Incidental Mutation 'R6789:Klra4'
| ID |
532933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klra4
|
| Ensembl Gene |
ENSMUSG00000079852 |
| Gene Name |
killer cell lectin-like receptor, subfamily A, member 4 |
| Synonyms |
ly49r<129>, Ly49d, Chok |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R6789 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
130020694-130044234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130039182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 70
(Q70R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119096]
|
| AlphaFold |
Q60651 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119096
AA Change: Q70R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114004
Gene: ENSMUSG00000079852
AA Change: Q70R
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
140 |
255 |
1.78e-16 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
A |
1: 58,343,644 (GRCm39) |
D442E |
probably benign |
Het |
| Arl6ip4 |
G |
A |
5: 124,254,665 (GRCm39) |
G53R |
probably damaging |
Het |
| Asns |
T |
C |
6: 7,675,344 (GRCm39) |
T553A |
probably benign |
Het |
| Atp1a1 |
T |
A |
3: 101,493,614 (GRCm39) |
N497Y |
possibly damaging |
Het |
| Birc2 |
T |
C |
9: 7,836,966 (GRCm39) |
|
probably benign |
Het |
| Catsperd |
C |
A |
17: 56,961,426 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
G |
T |
7: 105,406,210 (GRCm39) |
Q2341K |
possibly damaging |
Het |
| Dydc2 |
C |
A |
14: 40,771,296 (GRCm39) |
V128L |
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,923,284 (GRCm39) |
|
probably null |
Het |
| Efna3 |
C |
T |
3: 89,223,769 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
C |
T |
18: 58,143,686 (GRCm39) |
E2790K |
probably benign |
Het |
| Fhip1a |
A |
T |
3: 85,579,865 (GRCm39) |
L780* |
probably null |
Het |
| Gm11569 |
C |
A |
11: 99,689,657 (GRCm39) |
|
probably benign |
Het |
| Gprc6a |
C |
T |
10: 51,507,412 (GRCm39) |
G39D |
probably damaging |
Het |
| Igkv6-17 |
A |
G |
6: 70,348,692 (GRCm39) |
D21G |
probably benign |
Het |
| Krtap31-2 |
C |
T |
11: 99,827,549 (GRCm39) |
S127F |
possibly damaging |
Het |
| Lingo4 |
G |
T |
3: 94,306,662 (GRCm39) |
|
probably benign |
Het |
| Lrp2bp |
A |
G |
8: 46,466,151 (GRCm39) |
K87E |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,266,231 (GRCm39) |
M5333K |
probably damaging |
Het |
| Mmp13 |
A |
T |
9: 7,272,781 (GRCm39) |
Y47F |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,471,282 (GRCm39) |
P7261S |
probably benign |
Het |
| Nostrin |
G |
T |
2: 69,005,856 (GRCm39) |
M212I |
probably benign |
Het |
| Nr1h5 |
G |
A |
3: 102,865,677 (GRCm39) |
T8M |
possibly damaging |
Het |
| Nup153 |
A |
T |
13: 46,870,792 (GRCm39) |
L41H |
probably damaging |
Het |
| Or10b1 |
T |
C |
10: 78,355,802 (GRCm39) |
L120P |
noncoding transcript |
Het |
| Or5b97 |
T |
A |
19: 12,878,653 (GRCm39) |
I164L |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,099,278 (GRCm39) |
D599V |
probably damaging |
Het |
| Pcdh18 |
G |
A |
3: 49,710,364 (GRCm39) |
T317I |
probably benign |
Het |
| Pcsk5 |
T |
A |
19: 17,434,150 (GRCm39) |
N1406I |
possibly damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,961,419 (GRCm39) |
Y1027N |
probably damaging |
Het |
| Prpf6 |
T |
A |
2: 181,257,844 (GRCm39) |
Y105* |
probably null |
Het |
| Rab5a |
C |
T |
17: 53,804,650 (GRCm39) |
P87S |
probably damaging |
Het |
| Rnf8 |
T |
A |
17: 29,854,843 (GRCm39) |
W433R |
probably damaging |
Het |
| Slc18b1 |
T |
A |
10: 23,692,227 (GRCm39) |
V232D |
probably benign |
Het |
| Taf11 |
C |
A |
17: 28,126,492 (GRCm39) |
A52S |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,665,555 (GRCm39) |
F26L |
probably benign |
Het |
| Trav9-2 |
T |
C |
14: 53,828,819 (GRCm39) |
L63P |
possibly damaging |
Het |
| Zfat |
T |
C |
15: 67,956,235 (GRCm39) |
Y1199C |
probably damaging |
Het |
|
| Other mutations in Klra4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01322:Klra4
|
APN |
6 |
130,038,985 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02189:Klra4
|
APN |
6 |
130,021,105 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02510:Klra4
|
APN |
6 |
130,036,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02887:Klra4
|
APN |
6 |
130,021,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1388:Klra4
|
UTSW |
6 |
130,039,198 (GRCm39) |
splice site |
probably benign |
|
|
R1933:Klra4
|
UTSW |
6 |
130,042,207 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3121:Klra4
|
UTSW |
6 |
130,040,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5205:Klra4
|
UTSW |
6 |
130,039,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5223:Klra4
|
UTSW |
6 |
130,039,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5589:Klra4
|
UTSW |
6 |
130,039,117 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5930:Klra4
|
UTSW |
6 |
130,030,016 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5931:Klra4
|
UTSW |
6 |
130,030,016 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5932:Klra4
|
UTSW |
6 |
130,030,016 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6452:Klra4
|
UTSW |
6 |
130,042,329 (GRCm39) |
splice site |
probably null |
|
|
R6752:Klra4
|
UTSW |
6 |
130,038,991 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6841:Klra4
|
UTSW |
6 |
130,042,162 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7255:Klra4
|
UTSW |
6 |
130,036,605 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7901:Klra4
|
UTSW |
6 |
130,040,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8284:Klra4
|
UTSW |
6 |
130,042,243 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8340:Klra4
|
UTSW |
6 |
130,042,257 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8560:Klra4
|
UTSW |
6 |
130,042,235 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8832:Klra4
|
UTSW |
6 |
130,021,019 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9076:Klra4
|
UTSW |
6 |
130,039,107 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9333:Klra4
|
UTSW |
6 |
130,021,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9434:Klra4
|
UTSW |
6 |
130,040,083 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTCCTGGTTTTATCACACAGTATG -3'
(R):5'- GAAGTGAGGTTACTTCCACCG -3'
Sequencing Primer
(F):5'- ATCACACAGTATGTTTTGATCCCTG -3'
(R):5'- GTGAGGTTACTTCCACCGTAATTTTC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation