Incidental Mutation 'IGL02380:Gk5'
ID291340
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gk5
Ensembl Gene ENSMUSG00000041440
Gene Nameglycerol kinase 5 (putative)
SynonymsC330018K18Rik, G630067D24Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02380
Quality Score
Status
Chromosome9
Chromosomal Location96119362-96184608 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 96150480 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 248 (S248A)
Ref Sequence ENSEMBL: ENSMUSP00000112717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085217] [ENSMUST00000122383] [ENSMUST00000129774]
Predicted Effect possibly damaging
Transcript: ENSMUST00000085217
AA Change: S248A

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000082313
Gene: ENSMUSG00000041440
AA Change: S248A

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 possibly damaging
Transcript: ENSMUST00000122383
AA Change: S248A

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112717
Gene: ENSMUSG00000041440
AA Change: S248A

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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C A 7: 40,994,544 P546T possibly damaging Het
Abca13 T C 11: 9,291,599 I1154T possibly damaging Het
Abca8a A G 11: 110,078,815 probably benign Het
Acsm5 A T 7: 119,537,286 Q360L probably benign Het
Adamtsl5 T C 10: 80,341,778 E350G probably benign Het
Adgrl2 A T 3: 148,828,489 L1017* probably null Het
Aqr T C 2: 114,109,936 D1243G probably damaging Het
Arhgef17 G T 7: 100,929,443 P766Q possibly damaging Het
Bclaf1 T C 10: 20,325,367 V413A possibly damaging Het
Bcr A G 10: 75,175,299 D14G probably benign Het
Cadps2 C T 6: 23,287,732 V1190I probably benign Het
Cdh9 A G 15: 16,856,000 I709V possibly damaging Het
Cnbd1 C A 4: 18,887,748 probably null Het
Cnbd1 T A 4: 18,887,749 probably null Het
Col4a3 T C 1: 82,672,788 probably benign Het
Coro1a T A 7: 126,703,116 K20* probably null Het
Crb2 T A 2: 37,783,435 D114E probably damaging Het
Dnah6 C A 6: 73,076,640 K2870N probably benign Het
Fam196a A T 7: 134,899,144 probably null Het
Fpr3 A G 17: 17,970,992 H175R probably benign Het
Grm4 T A 17: 27,434,661 I772F probably damaging Het
Gstt4 A G 10: 75,817,239 I163T possibly damaging Het
Hr A G 14: 70,557,761 R278G probably damaging Het
Igfbp5 T A 1: 72,863,949 R156* probably null Het
Ighv1-4 G A 12: 114,487,133 probably benign Het
Kcna2 A C 3: 107,104,958 Q285P probably benign Het
Klf5 A T 14: 99,301,458 R102S possibly damaging Het
Ldb1 A T 19: 46,034,490 M252K possibly damaging Het
Lrrc66 T C 5: 73,629,666 I114V possibly damaging Het
Map1b A T 13: 99,431,143 I1690N unknown Het
Myo1a A G 10: 127,714,485 T565A probably benign Het
Nt5c T C 11: 115,491,301 D84G possibly damaging Het
Pde1b A G 15: 103,519,990 N51S possibly damaging Het
Pikfyve T A 1: 65,256,021 L1437Q probably damaging Het
Pld5 C T 1: 176,140,044 V82I probably damaging Het
Psmb6 T A 11: 70,525,911 N42K probably benign Het
Slco3a1 G A 7: 74,554,490 S34F probably damaging Het
Slfn9 A G 11: 82,981,220 Y897H probably benign Het
Spag6l T C 16: 16,763,169 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tmem215 A T 4: 40,474,534 I204F probably benign Het
Txnl1 A G 18: 63,674,043 probably null Het
Ube2q2 T A 9: 55,163,012 D79E probably benign Het
Ugt2a3 T C 5: 87,336,799 D122G probably benign Het
Vmn2r73 A T 7: 85,858,175 I643K probably benign Het
Xkrx T A X: 134,150,639 H421L probably benign Het
Other mutations in Gk5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Gk5 APN 9 96137789 missense probably damaging 0.98
IGL01387:Gk5 APN 9 96177554 critical splice donor site probably null
IGL01771:Gk5 APN 9 96177435 missense probably damaging 0.97
IGL02253:Gk5 APN 9 96137771 missense probably damaging 1.00
IGL02566:Gk5 APN 9 96129046 missense possibly damaging 0.56
IGL03137:Gk5 APN 9 96176292 splice site probably benign
IGL03256:Gk5 APN 9 96129053 missense probably damaging 1.00
IGL03326:Gk5 APN 9 96137839 critical splice donor site probably null
barrener UTSW 9 96129096 critical splice donor site probably null
glimpse UTSW 9 96181770 critical splice acceptor site probably null
homer UTSW 9 96140656 nonsense probably null
sean UTSW 9 96176237 nonsense probably null
stripped UTSW 9 96129053 missense probably damaging 1.00
tangyuan UTSW 9 96150797 critical splice donor site probably null
toku UTSW 9 96140629 frame shift probably null
I1329:Gk5 UTSW 9 96140629 frame shift probably null
R0279:Gk5 UTSW 9 96174804 splice site probably benign
R0284:Gk5 UTSW 9 96181770 critical splice acceptor site probably null
R1134:Gk5 UTSW 9 96133407 missense probably benign 0.00
R1184:Gk5 UTSW 9 96150420 splice site probably benign
R1772:Gk5 UTSW 9 96150797 critical splice donor site probably null
R1781:Gk5 UTSW 9 96133455 missense possibly damaging 0.79
R3691:Gk5 UTSW 9 96129096 critical splice donor site probably null
R4213:Gk5 UTSW 9 96129053 missense probably damaging 1.00
R5015:Gk5 UTSW 9 96177417 critical splice acceptor site probably null
R5166:Gk5 UTSW 9 96174768 missense probably damaging 0.99
R5643:Gk5 UTSW 9 96140656 nonsense probably null
R5857:Gk5 UTSW 9 96119455 nonsense probably null
R5924:Gk5 UTSW 9 96150510 critical splice donor site probably null
R6109:Gk5 UTSW 9 96140610 missense probably benign 0.00
R6138:Gk5 UTSW 9 96176237 nonsense probably null
R6725:Gk5 UTSW 9 96155470 missense probably benign 0.01
R6812:Gk5 UTSW 9 96150749 missense probably damaging 0.99
R7065:Gk5 UTSW 9 96179056 missense probably damaging 1.00
R7182:Gk5 UTSW 9 96119526 missense possibly damaging 0.89
R7213:Gk5 UTSW 9 96145712 missense probably damaging 1.00
R7260:Gk5 UTSW 9 96119610 missense probably benign 0.10
R7666:Gk5 UTSW 9 96153107 missense probably damaging 1.00
U15987:Gk5 UTSW 9 96176237 nonsense probably null
Posted On2015-04-16