Incidental Mutation 'IGL02341:Hk1'
ID289095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hk1
Ensembl Gene ENSMUSG00000037012
Gene Namehexokinase 1
SynonymsmHk1-s, Hk-1, Hk1-s
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.571) question?
Stock #IGL02341
Quality Score
Status
Chromosome10
Chromosomal Location62268855-62379908 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 62284380 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 607 (S607P)
Ref Sequence ENSEMBL: ENSMUSP00000111946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072357] [ENSMUST00000099691] [ENSMUST00000116238] [ENSMUST00000130422]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072357
AA Change: S607P

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000072195
Gene: ENSMUSG00000037012
AA Change: S607P

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000099691
AA Change: S580P

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097282
Gene: ENSMUSG00000037012
AA Change: S580P

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000116238
AA Change: S607P

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000111946
Gene: ENSMUSG00000037012
AA Change: S607P

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000130422
AA Change: S579P

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118601
Gene: ENSMUSG00000037012
AA Change: S579P

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000161160
Coding Region Coverage
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik T C 11: 58,612,830 S17G possibly damaging Het
Arid2 C T 15: 96,372,185 S1393L probably benign Het
Bahcc1 T A 11: 120,272,520 I548N probably damaging Het
Baiap3 A T 17: 25,248,316 L405Q possibly damaging Het
Cacna1g T G 11: 94,462,152 Q349P probably damaging Het
Ccdc30 T C 4: 119,356,781 T184A possibly damaging Het
Ccdc63 A G 5: 122,113,198 I383T probably benign Het
Ccnk A G 12: 108,195,730 E298G unknown Het
Ccnt1 T C 15: 98,546,783 E223G possibly damaging Het
Clcc1 T A 3: 108,673,383 L333I possibly damaging Het
Cyp2b10 G A 7: 25,911,242 R59Q probably benign Het
Cyp3a41b T A 5: 145,573,651 T138S probably benign Het
Dennd4a C T 9: 64,842,561 R145* probably null Het
Dnah8 A T 17: 30,747,257 I2474F probably damaging Het
Dok1 T C 6: 83,033,054 T25A probably damaging Het
Ears2 G A 7: 122,039,764 A479V probably benign Het
Erc1 T A 6: 119,594,973 I981F possibly damaging Het
Fam129c A T 8: 71,603,799 N381I possibly damaging Het
Gm8730 A G 8: 102,865,143 noncoding transcript Het
Gm9962 C T 7: 57,387,294 probably benign Het
Has3 A T 8: 106,874,005 Y33F probably damaging Het
Hlcs T A 16: 94,231,110 I612F probably damaging Het
Llgl2 T A 11: 115,851,120 S663T possibly damaging Het
Lrriq1 T C 10: 103,224,941 H100R probably benign Het
Magi2 T A 5: 20,466,203 I678N probably damaging Het
Megf11 G A 9: 64,544,620 G109S probably damaging Het
Morc2b A T 17: 33,137,307 I497K probably damaging Het
Mybpc2 A C 7: 44,514,930 S404A probably benign Het
Mylip A G 13: 45,391,276 R59G probably damaging Het
Mylk3 A T 8: 85,351,972 I501N probably damaging Het
Myo19 A G 11: 84,888,045 probably benign Het
Nat2 A G 8: 67,501,718 Y160C possibly damaging Het
Nf1 C T 11: 79,564,926 A2554V probably benign Het
Ninl A T 2: 150,944,605 C153* probably null Het
Nlrp5 C T 7: 23,404,152 R15C probably benign Het
Nphp4 A T 4: 152,555,469 probably benign Het
Obscn C A 11: 59,135,825 R184L probably benign Het
Olfr767 A T 10: 129,079,461 C167* probably null Het
Olfr771 T A 10: 129,160,433 I184F probably benign Het
Olfr804 A T 10: 129,705,489 T204S probably damaging Het
Phip A T 9: 82,932,883 V262D probably damaging Het
Ptprg T A 14: 12,154,360 S694T probably benign Het
Reck T A 4: 43,925,160 D466E probably damaging Het
Rimbp2 G T 5: 128,800,961 Y213* probably null Het
Scn2a C T 2: 65,688,377 T365M probably damaging Het
Scpep1 T A 11: 88,944,488 T120S probably benign Het
Sp7 T A 15: 102,359,222 T50S possibly damaging Het
Tbc1d1 A G 5: 64,275,407 R304G probably damaging Het
Tiam1 A G 16: 89,898,369 S67P probably damaging Het
Tjp1 G A 7: 65,312,634 T1185I probably damaging Het
Tspan2 T A 3: 102,765,213 I178N probably damaging Het
Tusc2 T A 9: 107,564,910 *103R probably null Het
Uggt1 A T 1: 36,164,519 *47R probably null Het
Unc13c T A 9: 73,933,210 I120F possibly damaging Het
Vcpip1 T A 1: 9,724,950 K1065N possibly damaging Het
Zfp532 C A 18: 65,624,778 P594Q probably damaging Het
Other mutations in Hk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Hk1 APN 10 62286348 nonsense probably null
IGL01108:Hk1 APN 10 62296708 missense probably benign 0.00
IGL01810:Hk1 APN 10 62353105 missense probably benign 0.13
IGL01950:Hk1 APN 10 62315394 missense probably damaging 0.99
IGL02165:Hk1 APN 10 62281888 missense probably damaging 1.00
IGL02227:Hk1 APN 10 62281140 splice site probably benign
IGL02257:Hk1 APN 10 62271643 missense probably benign 0.07
IGL02553:Hk1 APN 10 62295773 missense possibly damaging 0.71
IGL02623:Hk1 APN 10 62292359 missense probably benign 0.21
IGL02700:Hk1 APN 10 62284811 missense probably damaging 1.00
IGL02863:Hk1 APN 10 62295755 missense possibly damaging 0.83
IGL03002:Hk1 APN 10 62271799 missense probably damaging 1.00
BB009:Hk1 UTSW 10 62315520 missense probably damaging 1.00
BB019:Hk1 UTSW 10 62315520 missense probably damaging 1.00
R0029:Hk1 UTSW 10 62315394 missense probably damaging 0.99
R0436:Hk1 UTSW 10 62299275 splice site probably benign
R0853:Hk1 UTSW 10 62271716 nonsense probably null
R1422:Hk1 UTSW 10 62296094 missense probably null 0.98
R1531:Hk1 UTSW 10 62284784 missense probably damaging 1.00
R1760:Hk1 UTSW 10 62281899 missense probably damaging 1.00
R2064:Hk1 UTSW 10 62286536 missense probably benign 0.03
R3236:Hk1 UTSW 10 62296019 splice site probably null
R3788:Hk1 UTSW 10 62275688 missense possibly damaging 0.85
R3977:Hk1 UTSW 10 62290319 missense probably benign 0.10
R4373:Hk1 UTSW 10 62315540 missense probably damaging 0.98
R4374:Hk1 UTSW 10 62315540 missense probably damaging 0.98
R4377:Hk1 UTSW 10 62315540 missense probably damaging 0.98
R4435:Hk1 UTSW 10 62275844 missense probably damaging 1.00
R4609:Hk1 UTSW 10 62358415 utr 5 prime probably benign
R4648:Hk1 UTSW 10 62304779 missense probably benign 0.00
R4864:Hk1 UTSW 10 62342539 missense probably benign 0.00
R4934:Hk1 UTSW 10 62358386 utr 5 prime probably benign
R5110:Hk1 UTSW 10 62286651 missense probably damaging 1.00
R5352:Hk1 UTSW 10 62304770 missense probably damaging 0.97
R5569:Hk1 UTSW 10 62286441 missense probably benign 0.35
R5609:Hk1 UTSW 10 62342551 missense probably benign 0.30
R5647:Hk1 UTSW 10 62275744 missense probably damaging 0.99
R5750:Hk1 UTSW 10 62274466 missense possibly damaging 0.86
R5770:Hk1 UTSW 10 62286449 missense probably benign
R5832:Hk1 UTSW 10 62292365 missense probably benign 0.17
R5905:Hk1 UTSW 10 62353058 missense probably null 0.82
R5933:Hk1 UTSW 10 62269994 missense probably damaging 1.00
R6028:Hk1 UTSW 10 62353058 missense probably null 0.82
R6196:Hk1 UTSW 10 62299259 missense probably damaging 1.00
R6314:Hk1 UTSW 10 62292444 missense possibly damaging 0.93
R6372:Hk1 UTSW 10 62291978 missense probably benign
R6801:Hk1 UTSW 10 62281131 missense probably damaging 0.97
R6838:Hk1 UTSW 10 62271658 missense probably damaging 0.98
R7045:Hk1 UTSW 10 62286570 missense probably damaging 1.00
R7420:Hk1 UTSW 10 62269982 missense probably damaging 1.00
R7491:Hk1 UTSW 10 62295745 missense probably damaging 1.00
R7527:Hk1 UTSW 10 62304782 missense probably damaging 0.99
R7561:Hk1 UTSW 10 62281028 splice site probably null
R7932:Hk1 UTSW 10 62315520 missense probably damaging 1.00
R8031:Hk1 UTSW 10 62296699 missense probably benign 0.15
R8128:Hk1 UTSW 10 62281843 missense probably benign
R8204:Hk1 UTSW 10 62296744 missense probably damaging 1.00
R8294:Hk1 UTSW 10 62295845 missense probably benign 0.00
X0018:Hk1 UTSW 10 62275706 missense probably benign 0.02
X0063:Hk1 UTSW 10 62275704 nonsense probably null
Posted On2015-04-16