Incidental Mutation 'IGL00838:Klrb1f'
| ID |
11678 |
| 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 # |
IGL00838
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
129022864-129034427 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 129031279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 159
(V159I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032257]
[ENSMUST00000203059]
[ENSMUST00000204320]
[ENSMUST00000204508]
|
| AlphaFold |
Q8VD98 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032257
AA Change: V159I
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032257
Gene: ENSMUSG00000030154
AA Change: V159I
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano7 |
C |
A |
1: 93,330,479 (GRCm39) |
N834K |
possibly damaging |
Het |
| Armc10 |
T |
A |
5: 21,866,579 (GRCm39) |
V281E |
probably damaging |
Het |
| Baat |
A |
T |
4: 49,490,352 (GRCm39) |
M244K |
probably damaging |
Het |
| Cryz |
T |
A |
3: 154,324,112 (GRCm39) |
C166S |
probably damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,031,648 (GRCm39) |
K1649N |
probably damaging |
Het |
| Dennd5b |
T |
C |
6: 148,906,861 (GRCm39) |
|
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,152,823 (GRCm39) |
R1630* |
probably null |
Het |
| Gstm5 |
A |
G |
3: 107,804,874 (GRCm39) |
N122S |
probably benign |
Het |
| Klra5 |
C |
A |
6: 129,888,322 (GRCm39) |
G35C |
possibly damaging |
Het |
| Mgl2 |
A |
T |
11: 70,025,038 (GRCm39) |
M14L |
probably benign |
Het |
| Mob1a |
C |
T |
6: 83,315,313 (GRCm39) |
R78C |
possibly damaging |
Het |
| Pigo |
C |
T |
4: 43,021,767 (GRCm39) |
A392T |
possibly damaging |
Het |
| Polr3a |
A |
T |
14: 24,525,931 (GRCm39) |
N436K |
probably benign |
Het |
| Prokr1 |
T |
C |
6: 87,565,675 (GRCm39) |
T57A |
possibly damaging |
Het |
| Ror1 |
T |
G |
4: 100,190,940 (GRCm39) |
V99G |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,583,389 (GRCm39) |
I4755N |
probably damaging |
Het |
| Senp5 |
T |
C |
16: 31,807,991 (GRCm39) |
D394G |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,282,910 (GRCm39) |
L744P |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,387,034 (GRCm39) |
I1318V |
possibly damaging |
Het |
| Syt6 |
T |
A |
3: 103,532,942 (GRCm39) |
M357K |
probably damaging |
Het |
| Tex11 |
A |
T |
X: 100,015,724 (GRCm39) |
I328N |
possibly damaging |
Het |
| Vnn1 |
T |
C |
10: 23,776,677 (GRCm39) |
F343L |
possibly damaging |
Het |
| Wdr72 |
A |
T |
9: 74,062,411 (GRCm39) |
E519V |
probably damaging |
Het |
|
| Other mutations in Klrb1f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00225:Klrb1f
|
APN |
6 |
129,030,138 (GRCm39) |
intron |
probably benign |
|
|
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 |
2012-12-06 |
Incidental Mutation