Incidental Mutation 'IGL02097:Shpk'
ID 279629
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shpk
Ensembl Gene ENSMUSG00000005951
Gene Name sedoheptulokinase
Synonyms 4930431K22Rik, Carkl
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02097
Quality Score
Status
Chromosome 11
Chromosomal Location 73090286-73115337 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73094821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 79 (L79P)
Ref Sequence ENSEMBL: ENSMUSP00000123639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006103] [ENSMUST00000006105] [ENSMUST00000108476] [ENSMUST00000131927]
AlphaFold Q9D5J6
Predicted Effect probably benign
Transcript: ENSMUST00000006103
SMART Domains Protein: ENSMUSP00000006103
Gene: ENSMUSG00000005949

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CTNS 140 171 6.43e-12 SMART
transmembrane domain 206 225 N/A INTRINSIC
transmembrane domain 238 257 N/A INTRINSIC
CTNS 279 310 1.47e-6 SMART
transmembrane domain 338 357 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000006105
AA Change: L79P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000006105
Gene: ENSMUSG00000005951
AA Change: L79P

DomainStartEndE-ValueType
Pfam:FGGY_N 6 264 3.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108476
SMART Domains Protein: ENSMUSP00000104116
Gene: ENSMUSG00000005949

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CTNS 140 171 6.43e-12 SMART
transmembrane domain 206 225 N/A INTRINSIC
transmembrane domain 238 257 N/A INTRINSIC
CTNS 279 310 1.47e-6 SMART
transmembrane domain 338 357 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000131927
AA Change: L79P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123639
Gene: ENSMUSG00000005951
AA Change: L79P

DomainStartEndE-ValueType
Pfam:FGGY_N 6 109 3.7e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150468
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A T 5: 105,109,052 (GRCm39) V415D possibly damaging Het
Adcy3 C T 12: 4,262,118 (GRCm39) A1056V probably damaging Het
Adcy5 G A 16: 35,092,468 (GRCm39) A610T probably damaging Het
Arhgap21 G A 2: 20,884,813 (GRCm39) T788I probably benign Het
Asic1 T C 15: 99,592,567 (GRCm39) probably benign Het
Cdhr4 T A 9: 107,870,199 (GRCm39) M68K probably benign Het
Cdhr5 G T 7: 140,849,894 (GRCm39) T637K probably damaging Het
Corin A T 5: 72,529,489 (GRCm39) C289S probably damaging Het
Cpne4 T C 9: 104,563,701 (GRCm39) V26A probably damaging Het
Csmd1 T C 8: 16,261,773 (GRCm39) D908G probably null Het
Cyp2c29 A G 19: 39,296,064 (GRCm39) D126G probably damaging Het
Ddx42 G A 11: 106,129,986 (GRCm39) S426N probably benign Het
Dnah1 C T 14: 31,026,958 (GRCm39) V689M possibly damaging Het
Dtwd1 A G 2: 126,006,715 (GRCm39) T246A probably damaging Het
Fbn1 A T 2: 125,205,889 (GRCm39) M1036K probably damaging Het
Fbxo10 T C 4: 45,048,527 (GRCm39) N536S probably benign Het
Gnal G A 18: 67,350,279 (GRCm39) probably benign Het
Gns A G 10: 121,226,598 (GRCm39) T416A probably benign Het
Heatr5b G A 17: 79,124,943 (GRCm39) T603I probably damaging Het
Hsp90b1 T A 10: 86,527,548 (GRCm39) probably benign Het
Krt23 C T 11: 99,383,836 (GRCm39) G19R probably benign Het
Lama2 C T 10: 27,014,956 (GRCm39) R1584H probably benign Het
Lmbr1l C T 15: 98,815,772 (GRCm39) V11M probably damaging Het
Man1a2 T C 3: 100,489,447 (GRCm39) K511E possibly damaging Het
Mrgpra3 C A 7: 47,239,204 (GRCm39) V241F possibly damaging Het
Myh3 A G 11: 66,973,750 (GRCm39) D141G probably benign Het
Mylk2 G A 2: 152,757,056 (GRCm39) C277Y probably damaging Het
Myo3b A T 2: 70,069,173 (GRCm39) T471S probably damaging Het
Naip1 A G 13: 100,562,096 (GRCm39) V1023A probably benign Het
Olfm5 T A 7: 103,803,438 (GRCm39) T342S probably benign Het
Or10g1 A G 14: 52,647,511 (GRCm39) F273L probably benign Het
Or2f1b T A 6: 42,739,394 (GRCm39) M136K probably damaging Het
Pglyrp4 T C 3: 90,642,910 (GRCm39) F263L probably benign Het
Plekhh2 A T 17: 84,906,608 (GRCm39) T1148S possibly damaging Het
Prrc2b T C 2: 32,081,513 (GRCm39) probably benign Het
Rbm28 G T 6: 29,138,617 (GRCm39) D398E possibly damaging Het
Rnf220 A G 4: 117,130,524 (GRCm39) F234L probably benign Het
Sele T C 1: 163,880,662 (GRCm39) S415P probably benign Het
Slc35f4 C T 14: 49,543,703 (GRCm39) A148T probably damaging Het
Slc6a20a G A 9: 123,489,684 (GRCm39) P120S possibly damaging Het
Slc8a2 A G 7: 15,891,081 (GRCm39) E701G possibly damaging Het
Slco1a1 T A 6: 141,885,765 (GRCm39) I87F possibly damaging Het
Srebf1 T G 11: 60,093,650 (GRCm39) D739A probably damaging Het
Thg1l A G 11: 45,841,055 (GRCm39) Y175H probably benign Het
Traf3ip2 G A 10: 39,530,475 (GRCm39) V540M probably damaging Het
Wdr48 A G 9: 119,753,329 (GRCm39) D644G probably damaging Het
Zbtb1 A T 12: 76,433,371 (GRCm39) K452N probably damaging Het
Zfhx2 C T 14: 55,300,351 (GRCm39) G2467R probably damaging Het
Zfp334 A T 2: 165,223,643 (GRCm39) Y133* probably null Het
Other mutations in Shpk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03411:Shpk APN 11 73,105,861 (GRCm39) missense probably benign 0.25
R0125:Shpk UTSW 11 73,105,048 (GRCm39) splice site probably benign
R0826:Shpk UTSW 11 73,094,857 (GRCm39) missense probably damaging 1.00
R1055:Shpk UTSW 11 73,105,945 (GRCm39) missense probably benign
R1670:Shpk UTSW 11 73,113,757 (GRCm39) missense probably benign 0.00
R2077:Shpk UTSW 11 73,094,785 (GRCm39) missense probably damaging 1.00
R2263:Shpk UTSW 11 73,097,319 (GRCm39) critical splice donor site probably benign
R5281:Shpk UTSW 11 73,105,946 (GRCm39) missense probably benign 0.06
R5443:Shpk UTSW 11 73,113,607 (GRCm39) missense possibly damaging 0.94
R5461:Shpk UTSW 11 73,090,361 (GRCm39) missense probably benign 0.08
R6063:Shpk UTSW 11 73,104,270 (GRCm39) nonsense probably null
R6424:Shpk UTSW 11 73,104,318 (GRCm39) missense possibly damaging 0.50
R7150:Shpk UTSW 11 73,104,315 (GRCm39) missense probably damaging 0.99
R7176:Shpk UTSW 11 73,113,814 (GRCm39) missense probably benign 0.05
R7255:Shpk UTSW 11 73,090,486 (GRCm39) missense probably benign 0.00
R8196:Shpk UTSW 11 73,094,775 (GRCm39) missense probably benign 0.03
R8203:Shpk UTSW 11 73,104,904 (GRCm39) missense probably benign 0.01
R9220:Shpk UTSW 11 73,113,996 (GRCm39) makesense probably null
R9589:Shpk UTSW 11 73,104,267 (GRCm39) missense possibly damaging 0.90
R9632:Shpk UTSW 11 73,104,238 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16