Incidental Mutation 'R5461:Shpk'
ID 433038
Institutional Source Beutler Lab
Gene Symbol Shpk
Ensembl Gene ENSMUSG00000005951
Gene Name sedoheptulokinase
Synonyms 4930431K22Rik, Carkl
MMRRC Submission 043023-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5461 (G1)
Quality Score 152
Status Validated
Chromosome 11
Chromosomal Location 73090286-73115337 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73090361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 6 (V6A)
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 benign
Transcript: ENSMUST00000006105
AA Change: V6A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000006105
Gene: ENSMUSG00000005951
AA Change: V6A

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 benign
Transcript: ENSMUST00000131927
AA Change: V6A

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000123639
Gene: ENSMUSG00000005951
AA Change: V6A

DomainStartEndE-ValueType
Pfam:FGGY_N 6 109 3.7e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150468
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (57/57)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,884,643 (GRCm39) I405K possibly damaging Het
4930562C15Rik G A 16: 4,682,227 (GRCm39) G180E probably damaging Het
Adgrg6 A T 10: 14,296,248 (GRCm39) W1079R probably damaging Het
Arsa T C 15: 89,357,478 (GRCm39) H495R probably benign Het
Bptf T C 11: 106,952,590 (GRCm39) T2088A probably damaging Het
Brsk2 T C 7: 141,541,643 (GRCm39) L152P probably damaging Het
C8a T C 4: 104,673,042 (GRCm39) probably benign Het
Ccdc177 G A 12: 80,804,816 (GRCm39) A486V unknown Het
Cpa2 A G 6: 30,544,180 (GRCm39) T38A probably benign Het
Crim1 T G 17: 78,545,236 (GRCm39) C133G probably damaging Het
Dnah2 C T 11: 69,364,177 (GRCm39) probably null Het
Ep400 G A 5: 110,824,550 (GRCm39) Q2392* probably null Het
Exoc2 C T 13: 31,109,738 (GRCm39) S210N possibly damaging Het
Gm7003 A G 12: 113,766,847 (GRCm39) probably benign Het
Hydin A G 8: 111,245,863 (GRCm39) K2192R probably damaging Het
Ica1l T C 1: 60,053,010 (GRCm39) D176G probably damaging Het
Ints10 G A 8: 69,246,693 (GRCm39) E8K possibly damaging Het
Itgb8 T C 12: 119,131,740 (GRCm39) E635G probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Kng1 A G 16: 22,897,887 (GRCm39) H429R probably benign Het
Mcm3 T C 1: 20,884,661 (GRCm39) I281V probably benign Het
Msi1 T C 5: 115,579,450 (GRCm39) S200P possibly damaging Het
Nat3 T C 8: 68,000,514 (GRCm39) L131P probably damaging Het
Ncor2 T C 5: 125,104,177 (GRCm39) E1752G probably damaging Het
Nnt C T 13: 119,505,131 (GRCm39) A414T possibly damaging Het
Nrp2 C T 1: 62,786,370 (GRCm39) Q292* probably null Het
Or51ah3 T A 7: 103,209,780 (GRCm39) L32Q probably damaging Het
Or52k2 G A 7: 102,253,615 (GRCm39) G18D probably damaging Het
Otop1 A T 5: 38,457,059 (GRCm39) I273F probably damaging Het
Phactr3 T A 2: 177,920,694 (GRCm39) N177K probably benign Het
Pik3c2b C T 1: 133,027,440 (GRCm39) T1313I possibly damaging Het
Pikfyve C A 1: 65,274,192 (GRCm39) D677E probably damaging Het
Poc1a T C 9: 106,165,209 (GRCm39) F157L probably damaging Het
Prodh2 G T 7: 30,193,948 (GRCm39) R185L possibly damaging Het
Rcc1 T C 4: 132,061,497 (GRCm39) I350M probably benign Het
Rhd G A 4: 134,611,928 (GRCm39) A249T probably damaging Het
Rtf2 A G 2: 172,287,252 (GRCm39) Y57C probably damaging Het
Shmt1 A G 11: 60,685,725 (GRCm39) S284P possibly damaging Het
Slc4a5 T C 6: 83,262,836 (GRCm39) V661A probably benign Het
Spesp1 A T 9: 62,180,014 (GRCm39) L298Q probably damaging Het
Tas1r2 C A 4: 139,387,320 (GRCm39) Q231K probably benign Het
Tcp11l1 T C 2: 104,518,856 (GRCm39) Y280C probably benign Het
Tnip1 T C 11: 54,801,625 (GRCm39) probably benign Het
Topbp1 T A 9: 103,192,395 (GRCm39) D295E probably benign Het
Unc79 C T 12: 103,078,397 (GRCm39) L1521F probably damaging Het
Usp10 T C 8: 120,683,406 (GRCm39) I759T probably benign Het
Vmn1r30 A T 6: 58,412,759 (GRCm39) C24* probably null Het
Vmn2r104 T A 17: 20,250,343 (GRCm39) I643F probably damaging Het
Wwc1 T A 11: 35,758,199 (GRCm39) T716S probably damaging Het
Zfp949 C T 9: 88,451,537 (GRCm39) T369M probably benign Het
Zhx3 A G 2: 160,621,938 (GRCm39) V743A probably benign Het
Other mutations in Shpk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02097:Shpk APN 11 73,094,821 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATAGATCCCGCCTTCTGTCG -3'
(R):5'- CAATCACGGGTACTTCTTCGCG -3'

Sequencing Primer
(F):5'- TCTCCACCTATCACCGGAG -3'
(R):5'- AAGGTGTTGCCCGAGATGC -3'
Posted On 2016-10-06