Incidental Mutation 'IGL01387:Gk5'
ID 79097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gk5
Ensembl Gene ENSMUSG00000041440
Gene Name glycerol kinase 5
Synonyms G630067D24Rik, C330018K18Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01387
Quality Score
Status
Chromosome 9
Chromosomal Location 96001415-96066661 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 96059607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085217] [ENSMUST00000122383] [ENSMUST00000129774]
AlphaFold Q8BX05
Predicted Effect probably null
Transcript: ENSMUST00000085217
SMART Domains Protein: ENSMUSP00000082313
Gene: ENSMUSG00000041440

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
Pfam:FGGY_N 25 287 9e-50 PFAM
Pfam:FGGY_C 296 485 7.7e-35 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000122383
SMART Domains Protein: ENSMUSP00000112717
Gene: ENSMUSG00000041440

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
Pfam:FGGY_N 25 287 1.9e-49 PFAM
Pfam:FGGY_C 296 485 1.8e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129774
SMART Domains Protein: ENSMUSP00000123594
Gene: ENSMUSG00000041440

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
SCOP:d1bu6o1 24 56 1e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189249
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous knockout does not result in an obvious skin phenotype and does not lead to alopecia. [provided by MGI curators]
Allele List at MGI

All alleles(19) : Targeted(2) Gene trapped(17)

Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,835,596 (GRCm39) I288T possibly damaging Het
Akr1c13 T A 13: 4,247,794 (GRCm39) probably null Het
Ano2 T C 6: 125,990,240 (GRCm39) L787P probably damaging Het
Arf4 A T 14: 26,374,300 (GRCm39) I73F possibly damaging Het
Atp6v1e1 A G 6: 120,772,732 (GRCm39) probably null Het
Ccdc9 A C 7: 16,018,424 (GRCm39) M1R probably null Het
Cep162 A G 9: 87,093,864 (GRCm39) L838S probably benign Het
Cfap251 T A 5: 123,421,609 (GRCm39) I654N probably damaging Het
Cfi T A 3: 129,668,562 (GRCm39) probably benign Het
Creb3l3 T C 10: 80,927,110 (GRCm39) T107A probably benign Het
Erlin2 T C 8: 27,526,576 (GRCm39) L312P probably benign Het
Etv1 T G 12: 38,911,326 (GRCm39) M384R probably damaging Het
Exph5 G T 9: 53,285,265 (GRCm39) S782I possibly damaging Het
Fsd1 C T 17: 56,303,733 (GRCm39) S491F probably damaging Het
Fsip2 A G 2: 82,823,326 (GRCm39) N6353S possibly damaging Het
Gm11168 T G 9: 3,005,128 (GRCm39) S202R possibly damaging Het
Hdlbp T C 1: 93,341,310 (GRCm39) D1016G possibly damaging Het
Kpna4 A G 3: 69,009,590 (GRCm39) probably benign Het
Lrrn2 T C 1: 132,866,096 (GRCm39) V387A possibly damaging Het
Or4a76 T A 2: 89,460,964 (GRCm39) R93* probably null Het
Or5bw2 A G 7: 6,573,854 (GRCm39) Y288C probably damaging Het
Or6c33 T A 10: 129,853,710 (GRCm39) M160K probably damaging Het
Or8g23 A G 9: 38,971,617 (GRCm39) L115S probably damaging Het
Or8k37 T C 2: 86,469,594 (GRCm39) T153A probably benign Het
Plekhs1 A G 19: 56,459,403 (GRCm39) Q51R probably benign Het
Rab27b T A 18: 70,118,380 (GRCm39) D179V possibly damaging Het
Rprd2 C T 3: 95,672,631 (GRCm39) R924H probably benign Het
Shprh T C 10: 11,045,998 (GRCm39) I905T probably damaging Het
Trpm8 T C 1: 88,271,009 (GRCm39) L433P probably damaging Het
Urb1 A G 16: 90,554,649 (GRCm39) L1861S possibly damaging Het
Vmn2r124 C A 17: 18,283,188 (GRCm39) T294K probably damaging Het
Znrf3 A T 11: 5,288,656 (GRCm39) C37* probably null Het
Other mutations in Gk5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Gk5 APN 9 96,019,842 (GRCm39) missense probably damaging 0.98
IGL01771:Gk5 APN 9 96,059,488 (GRCm39) missense probably damaging 0.97
IGL02253:Gk5 APN 9 96,019,824 (GRCm39) missense probably damaging 1.00
IGL02380:Gk5 APN 9 96,032,533 (GRCm39) missense possibly damaging 0.92
IGL02566:Gk5 APN 9 96,011,099 (GRCm39) missense possibly damaging 0.56
IGL03137:Gk5 APN 9 96,058,345 (GRCm39) splice site probably benign
IGL03256:Gk5 APN 9 96,011,106 (GRCm39) missense probably damaging 1.00
IGL03326:Gk5 APN 9 96,019,892 (GRCm39) critical splice donor site probably null
barrener UTSW 9 96,011,149 (GRCm39) critical splice donor site probably null
glimpse UTSW 9 96,063,823 (GRCm39) critical splice acceptor site probably null
homer UTSW 9 96,022,709 (GRCm39) nonsense probably null
sean UTSW 9 96,058,290 (GRCm39) nonsense probably null
stripped UTSW 9 96,011,106 (GRCm39) missense probably damaging 1.00
tangyuan UTSW 9 96,032,850 (GRCm39) critical splice donor site probably null
toku UTSW 9 96,022,682 (GRCm39) frame shift probably null
victoria UTSW 9 96,032,839 (GRCm39) missense possibly damaging 0.65
G1patch:Gk5 UTSW 9 96,037,523 (GRCm39) missense probably benign 0.01
I1329:Gk5 UTSW 9 96,022,682 (GRCm39) frame shift probably null
R0279:Gk5 UTSW 9 96,056,857 (GRCm39) splice site probably benign
R0284:Gk5 UTSW 9 96,063,823 (GRCm39) critical splice acceptor site probably null
R1134:Gk5 UTSW 9 96,015,460 (GRCm39) missense probably benign 0.00
R1184:Gk5 UTSW 9 96,032,473 (GRCm39) splice site probably benign
R1772:Gk5 UTSW 9 96,032,850 (GRCm39) critical splice donor site probably null
R1781:Gk5 UTSW 9 96,015,508 (GRCm39) missense possibly damaging 0.79
R3691:Gk5 UTSW 9 96,011,149 (GRCm39) critical splice donor site probably null
R4213:Gk5 UTSW 9 96,011,106 (GRCm39) missense probably damaging 1.00
R5015:Gk5 UTSW 9 96,059,470 (GRCm39) critical splice acceptor site probably null
R5166:Gk5 UTSW 9 96,056,821 (GRCm39) missense probably damaging 0.99
R5643:Gk5 UTSW 9 96,022,709 (GRCm39) nonsense probably null
R5857:Gk5 UTSW 9 96,001,508 (GRCm39) nonsense probably null
R5924:Gk5 UTSW 9 96,032,563 (GRCm39) critical splice donor site probably null
R6109:Gk5 UTSW 9 96,022,663 (GRCm39) missense probably benign 0.00
R6138:Gk5 UTSW 9 96,058,290 (GRCm39) nonsense probably null
R6725:Gk5 UTSW 9 96,037,523 (GRCm39) missense probably benign 0.01
R6812:Gk5 UTSW 9 96,032,802 (GRCm39) missense probably damaging 0.99
R7065:Gk5 UTSW 9 96,061,109 (GRCm39) missense probably damaging 1.00
R7182:Gk5 UTSW 9 96,001,579 (GRCm39) missense possibly damaging 0.89
R7213:Gk5 UTSW 9 96,027,765 (GRCm39) missense probably damaging 1.00
R7260:Gk5 UTSW 9 96,001,663 (GRCm39) missense probably benign 0.10
R7607:Gk5 UTSW 9 96,035,263 (GRCm39) splice site probably null
R7666:Gk5 UTSW 9 96,035,160 (GRCm39) missense probably damaging 1.00
R8152:Gk5 UTSW 9 96,056,756 (GRCm39) missense probably damaging 1.00
R8355:Gk5 UTSW 9 96,032,839 (GRCm39) missense possibly damaging 0.65
R8954:Gk5 UTSW 9 96,059,562 (GRCm39) missense probably benign 0.07
R9077:Gk5 UTSW 9 96,001,634 (GRCm39) missense probably benign 0.00
R9186:Gk5 UTSW 9 96,015,469 (GRCm39) missense probably benign 0.44
U15987:Gk5 UTSW 9 96,058,290 (GRCm39) nonsense probably null
Posted On 2013-11-05