Incidental Mutation 'R6424:Shpk'
| ID |
518269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shpk
|
| Ensembl Gene |
ENSMUSG00000005951 |
| Gene Name |
sedoheptulokinase |
| Synonyms |
4930431K22Rik, Carkl |
| MMRRC Submission |
044387-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6424 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
73090286-73115337 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73104318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 156
(I156F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006105]
[ENSMUST00000131927]
|
| AlphaFold |
Q9D5J6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006105
AA Change: I156F
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000006105
Gene: ENSMUSG00000005951
AA Change: I156F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FGGY_N
|
6 |
264 |
3.4e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131927
|
| SMART Domains |
Protein: ENSMUSP00000123639
Gene: ENSMUSG00000005951
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FGGY_N
|
6 |
109 |
3.7e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,460,542 (GRCm39) |
V4184A |
probably benign |
Het |
| Acvr2b |
T |
A |
9: 119,231,645 (GRCm39) |
W12R |
probably benign |
Het |
| Arap2 |
T |
C |
5: 62,840,707 (GRCm39) |
K720E |
probably damaging |
Het |
| Cr1l |
A |
C |
1: 194,800,123 (GRCm39) |
F184V |
probably damaging |
Het |
| Haus8 |
C |
T |
8: 71,704,080 (GRCm39) |
W359* |
probably null |
Het |
| Insm2 |
A |
T |
12: 55,646,867 (GRCm39) |
I204F |
probably damaging |
Het |
| Katnb1 |
T |
A |
8: 95,820,144 (GRCm39) |
I97N |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,453,946 (GRCm39) |
K945N |
possibly damaging |
Het |
| Meltf |
T |
A |
16: 31,699,080 (GRCm39) |
C63* |
probably null |
Het |
| Nbas |
T |
C |
12: 13,465,734 (GRCm39) |
|
probably null |
Het |
| Or5p1 |
G |
A |
7: 107,916,412 (GRCm39) |
V104I |
probably benign |
Het |
| Raf1 |
T |
C |
6: 115,596,542 (GRCm39) |
E594G |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Scgb2b19 |
A |
C |
7: 32,978,022 (GRCm39) |
S92A |
possibly damaging |
Het |
| Serpinb3c |
T |
A |
1: 107,199,359 (GRCm39) |
*387Y |
probably null |
Het |
| Smarcd1 |
T |
C |
15: 99,602,248 (GRCm39) |
F128L |
probably damaging |
Het |
| Tars3 |
G |
A |
7: 65,305,487 (GRCm39) |
G237E |
probably damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,719,848 (GRCm39) |
|
probably benign |
Het |
| Vmn1r223 |
T |
A |
13: 23,434,345 (GRCm39) |
I313N |
probably damaging |
Het |
|
| Other mutations in Shpk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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'- AGGAGGTTCAAGGATGTGCC -3'
(R):5'- GACCAAATCTGAACCTTGTAACTCC -3'
Sequencing Primer
(F):5'- GTGCCTATACACACTCAGTACTG -3'
(R):5'- TGTAACTCCACCTTGCACCAGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation