Incidental Mutation 'IGL00650:Klra9'
| ID |
11676 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klra9
|
| Ensembl Gene |
ENSMUSG00000033024 |
| Gene Name |
killer cell lectin-like receptor subfamily A, member 9 |
| Synonyms |
Ly49I, LY49I1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL00650
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
130155638-130170075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130156060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 232
(K232E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071554]
[ENSMUST00000112032]
|
| AlphaFold |
Q2TJJ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071554
AA Change: K232E
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000071485
Gene: ENSMUSG00000033024
AA Change: K232E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
73 |
116 |
4e-9 |
BLAST |
|
CLECT
|
143 |
258 |
1.55e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112032
AA Change: K232E
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000107663
Gene: ENSMUSG00000033024
AA Change: K232E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
73 |
116 |
4e-9 |
BLAST |
|
CLECT
|
143 |
258 |
1.55e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178922
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530401A14Rik |
A |
G |
11: 81,784,694 (GRCm39) |
|
probably benign |
Het |
| 9130230L23Rik |
T |
C |
5: 66,147,187 (GRCm39) |
N76S |
unknown |
Het |
| Chm |
A |
G |
X: 111,953,292 (GRCm39) |
F574S |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,538,128 (GRCm39) |
I3619T |
possibly damaging |
Het |
| Dock11 |
A |
T |
X: 35,270,246 (GRCm39) |
|
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,163,622 (GRCm39) |
M818K |
possibly damaging |
Het |
| Ghrhr |
A |
G |
6: 55,356,110 (GRCm39) |
T68A |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,159,796 (GRCm39) |
|
probably benign |
Het |
| Inpp5f |
T |
A |
7: 128,265,991 (GRCm39) |
W211R |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,675,692 (GRCm39) |
I1151M |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,380,664 (GRCm39) |
N3664S |
probably damaging |
Het |
| Ndst2 |
A |
C |
14: 20,779,736 (GRCm39) |
I168S |
possibly damaging |
Het |
| Nmral1 |
A |
T |
16: 4,534,240 (GRCm39) |
L67Q |
probably benign |
Het |
| Nrk |
G |
T |
X: 137,873,670 (GRCm39) |
V322F |
probably damaging |
Het |
| Qpct |
G |
A |
17: 79,378,318 (GRCm39) |
V163M |
probably damaging |
Het |
| Rsf1 |
T |
C |
7: 97,331,096 (GRCm39) |
|
probably null |
Het |
| Scn1a |
C |
T |
2: 66,111,137 (GRCm39) |
G1484D |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,275,626 (GRCm39) |
D411G |
possibly damaging |
Het |
| Xpo5 |
T |
C |
17: 46,519,172 (GRCm39) |
Y204H |
probably damaging |
Het |
| Zrsr2 |
A |
T |
X: 162,722,313 (GRCm39) |
M313K |
probably benign |
Het |
|
| Other mutations in Klra9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00685:Klra9
|
APN |
6 |
130,159,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01083:Klra9
|
APN |
6 |
130,166,729 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01704:Klra9
|
APN |
6 |
130,166,744 (GRCm39) |
nonsense |
probably null |
|
|
IGL02510:Klra9
|
APN |
6 |
130,168,185 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02728:Klra9
|
APN |
6 |
130,168,149 (GRCm39) |
splice site |
probably null |
|
|
IGL02792:Klra9
|
APN |
6 |
130,165,643 (GRCm39) |
missense |
probably benign |
0.19 |
|
Ashen
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
FR4589:Klra9
|
UTSW |
6 |
130,159,366 (GRCm39) |
missense |
probably benign |
0.37 |
|
PIT4453001:Klra9
|
UTSW |
6 |
130,168,284 (GRCm39) |
start gained |
probably benign |
|
|
R0410:Klra9
|
UTSW |
6 |
130,165,707 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0926:Klra9
|
UTSW |
6 |
130,155,993 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1712:Klra9
|
UTSW |
6 |
130,166,659 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1897:Klra9
|
UTSW |
6 |
130,162,555 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1972:Klra9
|
UTSW |
6 |
130,159,345 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3683:Klra9
|
UTSW |
6 |
130,168,260 (GRCm39) |
missense |
probably benign |
|
|
R4066:Klra9
|
UTSW |
6 |
130,165,707 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4687:Klra9
|
UTSW |
6 |
130,162,480 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5062:Klra9
|
UTSW |
6 |
130,156,072 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5184:Klra9
|
UTSW |
6 |
130,165,675 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5479:Klra9
|
UTSW |
6 |
130,156,075 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5809:Klra9
|
UTSW |
6 |
130,156,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6410:Klra9
|
UTSW |
6 |
130,155,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6430:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6433:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6434:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6449:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6450:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6464:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6466:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6488:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6882:Klra9
|
UTSW |
6 |
130,155,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6902:Klra9
|
UTSW |
6 |
130,156,003 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6946:Klra9
|
UTSW |
6 |
130,156,003 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7204:Klra9
|
UTSW |
6 |
130,165,643 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7229:Klra9
|
UTSW |
6 |
130,168,224 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7544:Klra9
|
UTSW |
6 |
130,168,183 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7821:Klra9
|
UTSW |
6 |
130,162,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8680:Klra9
|
UTSW |
6 |
130,165,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8912:Klra9
|
UTSW |
6 |
130,159,368 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9788:Klra9
|
UTSW |
6 |
130,159,385 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
| Posted On |
2012-12-06 |
Incidental Mutation