Incidental Mutation 'R2322:Ky'
| ID |
244780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ky
|
| Ensembl Gene |
ENSMUSG00000035606 |
| Gene Name |
kyphoscoliosis peptidase |
| Synonyms |
D9Mgc44e |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.280)
|
| Stock # |
R2322 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
102382954-102423443 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 102414990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039390]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039390
|
| SMART Domains |
Protein: ENSMUSP00000036032
Gene: ENSMUSG00000035606
| Domain | Start | End | E-Value | Type |
|---|
|
TGc
|
217 |
285 |
1.9e-14 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit severe degenerative myopathy involving postural muscles, resulting in thoraco-lumbar kyphoscoliosis with degenerative changes in intervertebral discs. Body weight is reduced and breathing is irregular. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| AY358078 |
A |
G |
14: 52,042,147 (GRCm39) |
Y174C |
unknown |
Het |
| Bod1l |
A |
T |
5: 41,984,463 (GRCm39) |
V529E |
probably benign |
Het |
| Brinp3 |
A |
G |
1: 146,577,492 (GRCm39) |
T176A |
probably benign |
Het |
| Ccn2 |
T |
C |
10: 24,472,732 (GRCm39) |
M214T |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,467,922 (GRCm39) |
I272L |
probably benign |
Het |
| Cnr1 |
A |
G |
4: 33,944,514 (GRCm39) |
K301E |
probably damaging |
Het |
| Elavl1 |
A |
T |
8: 4,339,802 (GRCm39) |
L260H |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,248,274 (GRCm39) |
Y275C |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 8,007,847 (GRCm39) |
S96P |
probably damaging |
Het |
| Hykk |
G |
A |
9: 54,853,418 (GRCm39) |
G247S |
probably benign |
Het |
| Mcu |
A |
C |
10: 59,290,766 (GRCm39) |
|
probably null |
Het |
| Or2y17 |
T |
G |
11: 49,231,476 (GRCm39) |
L39R |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,118 (GRCm39) |
C104R |
possibly damaging |
Het |
| Ppp4r3a |
C |
T |
12: 101,008,878 (GRCm39) |
R667Q |
probably damaging |
Het |
| Ptprj |
T |
C |
2: 90,301,473 (GRCm39) |
T220A |
probably benign |
Het |
| St18 |
T |
A |
1: 6,914,348 (GRCm39) |
C766* |
probably null |
Het |
| St8sia4 |
C |
T |
1: 95,581,463 (GRCm39) |
R93H |
probably damaging |
Het |
| Tcim |
G |
C |
8: 24,928,726 (GRCm39) |
R63G |
probably damaging |
Het |
| Xylb |
T |
C |
9: 119,217,813 (GRCm39) |
S488P |
possibly damaging |
Het |
| Zhx3 |
T |
C |
2: 160,623,948 (GRCm39) |
D73G |
probably damaging |
Het |
|
| Other mutations in Ky |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01515:Ky
|
APN |
9 |
102,419,304 (GRCm39) |
missense |
probably benign |
|
|
IGL02197:Ky
|
APN |
9 |
102,414,985 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
PIT4802001:Ky
|
UTSW |
9 |
102,414,972 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0384:Ky
|
UTSW |
9 |
102,419,289 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0620:Ky
|
UTSW |
9 |
102,414,820 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1099:Ky
|
UTSW |
9 |
102,414,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Ky
|
UTSW |
9 |
102,419,126 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2075:Ky
|
UTSW |
9 |
102,419,945 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2415:Ky
|
UTSW |
9 |
102,419,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3950:Ky
|
UTSW |
9 |
102,419,627 (GRCm39) |
nonsense |
probably null |
|
|
R4419:Ky
|
UTSW |
9 |
102,419,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Ky
|
UTSW |
9 |
102,419,186 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5261:Ky
|
UTSW |
9 |
102,414,798 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5529:Ky
|
UTSW |
9 |
102,419,274 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6857:Ky
|
UTSW |
9 |
102,419,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6931:Ky
|
UTSW |
9 |
102,414,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7205:Ky
|
UTSW |
9 |
102,419,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7211:Ky
|
UTSW |
9 |
102,386,349 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7570:Ky
|
UTSW |
9 |
102,419,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7642:Ky
|
UTSW |
9 |
102,419,469 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7644:Ky
|
UTSW |
9 |
102,414,972 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7910:Ky
|
UTSW |
9 |
102,419,141 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7988:Ky
|
UTSW |
9 |
102,402,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8708:Ky
|
UTSW |
9 |
102,402,590 (GRCm39) |
splice site |
probably benign |
|
|
R8726:Ky
|
UTSW |
9 |
102,405,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9146:Ky
|
UTSW |
9 |
102,419,405 (GRCm39) |
missense |
|
|
|
R9709:Ky
|
UTSW |
9 |
102,419,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCACTCAAGCCCCTTCTCAG -3'
(R):5'- ATTCAGCTCCTTGCAAGCG -3'
Sequencing Primer
(F):5'- ATGTCCCATCCCCAGGGTTG -3'
(R):5'- CGACCTGGAACCAGCTTTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation