Incidental Mutation 'R7527:Hk1'
ID |
583081 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hk1
|
Ensembl Gene |
ENSMUSG00000037012 |
Gene Name |
hexokinase 1 |
Synonyms |
mHk1-s, Hk1-s, Hk-1 |
MMRRC Submission |
045599-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.430)
|
Stock # |
R7527 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
62104634-62215687 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 62140561 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 105
(V105F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097282
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072357]
[ENSMUST00000099691]
[ENSMUST00000116238]
[ENSMUST00000130422]
[ENSMUST00000139228]
[ENSMUST00000143179]
[ENSMUST00000152761]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072357
AA Change: V109F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000072195 Gene: ENSMUSG00000037012 AA Change: V109F
Domain | Start | End | E-Value | Type |
Pfam:Hexokinase_1
|
25 |
224 |
1.2e-70 |
PFAM |
Pfam:Hexokinase_2
|
229 |
486 |
8e-79 |
PFAM |
Pfam:Hexokinase_1
|
496 |
695 |
7e-76 |
PFAM |
Pfam:Hexokinase_2
|
700 |
934 |
4.2e-85 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099691
AA Change: V105F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000097282 Gene: ENSMUSG00000037012 AA Change: V105F
Domain | Start | End | E-Value | Type |
Pfam:Hexokinase_1
|
16 |
221 |
1.9e-86 |
PFAM |
Pfam:Hexokinase_2
|
223 |
462 |
1e-102 |
PFAM |
Pfam:Hexokinase_1
|
464 |
669 |
1.1e-90 |
PFAM |
Pfam:Hexokinase_2
|
671 |
910 |
2.2e-109 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000116238
AA Change: V109F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000111946 Gene: ENSMUSG00000037012 AA Change: V109F
Domain | Start | End | E-Value | Type |
Pfam:Hexokinase_1
|
21 |
225 |
1.3e-85 |
PFAM |
Pfam:Hexokinase_2
|
227 |
357 |
3.6e-56 |
PFAM |
Pfam:Hexokinase_2
|
362 |
489 |
9.3e-41 |
PFAM |
Pfam:Hexokinase_1
|
491 |
696 |
2e-90 |
PFAM |
Pfam:Hexokinase_2
|
698 |
937 |
3.8e-109 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000130422
AA Change: V104F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118601 Gene: ENSMUSG00000037012 AA Change: V104F
Domain | Start | End | E-Value | Type |
Pfam:Hexokinase_1
|
16 |
220 |
1.4e-85 |
PFAM |
Pfam:Hexokinase_2
|
222 |
461 |
1e-102 |
PFAM |
Pfam:Hexokinase_1
|
463 |
668 |
1.1e-90 |
PFAM |
Pfam:Hexokinase_2
|
670 |
909 |
2.2e-109 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000139228
AA Change: V91F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118166 Gene: ENSMUSG00000037012 AA Change: V91F
Domain | Start | End | E-Value | Type |
Pfam:Hexokinase_1
|
3 |
184 |
1.4e-74 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143179
|
SMART Domains |
Protein: ENSMUSP00000120151 Gene: ENSMUSG00000037012
Domain | Start | End | E-Value | Type |
Pfam:Hexokinase_1
|
5 |
80 |
5e-29 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000152761
AA Change: V89F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117752 Gene: ENSMUSG00000037012 AA Change: V89F
Domain | Start | End | E-Value | Type |
Pfam:Hexokinase_1
|
2 |
205 |
5.6e-88 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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 a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016] PHENOTYPE: Homozygous mutant mice exhibit hemolytic anemia with extensive tissue iron deposition and reticulocytosis and female infertility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
A |
T |
11: 110,218,556 (GRCm39) |
|
probably null |
Het |
Abcc10 |
A |
G |
17: 46,623,830 (GRCm39) |
S810P |
possibly damaging |
Het |
Adam22 |
T |
C |
5: 8,132,239 (GRCm39) |
H138R |
possibly damaging |
Het |
Adcyap1 |
T |
A |
17: 93,510,257 (GRCm39) |
L95* |
probably null |
Het |
Adgrl4 |
C |
A |
3: 151,144,887 (GRCm39) |
T12N |
probably benign |
Het |
Alpi |
T |
C |
1: 87,026,677 (GRCm39) |
N438S |
probably benign |
Het |
Ankrd44 |
T |
C |
1: 54,687,483 (GRCm39) |
N979D |
probably benign |
Het |
Ankrd60 |
A |
C |
2: 173,419,966 (GRCm39) |
S57A |
probably benign |
Het |
Arfgef3 |
G |
A |
10: 18,522,377 (GRCm39) |
P550S |
probably benign |
Het |
Btbd16 |
A |
T |
7: 130,422,202 (GRCm39) |
D390V |
probably damaging |
Het |
Cacna2d4 |
T |
C |
6: 119,248,208 (GRCm39) |
V374A |
probably benign |
Het |
Cdcp1 |
A |
T |
9: 123,014,172 (GRCm39) |
F201I |
probably benign |
Het |
Cdh15 |
A |
T |
8: 123,588,865 (GRCm39) |
D313V |
probably damaging |
Het |
Cfap157 |
A |
G |
2: 32,669,890 (GRCm39) |
L231P |
possibly damaging |
Het |
Chl1 |
T |
G |
6: 103,688,162 (GRCm39) |
C1001G |
probably damaging |
Het |
Cmtr2 |
A |
G |
8: 110,948,770 (GRCm39) |
H360R |
probably damaging |
Het |
Csmd1 |
C |
T |
8: 16,261,732 (GRCm39) |
A922T |
probably damaging |
Het |
Fancg |
C |
T |
4: 43,010,116 (GRCm39) |
|
probably benign |
Het |
Glt8d2 |
A |
T |
10: 82,488,403 (GRCm39) |
S356T |
unknown |
Het |
Gm19410 |
T |
A |
8: 36,269,386 (GRCm39) |
C1074S |
probably damaging |
Het |
Gm9195 |
C |
T |
14: 72,711,310 (GRCm39) |
C376Y |
possibly damaging |
Het |
Gnai3 |
G |
A |
3: 108,025,693 (GRCm39) |
R129C |
|
Het |
Golph3 |
T |
G |
15: 12,343,404 (GRCm39) |
|
probably null |
Het |
H2bc18 |
T |
A |
3: 96,177,186 (GRCm39) |
V40D |
possibly damaging |
Het |
Hoxd8 |
A |
G |
2: 74,536,001 (GRCm39) |
Y37C |
probably damaging |
Het |
Inava |
T |
A |
1: 136,142,122 (GRCm39) |
D659V |
possibly damaging |
Het |
Jun |
G |
T |
4: 94,939,234 (GRCm39) |
P92Q |
probably damaging |
Het |
Klhl14 |
C |
T |
18: 21,784,597 (GRCm39) |
V277I |
probably damaging |
Het |
Lrrc51 |
C |
T |
7: 101,569,843 (GRCm39) |
|
probably null |
Het |
Man2c1 |
T |
A |
9: 57,045,100 (GRCm39) |
Y429* |
probably null |
Het |
Myo18a |
T |
A |
11: 77,734,406 (GRCm39) |
C1476S |
probably benign |
Het |
Neb |
G |
C |
2: 52,066,635 (GRCm39) |
T6155R |
probably damaging |
Het |
Niban3 |
C |
G |
8: 72,059,342 (GRCm39) |
C568W |
probably damaging |
Het |
Nuf2 |
T |
C |
1: 169,326,422 (GRCm39) |
E443G |
possibly damaging |
Het |
Or10j5 |
C |
T |
1: 172,784,511 (GRCm39) |
H50Y |
probably benign |
Het |
Or4c15 |
A |
G |
2: 88,760,434 (GRCm39) |
V75A |
probably benign |
Het |
Or5d37 |
A |
T |
2: 87,923,954 (GRCm39) |
C109S |
probably damaging |
Het |
Or7g32 |
A |
G |
9: 19,408,685 (GRCm39) |
I214V |
probably damaging |
Het |
Osmr |
A |
G |
15: 6,856,603 (GRCm39) |
S515P |
probably damaging |
Het |
Pik3r5 |
T |
C |
11: 68,367,177 (GRCm39) |
L84P |
probably damaging |
Het |
Plcl1 |
T |
C |
1: 55,736,273 (GRCm39) |
I538T |
probably damaging |
Het |
Plxnb1 |
G |
T |
9: 108,929,929 (GRCm39) |
V262L |
probably damaging |
Het |
Pprc1 |
T |
C |
19: 46,057,804 (GRCm39) |
S1320P |
unknown |
Het |
Pramel47 |
A |
G |
5: 95,490,409 (GRCm39) |
D347G |
probably benign |
Het |
Prap1 |
G |
A |
7: 139,676,120 (GRCm39) |
|
probably null |
Het |
Psg23 |
A |
T |
7: 18,348,699 (GRCm39) |
V36D |
probably damaging |
Het |
Ptgr1 |
A |
G |
4: 58,982,887 (GRCm39) |
Y49H |
probably damaging |
Het |
Ptprr |
A |
G |
10: 116,087,104 (GRCm39) |
T528A |
probably benign |
Het |
Rapgef6 |
T |
C |
11: 54,525,787 (GRCm39) |
S541P |
unknown |
Het |
Rnf17 |
A |
T |
14: 56,753,895 (GRCm39) |
D1534V |
probably damaging |
Het |
Sdk1 |
T |
G |
5: 141,778,731 (GRCm39) |
S236R |
possibly damaging |
Het |
Sepsecs |
A |
G |
5: 52,801,393 (GRCm39) |
M423T |
possibly damaging |
Het |
Serpina1f |
T |
G |
12: 103,658,167 (GRCm39) |
Y246S |
probably benign |
Het |
Sftpb |
T |
A |
6: 72,282,048 (GRCm39) |
V46E |
possibly damaging |
Het |
Slc4a1ap |
G |
A |
5: 31,691,475 (GRCm39) |
V424I |
probably benign |
Het |
Slc5a4b |
G |
A |
10: 75,946,742 (GRCm39) |
T10M |
probably benign |
Het |
Slc6a16 |
T |
C |
7: 44,922,063 (GRCm39) |
W664R |
probably damaging |
Het |
Snx8 |
T |
C |
5: 140,341,827 (GRCm39) |
E138G |
probably benign |
Het |
Sox6 |
T |
C |
7: 115,376,408 (GRCm39) |
E108G |
probably benign |
Het |
Sptan1 |
A |
T |
2: 29,870,209 (GRCm39) |
I120F |
probably damaging |
Het |
Sptbn4 |
T |
C |
7: 27,075,015 (GRCm39) |
E1452G |
possibly damaging |
Het |
Stac2 |
T |
A |
11: 97,930,452 (GRCm39) |
E372V |
probably damaging |
Het |
Taco1 |
A |
T |
11: 105,962,795 (GRCm39) |
I161F |
probably damaging |
Het |
Taf1d |
C |
A |
9: 15,220,133 (GRCm39) |
D127E |
possibly damaging |
Het |
Tenm2 |
T |
A |
11: 36,097,803 (GRCm39) |
N482Y |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,729,635 (GRCm39) |
V1457A |
possibly damaging |
Het |
Tmem200c |
A |
T |
17: 69,148,671 (GRCm39) |
H418L |
probably benign |
Het |
Tmem81 |
T |
C |
1: 132,435,884 (GRCm39) |
V230A |
probably benign |
Het |
Tnn |
C |
T |
1: 159,946,074 (GRCm39) |
V915I |
possibly damaging |
Het |
Trav8d-2 |
A |
T |
14: 53,280,154 (GRCm39) |
Y48F |
possibly damaging |
Het |
Trpm2 |
T |
C |
10: 77,801,894 (GRCm39) |
N57S |
probably benign |
Het |
Ttn |
G |
A |
2: 76,598,383 (GRCm39) |
T19510M |
probably damaging |
Het |
Ubl7 |
T |
C |
9: 57,820,167 (GRCm39) |
L73P |
unknown |
Het |
Uso1 |
A |
G |
5: 92,347,734 (GRCm39) |
D845G |
possibly damaging |
Het |
Utrn |
G |
T |
10: 12,277,126 (GRCm39) |
P3397Q |
possibly damaging |
Het |
Vmn2r60 |
AG |
A |
7: 41,845,158 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Hk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00493:Hk1
|
APN |
10 |
62,122,127 (GRCm39) |
nonsense |
probably null |
|
IGL01108:Hk1
|
APN |
10 |
62,132,487 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01810:Hk1
|
APN |
10 |
62,188,884 (GRCm39) |
missense |
probably benign |
0.13 |
IGL01950:Hk1
|
APN |
10 |
62,151,173 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02165:Hk1
|
APN |
10 |
62,117,667 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02227:Hk1
|
APN |
10 |
62,116,919 (GRCm39) |
splice site |
probably benign |
|
IGL02257:Hk1
|
APN |
10 |
62,107,422 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02341:Hk1
|
APN |
10 |
62,120,159 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL02553:Hk1
|
APN |
10 |
62,131,552 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02623:Hk1
|
APN |
10 |
62,128,138 (GRCm39) |
missense |
probably benign |
0.21 |
IGL02700:Hk1
|
APN |
10 |
62,120,590 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02863:Hk1
|
APN |
10 |
62,131,534 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL03002:Hk1
|
APN |
10 |
62,107,578 (GRCm39) |
missense |
probably damaging |
1.00 |
BB009:Hk1
|
UTSW |
10 |
62,151,299 (GRCm39) |
missense |
probably damaging |
1.00 |
BB019:Hk1
|
UTSW |
10 |
62,151,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R0029:Hk1
|
UTSW |
10 |
62,151,173 (GRCm39) |
missense |
probably damaging |
0.99 |
R0436:Hk1
|
UTSW |
10 |
62,135,054 (GRCm39) |
splice site |
probably benign |
|
R0853:Hk1
|
UTSW |
10 |
62,107,495 (GRCm39) |
nonsense |
probably null |
|
R1422:Hk1
|
UTSW |
10 |
62,131,873 (GRCm39) |
missense |
probably null |
0.98 |
R1531:Hk1
|
UTSW |
10 |
62,120,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R1760:Hk1
|
UTSW |
10 |
62,117,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R2064:Hk1
|
UTSW |
10 |
62,122,315 (GRCm39) |
missense |
probably benign |
0.03 |
R3236:Hk1
|
UTSW |
10 |
62,131,798 (GRCm39) |
splice site |
probably null |
|
R3788:Hk1
|
UTSW |
10 |
62,111,467 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3977:Hk1
|
UTSW |
10 |
62,126,098 (GRCm39) |
missense |
probably benign |
0.10 |
R4373:Hk1
|
UTSW |
10 |
62,151,319 (GRCm39) |
missense |
probably damaging |
0.98 |
R4374:Hk1
|
UTSW |
10 |
62,151,319 (GRCm39) |
missense |
probably damaging |
0.98 |
R4377:Hk1
|
UTSW |
10 |
62,151,319 (GRCm39) |
missense |
probably damaging |
0.98 |
R4435:Hk1
|
UTSW |
10 |
62,111,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R4609:Hk1
|
UTSW |
10 |
62,194,194 (GRCm39) |
utr 5 prime |
probably benign |
|
R4648:Hk1
|
UTSW |
10 |
62,140,558 (GRCm39) |
missense |
probably benign |
0.00 |
R4864:Hk1
|
UTSW |
10 |
62,178,318 (GRCm39) |
missense |
probably benign |
0.00 |
R4934:Hk1
|
UTSW |
10 |
62,194,165 (GRCm39) |
utr 5 prime |
probably benign |
|
R5110:Hk1
|
UTSW |
10 |
62,122,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R5352:Hk1
|
UTSW |
10 |
62,140,549 (GRCm39) |
missense |
probably damaging |
0.97 |
R5569:Hk1
|
UTSW |
10 |
62,122,220 (GRCm39) |
missense |
probably benign |
0.35 |
R5609:Hk1
|
UTSW |
10 |
62,178,330 (GRCm39) |
missense |
probably benign |
0.30 |
R5647:Hk1
|
UTSW |
10 |
62,111,523 (GRCm39) |
missense |
probably damaging |
0.99 |
R5750:Hk1
|
UTSW |
10 |
62,110,245 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5770:Hk1
|
UTSW |
10 |
62,122,228 (GRCm39) |
missense |
probably benign |
|
R5832:Hk1
|
UTSW |
10 |
62,128,144 (GRCm39) |
missense |
probably benign |
0.17 |
R5905:Hk1
|
UTSW |
10 |
62,188,837 (GRCm39) |
missense |
probably null |
0.82 |
R5933:Hk1
|
UTSW |
10 |
62,105,773 (GRCm39) |
missense |
probably damaging |
1.00 |
R6028:Hk1
|
UTSW |
10 |
62,188,837 (GRCm39) |
missense |
probably null |
0.82 |
R6196:Hk1
|
UTSW |
10 |
62,135,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R6314:Hk1
|
UTSW |
10 |
62,128,223 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6372:Hk1
|
UTSW |
10 |
62,127,757 (GRCm39) |
missense |
probably benign |
|
R6801:Hk1
|
UTSW |
10 |
62,116,910 (GRCm39) |
missense |
probably damaging |
0.97 |
R6838:Hk1
|
UTSW |
10 |
62,107,437 (GRCm39) |
missense |
probably damaging |
0.98 |
R7045:Hk1
|
UTSW |
10 |
62,122,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R7420:Hk1
|
UTSW |
10 |
62,105,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R7491:Hk1
|
UTSW |
10 |
62,131,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R7561:Hk1
|
UTSW |
10 |
62,116,807 (GRCm39) |
splice site |
probably null |
|
R7932:Hk1
|
UTSW |
10 |
62,151,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R8031:Hk1
|
UTSW |
10 |
62,132,478 (GRCm39) |
missense |
probably benign |
0.15 |
R8128:Hk1
|
UTSW |
10 |
62,117,622 (GRCm39) |
missense |
probably benign |
|
R8204:Hk1
|
UTSW |
10 |
62,132,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R8294:Hk1
|
UTSW |
10 |
62,131,624 (GRCm39) |
missense |
probably benign |
0.00 |
R8685:Hk1
|
UTSW |
10 |
62,132,453 (GRCm39) |
splice site |
probably benign |
|
R8865:Hk1
|
UTSW |
10 |
62,151,294 (GRCm39) |
missense |
probably benign |
0.00 |
R9015:Hk1
|
UTSW |
10 |
62,128,118 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9022:Hk1
|
UTSW |
10 |
62,105,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R9063:Hk1
|
UTSW |
10 |
62,122,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R9404:Hk1
|
UTSW |
10 |
62,131,859 (GRCm39) |
missense |
possibly damaging |
0.76 |
X0018:Hk1
|
UTSW |
10 |
62,111,485 (GRCm39) |
missense |
probably benign |
0.02 |
X0063:Hk1
|
UTSW |
10 |
62,111,483 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGACCTCCAATAGAGTCCTGGAG -3'
(R):5'- TGGGTCCAGAGTTGTTCCAG -3'
Sequencing Primer
(F):5'- TGGGTACTCCAAGGGATT -3'
(R):5'- CAGAGTTGTTCCAGCGGGTG -3'
|
Posted On |
2019-10-17 |