Incidental Mutation 'R5493:Hk3'
| ID |
432200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hk3
|
| Ensembl Gene |
ENSMUSG00000025877 |
| Gene Name |
hexokinase 3 |
| Synonyms |
|
| MMRRC Submission |
043054-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R5493 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
55153798-55169198 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55158984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 479
(V479A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116717
(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: V524A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877
AA Change: V524A
| 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: V479A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877
AA Change: V479A
| 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: V524A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877
AA Change: V524A
| 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: V469A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877
AA Change: V469A
| 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 |
0.7716 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.4%
|
| Validation Efficiency |
99% (80/81) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
A |
G |
16: 21,471,993 (GRCm39) |
S236P |
possibly damaging |
Het |
| A830018L16Rik |
C |
T |
1: 11,615,431 (GRCm39) |
R135C |
probably damaging |
Het |
| Agpat3 |
A |
G |
10: 78,120,069 (GRCm39) |
V155A |
possibly damaging |
Het |
| Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
| Aloxe3 |
A |
T |
11: 69,019,443 (GRCm39) |
R119* |
probably null |
Het |
| Asap1 |
A |
G |
15: 64,002,000 (GRCm39) |
V460A |
possibly damaging |
Het |
| Bicral |
C |
A |
17: 47,112,620 (GRCm39) |
R860L |
possibly damaging |
Het |
| Cd180 |
T |
A |
13: 102,842,649 (GRCm39) |
I565N |
probably benign |
Het |
| Cdk13 |
T |
C |
13: 17,978,147 (GRCm39) |
|
probably benign |
Het |
| Cdkn2d |
T |
C |
9: 21,200,303 (GRCm39) |
D156G |
probably benign |
Het |
| Clrn1 |
A |
G |
3: 58,753,837 (GRCm39) |
S175P |
probably damaging |
Het |
| Coro7 |
A |
G |
16: 4,450,351 (GRCm39) |
L535S |
probably damaging |
Het |
| Cse1l |
A |
G |
2: 166,783,110 (GRCm39) |
|
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 26,728,550 (GRCm39) |
L7P |
unknown |
Het |
| D130043K22Rik |
A |
G |
13: 25,047,586 (GRCm39) |
Y377C |
probably damaging |
Het |
| Dctn1 |
G |
T |
6: 83,159,546 (GRCm39) |
R8L |
possibly damaging |
Het |
| Duox2 |
T |
C |
2: 122,111,977 (GRCm39) |
Q1341R |
probably damaging |
Het |
| Eif2b3 |
A |
G |
4: 116,943,919 (GRCm39) |
D447G |
possibly damaging |
Het |
| Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
| Fbxw25 |
T |
C |
9: 109,481,984 (GRCm39) |
Y234C |
probably benign |
Het |
| Gcnt2 |
A |
G |
13: 41,107,076 (GRCm39) |
N315S |
possibly damaging |
Het |
| Gm20730 |
A |
T |
6: 43,058,746 (GRCm39) |
V22E |
possibly damaging |
Het |
| Gm4847 |
T |
A |
1: 166,457,890 (GRCm39) |
I488F |
probably damaging |
Het |
| Gmds |
A |
T |
13: 32,124,488 (GRCm39) |
M290K |
probably benign |
Het |
| Gtf3c1 |
T |
C |
7: 125,269,716 (GRCm39) |
N699S |
probably damaging |
Het |
| Ifnlr1 |
G |
A |
4: 135,432,877 (GRCm39) |
V438M |
probably benign |
Het |
| Il12rb1 |
C |
A |
8: 71,262,483 (GRCm39) |
P26T |
probably benign |
Het |
| Il4i1 |
G |
T |
7: 44,489,477 (GRCm39) |
R414L |
possibly damaging |
Het |
| Ipo4 |
T |
C |
14: 55,868,327 (GRCm39) |
N490S |
probably benign |
Het |
| Kcnmb2 |
A |
G |
3: 32,252,291 (GRCm39) |
E164G |
probably damaging |
Het |
| Kcns1 |
G |
A |
2: 164,009,899 (GRCm39) |
L287F |
probably benign |
Het |
| Kdm1a |
ACC |
AC |
4: 136,284,732 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,899,211 (GRCm39) |
I304K |
probably damaging |
Het |
| Ksr2 |
G |
T |
5: 117,846,175 (GRCm39) |
V681F |
probably damaging |
Het |
| Lypd2 |
T |
C |
15: 74,606,127 (GRCm39) |
T4A |
probably benign |
Het |
| Man1a |
A |
G |
10: 53,950,576 (GRCm39) |
V182A |
probably benign |
Het |
| Or12j4 |
A |
T |
7: 140,046,720 (GRCm39) |
D202V |
probably damaging |
Het |
| Or13e8 |
A |
G |
4: 43,696,225 (GRCm39) |
F316S |
possibly damaging |
Het |
| Or2w2 |
A |
T |
13: 21,758,042 (GRCm39) |
C195S |
probably damaging |
Het |
| Or51f5 |
A |
T |
7: 102,424,315 (GRCm39) |
R195W |
probably benign |
Het |
| Or56b1b |
T |
C |
7: 108,164,774 (GRCm39) |
D76G |
probably benign |
Het |
| Pcdha2 |
C |
A |
18: 37,072,562 (GRCm39) |
F64L |
probably damaging |
Het |
| Pgap3 |
G |
C |
11: 98,281,540 (GRCm39) |
F168L |
possibly damaging |
Het |
| Pip5k1b |
T |
C |
19: 24,416,439 (GRCm39) |
N16S |
probably benign |
Het |
| Ppip5k1 |
T |
A |
2: 121,167,253 (GRCm39) |
H41L |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,159,702 (GRCm39) |
R1080G |
probably damaging |
Het |
| Qrich2 |
A |
C |
11: 116,336,774 (GRCm39) |
|
probably null |
Het |
| Rbl2 |
C |
T |
8: 91,842,447 (GRCm39) |
P1034L |
probably damaging |
Het |
| Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
| Rin2 |
A |
G |
2: 145,702,629 (GRCm39) |
S442G |
probably damaging |
Het |
| Rtca |
C |
T |
3: 116,293,280 (GRCm39) |
R71Q |
probably benign |
Het |
| Serpind1 |
A |
T |
16: 17,157,902 (GRCm39) |
N366I |
probably damaging |
Het |
| Shox2 |
C |
G |
3: 66,888,796 (GRCm39) |
G32R |
probably damaging |
Het |
| Sp3 |
T |
A |
2: 72,768,466 (GRCm39) |
N766Y |
probably damaging |
Het |
| Spag7 |
T |
A |
11: 70,560,059 (GRCm39) |
S17C |
probably null |
Het |
| Stk25 |
A |
T |
1: 93,563,031 (GRCm39) |
F7I |
probably benign |
Het |
| Tbx15 |
G |
A |
3: 99,259,880 (GRCm39) |
G584S |
probably benign |
Het |
| Tenm2 |
T |
C |
11: 36,755,503 (GRCm39) |
D165G |
probably benign |
Het |
| Tox2 |
C |
A |
2: 163,046,649 (GRCm39) |
S42* |
probably null |
Het |
| Vmn1r39 |
A |
G |
6: 66,781,754 (GRCm39) |
V188A |
probably damaging |
Het |
| Zbtb5 |
A |
T |
4: 44,993,941 (GRCm39) |
M481K |
probably benign |
Het |
| Zfp26 |
T |
C |
9: 20,355,615 (GRCm39) |
T56A |
possibly damaging |
Het |
| Zfp459 |
C |
A |
13: 67,556,498 (GRCm39) |
C195F |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfp764 |
A |
G |
7: 127,004,105 (GRCm39) |
I342T |
probably benign |
Het |
| Zfp942 |
T |
C |
17: 22,151,985 (GRCm39) |
N7D |
probably null |
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 |
|
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'- AGACCTGGTTGATGATCTGC -3'
(R):5'- TGTGGCAATGGTGACAGCTG -3'
Sequencing Primer
(F):5'- GGTTGATGATCTGCACACTGCC -3'
(R):5'- CATTTCAGCTGACCTTGG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation