Incidental Mutation 'R6315:Hk3'
| ID |
510611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hk3
|
| Ensembl Gene |
ENSMUSG00000025877 |
| Gene Name |
hexokinase 3 |
| Synonyms |
|
| MMRRC Submission |
044472-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R6315 (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 T
at 55158970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 484
(D484N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116717
(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: D529N
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877
AA Change: D529N
| 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: D484N
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877
AA Change: D484N
| 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: D529N
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877
AA Change: D529N
| 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: D474N
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877
AA Change: D474N
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
97% (64/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,945,315 (GRCm39) |
Y464H |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,983,990 (GRCm39) |
M1758T |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,282,837 (GRCm39) |
D1201V |
possibly damaging |
Het |
| Amdhd2 |
A |
C |
17: 24,377,330 (GRCm39) |
H203Q |
probably benign |
Het |
| Ano3 |
A |
G |
2: 110,527,384 (GRCm39) |
M608T |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| Atp8b1 |
C |
A |
18: 64,664,550 (GRCm39) |
R1206L |
probably damaging |
Het |
| B4galt5 |
A |
T |
2: 167,147,729 (GRCm39) |
N215K |
probably damaging |
Het |
| Bpifa1 |
A |
G |
2: 153,987,996 (GRCm39) |
K180E |
possibly damaging |
Het |
| Cadm1 |
C |
T |
9: 47,721,417 (GRCm39) |
T269M |
probably damaging |
Het |
| Cadm3 |
T |
C |
1: 173,171,919 (GRCm39) |
D252G |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,309,448 (GRCm39) |
R348G |
probably benign |
Het |
| Cers4 |
G |
A |
8: 4,566,980 (GRCm39) |
C94Y |
probably benign |
Het |
| Cfap58 |
G |
A |
19: 47,929,716 (GRCm39) |
R59H |
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,565,533 (GRCm39) |
G266D |
unknown |
Het |
| Col6a5 |
G |
T |
9: 105,759,169 (GRCm39) |
F2012L |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,168,588 (GRCm39) |
Q445R |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,657,643 (GRCm39) |
S238G |
probably benign |
Het |
| E130308A19Rik |
G |
A |
4: 59,691,132 (GRCm39) |
S322N |
probably benign |
Het |
| Eif5b |
A |
G |
1: 38,057,114 (GRCm39) |
D57G |
unknown |
Het |
| Fbn2 |
T |
C |
18: 58,188,025 (GRCm39) |
|
probably null |
Het |
| Fbxo38 |
A |
T |
18: 62,669,218 (GRCm39) |
C77* |
probably null |
Het |
| Fgb |
T |
A |
3: 82,952,362 (GRCm39) |
Q169L |
probably benign |
Het |
| Fut9 |
A |
T |
4: 25,619,774 (GRCm39) |
Y347N |
probably damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,862,688 (GRCm39) |
K132R |
probably damaging |
Het |
| Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,874,995 (GRCm39) |
L1833P |
probably damaging |
Het |
| Icam4 |
T |
C |
9: 20,941,248 (GRCm39) |
V129A |
probably damaging |
Het |
| Impdh2 |
T |
C |
9: 108,440,638 (GRCm39) |
S280P |
possibly damaging |
Het |
| Impg1 |
C |
A |
9: 80,301,356 (GRCm39) |
G267V |
probably benign |
Het |
| Iqgap1 |
C |
T |
7: 80,449,638 (GRCm39) |
V39M |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,818,089 (GRCm39) |
N1253S |
probably benign |
Het |
| Mgat4b |
T |
A |
11: 50,122,591 (GRCm39) |
V195E |
probably damaging |
Het |
| Mrgprb8 |
C |
T |
7: 48,038,983 (GRCm39) |
T218I |
probably damaging |
Het |
| Myrfl |
T |
G |
10: 116,658,724 (GRCm39) |
E411A |
possibly damaging |
Het |
| Myt1l |
T |
C |
12: 29,877,797 (GRCm39) |
S483P |
unknown |
Het |
| Neil2 |
A |
G |
14: 63,420,920 (GRCm39) |
V80A |
possibly damaging |
Het |
| Nfe2l2 |
G |
T |
2: 75,507,163 (GRCm39) |
D312E |
probably damaging |
Het |
| Nin |
A |
T |
12: 70,092,389 (GRCm39) |
L640Q |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,213,804 (GRCm39) |
I1732N |
probably damaging |
Het |
| Nup42 |
T |
C |
5: 24,372,502 (GRCm39) |
S97P |
probably damaging |
Het |
| Or5b114-ps1 |
T |
C |
19: 13,352,769 (GRCm39) |
C148R |
unknown |
Het |
| Or5k16 |
A |
C |
16: 58,736,609 (GRCm39) |
Y132D |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 135,188,261 (GRCm39) |
T785S |
probably benign |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Ppp1r1b |
A |
G |
11: 98,246,216 (GRCm39) |
E66G |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,994,306 (GRCm39) |
W1325R |
probably benign |
Het |
| Sec14l5 |
A |
C |
16: 4,998,141 (GRCm39) |
E500A |
possibly damaging |
Het |
| Sirpb1c |
A |
G |
3: 15,886,470 (GRCm39) |
V302A |
possibly damaging |
Het |
| Spata19 |
T |
C |
9: 27,312,133 (GRCm39) |
Y107H |
possibly damaging |
Het |
| Sv2a |
G |
A |
3: 96,095,502 (GRCm39) |
M298I |
probably benign |
Het |
| Tdrd6 |
A |
T |
17: 43,937,229 (GRCm39) |
M1273K |
probably benign |
Het |
| Tectb |
A |
G |
19: 55,179,904 (GRCm39) |
H250R |
possibly damaging |
Het |
| Trip11 |
T |
G |
12: 101,851,837 (GRCm39) |
E742D |
possibly damaging |
Het |
| Tslp |
A |
G |
18: 32,950,143 (GRCm39) |
T71A |
probably benign |
Het |
| Usp20 |
C |
T |
2: 30,907,770 (GRCm39) |
R711C |
possibly damaging |
Het |
| Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
| Vmn2r8 |
A |
T |
5: 108,949,757 (GRCm39) |
F363L |
probably benign |
Het |
| Vsnl1 |
T |
A |
12: 11,382,156 (GRCm39) |
N75I |
probably damaging |
Het |
| Wdr55 |
A |
T |
18: 36,895,122 (GRCm39) |
D96V |
probably damaging |
Het |
| Wls |
T |
A |
3: 159,640,007 (GRCm39) |
|
probably null |
Het |
| Zc3h13 |
A |
G |
14: 75,546,355 (GRCm39) |
D152G |
probably damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,110,604 (GRCm39) |
E151G |
probably benign |
Het |
| Zfat |
A |
G |
15: 67,956,311 (GRCm39) |
S1174P |
probably damaging |
Het |
| Zfyve9 |
T |
A |
4: 108,531,685 (GRCm39) |
T416S |
probably 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 |
|
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 |
|
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'- TTGATGATCTGCACACTGCC -3'
(R):5'- TGTGGCAATGGTGACAGCTG -3'
Sequencing Primer
(F):5'- TCGTACCAACAGGACCCGG -3'
(R):5'- CATTTCAGCTGACCTTGG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation