Incidental Mutation 'R5281:Shpk'
| ID |
402789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shpk
|
| Ensembl Gene |
ENSMUSG00000005951 |
| Gene Name |
sedoheptulokinase |
| Synonyms |
4930431K22Rik, Carkl |
| MMRRC Submission |
042866-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5281 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
73090286-73115337 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73105946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 266
(M266T)
|
| 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: M266T
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000006105
Gene: ENSMUSG00000005951
AA Change: M266T
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
A |
G |
7: 82,178,142 (GRCm39) |
H535R |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,263,115 (GRCm39) |
E45G |
probably damaging |
Het |
| Ano10 |
A |
G |
9: 122,090,552 (GRCm39) |
S254P |
probably damaging |
Het |
| Arhgap21 |
T |
A |
2: 20,854,127 (GRCm39) |
E1745V |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,145,163 (GRCm39) |
L1302P |
probably damaging |
Het |
| Btn2a2 |
A |
G |
13: 23,663,002 (GRCm39) |
V316A |
probably damaging |
Het |
| C2cd4c |
G |
A |
10: 79,448,878 (GRCm39) |
P90S |
probably benign |
Het |
| Cant1 |
A |
T |
11: 118,299,696 (GRCm39) |
W255R |
probably damaging |
Het |
| Cenpe |
A |
C |
3: 134,935,911 (GRCm39) |
K449Q |
possibly damaging |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Dmbt1 |
T |
C |
7: 130,684,349 (GRCm39) |
V615A |
probably damaging |
Het |
| Dnajc5b |
T |
C |
3: 19,664,724 (GRCm39) |
V174A |
probably benign |
Het |
| Dst |
C |
A |
1: 34,296,863 (GRCm39) |
H5751N |
probably benign |
Het |
| Eif2d |
A |
G |
1: 131,101,080 (GRCm39) |
E562G |
probably damaging |
Het |
| Epha10 |
A |
T |
4: 124,807,781 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
C |
T |
1: 77,351,504 (GRCm39) |
G917D |
probably benign |
Het |
| Fap |
C |
T |
2: 62,363,305 (GRCm39) |
|
probably null |
Het |
| Fsd2 |
T |
C |
7: 81,202,733 (GRCm39) |
E282G |
probably benign |
Het |
| Gls |
A |
T |
1: 52,230,316 (GRCm39) |
M136K |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gusb |
T |
C |
5: 130,027,367 (GRCm39) |
T313A |
probably benign |
Het |
| Ints7 |
T |
C |
1: 191,347,883 (GRCm39) |
Y752H |
possibly damaging |
Het |
| Krt17 |
G |
A |
11: 100,151,527 (GRCm39) |
Q89* |
probably null |
Het |
| Mfsd4b4 |
T |
C |
10: 39,768,467 (GRCm39) |
I209V |
probably benign |
Het |
| Nr0b2 |
A |
G |
4: 133,283,335 (GRCm39) |
I191V |
probably benign |
Het |
| Or51af1 |
T |
C |
7: 103,141,180 (GRCm39) |
I302V |
probably benign |
Het |
| Pcdhb21 |
T |
C |
18: 37,646,988 (GRCm39) |
M39T |
probably benign |
Het |
| Pds5b |
T |
G |
5: 150,670,073 (GRCm39) |
Y354D |
probably benign |
Het |
| She |
A |
G |
3: 89,756,888 (GRCm39) |
D314G |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slfn4 |
T |
G |
11: 83,078,025 (GRCm39) |
V271G |
probably damaging |
Het |
| Slitrk6 |
C |
T |
14: 110,987,805 (GRCm39) |
R634H |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,750,313 (GRCm39) |
F1555L |
probably benign |
Het |
| Vldlr |
A |
C |
19: 27,221,631 (GRCm39) |
E665D |
probably benign |
Het |
| Whrn |
T |
C |
4: 63,336,664 (GRCm39) |
T633A |
probably benign |
Het |
| Xylt2 |
A |
G |
11: 94,559,616 (GRCm39) |
V342A |
probably benign |
Het |
| Zfp800 |
A |
T |
6: 28,243,165 (GRCm39) |
V600E |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTTCCAGGAACCGGTAAAAGC -3'
(R):5'- AGTAAAGCCCAGGTGGTCAG -3'
Sequencing Primer
(F):5'- ACGCGAATGCTATTGCTCAC -3'
(R):5'- CAGGGATGAAGGTGTTTCCAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation