Incidental Mutation 'IGL01083:Klra9'
ID |
51269 |
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: 0.059)
|
Stock # |
IGL01083
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
130155638-130170075 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 130166729 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 45
(L45P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107663
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071554]
[ENSMUST00000112032]
|
AlphaFold |
Q2TJJ8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071554
AA Change: L45P
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000071485 Gene: ENSMUSG00000033024 AA Change: L45P
Domain | Start | End | E-Value | Type |
Blast:CLECT
|
73 |
116 |
4e-9 |
BLAST |
CLECT
|
143 |
258 |
1.55e-16 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112032
AA Change: L45P
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000107663 Gene: ENSMUSG00000033024 AA Change: L45P
Domain | Start | End | E-Value | Type |
Blast:CLECT
|
73 |
116 |
4e-9 |
BLAST |
CLECT
|
143 |
258 |
1.55e-16 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
T |
C |
15: 64,659,191 (GRCm39) |
D533G |
probably benign |
Het |
Adgb |
A |
G |
10: 10,283,298 (GRCm39) |
V136A |
possibly damaging |
Het |
Aggf1 |
A |
G |
13: 95,492,917 (GRCm39) |
V564A |
probably damaging |
Het |
Atp1a2 |
T |
C |
1: 172,112,186 (GRCm39) |
T570A |
probably benign |
Het |
Bicdl2 |
A |
G |
17: 23,887,105 (GRCm39) |
Q464R |
probably damaging |
Het |
Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
Chd8 |
C |
A |
14: 52,458,877 (GRCm39) |
R792L |
probably damaging |
Het |
Crybg2 |
A |
T |
4: 133,802,755 (GRCm39) |
I844F |
possibly damaging |
Het |
Dock4 |
G |
A |
12: 40,838,380 (GRCm39) |
|
probably benign |
Het |
Ergic2 |
T |
C |
6: 148,096,769 (GRCm39) |
T166A |
probably benign |
Het |
Flrt2 |
A |
T |
12: 95,747,121 (GRCm39) |
R486S |
probably benign |
Het |
Flt3 |
T |
C |
5: 147,291,680 (GRCm39) |
Y590C |
probably damaging |
Het |
Fubp1 |
A |
G |
3: 151,927,871 (GRCm39) |
E441G |
probably damaging |
Het |
Gfpt1 |
A |
G |
6: 87,031,678 (GRCm39) |
S107G |
probably damaging |
Het |
Mfsd5 |
A |
G |
15: 102,189,525 (GRCm39) |
Y299C |
probably damaging |
Het |
Myo5b |
T |
A |
18: 74,866,974 (GRCm39) |
|
probably benign |
Het |
Obscn |
G |
A |
11: 58,926,919 (GRCm39) |
T5532M |
probably damaging |
Het |
Or5ac25 |
G |
A |
16: 59,182,198 (GRCm39) |
P128S |
probably damaging |
Het |
Palld |
A |
G |
8: 61,991,841 (GRCm39) |
S165P |
probably benign |
Het |
Pramel17 |
T |
A |
4: 101,692,729 (GRCm39) |
M424L |
probably benign |
Het |
Prokr1 |
A |
T |
6: 87,565,766 (GRCm39) |
H26Q |
probably benign |
Het |
Prrc2a |
G |
T |
17: 35,375,177 (GRCm39) |
R1158S |
possibly damaging |
Het |
Rasgrp1 |
A |
G |
2: 117,115,549 (GRCm39) |
W680R |
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,582,191 (GRCm39) |
|
probably benign |
Het |
Sars1 |
A |
G |
3: 108,334,174 (GRCm39) |
L528P |
probably damaging |
Het |
Serpinb3b |
T |
A |
1: 107,085,473 (GRCm39) |
L89F |
possibly damaging |
Het |
Slc38a6 |
T |
C |
12: 73,335,267 (GRCm39) |
V70A |
possibly damaging |
Het |
Son |
G |
A |
16: 91,454,279 (GRCm39) |
E1009K |
probably damaging |
Het |
Thoc3 |
A |
C |
13: 54,615,633 (GRCm39) |
|
probably benign |
Het |
Tlk2 |
T |
A |
11: 105,112,050 (GRCm39) |
C88S |
probably benign |
Het |
Tmem182 |
T |
A |
1: 40,844,977 (GRCm39) |
F21Y |
probably damaging |
Het |
Tmem214 |
G |
A |
5: 31,033,437 (GRCm39) |
V557M |
probably benign |
Het |
Zfp507 |
T |
C |
7: 35,493,463 (GRCm39) |
T527A |
probably benign |
Het |
|
Other mutations in Klra9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00650:Klra9
|
APN |
6 |
130,156,060 (GRCm39) |
missense |
probably benign |
0.04 |
IGL00685:Klra9
|
APN |
6 |
130,159,369 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-06-21 |