Incidental Mutation 'R6515:Klra17'
| ID |
520595 |
| 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 |
| MMRRC Submission |
044642-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.047)
|
| Stock # |
R6515 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
129808117-129853635 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129808462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 257
(I257N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014687]
[ENSMUST00000122219]
|
| AlphaFold |
Q9JMA4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014687
AA Change: I257N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014687
Gene: ENSMUSG00000014543
AA Change: I257N
| 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 damaging
Transcript: ENSMUST00000122219
AA Change: I257N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114108
Gene: ENSMUSG00000014543
AA Change: I257N
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
100% (41/41) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1s3 |
T |
C |
1: 79,592,044 (GRCm39) |
D102G |
probably damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,084,910 (GRCm39) |
M369K |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,411,903 (GRCm39) |
K46R |
possibly damaging |
Het |
| Bcl9l |
A |
G |
9: 44,419,171 (GRCm39) |
|
probably null |
Het |
| Cabyr |
A |
G |
18: 12,887,340 (GRCm39) |
S324G |
possibly damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,646,423 (GRCm39) |
D1832G |
possibly damaging |
Het |
| Cdk4 |
C |
T |
10: 126,902,052 (GRCm39) |
P256S |
probably null |
Het |
| Cnot6l |
C |
A |
5: 96,309,537 (GRCm39) |
|
probably benign |
Het |
| Cox17 |
C |
A |
16: 38,167,557 (GRCm39) |
A32E |
probably damaging |
Het |
| Cyp27b1 |
G |
T |
10: 126,884,119 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
T |
A |
15: 54,723,489 (GRCm39) |
N628I |
possibly damaging |
Het |
| Ggcx |
T |
C |
6: 72,402,815 (GRCm39) |
C258R |
probably benign |
Het |
| Hbb-bh1 |
T |
C |
7: 103,491,974 (GRCm39) |
D80G |
probably damaging |
Het |
| Hoxb5 |
A |
T |
11: 96,195,908 (GRCm39) |
D252V |
probably damaging |
Het |
| Hspa4l |
A |
G |
3: 40,736,014 (GRCm39) |
D545G |
possibly damaging |
Het |
| Hspa5 |
T |
A |
2: 34,662,416 (GRCm39) |
V28E |
probably benign |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,899 (GRCm39) |
Y186C |
probably damaging |
Het |
| Itpr3 |
C |
T |
17: 27,310,344 (GRCm39) |
A403V |
probably benign |
Het |
| Kif19b |
T |
C |
5: 140,480,779 (GRCm39) |
S970P |
possibly damaging |
Het |
| Megf6 |
C |
T |
4: 154,343,376 (GRCm39) |
H662Y |
possibly damaging |
Het |
| Mfsd6 |
T |
C |
1: 52,700,120 (GRCm39) |
K676R |
probably damaging |
Het |
| Nutm1 |
A |
C |
2: 112,086,665 (GRCm39) |
L22R |
probably benign |
Het |
| Oas1f |
T |
C |
5: 120,986,497 (GRCm39) |
V150A |
probably damaging |
Het |
| Or10ak13 |
T |
C |
4: 118,639,467 (GRCm39) |
Y105C |
probably benign |
Het |
| Or4f62 |
T |
C |
2: 111,986,710 (GRCm39) |
L138P |
probably benign |
Het |
| Pik3ap1 |
A |
G |
19: 41,364,585 (GRCm39) |
Y45H |
probably benign |
Het |
| Pnlip |
T |
C |
19: 58,661,547 (GRCm39) |
S79P |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 44,989,657 (GRCm39) |
D1185G |
possibly damaging |
Het |
| Pphln1-ps1 |
G |
A |
16: 13,494,820 (GRCm39) |
|
probably benign |
Het |
| Rbm34 |
A |
T |
8: 127,688,682 (GRCm39) |
S217T |
possibly damaging |
Het |
| Rbm44 |
T |
C |
1: 91,092,860 (GRCm39) |
I820T |
probably damaging |
Het |
| Rnf151 |
A |
T |
17: 24,935,391 (GRCm39) |
L180Q |
probably benign |
Het |
| Sec24d |
G |
A |
3: 123,136,719 (GRCm39) |
R484Q |
possibly damaging |
Het |
| Spop |
C |
A |
11: 95,376,761 (GRCm39) |
D271E |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,088,280 (GRCm39) |
G1723D |
probably damaging |
Het |
| Tenm3 |
G |
C |
8: 48,870,257 (GRCm39) |
Q179E |
probably benign |
Het |
| Thap12 |
A |
G |
7: 98,356,302 (GRCm39) |
E63G |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,501,085 (GRCm39) |
T441S |
possibly damaging |
Het |
| Tle6 |
G |
A |
10: 81,427,810 (GRCm39) |
H482Y |
probably damaging |
Het |
| Tmem184a |
A |
G |
5: 139,794,193 (GRCm39) |
F177L |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,315,131 (GRCm39) |
S313T |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,100,584 (GRCm39) |
I1068T |
probably benign |
Het |
| Xirp1 |
T |
C |
9: 119,845,983 (GRCm39) |
R967G |
probably benign |
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 |
|
|
R2446:Klra17
|
UTSW |
6 |
129,808,477 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
|
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'- CTCTGCCACATCAGATTCCAGG -3'
(R):5'- TCCGTATACTTTGGCCAATGG -3'
Sequencing Primer
(F):5'- GGAACATTCCTGACCTCTTCCAG -3'
(R):5'- TGGCCAATGGAATTTTTAAAATCATG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation