Incidental Mutation 'R6430:Klra9'
ID |
518477 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klra9
|
Ensembl Gene |
ENSMUSG00000033024 |
Gene Name |
killer cell lectin-like receptor subfamily A, member 9 |
Synonyms |
Ly49I, LY49I1 |
MMRRC Submission |
044568-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R6430 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
130155638-130170075 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 130155995 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 253
(Y253*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107663
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071554]
[ENSMUST00000112032]
|
AlphaFold |
Q2TJJ8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000071554
AA Change: Y253*
|
SMART Domains |
Protein: ENSMUSP00000071485 Gene: ENSMUSG00000033024 AA Change: Y253*
Domain | Start | End | E-Value | Type |
Blast:CLECT
|
73 |
116 |
4e-9 |
BLAST |
CLECT
|
143 |
258 |
1.55e-16 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000112032
AA Change: Y253*
|
SMART Domains |
Protein: ENSMUSP00000107663 Gene: ENSMUSG00000033024 AA Change: Y253*
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI661453 |
C |
A |
17: 47,777,722 (GRCm39) |
|
probably benign |
Het |
Ank1 |
T |
A |
8: 23,622,125 (GRCm39) |
L1513Q |
probably damaging |
Het |
Ap2a1 |
C |
A |
7: 44,553,253 (GRCm39) |
V676L |
probably benign |
Het |
Arid2 |
T |
C |
15: 96,261,575 (GRCm39) |
V477A |
probably benign |
Het |
Auh |
C |
A |
13: 53,083,446 (GRCm39) |
G17C |
probably benign |
Het |
B3gnt7 |
T |
C |
1: 86,233,839 (GRCm39) |
F362L |
possibly damaging |
Het |
Cd207 |
C |
T |
6: 83,652,869 (GRCm39) |
R87H |
probably benign |
Het |
Cdyl |
A |
G |
13: 36,055,589 (GRCm39) |
K503R |
possibly damaging |
Het |
Cep350 |
A |
G |
1: 155,770,419 (GRCm39) |
S1824P |
probably damaging |
Het |
Cmas |
T |
A |
6: 142,713,650 (GRCm39) |
M225K |
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,081,153 (GRCm39) |
S396P |
possibly damaging |
Het |
Epg5 |
T |
C |
18: 78,019,100 (GRCm39) |
S958P |
probably damaging |
Het |
Espnl |
T |
C |
1: 91,249,970 (GRCm39) |
L39P |
possibly damaging |
Het |
Fcsk |
A |
G |
8: 111,610,748 (GRCm39) |
V915A |
probably benign |
Het |
Flacc1 |
T |
A |
1: 58,717,448 (GRCm39) |
K154N |
probably damaging |
Het |
Gatb |
A |
G |
3: 85,544,345 (GRCm39) |
N438D |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,266,707 (GRCm39) |
C1932R |
probably damaging |
Het |
Jmjd1c |
C |
T |
10: 67,059,939 (GRCm39) |
T662I |
possibly damaging |
Het |
Kcng4 |
A |
G |
8: 120,359,789 (GRCm39) |
S196P |
probably damaging |
Het |
Kcnh7 |
T |
G |
2: 62,680,876 (GRCm39) |
H237P |
probably benign |
Het |
Klhl38 |
T |
C |
15: 58,185,707 (GRCm39) |
T341A |
probably benign |
Het |
Man2c1 |
T |
C |
9: 57,038,517 (GRCm39) |
V59A |
possibly damaging |
Het |
Nr2c1 |
A |
T |
10: 94,031,203 (GRCm39) |
H588L |
possibly damaging |
Het |
Or14a259 |
A |
T |
7: 86,013,181 (GRCm39) |
Y121* |
probably null |
Het |
Or2j3 |
T |
C |
17: 38,616,249 (GRCm39) |
I34M |
probably benign |
Het |
Osbpl6 |
A |
G |
2: 76,409,620 (GRCm39) |
E494G |
probably damaging |
Het |
Per1 |
T |
C |
11: 68,995,122 (GRCm39) |
L638S |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,306,261 (GRCm39) |
E603G |
probably benign |
Het |
Prss12 |
A |
T |
3: 123,273,243 (GRCm39) |
S280C |
probably damaging |
Het |
Pudp |
A |
G |
18: 50,701,307 (GRCm39) |
I142T |
probably benign |
Het |
Rabl6 |
A |
T |
2: 25,474,849 (GRCm39) |
N620K |
probably damaging |
Het |
Rttn |
T |
A |
18: 89,039,809 (GRCm39) |
C837S |
probably null |
Het |
Slc16a7 |
A |
G |
10: 125,066,887 (GRCm39) |
S251P |
probably damaging |
Het |
Slc7a10 |
A |
G |
7: 34,897,083 (GRCm39) |
I195V |
probably benign |
Het |
Slc9a4 |
A |
T |
1: 40,640,014 (GRCm39) |
R269* |
probably null |
Het |
Slco6c1 |
T |
A |
1: 97,003,699 (GRCm39) |
Q466L |
probably benign |
Het |
Smc6 |
A |
G |
12: 11,359,235 (GRCm39) |
N953S |
probably benign |
Het |
Tex15 |
T |
C |
8: 34,061,329 (GRCm39) |
V527A |
probably benign |
Het |
Tln2 |
T |
C |
9: 67,179,947 (GRCm39) |
Y808C |
probably damaging |
Het |
Tmem145 |
T |
C |
7: 25,008,463 (GRCm39) |
L289P |
possibly damaging |
Het |
Trim3 |
A |
G |
7: 105,267,212 (GRCm39) |
V389A |
probably benign |
Het |
Vmn1r3 |
G |
A |
4: 3,184,971 (GRCm39) |
T112I |
probably benign |
Het |
Vps11 |
C |
A |
9: 44,272,847 (GRCm39) |
A28S |
probably benign |
Het |
Zbtb41 |
T |
A |
1: 139,374,945 (GRCm39) |
S802T |
probably benign |
Het |
Zmynd10 |
A |
T |
9: 107,425,911 (GRCm39) |
K82* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCCCAATGTTCTTGCAGC -3'
(R):5'- AGAGTTTTGGTGTGATAAGAGACC -3'
Sequencing Primer
(F):5'- AGCTTTGTTTCTCTTCACAGCAGAC -3'
(R):5'- CATGATGAACTTAGGCTAAACTTAGG -3'
|
Posted On |
2018-05-24 |