Incidental Mutation 'IGL01515:Ky'
| ID |
89346 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ky
|
| Ensembl Gene |
ENSMUSG00000035606 |
| Gene Name |
kyphoscoliosis peptidase |
| Synonyms |
D9Mgc44e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.242)
|
| Stock # |
IGL01515
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
102382954-102423443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102419304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 437
(Y437C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039390]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039390
AA Change: Y437C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036032
Gene: ENSMUSG00000035606
AA Change: Y437C
| Domain | Start | End | E-Value | Type |
|---|
|
TGc
|
217 |
285 |
1.9e-14 |
SMART |
|
| Coding Region Coverage |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
T |
15: 91,047,289 (GRCm39) |
V588E |
probably damaging |
Het |
| Ar |
C |
T |
X: 97,295,453 (GRCm39) |
|
probably benign |
Het |
| B4galt7 |
C |
A |
13: 55,757,035 (GRCm39) |
Q243K |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,866,051 (GRCm39) |
T284S |
probably benign |
Het |
| Chdh |
G |
A |
14: 29,758,843 (GRCm39) |
R596H |
probably damaging |
Het |
| Cyp2r1 |
T |
C |
7: 114,151,947 (GRCm39) |
|
probably benign |
Het |
| Cyp3a44 |
A |
T |
5: 145,736,228 (GRCm39) |
L74* |
probably null |
Het |
| Dnah8 |
A |
T |
17: 30,867,459 (GRCm39) |
I304L |
probably benign |
Het |
| Fam171b |
G |
A |
2: 83,710,577 (GRCm39) |
E750K |
probably damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,651,642 (GRCm39) |
E554D |
probably benign |
Het |
| Fnd3c2 |
T |
C |
X: 105,282,093 (GRCm39) |
K721E |
probably damaging |
Het |
| Gpam |
A |
G |
19: 55,075,883 (GRCm39) |
L243P |
probably damaging |
Het |
| Heph |
A |
G |
X: 95,601,706 (GRCm39) |
E1032G |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 67,857,200 (GRCm39) |
V1054E |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,679,340 (GRCm39) |
S331G |
possibly damaging |
Het |
| Ints11 |
A |
T |
4: 155,959,689 (GRCm39) |
I99F |
probably damaging |
Het |
| Jak3 |
G |
A |
8: 72,133,206 (GRCm39) |
|
probably null |
Het |
| Lin28a |
A |
G |
4: 133,746,020 (GRCm39) |
|
probably null |
Het |
| Macc1 |
A |
C |
12: 119,414,106 (GRCm39) |
K761Q |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,172,655 (GRCm39) |
D1194G |
probably benign |
Het |
| Naga |
C |
A |
15: 82,214,360 (GRCm39) |
V384F |
probably benign |
Het |
| Necab3 |
A |
T |
2: 154,396,611 (GRCm39) |
S72T |
probably damaging |
Het |
| Or4a27 |
G |
A |
2: 88,559,352 (GRCm39) |
T197I |
probably benign |
Het |
| Or51i2 |
A |
G |
7: 103,689,183 (GRCm39) |
Y60C |
probably benign |
Het |
| Ptpn13 |
C |
T |
5: 103,703,979 (GRCm39) |
S1337L |
probably benign |
Het |
| Slitrk2 |
C |
T |
X: 65,699,248 (GRCm39) |
P580S |
probably damaging |
Het |
| Tpsg1 |
A |
G |
17: 25,592,936 (GRCm39) |
D67G |
probably damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,742,739 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ky |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2322:Ky
|
UTSW |
9 |
102,414,990 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
| Posted On |
2013-12-03 |
Incidental Mutation