Incidental Mutation 'R6551:Klra10'
| ID |
521614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klra10
|
| Ensembl Gene |
ENSMUSG00000072718 |
| Gene Name |
killer cell lectin-like receptor subfamily A, member 10 |
| Synonyms |
Ly49i2, Ly49J |
| MMRRC Submission |
044676-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R6551 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
130246157-130258891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130252718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 185
(D185E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112020]
|
| AlphaFold |
Q9R1G6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112020
AA Change: D185E
PolyPhen 2
Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107651
Gene: ENSMUSG00000072718
AA Change: D185E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
66 |
N/A |
INTRINSIC |
|
Blast:CLECT
|
73 |
117 |
2e-9 |
BLAST |
|
CLECT
|
143 |
258 |
6.43e-14 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
T |
1: 192,856,831 (GRCm39) |
Q61L |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,393,128 (GRCm39) |
S285P |
probably benign |
Het |
| Ager |
A |
G |
17: 34,818,442 (GRCm39) |
|
probably null |
Het |
| Alkbh7 |
T |
A |
17: 57,305,945 (GRCm39) |
Y115* |
probably null |
Het |
| Brwd1 |
T |
C |
16: 95,795,162 (GRCm39) |
D2184G |
possibly damaging |
Het |
| Chp1 |
T |
A |
2: 119,402,294 (GRCm39) |
H89Q |
possibly damaging |
Het |
| Clmp |
T |
C |
9: 40,682,573 (GRCm39) |
V119A |
probably benign |
Het |
| Cryge |
A |
T |
1: 65,087,796 (GRCm39) |
M171K |
probably benign |
Het |
| Cttnbp2nl |
A |
T |
3: 104,912,433 (GRCm39) |
S484T |
possibly damaging |
Het |
| Dsg3 |
C |
A |
18: 20,672,968 (GRCm39) |
P880T |
unknown |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Espn |
T |
C |
4: 152,213,223 (GRCm39) |
|
|
Het |
| Fbxo31 |
A |
C |
8: 122,291,443 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
A |
G |
6: 135,710,342 (GRCm39) |
V1068A |
probably damaging |
Het |
| Jak1 |
C |
A |
4: 101,051,040 (GRCm39) |
|
probably benign |
Het |
| Lhx1 |
A |
C |
11: 84,412,739 (GRCm39) |
D60E |
probably benign |
Het |
| Lyar |
C |
A |
5: 38,390,616 (GRCm39) |
A326D |
probably damaging |
Het |
| Muc16 |
A |
C |
9: 18,473,858 (GRCm39) |
S1280A |
possibly damaging |
Het |
| Nol9 |
G |
A |
4: 152,136,325 (GRCm39) |
V466I |
possibly damaging |
Het |
| Or10d1 |
C |
A |
9: 39,483,856 (GRCm39) |
R233L |
probably benign |
Het |
| Or12e8 |
T |
C |
2: 87,677,005 (GRCm39) |
V130A |
possibly damaging |
Het |
| Or1e17 |
T |
C |
11: 73,831,129 (GRCm39) |
I19T |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or2w3b |
A |
T |
11: 58,623,583 (GRCm39) |
M136K |
probably damaging |
Het |
| Or2y10 |
G |
T |
11: 49,454,816 (GRCm39) |
V23L |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 116,016,731 (GRCm39) |
I342N |
probably damaging |
Het |
| Pnldc1 |
A |
G |
17: 13,124,456 (GRCm39) |
M133T |
probably damaging |
Het |
| Rab11fip1 |
G |
A |
8: 27,646,512 (GRCm39) |
S188L |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 79,122,342 (GRCm39) |
|
probably null |
Het |
| Rnf103 |
G |
A |
6: 71,487,349 (GRCm39) |
C660Y |
probably damaging |
Het |
| Rph3al |
G |
A |
11: 75,797,372 (GRCm39) |
S108F |
possibly damaging |
Het |
| Srsf7 |
A |
C |
17: 80,511,648 (GRCm39) |
|
probably benign |
Het |
| Ssrp1 |
A |
G |
2: 84,871,450 (GRCm39) |
|
probably null |
Het |
| Tamm41 |
T |
C |
6: 114,989,142 (GRCm39) |
D284G |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmem39b |
A |
G |
4: 129,585,896 (GRCm39) |
V25A |
probably benign |
Het |
| Tmem88b |
G |
T |
4: 155,870,149 (GRCm39) |
|
probably benign |
Het |
| Unk |
T |
C |
11: 115,941,550 (GRCm39) |
W266R |
probably damaging |
Het |
| Usp8 |
T |
A |
2: 126,575,102 (GRCm39) |
|
probably benign |
Het |
| Zbtb48 |
T |
G |
4: 152,106,678 (GRCm39) |
Q142P |
probably benign |
Het |
| Zdhhc18 |
T |
C |
4: 133,340,960 (GRCm39) |
T267A |
probably benign |
Het |
| Zfp335 |
G |
A |
2: 164,751,285 (GRCm39) |
P94S |
probably benign |
Het |
|
| Other mutations in Klra10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01505:Klra10
|
APN |
6 |
130,249,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02060:Klra10
|
APN |
6 |
130,249,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02249:Klra10
|
APN |
6 |
130,256,367 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02681:Klra10
|
APN |
6 |
130,256,382 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02684:Klra10
|
APN |
6 |
130,258,845 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
FR4342:Klra10
|
UTSW |
6 |
130,249,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0324:Klra10
|
UTSW |
6 |
130,249,613 (GRCm39) |
splice site |
probably null |
|
|
R1072:Klra10
|
UTSW |
6 |
130,258,811 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1466:Klra10
|
UTSW |
6 |
130,256,394 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1466:Klra10
|
UTSW |
6 |
130,256,394 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1466:Klra10
|
UTSW |
6 |
130,256,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Klra10
|
UTSW |
6 |
130,256,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2125:Klra10
|
UTSW |
6 |
130,256,241 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2266:Klra10
|
UTSW |
6 |
130,246,264 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2427:Klra10
|
UTSW |
6 |
130,256,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4260:Klra10
|
UTSW |
6 |
130,249,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4495:Klra10
|
UTSW |
6 |
130,256,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5897:Klra10
|
UTSW |
6 |
130,258,792 (GRCm39) |
nonsense |
probably null |
|
|
R6123:Klra10
|
UTSW |
6 |
130,256,339 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6221:Klra10
|
UTSW |
6 |
130,246,235 (GRCm39) |
missense |
probably benign |
|
|
R6478:Klra10
|
UTSW |
6 |
130,249,507 (GRCm39) |
splice site |
probably null |
|
|
R6520:Klra10
|
UTSW |
6 |
130,252,755 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7445:Klra10
|
UTSW |
6 |
130,252,819 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7453:Klra10
|
UTSW |
6 |
130,257,327 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7744:Klra10
|
UTSW |
6 |
130,249,724 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8079:Klra10
|
UTSW |
6 |
130,252,738 (GRCm39) |
missense |
probably benign |
|
|
R8320:Klra10
|
UTSW |
6 |
130,246,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8963:Klra10
|
UTSW |
6 |
130,249,617 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9419:Klra10
|
UTSW |
6 |
130,256,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9725:Klra10
|
UTSW |
6 |
130,252,849 (GRCm39) |
missense |
probably benign |
|
|
RF060:Klra10
|
UTSW |
6 |
130,252,784 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGGATTCTCTTGTACACTCCTGAG -3'
(R):5'- GGGAGTTTGGGCATTATAGAATTTCAC -3'
Sequencing Primer
(F):5'- GAGGAGACTGAAAGATACAAATGTC -3'
(R):5'- TGGGCATTATAGAATTTCACTTTCTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation