Incidental Mutation 'R9555:Klrb1a'
| ID |
720707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klrb1a
|
| Ensembl Gene |
ENSMUSG00000030361 |
| Gene Name |
killer cell lectin-like receptor subfamily B member 1A |
| Synonyms |
Ly55a, Nkrp1-a, NKR-P1A |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9555 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
128586190-128599897 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128595427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 142
(E142G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032512]
[ENSMUST00000171306]
[ENSMUST00000203150]
[ENSMUST00000203275]
[ENSMUST00000204819]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032512
AA Change: E142G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032512
Gene: ENSMUSG00000030361
AA Change: E142G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
CLECT
|
100 |
217 |
1.52e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171306
AA Change: E109G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132390
Gene: ENSMUSG00000030361
AA Change: E109G
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
67 |
184 |
1.52e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203150
|
| SMART Domains |
Protein: ENSMUSP00000144707
Gene: ENSMUSG00000030361
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
51 |
73 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203275
AA Change: E130G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145086
Gene: ENSMUSG00000030361
AA Change: E130G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
CLECT
|
88 |
205 |
7.6e-27 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204819
AA Change: E139G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145519
Gene: ENSMUSG00000030361
AA Change: E139G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
CLECT
|
97 |
214 |
7.6e-27 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
A |
G |
16: 64,586,947 (GRCm39) |
V259A |
probably benign |
Het |
| Abcd4 |
T |
C |
12: 84,661,949 (GRCm39) |
I63V |
probably benign |
Het |
| Agps |
C |
A |
2: 75,683,091 (GRCm39) |
P139T |
probably damaging |
Het |
| B130006D01Rik |
A |
T |
11: 95,616,956 (GRCm39) |
H27L |
unknown |
Het |
| BC024139 |
A |
G |
15: 76,005,359 (GRCm39) |
V501A |
possibly damaging |
Het |
| Cacul1 |
A |
T |
19: 60,533,887 (GRCm39) |
Y238* |
probably null |
Het |
| Cep55 |
T |
C |
19: 38,059,592 (GRCm39) |
|
probably null |
Het |
| Csf1r |
T |
A |
18: 61,243,473 (GRCm39) |
I163N |
possibly damaging |
Het |
| Ddx3y |
G |
T |
Y: 1,265,895 (GRCm39) |
D367E |
probably benign |
Het |
| Ecpas |
T |
A |
4: 58,879,083 (GRCm39) |
I69L |
possibly damaging |
Het |
| Epb41l4a |
A |
G |
18: 34,009,966 (GRCm39) |
V213A |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Lamb3 |
A |
T |
1: 193,011,113 (GRCm39) |
I369F |
possibly damaging |
Het |
| Lig1 |
T |
C |
7: 13,025,400 (GRCm39) |
V254A |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,741,693 (GRCm39) |
D3192V |
|
Het |
| Lrp1b |
T |
C |
2: 40,748,438 (GRCm39) |
D3134G |
|
Het |
| Map1s |
T |
A |
8: 71,367,236 (GRCm39) |
S714T |
probably benign |
Het |
| Marchf2 |
A |
G |
17: 33,922,129 (GRCm39) |
L77P |
probably damaging |
Het |
| Nek8 |
A |
G |
11: 78,067,390 (GRCm39) |
F15L |
probably benign |
Het |
| Or1s2 |
T |
A |
19: 13,758,360 (GRCm39) |
I126N |
probably damaging |
Het |
| Pdzrn4 |
C |
T |
15: 92,297,703 (GRCm39) |
R223C |
probably damaging |
Het |
| Per1 |
T |
A |
11: 68,995,574 (GRCm39) |
V718D |
probably benign |
Het |
| Pik3ca |
A |
G |
3: 32,505,916 (GRCm39) |
H676R |
probably damaging |
Het |
| Pla2g4e |
C |
A |
2: 120,075,400 (GRCm39) |
|
probably benign |
Het |
| Proser1 |
A |
T |
3: 53,378,876 (GRCm39) |
I103F |
possibly damaging |
Het |
| Pyroxd1 |
G |
A |
6: 142,300,421 (GRCm39) |
A184T |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,718,415 (GRCm39) |
Q632* |
probably null |
Het |
| Serpinb12 |
C |
T |
1: 106,884,345 (GRCm39) |
H364Y |
probably damaging |
Het |
| Sfxn3 |
G |
A |
19: 45,038,211 (GRCm39) |
E64K |
probably benign |
Het |
| Slc38a1 |
C |
T |
15: 96,486,860 (GRCm39) |
V199M |
possibly damaging |
Het |
| Tep1 |
A |
G |
14: 51,105,888 (GRCm39) |
I44T |
possibly damaging |
Het |
| Trip13 |
T |
A |
13: 74,084,252 (GRCm39) |
T78S |
probably benign |
Het |
| Trmt11 |
T |
C |
10: 30,470,150 (GRCm39) |
D58G |
possibly damaging |
Het |
| Usp28 |
A |
T |
9: 48,952,736 (GRCm39) |
I1015F |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,839,659 (GRCm39) |
T1962A |
|
Het |
| Vmn2r100 |
T |
A |
17: 19,743,857 (GRCm39) |
S507T |
probably benign |
Het |
| Vmn2r91 |
C |
T |
17: 18,325,792 (GRCm39) |
P137S |
possibly damaging |
Het |
| Zfp84 |
G |
T |
7: 29,476,102 (GRCm39) |
V265F |
probably damaging |
Het |
|
| Other mutations in Klrb1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Klrb1a
|
APN |
6 |
128,595,008 (GRCm39) |
splice site |
probably benign |
|
|
IGL01678:Klrb1a
|
APN |
6 |
128,595,411 (GRCm39) |
splice site |
probably benign |
|
|
IGL01976:Klrb1a
|
APN |
6 |
128,595,072 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0387:Klrb1a
|
UTSW |
6 |
128,586,697 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1348:Klrb1a
|
UTSW |
6 |
128,586,797 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3709:Klrb1a
|
UTSW |
6 |
128,595,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5253:Klrb1a
|
UTSW |
6 |
128,596,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5541:Klrb1a
|
UTSW |
6 |
128,586,699 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5630:Klrb1a
|
UTSW |
6 |
128,595,573 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5913:Klrb1a
|
UTSW |
6 |
128,595,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6248:Klrb1a
|
UTSW |
6 |
128,596,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7248:Klrb1a
|
UTSW |
6 |
128,586,697 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9648:Klrb1a
|
UTSW |
6 |
128,586,816 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9716:Klrb1a
|
UTSW |
6 |
128,597,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Klrb1a
|
UTSW |
6 |
128,595,548 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGTGAAATCTGTGCCCC -3'
(R):5'- AAGCAACTAATGTGTGTAACCAGC -3'
Sequencing Primer
(F):5'- GTGCCCCATATTTATGATCCAAAGG -3'
(R):5'- GGGTAGAAATACACCATGTCTTCCTC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation