Incidental Mutation 'R6675:Klra17'
ID |
527244 |
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: 0.059)
|
Stock # |
R6675 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
129808117-129853635 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 129849286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 96
(N96I)
|
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: N96I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000014687 Gene: ENSMUSG00000014543 AA Change: N96I
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: N96I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114108 Gene: ENSMUSG00000014543 AA Change: N96I
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: 98.2%
- 20x: 95.3%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,006,302 (GRCm39) |
T1268A |
probably benign |
Het |
Adamts20 |
A |
G |
15: 94,229,197 (GRCm39) |
|
probably null |
Het |
Arhgap45 |
G |
T |
10: 79,853,938 (GRCm39) |
D151Y |
probably null |
Het |
Arhgef40 |
C |
A |
14: 52,229,098 (GRCm39) |
L592I |
probably damaging |
Het |
Ascc3 |
G |
T |
10: 50,626,659 (GRCm39) |
E1720* |
probably null |
Het |
Atp2c1 |
C |
T |
9: 105,330,732 (GRCm39) |
|
probably null |
Het |
Avpi1 |
G |
A |
19: 42,112,183 (GRCm39) |
P125L |
probably benign |
Het |
Cers3 |
A |
T |
7: 66,435,844 (GRCm39) |
T232S |
possibly damaging |
Het |
Cfap53 |
T |
C |
18: 74,440,447 (GRCm39) |
|
probably null |
Het |
Col4a3 |
T |
C |
1: 82,646,646 (GRCm39) |
S386P |
unknown |
Het |
Dhtkd1 |
A |
T |
2: 5,908,889 (GRCm39) |
M735K |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Gad2 |
T |
C |
2: 22,563,997 (GRCm39) |
V400A |
possibly damaging |
Het |
Gm10801 |
TC |
TCGCC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Hmgxb3 |
T |
G |
18: 61,270,648 (GRCm39) |
D892A |
possibly damaging |
Het |
Hsd3b2 |
G |
A |
3: 98,620,788 (GRCm39) |
T89I |
probably benign |
Het |
Iars1 |
C |
A |
13: 49,873,054 (GRCm39) |
A713D |
probably damaging |
Het |
Itih1 |
G |
A |
14: 30,651,798 (GRCm39) |
T848I |
possibly damaging |
Het |
Kcne2 |
A |
G |
16: 92,093,512 (GRCm39) |
D13G |
probably benign |
Het |
Lrig2 |
T |
C |
3: 104,365,251 (GRCm39) |
N634D |
probably benign |
Het |
Mrc2 |
T |
A |
11: 105,233,906 (GRCm39) |
|
probably null |
Het |
Mroh3 |
A |
T |
1: 136,118,550 (GRCm39) |
S558T |
possibly damaging |
Het |
Ncapg2 |
G |
T |
12: 116,398,281 (GRCm39) |
K627N |
possibly damaging |
Het |
Ncstn |
A |
T |
1: 171,899,095 (GRCm39) |
D345E |
probably damaging |
Het |
Nkx1-1 |
G |
T |
5: 33,591,223 (GRCm39) |
A33E |
unknown |
Het |
Or2n1 |
T |
A |
17: 38,486,905 (GRCm39) |
M310K |
probably benign |
Het |
Or51f2 |
A |
G |
7: 102,526,480 (GRCm39) |
E51G |
possibly damaging |
Het |
Osbpl9 |
G |
T |
4: 108,991,025 (GRCm39) |
|
probably null |
Het |
P2rx6 |
T |
C |
16: 17,380,032 (GRCm39) |
V52A |
probably benign |
Het |
Pcdhgb5 |
C |
T |
18: 37,864,255 (GRCm39) |
L17F |
probably damaging |
Het |
Pdk2 |
T |
C |
11: 94,919,568 (GRCm39) |
I273V |
probably benign |
Het |
Pdpr |
C |
T |
8: 111,828,532 (GRCm39) |
Q12* |
probably null |
Het |
Plxdc2 |
A |
G |
2: 16,716,932 (GRCm39) |
T339A |
probably benign |
Het |
Pramel27 |
G |
A |
4: 143,579,828 (GRCm39) |
C471Y |
probably damaging |
Het |
Retsat |
T |
C |
6: 72,578,672 (GRCm39) |
V128A |
probably benign |
Het |
Rnf17 |
A |
G |
14: 56,697,432 (GRCm39) |
E442G |
probably damaging |
Het |
Sec31b |
T |
C |
19: 44,512,214 (GRCm39) |
N560S |
probably benign |
Het |
Slc22a16 |
C |
T |
10: 40,449,836 (GRCm39) |
Q91* |
probably null |
Het |
Slc24a5 |
G |
T |
2: 124,922,615 (GRCm39) |
A126S |
possibly damaging |
Het |
Slc26a4 |
A |
T |
12: 31,590,512 (GRCm39) |
D380E |
possibly damaging |
Het |
Stc2 |
T |
A |
11: 31,310,307 (GRCm39) |
D243V |
probably benign |
Het |
Tshz2 |
G |
T |
2: 169,727,965 (GRCm39) |
A385S |
probably damaging |
Het |
Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
Vmn1r77 |
A |
G |
7: 11,775,382 (GRCm39) |
T53A |
probably damaging |
Het |
Zeb2 |
A |
T |
2: 44,887,457 (GRCm39) |
Y518* |
probably null |
Het |
Zfp760 |
T |
A |
17: 21,941,991 (GRCm39) |
S389T |
possibly 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 |
|
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 |
|
R6515:Klra17
|
UTSW |
6 |
129,808,462 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GTTGGACTTCAAAGCTTCTGG -3'
(R):5'- ACTTCCAGGCTGTGCTAAAAC -3'
Sequencing Primer
(F):5'- GACTTCAAAGCTTCTGGAGAATAAAG -3'
(R):5'- ACTTCCAACATAATTTTGTTCAGTTG -3'
|
Posted On |
2018-07-23 |