Incidental Mutation 'IGL03411:Shpk'
| ID |
421793 |
| 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)
|
| Stock # |
IGL03411
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
73090286-73115337 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73105861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 238
(T238A)
|
| 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: T238A
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000006105
Gene: ENSMUSG00000005951
AA Change: T238A
| 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,218,310 (GRCm39) |
I305T |
probably damaging |
Het |
| Adamts18 |
G |
A |
8: 114,490,929 (GRCm39) |
Q513* |
probably null |
Het |
| Adamts6 |
A |
G |
13: 104,450,842 (GRCm39) |
I342V |
possibly damaging |
Het |
| Agtr1a |
A |
G |
13: 30,565,582 (GRCm39) |
T216A |
possibly damaging |
Het |
| Coro1b |
A |
G |
19: 4,200,225 (GRCm39) |
|
probably benign |
Het |
| Cyp4a10 |
G |
A |
4: 115,382,890 (GRCm39) |
|
probably null |
Het |
| Cyp4x1 |
T |
A |
4: 114,965,982 (GRCm39) |
Q448L |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,430,916 (GRCm39) |
|
probably null |
Het |
| Exoc1 |
C |
A |
5: 76,690,042 (GRCm39) |
A194D |
probably damaging |
Het |
| Fastkd1 |
A |
C |
2: 69,537,703 (GRCm39) |
V293G |
probably damaging |
Het |
| Gm5773 |
T |
C |
3: 93,681,264 (GRCm39) |
L312P |
probably damaging |
Het |
| Hhla1 |
A |
G |
15: 65,802,078 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
A |
T |
2: 31,236,649 (GRCm39) |
E397D |
possibly damaging |
Het |
| Lig1 |
C |
T |
7: 13,030,694 (GRCm39) |
R449C |
probably damaging |
Het |
| Mdc1 |
A |
G |
17: 36,164,018 (GRCm39) |
T1189A |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,575,436 (GRCm39) |
M1397I |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,980,330 (GRCm39) |
E1484G |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,182,890 (GRCm39) |
I1019V |
probably benign |
Het |
| Nid1 |
T |
C |
13: 13,612,474 (GRCm39) |
L63P |
probably damaging |
Het |
| Ogfod3 |
A |
T |
11: 121,068,630 (GRCm39) |
*316R |
probably null |
Het |
| Or6z7 |
T |
C |
7: 6,483,435 (GRCm39) |
K240R |
probably benign |
Het |
| Pdpk1 |
A |
T |
17: 24,320,618 (GRCm39) |
V193E |
probably damaging |
Het |
| Phf3 |
G |
T |
1: 30,843,482 (GRCm39) |
P1826T |
probably damaging |
Het |
| Pnliprp2 |
A |
G |
19: 58,748,847 (GRCm39) |
I51V |
probably benign |
Het |
| Prpf4b |
C |
T |
13: 35,079,342 (GRCm39) |
L739F |
probably damaging |
Het |
| Rcbtb1 |
T |
A |
14: 59,447,419 (GRCm39) |
M1K |
probably null |
Het |
| Rin2 |
A |
G |
2: 145,702,864 (GRCm39) |
E520G |
probably damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Tmem132d |
A |
T |
5: 128,061,347 (GRCm39) |
Y418* |
probably null |
Het |
| Tpte |
T |
C |
8: 22,815,553 (GRCm39) |
V212A |
possibly damaging |
Het |
| Trim55 |
A |
T |
3: 19,713,354 (GRCm39) |
Y135F |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,598,456 (GRCm39) |
A19486T |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,708,340 (GRCm39) |
N22K |
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,577,368 (GRCm39) |
D390G |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,806,634 (GRCm39) |
E527G |
possibly damaging |
Het |
| Vps13d |
C |
T |
4: 144,875,894 (GRCm39) |
E1538K |
probably damaging |
Het |
| Zfp64 |
T |
C |
2: 168,793,462 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
A |
G |
8: 79,803,116 (GRCm39) |
S563G |
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 |
|
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 |
2016-08-02 |
Incidental Mutation