Incidental Mutation 'IGL02810:Klrb1b'
| ID |
360562 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klrb1b
|
| Ensembl Gene |
ENSMUSG00000079298 |
| Gene Name |
killer cell lectin-like receptor subfamily B member 1B |
| Synonyms |
NKR-P1B, Nkrp1d, Ly55b, Klrb1d, Ly55d, Nkrp1-b, NKR-P1D |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
IGL02810
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
128790669-128803278 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 128795430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032472]
[ENSMUST00000172887]
[ENSMUST00000174544]
[ENSMUST00000204394]
[ENSMUST00000204423]
[ENSMUST00000204677]
[ENSMUST00000204756]
[ENSMUST00000205130]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032472
|
| SMART Domains |
Protein: ENSMUSP00000032472
Gene: ENSMUSG00000079298
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
|
CLECT
|
94 |
211 |
2.04e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172887
|
| SMART Domains |
Protein: ENSMUSP00000134637
Gene: ENSMUSG00000079298
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
|
PDB:3M9Z|A
|
89 |
138 |
1e-25 |
PDB |
|
SCOP:d1e87a_
|
94 |
137 |
2e-10 |
SMART |
|
Blast:CLECT
|
94 |
138 |
2e-25 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174544
|
| SMART Domains |
Protein: ENSMUSP00000134022
Gene: ENSMUSG00000079298
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
|
PDB:3M9Z|A
|
56 |
97 |
8e-21 |
PDB |
|
Blast:CLECT
|
61 |
97 |
1e-20 |
BLAST |
|
SCOP:d1e87a_
|
61 |
97 |
8e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204394
|
| SMART Domains |
Protein: ENSMUSP00000145481
Gene: ENSMUSG00000107872
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
|
CLECT
|
94 |
211 |
8.5e-28 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204423
|
| SMART Domains |
Protein: ENSMUSP00000145327
Gene: ENSMUSG00000107872
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
|
CLECT
|
94 |
211 |
8.7e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204677
|
| SMART Domains |
Protein: ENSMUSP00000145287
Gene: ENSMUSG00000107872
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
|
PDB:3M9Z|A
|
89 |
144 |
2e-30 |
PDB |
|
SCOP:d1e87a_
|
94 |
143 |
2e-12 |
SMART |
|
Blast:CLECT
|
94 |
144 |
3e-30 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204756
|
| SMART Domains |
Protein: ENSMUSP00000144777
Gene: ENSMUSG00000107872
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
CLECT
|
85 |
185 |
1e-14 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205130
|
| SMART Domains |
Protein: ENSMUSP00000144964
Gene: ENSMUSG00000079298
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
|
CLECT
|
75 |
187 |
1.5e-18 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal NK cell phsyiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,249,401 (GRCm39) |
K1491E |
probably damaging |
Het |
| Abi3bp |
T |
C |
16: 56,498,138 (GRCm39) |
S696P |
probably damaging |
Het |
| Ago1 |
A |
G |
4: 126,336,886 (GRCm39) |
V273A |
probably benign |
Het |
| Atosb |
C |
A |
4: 43,034,429 (GRCm39) |
V389F |
probably damaging |
Het |
| Bbs2 |
A |
G |
8: 94,813,539 (GRCm39) |
Y213H |
probably benign |
Het |
| Car10 |
T |
A |
11: 93,469,522 (GRCm39) |
Y142N |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,799,016 (GRCm39) |
K415E |
possibly damaging |
Het |
| Exoc3l |
A |
T |
8: 106,021,980 (GRCm39) |
I41N |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,288,146 (GRCm39) |
D459G |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,373,654 (GRCm39) |
F401L |
probably damaging |
Het |
| Galnt10 |
G |
A |
11: 57,616,412 (GRCm39) |
R109Q |
probably damaging |
Het |
| Gpr108 |
C |
T |
17: 57,549,742 (GRCm39) |
D265N |
probably benign |
Het |
| Helb |
T |
C |
10: 119,927,608 (GRCm39) |
N834S |
possibly damaging |
Het |
| Igkv8-30 |
A |
G |
6: 70,094,342 (GRCm39) |
V23A |
probably benign |
Het |
| Iqck |
A |
T |
7: 118,570,662 (GRCm39) |
K271N |
possibly damaging |
Het |
| Klhl17 |
T |
C |
4: 156,318,514 (GRCm39) |
E36G |
possibly damaging |
Het |
| Mybl1 |
G |
A |
1: 9,743,340 (GRCm39) |
P571S |
probably damaging |
Het |
| Mybl1 |
T |
C |
1: 9,748,613 (GRCm39) |
T328A |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,652,135 (GRCm39) |
D873E |
probably damaging |
Het |
| Nms |
T |
C |
1: 38,987,725 (GRCm39) |
Y147H |
possibly damaging |
Het |
| Nrde2 |
A |
T |
12: 100,110,017 (GRCm39) |
M338K |
possibly damaging |
Het |
| Oasl2 |
T |
A |
5: 115,035,852 (GRCm39) |
F43I |
probably damaging |
Het |
| Oxr1 |
G |
A |
15: 41,676,979 (GRCm39) |
V91I |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,613,942 (GRCm39) |
C503Y |
probably benign |
Het |
| Polr2m |
A |
T |
9: 71,390,848 (GRCm39) |
I14K |
probably benign |
Het |
| Ppara |
T |
C |
15: 85,661,878 (GRCm39) |
S40P |
probably damaging |
Het |
| Shisa6 |
T |
A |
11: 66,115,774 (GRCm39) |
T288S |
possibly damaging |
Het |
| Slc26a5 |
T |
C |
5: 22,018,381 (GRCm39) |
|
probably benign |
Het |
| Spag1 |
A |
G |
15: 36,234,693 (GRCm39) |
N818D |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,120,835 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
C |
T |
5: 122,380,664 (GRCm39) |
|
probably null |
Het |
| Triobp |
A |
G |
15: 78,886,403 (GRCm39) |
N507S |
possibly damaging |
Het |
| Tut7 |
A |
G |
13: 59,929,830 (GRCm39) |
|
probably null |
Het |
| Ugt2b34 |
C |
A |
5: 87,054,383 (GRCm39) |
V133L |
probably benign |
Het |
| Yju2b |
A |
G |
8: 84,990,997 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Klrb1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02545:Klrb1b
|
APN |
6 |
128,797,272 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02815:Klrb1b
|
APN |
6 |
128,797,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03162:Klrb1b
|
APN |
6 |
128,795,892 (GRCm39) |
missense |
probably null |
0.99 |
|
IGL03276:Klrb1b
|
APN |
6 |
128,792,168 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8957:Klrb1b
|
UTSW |
6 |
128,795,522 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9235:Klrb1b
|
UTSW |
6 |
128,795,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9244:Klrb1b
|
UTSW |
6 |
128,792,245 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation