Incidental Mutation 'R6946:Klra9'
ID |
540884 |
Institutional Source |
Beutler Lab
|
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 # |
R6946 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
130155638-130170075 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 130156003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 251
(I251F)
|
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: I251F
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000071485 Gene: ENSMUSG00000033024 AA Change: I251F
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: I251F
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000107663 Gene: ENSMUSG00000033024 AA Change: I251F
Domain | Start | End | E-Value | Type |
Blast:CLECT
|
73 |
116 |
4e-9 |
BLAST |
CLECT
|
143 |
258 |
1.55e-16 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
A |
6: 142,624,953 (GRCm39) |
S481C |
probably damaging |
Het |
Atp8a1 |
T |
C |
5: 67,779,968 (GRCm39) |
T1142A |
possibly damaging |
Het |
Atxn1l |
G |
T |
8: 110,458,648 (GRCm39) |
P538H |
probably damaging |
Het |
Carmil1 |
T |
C |
13: 24,299,528 (GRCm39) |
N332S |
possibly damaging |
Het |
Clec4b2 |
C |
T |
6: 123,177,987 (GRCm39) |
Q101* |
probably null |
Het |
Clstn2 |
A |
T |
9: 97,351,875 (GRCm39) |
F517I |
probably damaging |
Het |
Dap3 |
T |
A |
3: 88,845,523 (GRCm39) |
|
probably benign |
Het |
Dgki |
C |
A |
6: 37,276,571 (GRCm39) |
G105* |
probably null |
Het |
Dnm3 |
T |
C |
1: 162,141,224 (GRCm39) |
E345G |
possibly damaging |
Het |
Fam120a |
A |
T |
13: 49,034,496 (GRCm39) |
S1039T |
possibly damaging |
Het |
Gpr132 |
T |
A |
12: 112,815,830 (GRCm39) |
Y332F |
probably benign |
Het |
Ifi44 |
A |
T |
3: 151,451,536 (GRCm39) |
I190N |
possibly damaging |
Het |
Ighv1-42 |
T |
A |
12: 114,901,155 (GRCm39) |
N4Y |
possibly damaging |
Het |
Igll1 |
A |
G |
16: 16,678,920 (GRCm39) |
V130A |
probably damaging |
Het |
Ikzf2 |
T |
A |
1: 69,616,955 (GRCm39) |
K137* |
probably null |
Het |
Lrp1b |
T |
C |
2: 40,587,451 (GRCm39) |
I166V |
probably benign |
Het |
Map3k1 |
C |
T |
13: 111,905,035 (GRCm39) |
W213* |
probably null |
Het |
Map3k12 |
A |
G |
15: 102,413,569 (GRCm39) |
M134T |
possibly damaging |
Het |
Mfsd3 |
T |
A |
15: 76,587,349 (GRCm39) |
M344K |
probably damaging |
Het |
Mier2 |
C |
A |
10: 79,376,673 (GRCm39) |
|
probably benign |
Het |
Nop53 |
C |
T |
7: 15,672,283 (GRCm39) |
R462Q |
probably damaging |
Het |
Oog2 |
A |
T |
4: 143,923,034 (GRCm39) |
D433V |
possibly damaging |
Het |
Or5p76 |
T |
A |
7: 108,122,528 (GRCm39) |
I210F |
probably benign |
Het |
Or7d11 |
A |
T |
9: 19,966,670 (GRCm39) |
L30M |
possibly damaging |
Het |
Or8g30 |
C |
A |
9: 39,230,315 (GRCm39) |
L198F |
probably damaging |
Het |
Or8k38 |
T |
A |
2: 86,487,932 (GRCm39) |
Y290F |
probably damaging |
Het |
Pan2 |
A |
G |
10: 128,151,506 (GRCm39) |
T867A |
probably benign |
Het |
Pcdhb3 |
T |
A |
18: 37,435,672 (GRCm39) |
L546Q |
probably damaging |
Het |
Plcg2 |
A |
T |
8: 118,230,929 (GRCm39) |
M4L |
probably benign |
Het |
Prss21 |
T |
C |
17: 24,087,138 (GRCm39) |
S24P |
possibly damaging |
Het |
Ryr3 |
T |
C |
2: 112,661,545 (GRCm39) |
D1815G |
probably damaging |
Het |
Scd4 |
A |
G |
19: 44,321,953 (GRCm39) |
E8G |
probably null |
Het |
Sec31b |
T |
C |
19: 44,522,755 (GRCm39) |
D79G |
probably damaging |
Het |
Siah1a |
G |
T |
8: 87,451,770 (GRCm39) |
A238E |
probably damaging |
Het |
Spag17 |
G |
A |
3: 99,911,999 (GRCm39) |
E290K |
possibly damaging |
Het |
Srl |
T |
C |
16: 4,300,423 (GRCm39) |
I883V |
probably benign |
Het |
Tas2r117 |
T |
C |
6: 132,780,288 (GRCm39) |
L142S |
probably damaging |
Het |
Trgv1 |
T |
C |
13: 19,524,190 (GRCm39) |
L2P |
probably benign |
Het |
Ttn |
A |
T |
2: 76,580,199 (GRCm39) |
W23565R |
probably damaging |
Het |
Vipr2 |
A |
T |
12: 116,102,819 (GRCm39) |
T310S |
possibly damaging |
Het |
Zfp112 |
A |
T |
7: 23,824,766 (GRCm39) |
N245Y |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTCCCAATGTTCTTGCAGC -3'
(R):5'- AGAGTTTTGGTGTGATAAGAGACC -3'
Sequencing Primer
(F):5'- AGCTTTGTTTCTCTTCACAGCAGAC -3'
(R):5'- CATGATGAACTTAGGCTAAACTTAGG -3'
|
Posted On |
2018-11-28 |