Incidental Mutation 'IGL03238:Klra17'
| ID |
414160 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03238
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
129808117-129853635 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129845773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 147
(H147R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014687]
[ENSMUST00000122219]
[ENSMUST00000171980]
|
| AlphaFold |
Q9JMA4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014687
AA Change: H147R
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000014687
Gene: ENSMUSG00000014543
AA Change: H147R
| 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: H147R
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114108
Gene: ENSMUSG00000014543
AA Change: H147R
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171980
|
| Coding Region Coverage |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
C |
3: 59,932,339 (GRCm39) |
T285P |
probably benign |
Het |
| Abcf1 |
T |
C |
17: 36,274,215 (GRCm39) |
K186E |
probably damaging |
Het |
| Adam3 |
T |
C |
8: 25,177,981 (GRCm39) |
|
probably null |
Het |
| Art1 |
T |
C |
7: 101,759,956 (GRCm39) |
V85A |
possibly damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,394,859 (GRCm39) |
H250R |
probably benign |
Het |
| Cyp3a13 |
T |
A |
5: 137,897,151 (GRCm39) |
I388F |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,073,633 (GRCm39) |
V1425M |
probably damaging |
Het |
| Donson |
G |
A |
16: 91,478,134 (GRCm39) |
Q22* |
probably null |
Het |
| Eif2b2 |
A |
G |
12: 85,270,173 (GRCm39) |
T238A |
probably benign |
Het |
| Emc2 |
T |
A |
15: 43,371,249 (GRCm39) |
|
probably null |
Het |
| Fkbp4 |
A |
T |
6: 128,411,720 (GRCm39) |
V123E |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,563,682 (GRCm39) |
M275K |
possibly damaging |
Het |
| Gcat |
T |
A |
15: 78,920,210 (GRCm39) |
|
probably benign |
Het |
| Gemin2 |
G |
A |
12: 59,063,748 (GRCm39) |
|
probably benign |
Het |
| Ilf3 |
T |
A |
9: 21,303,646 (GRCm39) |
V169E |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,830,367 (GRCm39) |
I1880T |
probably benign |
Het |
| Lzts1 |
T |
C |
8: 69,591,446 (GRCm39) |
D234G |
probably damaging |
Het |
| Map3k4 |
G |
A |
17: 12,490,045 (GRCm39) |
P462L |
probably benign |
Het |
| Marchf6 |
C |
A |
15: 31,462,087 (GRCm39) |
|
probably benign |
Het |
| Mcm6 |
A |
T |
1: 128,283,257 (GRCm39) |
F83I |
probably benign |
Het |
| Mtpn |
A |
G |
6: 35,499,708 (GRCm39) |
L32P |
probably damaging |
Het |
| Mybpc3 |
A |
T |
2: 90,962,004 (GRCm39) |
I841F |
probably damaging |
Het |
| Ndst2 |
G |
T |
14: 20,778,572 (GRCm39) |
H399N |
probably damaging |
Het |
| Npat |
G |
T |
9: 53,481,726 (GRCm39) |
V1145F |
probably damaging |
Het |
| Or51b6 |
G |
A |
7: 103,555,717 (GRCm39) |
A21T |
probably benign |
Het |
| P2ry1 |
T |
A |
3: 60,911,916 (GRCm39) |
S352T |
probably damaging |
Het |
| Plaa |
T |
C |
4: 94,472,133 (GRCm39) |
T326A |
probably benign |
Het |
| Ppdpf |
T |
C |
2: 180,829,673 (GRCm39) |
S43P |
probably benign |
Het |
| Prb1b |
T |
A |
6: 132,289,308 (GRCm39) |
Q172L |
unknown |
Het |
| Setd1a |
C |
T |
7: 127,384,718 (GRCm39) |
T523I |
possibly damaging |
Het |
| Sgcz |
C |
T |
8: 38,030,294 (GRCm39) |
|
probably null |
Het |
| Slc12a2 |
T |
C |
18: 58,047,306 (GRCm39) |
Y740H |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,690,985 (GRCm39) |
C745R |
probably damaging |
Het |
| Tmem101 |
A |
T |
11: 102,046,611 (GRCm39) |
L86Q |
probably damaging |
Het |
| Tmtc3 |
A |
C |
10: 100,313,702 (GRCm39) |
F57V |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,594,771 (GRCm39) |
K778R |
possibly damaging |
Het |
| Washc5 |
G |
A |
15: 59,218,691 (GRCm39) |
T692M |
probably damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,309,685 (GRCm39) |
V379D |
probably damaging |
Het |
| Zfp142 |
G |
T |
1: 74,615,437 (GRCm39) |
R459S |
probably benign |
Het |
| Zfp512b |
A |
G |
2: 181,231,553 (GRCm39) |
V199A |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation