Incidental Mutation 'IGL00225:Klrb1f'
ID |
2369 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klrb1f
|
Ensembl Gene |
ENSMUSG00000030154 |
Gene Name |
killer cell lectin-like receptor subfamily B member 1F |
Synonyms |
A630024B12Rik, Nkrp1f |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
IGL00225
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
129022864-129034427 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 129030138 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145033
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032257]
[ENSMUST00000203059]
[ENSMUST00000204320]
[ENSMUST00000204508]
|
AlphaFold |
Q8VD98 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032257
|
SMART Domains |
Protein: ENSMUSP00000032257 Gene: ENSMUSG00000030154
Domain | Start | End | E-Value | Type |
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
CLECT
|
94 |
211 |
2.86e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203059
|
SMART Domains |
Protein: ENSMUSP00000145316 Gene: ENSMUSG00000030154
Domain | Start | End | E-Value | Type |
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204320
|
SMART Domains |
Protein: ENSMUSP00000144813 Gene: ENSMUSG00000030154
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
64 |
N/A |
INTRINSIC |
PDB:3M9Z|A
|
65 |
111 |
2e-7 |
PDB |
Blast:CLECT
|
69 |
111 |
6e-25 |
BLAST |
SCOP:d1e87a_
|
69 |
111 |
2e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204413
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204508
|
SMART Domains |
Protein: ENSMUSP00000145033 Gene: ENSMUSG00000030154
Domain | Start | End | E-Value | Type |
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204784
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205038
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Flii |
T |
C |
11: 60,614,241 (GRCm39) |
N93D |
probably benign |
Het |
Gm8356 |
T |
C |
14: 17,693,287 (GRCm39) |
K24E |
probably damaging |
Het |
Hars1 |
G |
A |
18: 36,901,225 (GRCm39) |
T409M |
probably damaging |
Het |
Ivns1abp |
A |
G |
1: 151,226,863 (GRCm39) |
|
probably null |
Het |
Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
Kdm4c |
T |
G |
4: 74,263,804 (GRCm39) |
V696G |
probably benign |
Het |
Lrp4 |
G |
A |
2: 91,325,371 (GRCm39) |
V1399I |
probably benign |
Het |
LTO1 |
G |
A |
7: 144,471,405 (GRCm39) |
G86D |
possibly damaging |
Het |
Mki67 |
A |
G |
7: 135,291,849 (GRCm39) |
V3168A |
probably benign |
Het |
Nf1 |
T |
A |
11: 79,286,731 (GRCm39) |
I177K |
probably damaging |
Het |
Nnt |
A |
T |
13: 119,506,533 (GRCm39) |
N371K |
probably damaging |
Het |
Or13a27 |
A |
G |
7: 139,925,123 (GRCm39) |
Y260H |
probably damaging |
Het |
Or5p52 |
C |
T |
7: 107,502,311 (GRCm39) |
P129L |
probably damaging |
Het |
Prkdc |
G |
T |
16: 15,627,508 (GRCm39) |
V3389L |
possibly damaging |
Het |
Prr16 |
T |
A |
18: 51,436,192 (GRCm39) |
Y224N |
possibly damaging |
Het |
Ptgs1 |
G |
A |
2: 36,127,231 (GRCm39) |
C39Y |
probably damaging |
Het |
Sla |
T |
C |
15: 66,654,479 (GRCm39) |
D269G |
possibly damaging |
Het |
Stk38l |
T |
A |
6: 146,659,971 (GRCm39) |
M1K |
probably null |
Het |
Trim24 |
T |
A |
6: 37,880,583 (GRCm39) |
N160K |
possibly damaging |
Het |
Zfp451 |
A |
G |
1: 33,825,621 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Klrb1f |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00838:Klrb1f
|
APN |
6 |
129,031,279 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03077:Klrb1f
|
APN |
6 |
129,030,765 (GRCm39) |
missense |
probably null |
0.99 |
R0352:Klrb1f
|
UTSW |
6 |
129,030,680 (GRCm39) |
missense |
probably damaging |
0.99 |
R0412:Klrb1f
|
UTSW |
6 |
129,031,294 (GRCm39) |
missense |
probably benign |
0.30 |
R1733:Klrb1f
|
UTSW |
6 |
129,031,322 (GRCm39) |
nonsense |
probably null |
|
R3237:Klrb1f
|
UTSW |
6 |
129,031,306 (GRCm39) |
missense |
possibly damaging |
0.58 |
R4849:Klrb1f
|
UTSW |
6 |
129,033,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R4894:Klrb1f
|
UTSW |
6 |
129,030,151 (GRCm39) |
missense |
probably benign |
0.23 |
R5378:Klrb1f
|
UTSW |
6 |
129,030,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R5610:Klrb1f
|
UTSW |
6 |
129,031,335 (GRCm39) |
critical splice donor site |
probably null |
|
R6916:Klrb1f
|
UTSW |
6 |
129,030,774 (GRCm39) |
missense |
probably benign |
|
R7412:Klrb1f
|
UTSW |
6 |
129,033,308 (GRCm39) |
nonsense |
probably null |
|
Z1177:Klrb1f
|
UTSW |
6 |
129,029,466 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Posted On |
2011-12-09 |