Incidental Mutation 'R4419:Ky'
ID |
327004 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ky
|
Ensembl Gene |
ENSMUSG00000035606 |
Gene Name |
kyphoscoliosis peptidase |
Synonyms |
D9Mgc44e |
MMRRC Submission |
041140-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.280)
|
Stock # |
R4419 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
102382954-102423443 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 102419909 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 639
(V639I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036032
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039390]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039390
AA Change: V639I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036032 Gene: ENSMUSG00000035606 AA Change: V639I
Domain | Start | End | E-Value | Type |
TGc
|
217 |
285 |
1.9e-14 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amdhd2 |
G |
A |
17: 24,377,652 (GRCm39) |
P126L |
probably benign |
Het |
Arfip2 |
T |
C |
7: 105,288,270 (GRCm39) |
T44A |
probably damaging |
Het |
B4galt1 |
A |
G |
4: 40,853,537 (GRCm39) |
V90A |
probably benign |
Het |
Bad |
C |
A |
19: 6,928,053 (GRCm39) |
A115E |
probably benign |
Het |
Bicc1 |
A |
G |
10: 70,782,804 (GRCm39) |
L521P |
possibly damaging |
Het |
Caskin1 |
T |
C |
17: 24,723,683 (GRCm39) |
S824P |
probably damaging |
Het |
Cblb |
T |
A |
16: 51,867,621 (GRCm39) |
D76E |
possibly damaging |
Het |
Celsr3 |
G |
T |
9: 108,720,443 (GRCm39) |
A2572S |
possibly damaging |
Het |
Csmd3 |
T |
C |
15: 47,567,707 (GRCm39) |
Q2152R |
probably damaging |
Het |
D2hgdh |
T |
A |
1: 93,757,535 (GRCm39) |
V150E |
probably damaging |
Het |
Ddn |
C |
A |
15: 98,703,492 (GRCm39) |
W600L |
probably benign |
Het |
Dicer1 |
A |
T |
12: 104,671,373 (GRCm39) |
Y966N |
probably damaging |
Het |
Dsp |
T |
A |
13: 38,379,108 (GRCm39) |
I1352N |
probably damaging |
Het |
Duox1 |
G |
A |
2: 122,157,607 (GRCm39) |
A578T |
probably benign |
Het |
Dysf |
T |
C |
6: 84,184,224 (GRCm39) |
|
probably null |
Het |
Elmo2 |
T |
C |
2: 165,153,675 (GRCm39) |
|
probably null |
Het |
Heg1 |
A |
T |
16: 33,547,805 (GRCm39) |
E864V |
probably benign |
Het |
Hoxb9 |
T |
C |
11: 96,162,807 (GRCm39) |
V147A |
probably benign |
Het |
Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
Med16 |
G |
A |
10: 79,734,216 (GRCm39) |
A566V |
probably benign |
Het |
Mettl17 |
G |
T |
14: 52,124,729 (GRCm39) |
G167C |
possibly damaging |
Het |
Mgat4b |
T |
C |
11: 50,123,813 (GRCm39) |
F318L |
probably damaging |
Het |
Mug2 |
C |
A |
6: 122,056,589 (GRCm39) |
A1178D |
probably damaging |
Het |
Myo3b |
A |
G |
2: 69,926,706 (GRCm39) |
D51G |
probably damaging |
Het |
Naip2 |
T |
C |
13: 100,297,133 (GRCm39) |
N968D |
probably benign |
Het |
Nbea |
T |
C |
3: 55,917,021 (GRCm39) |
H820R |
probably damaging |
Het |
Nqo1 |
C |
T |
8: 108,118,749 (GRCm39) |
|
probably null |
Het |
Or10ak7 |
A |
T |
4: 118,791,586 (GRCm39) |
I153N |
possibly damaging |
Het |
Or6c68 |
T |
C |
10: 129,157,684 (GRCm39) |
F64S |
possibly damaging |
Het |
Or8b51 |
C |
T |
9: 38,569,365 (GRCm39) |
V108I |
probably benign |
Het |
Ppargc1a |
T |
C |
5: 51,652,044 (GRCm39) |
D218G |
probably damaging |
Het |
Rras |
A |
G |
7: 44,670,003 (GRCm39) |
D145G |
probably damaging |
Het |
Scn3a |
C |
A |
2: 65,297,304 (GRCm39) |
G1452C |
probably damaging |
Het |
Slc22a2 |
C |
A |
17: 12,831,473 (GRCm39) |
S421* |
probably null |
Het |
Slc39a10 |
A |
G |
1: 46,849,226 (GRCm39) |
F797L |
probably benign |
Het |
Spta1 |
T |
A |
1: 174,074,990 (GRCm39) |
Y2405* |
probably null |
Het |
Ss18 |
A |
G |
18: 14,766,662 (GRCm39) |
Y359H |
unknown |
Het |
St14 |
C |
T |
9: 31,008,224 (GRCm39) |
C537Y |
probably damaging |
Het |
Tmem252 |
T |
A |
19: 24,654,910 (GRCm39) |
Y96N |
probably damaging |
Het |
Trafd1 |
T |
C |
5: 121,511,396 (GRCm39) |
D474G |
probably benign |
Het |
Trmt1l |
A |
G |
1: 151,316,559 (GRCm39) |
I20M |
probably damaging |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Vmn1r43 |
A |
G |
6: 89,846,629 (GRCm39) |
S286P |
probably benign |
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 |
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 |
|
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'- TCCCTGAGAGCTTTGGCAAC -3'
(R):5'- AGAGGCCTAGAAGTGGTTTCATG -3'
Sequencing Primer
(F):5'- GGACAATGAACTGCTAGAGCCTCTC -3'
(R):5'- CCTAGAAGTGGTTTCATGCAGATTAG -3'
|
Posted On |
2015-07-07 |