Incidental Mutation 'R2446:Klra17'
| ID |
250568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klra17
|
| Ensembl Gene |
ENSMUSG00000014543 |
| Gene Name |
killer cell lectin-like receptor, subfamily A, member 17 |
| Synonyms |
Ly49q1, Ly49Q, Ly-49Q |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.047)
|
| Stock # |
R2446 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
129808117-129853635 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129808477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 252
(H252L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014687]
[ENSMUST00000122219]
|
| AlphaFold |
Q9JMA4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014687
AA Change: H252L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000014687
Gene: ENSMUSG00000014543
AA Change: H252L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
69 |
N/A |
INTRINSIC |
|
Blast:CLECT
|
73 |
126 |
2e-12 |
BLAST |
|
CLECT
|
144 |
259 |
1.5e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122219
AA Change: H252L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000114108
Gene: ENSMUSG00000014543
AA Change: H252L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
70 |
N/A |
INTRINSIC |
|
Blast:CLECT
|
74 |
127 |
2e-12 |
BLAST |
|
CLECT
|
145 |
260 |
1.5e-14 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-in allele exhibit reduced plasmacytoid dendritic cell number and function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,225,101 (GRCm39) |
R527G |
probably benign |
Het |
| Cap1 |
T |
A |
4: 122,758,401 (GRCm39) |
I260F |
probably benign |
Het |
| Chst9 |
T |
C |
18: 15,585,895 (GRCm39) |
K223E |
possibly damaging |
Het |
| Dpy19l4 |
A |
T |
4: 11,304,143 (GRCm39) |
|
probably null |
Het |
| Ercc2 |
T |
C |
7: 19,120,869 (GRCm39) |
I223T |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,314,347 (GRCm39) |
L4277P |
possibly damaging |
Het |
| Ibtk |
T |
C |
9: 85,585,126 (GRCm39) |
N1173D |
probably benign |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Npc1 |
A |
G |
18: 12,347,396 (GRCm39) |
V208A |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or5b107 |
T |
G |
19: 13,142,811 (GRCm39) |
C144W |
probably benign |
Het |
| P2rx7 |
A |
T |
5: 122,818,879 (GRCm39) |
M434L |
probably benign |
Het |
| Pcdhb9 |
G |
A |
18: 37,536,340 (GRCm39) |
G778E |
probably damaging |
Het |
| Prss3b |
A |
G |
6: 41,008,582 (GRCm39) |
I244T |
probably benign |
Het |
| Scn7a |
A |
G |
2: 66,523,002 (GRCm39) |
Y901H |
probably damaging |
Het |
| Tlcd1 |
G |
A |
11: 78,069,623 (GRCm39) |
|
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Vmn2r3 |
A |
G |
3: 64,182,733 (GRCm39) |
I322T |
probably damaging |
Het |
| Zbtb38 |
C |
T |
9: 96,569,699 (GRCm39) |
V462M |
probably damaging |
Het |
|
| Other mutations in Klra17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00727:Klra17
|
APN |
6 |
129,808,472 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02084:Klra17
|
APN |
6 |
129,808,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02995:Klra17
|
APN |
6 |
129,845,647 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03238:Klra17
|
APN |
6 |
129,845,773 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0118:Klra17
|
UTSW |
6 |
129,808,552 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0583:Klra17
|
UTSW |
6 |
129,845,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1103:Klra17
|
UTSW |
6 |
129,845,806 (GRCm39) |
unclassified |
probably benign |
|
|
R1378:Klra17
|
UTSW |
6 |
129,842,647 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1513:Klra17
|
UTSW |
6 |
129,849,277 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1817:Klra17
|
UTSW |
6 |
129,845,681 (GRCm39) |
splice site |
probably null |
|
|
R2262:Klra17
|
UTSW |
6 |
129,851,757 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2484:Klra17
|
UTSW |
6 |
129,845,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3410:Klra17
|
UTSW |
6 |
129,851,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3411:Klra17
|
UTSW |
6 |
129,851,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3739:Klra17
|
UTSW |
6 |
129,850,328 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4747:Klra17
|
UTSW |
6 |
129,849,232 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4956:Klra17
|
UTSW |
6 |
129,850,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5079:Klra17
|
UTSW |
6 |
129,849,159 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5310:Klra17
|
UTSW |
6 |
129,845,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5366:Klra17
|
UTSW |
6 |
129,851,858 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5875:Klra17
|
UTSW |
6 |
129,851,791 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6043:Klra17
|
UTSW |
6 |
129,849,150 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6515:Klra17
|
UTSW |
6 |
129,808,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6675:Klra17
|
UTSW |
6 |
129,849,286 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7201:Klra17
|
UTSW |
6 |
129,850,306 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7296:Klra17
|
UTSW |
6 |
129,808,555 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8141:Klra17
|
UTSW |
6 |
129,849,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8260:Klra17
|
UTSW |
6 |
129,808,421 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8399:Klra17
|
UTSW |
6 |
129,851,900 (GRCm39) |
splice site |
probably benign |
|
|
R8503:Klra17
|
UTSW |
6 |
129,845,777 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8694:Klra17
|
UTSW |
6 |
129,851,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8861:Klra17
|
UTSW |
6 |
129,851,865 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9188:Klra17
|
UTSW |
6 |
129,808,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9211:Klra17
|
UTSW |
6 |
129,842,651 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGCCACATCAGATTCCAG -3'
(R):5'- TCCGTATACTTTGGCCAATGG -3'
Sequencing Primer
(F):5'- GGAACATTCCTGACCTCTTCCAG -3'
(R):5'- TGGCCAATGGAATTTTTAAAATCATG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation