Incidental Mutation 'R1378:Klra17'
| ID |
162945 |
| 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 |
039442-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R1378 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
129808117-129853635 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129842647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 217
(E217V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014687]
[ENSMUST00000122219]
[ENSMUST00000171980]
|
| AlphaFold |
Q9JMA4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014687
AA Change: E217V
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000014687
Gene: ENSMUSG00000014543
AA Change: E217V
| 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: E217V
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114108
Gene: ENSMUSG00000014543
AA Change: E217V
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
100% (57/57) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
G |
5: 36,126,030 (GRCm39) |
T342A |
probably damaging |
Het |
| Alg1 |
A |
G |
16: 5,061,580 (GRCm39) |
N406D |
probably damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,239,246 (GRCm39) |
M825K |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,967,450 (GRCm39) |
I4117K |
probably damaging |
Het |
| Brinp2 |
A |
T |
1: 158,074,624 (GRCm39) |
L499Q |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,842,570 (GRCm39) |
V789D |
probably benign |
Het |
| Ccdc153 |
C |
G |
9: 44,154,958 (GRCm39) |
L94V |
probably null |
Het |
| Ccna1 |
A |
G |
3: 54,957,150 (GRCm39) |
V237A |
probably damaging |
Het |
| Cct7 |
T |
A |
6: 85,444,545 (GRCm39) |
|
probably null |
Het |
| Cenpb |
C |
T |
2: 131,020,230 (GRCm39) |
|
probably benign |
Het |
| Chrne |
T |
A |
11: 70,505,956 (GRCm39) |
|
probably null |
Het |
| Clstn3 |
T |
A |
6: 124,415,378 (GRCm39) |
D662V |
probably damaging |
Het |
| Clu |
G |
T |
14: 66,212,350 (GRCm39) |
C189F |
probably damaging |
Het |
| Cstdc5 |
A |
G |
16: 36,179,929 (GRCm39) |
C63R |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,973,052 (GRCm39) |
R1388C |
probably damaging |
Het |
| Dgka |
T |
C |
10: 128,571,696 (GRCm39) |
|
probably null |
Het |
| Dop1b |
A |
G |
16: 93,567,280 (GRCm39) |
T1236A |
probably benign |
Het |
| Edn2 |
A |
G |
4: 120,019,095 (GRCm39) |
E28G |
probably benign |
Het |
| Elp3 |
T |
C |
14: 65,830,380 (GRCm39) |
I24V |
probably benign |
Het |
| Faap24 |
T |
C |
7: 35,092,326 (GRCm39) |
E197G |
probably benign |
Het |
| Fam13a |
T |
A |
6: 58,933,736 (GRCm39) |
M285L |
probably benign |
Het |
| Gm9944 |
T |
A |
4: 144,179,773 (GRCm39) |
|
probably benign |
Het |
| Gsdmc3 |
T |
C |
15: 63,731,435 (GRCm39) |
|
probably benign |
Het |
| Gvin3 |
T |
A |
7: 106,201,373 (GRCm39) |
I624F |
probably damaging |
Het |
| Ift22 |
A |
C |
5: 136,941,757 (GRCm39) |
K133T |
probably benign |
Het |
| Il23r |
T |
A |
6: 67,429,394 (GRCm39) |
K316I |
possibly damaging |
Het |
| Nell2 |
A |
T |
15: 95,130,402 (GRCm39) |
V657E |
probably damaging |
Het |
| Nlrp4d |
C |
A |
7: 10,098,111 (GRCm39) |
K850N |
probably benign |
Het |
| Nsmce4a |
C |
T |
7: 130,139,900 (GRCm39) |
R276Q |
probably benign |
Het |
| Or10d4 |
T |
C |
9: 39,580,962 (GRCm39) |
L203P |
probably damaging |
Het |
| Or4p8 |
T |
A |
2: 88,727,370 (GRCm39) |
R190S |
probably benign |
Het |
| Or52s1b |
T |
C |
7: 102,822,475 (GRCm39) |
D123G |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,145 (GRCm39) |
R95* |
probably null |
Het |
| Pclo |
T |
C |
5: 14,732,327 (GRCm39) |
S3610P |
probably benign |
Het |
| Pon3 |
T |
G |
6: 5,230,813 (GRCm39) |
D238A |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,547,751 (GRCm39) |
|
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,658,297 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,711 (GRCm39) |
Y1652C |
probably damaging |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Sel1l |
T |
C |
12: 91,799,871 (GRCm39) |
|
probably null |
Het |
| Soat1 |
A |
G |
1: 156,294,352 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
A |
T |
8: 34,065,244 (GRCm39) |
N1558I |
probably damaging |
Het |
| Tmem132d |
A |
T |
5: 128,346,011 (GRCm39) |
F170L |
probably benign |
Het |
| Tro |
G |
T |
X: 149,438,567 (GRCm39) |
P30Q |
probably damaging |
Het |
| Tubg2 |
G |
T |
11: 101,047,699 (GRCm39) |
E95* |
probably null |
Het |
| Unc45b |
G |
A |
11: 82,827,678 (GRCm39) |
S725N |
probably benign |
Het |
| Vmn2r7 |
A |
G |
3: 64,599,025 (GRCm39) |
S511P |
possibly damaging |
Het |
| Vps35l |
G |
T |
7: 118,393,795 (GRCm39) |
E515* |
probably null |
Het |
| Vps35l |
A |
T |
7: 118,393,796 (GRCm39) |
E515V |
probably damaging |
Het |
| Zfp174 |
G |
A |
16: 3,667,353 (GRCm39) |
E181K |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCAAAGAAGCTGCCTTATGCAC -3'
(R):5'- CATCCCAATATTCTCAGGACACTTGGAG -3'
Sequencing Primer
(F):5'- GAAGCTGCCTTATGCACTTTCAC -3'
(R):5'- TCATGGTGAGGCTAAGCAGTG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation