Incidental Mutation 'R8203:Shpk'
ID 635776
Institutional Source Beutler Lab
Gene Symbol Shpk
Ensembl Gene ENSMUSG00000005951
Gene Name sedoheptulokinase
Synonyms 4930431K22Rik, Carkl
MMRRC Submission 067626-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8203 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 73090286-73115337 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 73104904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 171 (D171A)
Ref Sequence ENSEMBL: ENSMUSP00000006105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006105] [ENSMUST00000131927]
AlphaFold Q9D5J6
Predicted Effect probably benign
Transcript: ENSMUST00000006105
AA Change: D171A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000006105
Gene: ENSMUSG00000005951
AA Change: D171A

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

DomainStartEndE-ValueType
Pfam:FGGY_N 6 109 3.7e-14 PFAM
Meta Mutation Damage Score 0.2376 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (53/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,075,369 (GRCm39) I148T probably benign Het
Agbl3 A G 6: 34,776,414 (GRCm39) T307A probably damaging Het
Ahsa1 A G 12: 87,315,042 (GRCm39) D65G probably damaging Het
Aicda T C 6: 122,538,076 (GRCm39) V78A possibly damaging Het
Arhgef5 A G 6: 43,257,579 (GRCm39) D1282G probably damaging Het
Atf7ip T C 6: 136,583,781 (GRCm39) S1271P probably damaging Het
Atrn G A 2: 130,802,469 (GRCm39) D537N probably benign Het
Brd10 A T 19: 29,693,443 (GRCm39) S2017T probably benign Het
Cep170 T A 1: 176,596,877 (GRCm39) Q493H probably benign Het
Cltc A T 11: 86,594,986 (GRCm39) Y1371N possibly damaging Het
Col12a1 T C 9: 79,588,831 (GRCm39) T1095A possibly damaging Het
Cxcr5 T C 9: 44,425,451 (GRCm39) M69V probably benign Het
Cyp2c69 A T 19: 39,869,584 (GRCm39) V145E probably damaging Het
Ddx3y T C Y: 1,269,827 (GRCm39) E185G probably benign Het
Dgke G A 11: 88,941,193 (GRCm39) A330V probably benign Het
Dyrk4 A G 6: 126,871,797 (GRCm39) L157P probably damaging Het
Ermard T A 17: 15,240,548 (GRCm39) S337R possibly damaging Het
Etl4 A T 2: 20,789,916 (GRCm39) M805L possibly damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Fmn1 T A 2: 113,355,620 (GRCm39) M785K unknown Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Gabrg3 G A 7: 56,423,008 (GRCm39) T230I possibly damaging Het
Gle1 A G 2: 29,825,522 (GRCm39) D4G probably benign Het
Gm5468 T C 15: 25,414,527 (GRCm39) S26P noncoding transcript Het
Igsf10 A T 3: 59,236,254 (GRCm39) L1309Q probably benign Het
Lipf A G 19: 33,944,283 (GRCm39) K164R probably benign Het
Luc7l C A 17: 26,485,333 (GRCm39) T111K possibly damaging Het
Masp2 A G 4: 148,696,599 (GRCm39) T399A probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naip1 T C 13: 100,562,328 (GRCm39) I946V probably benign Het
Neb T A 2: 52,039,259 (GRCm39) K6927* probably null Het
Nipal4 A T 11: 46,041,147 (GRCm39) D349E probably damaging Het
Or12j2 A T 7: 139,915,939 (GRCm39) T55S probably benign Het
Or5al7 T A 2: 85,992,844 (GRCm39) I150F probably benign Het
Or7g22 A G 9: 19,049,170 (GRCm39) N294D probably damaging Het
Pdik1l A T 4: 134,006,676 (GRCm39) H154Q unknown Het
Polr2m T G 9: 71,386,768 (GRCm39) M338L probably benign Het
Rab3gap2 T C 1: 184,999,376 (GRCm39) L995P probably damaging Het
Rnf17 T A 14: 56,705,179 (GRCm39) H694Q probably benign Het
Sar1b A G 11: 51,670,524 (GRCm39) K23E probably benign Het
Setd7 A T 3: 51,437,519 (GRCm39) Y245* probably null Het
Slc2a7 G T 4: 150,243,015 (GRCm39) E279* probably null Het
Slco4a1 T C 2: 180,106,592 (GRCm39) V258A probably damaging Het
Srcin1 G T 11: 97,457,539 (GRCm39) P62Q probably damaging Het
Tbc1d2 A G 4: 46,606,476 (GRCm39) F823S probably damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tdrd9 T A 12: 111,992,064 (GRCm39) V613E probably damaging Het
Tsc1 A G 2: 28,563,007 (GRCm39) probably null Het
Ulk4 A T 9: 120,997,274 (GRCm39) M766K probably damaging Het
Wdr36 G T 18: 32,985,136 (GRCm39) G481* probably null Het
Yme1l1 G A 2: 23,054,538 (GRCm39) R119H probably benign Het
Zfp106 G A 2: 120,349,559 (GRCm39) T1644I probably damaging 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
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
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'- CTCACAGTATTGAGGCTCAGTG -3'
(R):5'- ACAGACAGACTTGCTCAGTG -3'

Sequencing Primer
(F):5'- ACAGTATTGAGGCTCAGTGTGTGG -3'
(R):5'- TGACCAGTGAAAGCTCCATG -3'
Posted On 2020-07-13