Incidental Mutation 'R6696:Klra6'
| ID |
528580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klra6
|
| Ensembl Gene |
ENSMUSG00000061769 |
| Gene Name |
killer cell lectin-like receptor, subfamily A, member 6 |
| Synonyms |
Ly49F, Ly49f |
| MMRRC Submission |
044814-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R6696 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
129989996-130003917 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129993696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 192
(F192L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074056]
|
| AlphaFold |
Q60653 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074056
AA Change: F192L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073700
Gene: ENSMUSG00000061769
AA Change: F192L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
73 |
123 |
3e-9 |
BLAST |
|
CLECT
|
143 |
258 |
8.42e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157801
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (48/48) |
| MGI Phenotype |
FUNCTION: This gene belongs to the highly polymorphic family of C-type lectin-like Ly49 genes that are expressed in natural killer (NK) cells. The encoded protein is a homodimeric type II transmembrane receptor located at the cell surface and inhibits NK cell activation upon ligand binding. This gene is located in a cluster of several Klra paralogs on chromosome 6. Different strains of mice show variation in the number of paralogs, including strain specific duplications, deletions and pseudogene sequences. [provided by RefSeq, Apr 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap25 |
G |
T |
6: 87,442,633 (GRCm39) |
H350Q |
probably damaging |
Het |
| Arhgap25 |
C |
A |
6: 87,443,545 (GRCm39) |
V305F |
probably damaging |
Het |
| Atg3 |
A |
T |
16: 44,995,644 (GRCm39) |
I126F |
possibly damaging |
Het |
| Best2 |
A |
T |
8: 85,737,873 (GRCm39) |
L174* |
probably null |
Het |
| Ccdc134 |
T |
A |
15: 82,015,722 (GRCm39) |
D67E |
probably damaging |
Het |
| Coasy |
G |
T |
11: 100,973,927 (GRCm39) |
R31L |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dhrs7l |
C |
T |
12: 72,666,255 (GRCm39) |
A139T |
possibly damaging |
Het |
| Eipr1 |
C |
A |
12: 28,909,357 (GRCm39) |
T208N |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,048,850 (GRCm39) |
T606A |
probably benign |
Het |
| Fan1 |
A |
T |
7: 63,999,826 (GRCm39) |
I853N |
probably damaging |
Het |
| Fbxw18 |
A |
C |
9: 109,517,832 (GRCm39) |
S385A |
probably benign |
Het |
| Galnt11 |
T |
C |
5: 25,460,112 (GRCm39) |
V307A |
probably benign |
Het |
| Gata3 |
A |
T |
2: 9,879,303 (GRCm39) |
Y224* |
probably null |
Het |
| Gm527 |
T |
C |
12: 64,967,866 (GRCm39) |
M96T |
possibly damaging |
Het |
| Hivep2 |
T |
C |
10: 14,009,503 (GRCm39) |
F1720S |
probably benign |
Het |
| Hltf |
T |
G |
3: 20,119,470 (GRCm39) |
|
probably null |
Het |
| Imp4 |
T |
C |
1: 34,483,327 (GRCm39) |
V247A |
probably benign |
Het |
| Iqca1 |
G |
A |
1: 90,057,922 (GRCm39) |
T259I |
probably benign |
Het |
| Lnp1 |
T |
C |
16: 56,748,149 (GRCm39) |
K48E |
possibly damaging |
Het |
| Lrp4 |
A |
G |
2: 91,327,690 (GRCm39) |
D1513G |
probably benign |
Het |
| Lrrc25 |
G |
A |
8: 71,071,015 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
A |
4: 123,403,596 (GRCm39) |
Y590F |
probably damaging |
Het |
| Mms19 |
C |
A |
19: 41,942,452 (GRCm39) |
V359L |
probably benign |
Het |
| Mns1 |
G |
A |
9: 72,360,044 (GRCm39) |
R398Q |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nme3 |
G |
T |
17: 25,116,268 (GRCm39) |
C158F |
possibly damaging |
Het |
| Pam |
T |
A |
1: 97,813,452 (GRCm39) |
H326L |
possibly damaging |
Het |
| Plcxd1 |
A |
G |
5: 110,249,751 (GRCm39) |
N151S |
possibly damaging |
Het |
| Prep |
A |
T |
10: 45,029,174 (GRCm39) |
N525Y |
probably damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,318,928 (GRCm39) |
I654V |
possibly damaging |
Het |
| Sbf2 |
T |
A |
7: 110,159,505 (GRCm39) |
Q35L |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,789,262 (GRCm39) |
F519S |
probably damaging |
Het |
| Slc18a3 |
T |
C |
14: 32,186,270 (GRCm39) |
I38V |
possibly damaging |
Het |
| Slc5a2 |
A |
T |
7: 127,869,215 (GRCm39) |
I332F |
probably damaging |
Het |
| Slc7a7 |
C |
T |
14: 54,615,218 (GRCm39) |
|
probably null |
Het |
| Srbd1 |
C |
T |
17: 86,446,619 (GRCm39) |
V47I |
possibly damaging |
Het |
| Synj1 |
C |
G |
16: 90,757,340 (GRCm39) |
V877L |
probably damaging |
Het |
| Tgfbr3 |
C |
T |
5: 107,284,796 (GRCm39) |
V618I |
probably benign |
Het |
| Tmem191 |
C |
T |
16: 17,100,886 (GRCm39) |
|
probably null |
Het |
| Tmem67 |
C |
A |
4: 12,061,754 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
C |
T |
11: 115,682,814 (GRCm39) |
A617V |
probably damaging |
Het |
| Vmn1r71 |
T |
A |
7: 10,482,401 (GRCm39) |
I96F |
probably damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,614,495 (GRCm39) |
F440I |
probably benign |
Het |
| Wdr7 |
A |
G |
18: 63,872,401 (GRCm39) |
Q445R |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,925,243 (GRCm39) |
L1407P |
probably damaging |
Het |
|
| Other mutations in Klra6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00861:Klra6
|
APN |
6 |
130,000,663 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02037:Klra6
|
APN |
6 |
129,990,439 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02319:Klra6
|
APN |
6 |
130,002,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02427:Klra6
|
APN |
6 |
129,993,680 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02730:Klra6
|
APN |
6 |
129,999,660 (GRCm39) |
missense |
probably benign |
|
|
IGL02822:Klra6
|
APN |
6 |
129,993,673 (GRCm39) |
nonsense |
probably null |
|
|
R0485:Klra6
|
UTSW |
6 |
130,000,601 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0697:Klra6
|
UTSW |
6 |
129,993,687 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0731:Klra6
|
UTSW |
6 |
129,999,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1081:Klra6
|
UTSW |
6 |
129,999,588 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1708:Klra6
|
UTSW |
6 |
129,999,677 (GRCm39) |
nonsense |
probably null |
|
|
R1749:Klra6
|
UTSW |
6 |
129,995,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1842:Klra6
|
UTSW |
6 |
129,999,573 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1944:Klra6
|
UTSW |
6 |
129,995,908 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4214:Klra6
|
UTSW |
6 |
129,995,885 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5210:Klra6
|
UTSW |
6 |
129,995,855 (GRCm39) |
nonsense |
probably null |
|
|
R5286:Klra6
|
UTSW |
6 |
129,995,932 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5418:Klra6
|
UTSW |
6 |
129,990,393 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5764:Klra6
|
UTSW |
6 |
129,999,692 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6193:Klra6
|
UTSW |
6 |
129,995,881 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6536:Klra6
|
UTSW |
6 |
130,000,682 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7021:Klra6
|
UTSW |
6 |
129,995,821 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7718:Klra6
|
UTSW |
6 |
129,990,315 (GRCm39) |
frame shift |
probably null |
|
|
R8500:Klra6
|
UTSW |
6 |
129,999,660 (GRCm39) |
missense |
probably benign |
|
|
R8910:Klra6
|
UTSW |
6 |
129,993,647 (GRCm39) |
missense |
probably benign |
|
|
R8983:Klra6
|
UTSW |
6 |
129,999,573 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9164:Klra6
|
UTSW |
6 |
129,993,687 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9775:Klra6
|
UTSW |
6 |
129,999,639 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGAGCTCCATAGAAAATGAGG -3'
(R):5'- CGTGAACTGAGGACTCTTGAAG -3'
Sequencing Primer
(F):5'- CTCCATAGAAAATGAGGAAAACCATG -3'
(R):5'- ATGTATATGGTGGGACTGAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation