Incidental Mutation 'R6466:Klra9'
| ID |
516575 |
| 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 |
044599-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R6466 (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: 99.4%
- 10x: 97.3%
- 20x: 91.1%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1190005I06Rik |
A |
T |
8: 121,335,735 (GRCm39) |
D69E |
probably damaging |
Het |
| AAdacl4fm3 |
T |
A |
4: 144,430,437 (GRCm39) |
D184V |
probably damaging |
Het |
| Adgrv1 |
G |
T |
13: 81,723,220 (GRCm39) |
|
probably null |
Het |
| Ahr |
A |
T |
12: 35,554,031 (GRCm39) |
V696E |
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,376,792 (GRCm39) |
T2007A |
probably benign |
Het |
| Arid1b |
T |
C |
17: 5,377,953 (GRCm39) |
F753S |
probably damaging |
Het |
| Bpifb3 |
G |
T |
2: 153,764,108 (GRCm39) |
K105N |
probably damaging |
Het |
| C2cd2 |
A |
G |
16: 97,680,822 (GRCm39) |
C331R |
probably benign |
Het |
| Chrm1 |
T |
A |
19: 8,655,542 (GRCm39) |
Y82* |
probably null |
Het |
| Clcn3 |
A |
C |
8: 61,382,595 (GRCm39) |
V331G |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,413,748 (GRCm39) |
D1022E |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,430,241 (GRCm39) |
T106S |
probably benign |
Het |
| Fam171a2 |
T |
A |
11: 102,330,711 (GRCm39) |
D256V |
probably damaging |
Het |
| Firrm |
G |
T |
1: 163,781,734 (GRCm39) |
R898S |
probably benign |
Het |
| Fmn2 |
T |
A |
1: 174,437,149 (GRCm39) |
|
probably benign |
Het |
| Fut11 |
C |
T |
14: 20,745,377 (GRCm39) |
R103W |
probably damaging |
Het |
| Gas2l2 |
A |
C |
11: 83,320,179 (GRCm39) |
S26A |
probably damaging |
Het |
| Gramd1a |
A |
T |
7: 30,843,221 (GRCm39) |
I29N |
probably benign |
Het |
| Grem2 |
A |
G |
1: 174,664,450 (GRCm39) |
V133A |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,233,600 (GRCm39) |
S1813T |
possibly damaging |
Het |
| Igkv3-2 |
T |
C |
6: 70,676,023 (GRCm39) |
F111L |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,252,878 (GRCm39) |
Q68R |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,354 (GRCm39) |
I146V |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,136,124 (GRCm39) |
L707P |
probably damaging |
Het |
| Kcnk4 |
T |
A |
19: 6,905,665 (GRCm39) |
I101F |
probably damaging |
Het |
| Klhl9 |
A |
G |
4: 88,639,399 (GRCm39) |
Y281H |
probably benign |
Het |
| Lmbr1 |
C |
T |
5: 29,583,166 (GRCm39) |
A9T |
probably benign |
Het |
| Map10 |
G |
T |
8: 126,399,123 (GRCm39) |
E839* |
probably null |
Het |
| Nectin4 |
C |
A |
1: 171,214,321 (GRCm39) |
A492D |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,082,140 (GRCm39) |
|
probably null |
Het |
| Or5p5 |
A |
G |
7: 107,413,901 (GRCm39) |
T37A |
probably benign |
Het |
| Plec |
A |
G |
15: 76,062,084 (GRCm39) |
Y2608H |
probably benign |
Het |
| Pold3 |
A |
G |
7: 99,749,839 (GRCm39) |
S42P |
probably benign |
Het |
| Ppp2r1a |
G |
T |
17: 21,180,893 (GRCm39) |
G432* |
probably null |
Het |
| Qki |
T |
C |
17: 10,434,394 (GRCm39) |
E315G |
probably benign |
Het |
| Rfx2 |
C |
T |
17: 57,091,397 (GRCm39) |
V354I |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,418,109 (GRCm39) |
Y1001C |
probably benign |
Het |
| Sez6l |
A |
G |
5: 112,609,007 (GRCm39) |
|
probably null |
Het |
| Slc39a14 |
A |
G |
14: 70,547,335 (GRCm39) |
I337T |
probably damaging |
Het |
| Slc3a2 |
G |
T |
19: 8,686,683 (GRCm39) |
L76M |
probably damaging |
Het |
| Slco1a5 |
T |
C |
6: 142,183,260 (GRCm39) |
T555A |
probably benign |
Het |
| Sprr2e |
A |
T |
3: 92,260,341 (GRCm39) |
K57N |
unknown |
Het |
| Syne2 |
A |
G |
12: 75,990,675 (GRCm39) |
T1886A |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,689,098 (GRCm39) |
I2147N |
probably damaging |
Het |
| Thbs1 |
G |
T |
2: 117,950,328 (GRCm39) |
G654W |
probably damaging |
Het |
| Tigd5 |
A |
G |
15: 75,782,352 (GRCm39) |
Y238C |
possibly damaging |
Het |
| Tmem221 |
A |
G |
8: 72,010,493 (GRCm39) |
F126S |
probably damaging |
Het |
| Trp63 |
C |
A |
16: 25,582,108 (GRCm39) |
P52Q |
probably damaging |
Het |
| Ugp2 |
A |
T |
11: 21,278,883 (GRCm39) |
S434R |
probably benign |
Het |
| Vmn2r69 |
A |
C |
7: 85,056,378 (GRCm39) |
F587V |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,784,065 (GRCm39) |
N3872I |
possibly damaging |
Het |
| Wdfy2 |
A |
G |
14: 63,186,115 (GRCm39) |
Y250C |
probably damaging |
Het |
| Zbtb16 |
T |
C |
9: 48,576,619 (GRCm39) |
D487G |
possibly 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 |
|
|
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'- CTAGAGTTTTGGTGTGATAAGAGAC -3'
Sequencing Primer
(F):5'- AGCTTTGTTTCTCTTCACAGCAGAC -3'
(R):5'- CATGATGAACTTAGGCTAAACTTAGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation