Incidental Mutation 'IGL03411:Shpk'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shpk
Ensembl Gene ENSMUSG00000005951
Gene Namesedoheptulokinase
Synonyms4930431K22Rik, Carkl
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03411
Quality Score
Chromosomal Location73199460-73224511 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73215035 bp
Amino Acid Change Threonine to Alanine at position 238 (T238A)
Ref Sequence ENSEMBL: ENSMUSP00000006105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006105] [ENSMUST00000131927]
Predicted Effect probably benign
Transcript: ENSMUST00000006105
AA Change: T238A

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000006105
Gene: ENSMUSG00000005951
AA Change: T238A

Pfam:FGGY_N 6 264 3.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131927
SMART Domains Protein: ENSMUSP00000123639
Gene: ENSMUSG00000005951

Pfam:FGGY_N 6 109 3.7e-14 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,399,560 I305T probably damaging Het
Adamts18 G A 8: 113,764,297 Q513* probably null Het
Adamts6 A G 13: 104,314,334 I342V possibly damaging Het
Agtr1a A G 13: 30,381,599 T216A possibly damaging Het
Coro1b A G 19: 4,150,226 probably benign Het
Cyp4a10 G A 4: 115,525,693 probably null Het
Cyp4x1 T A 4: 115,108,785 Q448L probably benign Het
Ddx60 A T 8: 61,977,882 probably null Het
Exoc1 C A 5: 76,542,195 A194D probably damaging Het
Fastkd1 A C 2: 69,707,359 V293G probably damaging Het
Gm5773 T C 3: 93,773,957 L312P probably damaging Het
Hhla1 A G 15: 65,930,229 probably null Het
Hmcn2 A T 2: 31,346,637 E397D possibly damaging Het
Lig1 C T 7: 13,296,768 R449C probably damaging Het
Mdc1 A G 17: 35,853,126 T1189A probably benign Het
Muc4 G A 16: 32,754,318 M1397I probably benign Het
Myh15 A G 16: 49,159,967 E1484G possibly damaging Het
Neb T C 2: 52,292,878 I1019V probably benign Het
Nid1 T C 13: 13,437,889 L63P probably damaging Het
Ogfod3 A T 11: 121,177,804 *316R probably null Het
Olfr5 T C 7: 6,480,436 K240R probably benign Het
Pdpk1 A T 17: 24,101,644 V193E probably damaging Het
Phf3 G T 1: 30,804,401 P1826T probably damaging Het
Pnliprp2 A G 19: 58,760,415 I51V probably benign Het
Prpf4b C T 13: 34,895,359 L739F probably damaging Het
Rcbtb1 T A 14: 59,209,970 M1K probably null Het
Rin2 A G 2: 145,860,944 E520G probably damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Tmem132d A T 5: 127,984,283 Y418* probably null Het
Tpte T C 8: 22,325,537 V212A possibly damaging Het
Trim55 A T 3: 19,659,190 Y135F probably damaging Het
Ttn C T 2: 76,768,112 A19486T probably damaging Het
Vmn2r59 A T 7: 42,058,916 N22K probably benign Het
Vmn2r63 T C 7: 42,927,944 D390G probably benign Het
Vmn2r96 A G 17: 18,586,372 E527G possibly damaging Het
Vps13d C T 4: 145,149,324 E1538K probably damaging Het
Zfp64 T C 2: 168,951,542 probably null Het
Zfp827 A G 8: 79,076,487 S563G probably damaging Het
Other mutations in Shpk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02097:Shpk APN 11 73203995 missense probably damaging 1.00
R0125:Shpk UTSW 11 73214222 splice site probably benign
R0826:Shpk UTSW 11 73204031 missense probably damaging 1.00
R1055:Shpk UTSW 11 73215119 missense probably benign
R1670:Shpk UTSW 11 73222931 missense probably benign 0.00
R2077:Shpk UTSW 11 73203959 missense probably damaging 1.00
R2263:Shpk UTSW 11 73206493 critical splice donor site probably benign
R5281:Shpk UTSW 11 73215120 missense probably benign 0.06
R5443:Shpk UTSW 11 73222781 missense possibly damaging 0.94
R5461:Shpk UTSW 11 73199535 missense probably benign 0.08
R6063:Shpk UTSW 11 73213444 nonsense probably null
R6424:Shpk UTSW 11 73213492 missense possibly damaging 0.50
R7150:Shpk UTSW 11 73213489 missense probably damaging 0.99
R7176:Shpk UTSW 11 73222988 missense probably benign 0.05
R7255:Shpk UTSW 11 73199660 missense probably benign 0.00
Posted On2016-08-02