13	55,162,869 (GRCm39)	missense	probably damaging	1.00
R5493:Hk3	UTSW	13	55,158,984 (GRCm39)	missense	probably damaging	1.00
R5557:Hk3	UTSW	13	55,159,888 (GRCm39)	nonsense	probably null
R5575:Hk3	UTSW	13	55,162,583 (GRCm39)	missense	probably damaging	0.99
R5578:Hk3	UTSW	13	55,159,994 (GRCm39)	missense	probably damaging	1.00
R5686:Hk3	UTSW	13	55,154,626 (GRCm39)	missense	probably damaging	1.00
R5872:Hk3	UTSW	13	55,158,617 (GRCm39)	missense	probably damaging	1.00
R6038:Hk3	UTSW	13	55,154,373 (GRCm39)	missense	probably benign	0.13
R6038:Hk3	UTSW	13	55,154,373 (GRCm39)	missense	probably benign	0.13
R6314:Hk3	UTSW	13	55,161,393 (GRCm39)	missense	probably benign	0.02
R6315:Hk3	UTSW	13	55,158,970 (GRCm39)	missense	probably benign	0.03
R6797:Hk3	UTSW	13	55,158,644 (GRCm39)	splice site	probably null
R6827:Hk3	UTSW	13	55,159,165 (GRCm39)	missense	probably damaging	0.98
R6860:Hk3	UTSW	13	55,162,278 (GRCm39)	missense	probably damaging	0.98
R7082:Hk3	UTSW	13	55,154,710 (GRCm39)	missense	probably benign	0.40
R7227:Hk3	UTSW	13	55,160,053 (GRCm39)	missense	probably benign	0.00
R7564:Hk3	UTSW	13	55,159,209 (GRCm39)	missense	probably damaging	1.00
R8274:Hk3	UTSW	13	55,159,230 (GRCm39)	missense	possibly damaging	0.95
R9704:Hk3	UTSW	13	55,160,253 (GRCm39)	critical splice donor site	probably null
X0003:Hk3	UTSW	13	55,154,949 (GRCm39)	missense	probably benign	0.01
Z1177:Hk3	UTSW	13	55,158,523 (GRCm39)	missense	probably damaging	0.96
Z1177:Hk3	UTSW	13	55,158,521 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCATCTTCGTCATAGAAGGAGC -3'
(R):5'- TCAGCCATGGGACTGTCTTC -3'

Sequencing Primer
(F):5'- TTCGTCATAGAAGGAGCCCCAC -3'
(R):5'- CATGGGACTGTCTTCCAGGTC -3'

Posted On

2016-08-04