Incidental Mutation 'IGL01976:Klrb1a'
| ID |
182660 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01976
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
128586190-128599897 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 128595072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 132
(T132S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032512]
[ENSMUST00000171306]
[ENSMUST00000203150]
[ENSMUST00000203275]
[ENSMUST00000204819]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032512
AA Change: T165S
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000032512
Gene: ENSMUSG00000030361
AA Change: T165S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
CLECT
|
100 |
217 |
1.52e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171306
AA Change: T132S
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132390
Gene: ENSMUSG00000030361
AA Change: T132S
| 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 benign
Transcript: ENSMUST00000203275
AA Change: T153S
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000145086
Gene: ENSMUSG00000030361
AA Change: T153S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
CLECT
|
88 |
205 |
7.6e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204819
AA Change: T162S
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000145519
Gene: ENSMUSG00000030361
AA Change: T162S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
CLECT
|
97 |
214 |
7.6e-27 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
C |
6: 85,599,647 (GRCm39) |
V1960A |
possibly damaging |
Het |
| Asph |
A |
T |
4: 9,475,471 (GRCm39) |
N537K |
probably damaging |
Het |
| Bnip2 |
T |
C |
9: 69,908,116 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
C |
A |
5: 43,840,457 (GRCm39) |
Q104K |
probably benign |
Het |
| Cd300ld |
A |
G |
11: 114,878,270 (GRCm39) |
S81P |
probably damaging |
Het |
| Clec4a1 |
T |
C |
6: 122,905,033 (GRCm39) |
|
probably benign |
Het |
| Dnajb8 |
T |
C |
6: 88,199,508 (GRCm39) |
S15P |
probably damaging |
Het |
| Erp27 |
C |
A |
6: 136,896,987 (GRCm39) |
V72L |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,799,395 (GRCm39) |
T131A |
probably damaging |
Het |
| Grk1 |
T |
C |
8: 13,465,993 (GRCm39) |
V479A |
probably damaging |
Het |
| H2bc1 |
T |
A |
13: 24,117,982 (GRCm39) |
D53V |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,289,237 (GRCm39) |
D3784G |
probably damaging |
Het |
| Irf2 |
A |
T |
8: 47,260,260 (GRCm39) |
K26M |
probably damaging |
Het |
| Irx6 |
C |
A |
8: 93,402,717 (GRCm39) |
C27* |
probably null |
Het |
| Izumo1r |
C |
T |
9: 14,812,975 (GRCm39) |
C99Y |
probably damaging |
Het |
| Mmp13 |
C |
T |
9: 7,278,974 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,831,348 (GRCm39) |
R766Q |
probably damaging |
Het |
| Myt1 |
T |
C |
2: 181,437,532 (GRCm39) |
L81P |
probably damaging |
Het |
| Nfat5 |
G |
A |
8: 108,094,191 (GRCm39) |
V793I |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,030,596 (GRCm39) |
V108A |
possibly damaging |
Het |
| Omd |
T |
A |
13: 49,743,119 (GRCm39) |
Y56* |
probably null |
Het |
| Or4b1d |
A |
G |
2: 89,969,268 (GRCm39) |
S72P |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,579,363 (GRCm39) |
N316S |
probably benign |
Het |
| Psmd9 |
A |
G |
5: 123,372,697 (GRCm39) |
E60G |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,642,825 (GRCm39) |
E658G |
possibly damaging |
Het |
| Smchd1 |
T |
A |
17: 71,701,720 (GRCm39) |
K1091* |
probably null |
Het |
| Supt16 |
A |
T |
14: 52,419,764 (GRCm39) |
N111K |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,793,799 (GRCm39) |
T3666A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,616,095 (GRCm39) |
D8289G |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,643,438 (GRCm39) |
S4267T |
probably benign |
Het |
| Usp50 |
T |
A |
2: 126,551,386 (GRCm39) |
E31V |
probably benign |
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 |
|
|
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 |
|
R9555:Klrb1a
|
UTSW |
6 |
128,595,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation