Incidental Mutation 'IGL02995:Klra5'
ID |
407080 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klra5
|
Ensembl Gene |
ENSMUSG00000030173 |
Gene Name |
killer cell lectin-like receptor, subfamily A, member 5 |
Synonyms |
Ly49e |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02995
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
129874715-129890188 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 129883577 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 93
(D93E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014683]
[ENSMUST00000118060]
[ENSMUST00000169901]
|
AlphaFold |
Q60652 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014683
AA Change: D183E
PolyPhen 2
Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000014683 Gene: ENSMUSG00000030173 AA Change: D183E
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
66 |
N/A |
INTRINSIC |
Blast:CLECT
|
73 |
123 |
4e-9 |
BLAST |
CLECT
|
143 |
258 |
3.66e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118060
AA Change: D183E
PolyPhen 2
Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000112795 Gene: ENSMUSG00000030173 AA Change: D183E
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
66 |
N/A |
INTRINSIC |
Blast:CLECT
|
73 |
123 |
4e-9 |
BLAST |
CLECT
|
143 |
258 |
3.66e-18 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167079
|
SMART Domains |
Protein: ENSMUSP00000125971 Gene: ENSMUSG00000030173
Domain | Start | End | E-Value | Type |
CLECT
|
53 |
168 |
3.66e-18 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169901
AA Change: D93E
PolyPhen 2
Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000126290 Gene: ENSMUSG00000030173 AA Change: D93E
Domain | Start | End | E-Value | Type |
CLECT
|
53 |
168 |
3.66e-18 |
SMART |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal NK and T cell morphology and function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
A |
G |
17: 48,470,456 (GRCm39) |
V175A |
probably benign |
Het |
Adam19 |
G |
A |
11: 46,027,176 (GRCm39) |
R603Q |
probably benign |
Het |
Adam25 |
T |
C |
8: 41,206,760 (GRCm39) |
S9P |
probably benign |
Het |
Akr1e1 |
T |
A |
13: 4,647,477 (GRCm39) |
|
probably benign |
Het |
Ano8 |
C |
T |
8: 71,935,761 (GRCm39) |
V286I |
possibly damaging |
Het |
Baz1a |
C |
T |
12: 54,947,232 (GRCm39) |
R1139H |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,452,953 (GRCm39) |
L29H |
probably damaging |
Het |
Btaf1 |
T |
C |
19: 36,958,535 (GRCm39) |
|
probably benign |
Het |
C8b |
T |
A |
4: 104,658,525 (GRCm39) |
|
probably benign |
Het |
Cep295 |
A |
T |
9: 15,244,608 (GRCm39) |
S1283T |
probably damaging |
Het |
Cyp1a2 |
T |
C |
9: 57,584,511 (GRCm39) |
*514W |
probably null |
Het |
D2hgdh |
G |
T |
1: 93,757,558 (GRCm39) |
D158Y |
probably damaging |
Het |
Dennd1b |
G |
A |
1: 139,008,980 (GRCm39) |
V228M |
probably damaging |
Het |
Fgd6 |
T |
A |
10: 93,881,342 (GRCm39) |
L732* |
probably null |
Het |
Gm21969 |
G |
A |
4: 139,335,009 (GRCm39) |
G348S |
probably benign |
Het |
Gprc6a |
C |
T |
10: 51,502,895 (GRCm39) |
V323M |
probably damaging |
Het |
Gzme |
T |
A |
14: 56,356,166 (GRCm39) |
M111L |
probably damaging |
Het |
Iars2 |
G |
T |
1: 185,035,498 (GRCm39) |
Q581K |
probably benign |
Het |
Klra17 |
A |
T |
6: 129,845,647 (GRCm39) |
|
probably null |
Het |
Lats2 |
T |
C |
14: 57,937,805 (GRCm39) |
Y228C |
probably damaging |
Het |
Lrrn3 |
T |
C |
12: 41,502,216 (GRCm39) |
I700M |
probably damaging |
Het |
Ltb |
A |
T |
17: 35,414,348 (GRCm39) |
|
probably benign |
Het |
Myo18b |
T |
C |
5: 112,923,279 (GRCm39) |
|
probably benign |
Het |
Or10a3 |
T |
A |
7: 108,480,198 (GRCm39) |
E205V |
probably damaging |
Het |
Or11l3 |
A |
G |
11: 58,516,107 (GRCm39) |
M255T |
possibly damaging |
Het |
Or12d13 |
A |
T |
17: 37,647,600 (GRCm39) |
H174Q |
probably damaging |
Het |
Or1e35 |
G |
A |
11: 73,798,045 (GRCm39) |
T91M |
possibly damaging |
Het |
Or1j17 |
C |
T |
2: 36,578,644 (GRCm39) |
P210L |
possibly damaging |
Het |
Pgap1 |
A |
C |
1: 54,532,509 (GRCm39) |
I670S |
probably benign |
Het |
Plxna4 |
A |
T |
6: 32,493,530 (GRCm39) |
I362N |
probably damaging |
Het |
Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
Prr27 |
T |
C |
5: 87,990,675 (GRCm39) |
S96P |
probably benign |
Het |
Psip1 |
T |
A |
4: 83,381,954 (GRCm39) |
|
probably benign |
Het |
Rgs3 |
T |
A |
4: 62,544,084 (GRCm39) |
H285Q |
possibly damaging |
Het |
Ror1 |
T |
C |
4: 100,191,722 (GRCm39) |
|
probably benign |
Het |
Rps6ka5 |
C |
A |
12: 100,540,258 (GRCm39) |
|
probably benign |
Het |
Sipa1l1 |
T |
A |
12: 82,404,105 (GRCm39) |
Y533N |
probably benign |
Het |
Snx6 |
T |
C |
12: 54,842,295 (GRCm39) |
|
probably benign |
Het |
Tbc1d9 |
T |
A |
8: 83,995,688 (GRCm39) |
|
probably null |
Het |
Tek |
T |
C |
4: 94,627,877 (GRCm39) |
|
probably benign |
Het |
Tor2a |
T |
A |
2: 32,651,509 (GRCm39) |
H241Q |
possibly damaging |
Het |
Wnt5a |
A |
T |
14: 28,244,871 (GRCm39) |
I353F |
probably benign |
Het |
|
Other mutations in Klra5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00838:Klra5
|
APN |
6 |
129,888,322 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL00972:Klra5
|
APN |
6 |
129,883,568 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01770:Klra5
|
APN |
6 |
129,883,627 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01978:Klra5
|
APN |
6 |
129,888,393 (GRCm39) |
missense |
probably benign |
0.32 |
IGL01998:Klra5
|
APN |
6 |
129,883,676 (GRCm39) |
nonsense |
probably null |
|
IGL02103:Klra5
|
APN |
6 |
129,888,307 (GRCm39) |
splice site |
probably null |
|
IGL03036:Klra5
|
APN |
6 |
129,885,830 (GRCm39) |
missense |
probably damaging |
0.99 |
R0314:Klra5
|
UTSW |
6 |
129,880,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R0378:Klra5
|
UTSW |
6 |
129,883,577 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0646:Klra5
|
UTSW |
6 |
129,880,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R0731:Klra5
|
UTSW |
6 |
129,885,759 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1552:Klra5
|
UTSW |
6 |
129,886,848 (GRCm39) |
missense |
probably damaging |
0.97 |
R1572:Klra5
|
UTSW |
6 |
129,883,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R1807:Klra5
|
UTSW |
6 |
129,876,383 (GRCm39) |
missense |
probably benign |
0.00 |
R4451:Klra5
|
UTSW |
6 |
129,885,797 (GRCm39) |
nonsense |
probably null |
|
R4619:Klra5
|
UTSW |
6 |
129,885,776 (GRCm39) |
missense |
probably benign |
0.05 |
R4647:Klra5
|
UTSW |
6 |
129,876,339 (GRCm39) |
missense |
probably damaging |
0.99 |
R5019:Klra5
|
UTSW |
6 |
129,876,352 (GRCm39) |
missense |
probably benign |
|
R5364:Klra5
|
UTSW |
6 |
129,876,316 (GRCm39) |
missense |
probably benign |
|
R6724:Klra5
|
UTSW |
6 |
129,883,643 (GRCm39) |
missense |
probably benign |
0.29 |
R6925:Klra5
|
UTSW |
6 |
129,888,420 (GRCm39) |
missense |
probably benign |
0.41 |
R7834:Klra5
|
UTSW |
6 |
129,876,253 (GRCm39) |
critical splice donor site |
probably null |
|
R8855:Klra5
|
UTSW |
6 |
129,880,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R8866:Klra5
|
UTSW |
6 |
129,880,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R9144:Klra5
|
UTSW |
6 |
129,886,911 (GRCm39) |
missense |
probably benign |
0.16 |
R9145:Klra5
|
UTSW |
6 |
129,886,911 (GRCm39) |
missense |
probably benign |
0.16 |
R9148:Klra5
|
UTSW |
6 |
129,886,911 (GRCm39) |
missense |
probably benign |
0.16 |
R9440:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9452:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9453:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9454:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9469:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9471:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9615:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9627:Klra5
|
UTSW |
6 |
129,883,701 (GRCm39) |
missense |
probably benign |
0.03 |
Z1176:Klra5
|
UTSW |
6 |
129,888,415 (GRCm39) |
missense |
not run |
|
|
Posted On |
2016-08-02 |