Incidental Mutation 'R7564:Hk3'
ID |
585327 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hk3
|
Ensembl Gene |
ENSMUSG00000025877 |
Gene Name |
hexokinase 3 |
Synonyms |
|
MMRRC Submission |
045656-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R7564 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
55153798-55169198 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 55159209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 449
(C449F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051215
(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: C449F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000051215 Gene: ENSMUSG00000025877 AA Change: C449F
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: C449F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000123233 Gene: ENSMUSG00000025877 AA Change: C449F
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 |
probably benign
Transcript: ENSMUST00000148221
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000153665
AA Change: C394F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000115227 Gene: ENSMUSG00000025877 AA Change: C394F
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 |
0.4426 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
Validation Efficiency |
98% (56/57) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad11 |
G |
A |
9: 104,000,288 (GRCm39) |
E681K |
possibly damaging |
Het |
Accsl |
A |
T |
2: 93,688,501 (GRCm39) |
M411K |
possibly damaging |
Het |
Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
Bag4 |
G |
A |
8: 26,267,507 (GRCm39) |
R108* |
probably null |
Het |
Cpa1 |
C |
T |
6: 30,641,767 (GRCm39) |
T197M |
probably damaging |
Het |
Cyb561d2 |
A |
G |
9: 107,418,218 (GRCm39) |
V50A |
probably benign |
Het |
Dact1 |
A |
G |
12: 71,365,325 (GRCm39) |
D665G |
probably damaging |
Het |
Dcaf4 |
G |
A |
12: 83,588,297 (GRCm39) |
V499I |
probably damaging |
Het |
Depdc5 |
T |
G |
5: 33,058,854 (GRCm39) |
I274M |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,570,817 (GRCm39) |
Q2219L |
probably benign |
Het |
Ect2 |
A |
T |
3: 27,170,272 (GRCm39) |
|
probably benign |
Het |
Efcab14 |
C |
A |
4: 115,617,159 (GRCm39) |
S289R |
probably benign |
Het |
Fmn2 |
T |
C |
1: 174,437,140 (GRCm39) |
L1037P |
unknown |
Het |
Fsip2 |
G |
A |
2: 82,819,361 (GRCm39) |
M5031I |
probably benign |
Het |
Gm19410 |
A |
G |
8: 36,274,151 (GRCm39) |
M1435V |
probably benign |
Het |
Gm8005 |
G |
T |
14: 42,261,499 (GRCm39) |
Q44K |
|
Het |
Hdgfl2 |
T |
A |
17: 56,406,860 (GRCm39) |
D591E |
unknown |
Het |
Hmcn1 |
T |
C |
1: 150,531,586 (GRCm39) |
M3228V |
probably benign |
Het |
Kifap3 |
C |
T |
1: 163,743,337 (GRCm39) |
R773C |
probably damaging |
Het |
Kndc1 |
T |
C |
7: 139,500,612 (GRCm39) |
V659A |
probably benign |
Het |
Lhb |
C |
T |
7: 45,071,101 (GRCm39) |
R109C |
probably damaging |
Het |
Lnpep |
A |
G |
17: 17,798,854 (GRCm39) |
I267T |
probably benign |
Het |
Lypla1 |
T |
A |
1: 4,878,590 (GRCm39) |
|
probably null |
Het |
Map3k21 |
T |
C |
8: 126,654,447 (GRCm39) |
|
probably null |
Het |
Mapkbp1 |
A |
G |
2: 119,844,232 (GRCm39) |
T319A |
probably benign |
Het |
Mms19 |
T |
C |
19: 41,935,455 (GRCm39) |
T854A |
probably benign |
Het |
Mphosph8 |
A |
G |
14: 56,911,495 (GRCm39) |
T173A |
probably benign |
Het |
Mtcl1 |
C |
T |
17: 66,678,322 (GRCm39) |
R668H |
probably benign |
Het |
Myo5b |
G |
A |
18: 74,767,582 (GRCm39) |
E297K |
possibly damaging |
Het |
Nrg2 |
A |
T |
18: 36,157,449 (GRCm39) |
L412Q |
probably damaging |
Het |
Nrtn |
T |
C |
17: 57,058,473 (GRCm39) |
D176G |
probably damaging |
Het |
Nrxn1 |
G |
T |
17: 90,670,334 (GRCm39) |
Q1134K |
possibly damaging |
Het |
Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
Or51t4 |
C |
T |
7: 102,598,473 (GRCm39) |
P267L |
probably damaging |
Het |
Pick1 |
T |
C |
15: 79,139,781 (GRCm39) |
V360A |
unknown |
Het |
Pigr |
T |
A |
1: 130,769,403 (GRCm39) |
N71K |
possibly damaging |
Het |
Ppox |
T |
C |
1: 171,107,765 (GRCm39) |
N96S |
probably benign |
Het |
Pramel29 |
C |
A |
4: 143,939,525 (GRCm39) |
C4F |
probably damaging |
Het |
Qrfprl |
G |
T |
6: 65,429,891 (GRCm39) |
E196* |
probably null |
Het |
Rasa1 |
T |
C |
13: 85,376,827 (GRCm39) |
T603A |
probably benign |
Het |
Rhd |
T |
C |
4: 134,603,770 (GRCm39) |
L97P |
probably damaging |
Het |
Sec61a2 |
T |
C |
2: 5,887,415 (GRCm39) |
I147V |
probably benign |
Het |
Sh3bp1 |
C |
T |
15: 78,795,760 (GRCm39) |
P630S |
probably damaging |
Het |
Sh3d21 |
T |
C |
4: 126,044,937 (GRCm39) |
T581A |
probably benign |
Het |
Slc36a2 |
A |
G |
11: 55,053,498 (GRCm39) |
I380T |
probably benign |
Het |
Slc36a4 |
T |
A |
9: 15,638,108 (GRCm39) |
V178D |
probably damaging |
Het |
Smad7 |
C |
A |
18: 75,526,906 (GRCm39) |
L251I |
probably benign |
Het |
Sspo |
G |
A |
6: 48,426,434 (GRCm39) |
S151N |
probably benign |
Het |
St3gal4 |
C |
T |
9: 34,963,549 (GRCm39) |
R253Q |
probably benign |
Het |
Trappc14 |
C |
A |
5: 138,261,104 (GRCm39) |
|
probably null |
Het |
Ttbk1 |
T |
C |
17: 46,787,857 (GRCm39) |
I242V |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,798,864 (GRCm39) |
A470V |
unknown |
Het |
Unc13b |
T |
C |
4: 43,091,258 (GRCm39) |
V28A |
probably damaging |
Het |
Vmn1r149 |
A |
G |
7: 22,137,530 (GRCm39) |
V42A |
possibly damaging |
Het |
Zbtb21 |
A |
T |
16: 97,752,740 (GRCm39) |
C514* |
probably null |
Het |
Zfp236 |
A |
T |
18: 82,662,366 (GRCm39) |
C570* |
probably null |
Het |
Zfp277 |
T |
A |
12: 40,379,594 (GRCm39) |
R313S |
probably damaging |
Het |
Zfp329 |
A |
T |
7: 12,544,967 (GRCm39) |
C186S |
probably damaging |
Het |
Zscan4-ps2 |
A |
G |
7: 11,248,954 (GRCm39) |
|
probably benign |
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 |
R5328:Hk3
|
UTSW |
13 |
55,161,306 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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'- CATGGCTTCCCGCATTTGTG -3'
(R):5'- GTACCAATGAACAGGTTTAGGAC -3'
Sequencing Primer
(F):5'- GCATTTGTGCCTGCACCAC -3'
(R):5'- CCTTATCTGGCATCAATGGGAG -3'
|
Posted On |
2019-10-17 |