Incidental Mutation 'R0378:Klra5'
| ID |
36464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klra5
|
| Ensembl Gene |
ENSMUSG00000030173 |
| Gene Name |
killer cell lectin-like receptor, subfamily A, member 5 |
| Synonyms |
Ly49e |
| MMRRC Submission |
038584-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0378 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| 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 |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
95% (40/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
C |
A |
8: 114,469,749 (GRCm39) |
R651L |
probably damaging |
Het |
| Amd1 |
T |
C |
10: 40,165,380 (GRCm39) |
D317G |
possibly damaging |
Het |
| Artn |
A |
G |
4: 117,784,815 (GRCm39) |
|
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,471,604 (GRCm39) |
V988E |
probably benign |
Het |
| Cyp2c65 |
G |
T |
19: 39,061,662 (GRCm39) |
C216F |
probably benign |
Het |
| Cyp3a11 |
T |
C |
5: 145,805,417 (GRCm39) |
E200G |
probably benign |
Het |
| Cyp3a25 |
T |
A |
5: 145,923,652 (GRCm39) |
K330N |
probably damaging |
Het |
| Duox2 |
C |
A |
2: 122,115,064 (GRCm39) |
V1138L |
probably benign |
Het |
| Erc2 |
A |
G |
14: 27,733,651 (GRCm39) |
D567G |
probably damaging |
Het |
| Eri2 |
A |
G |
7: 119,393,139 (GRCm39) |
|
probably null |
Het |
| Foxa3 |
A |
G |
7: 18,757,294 (GRCm39) |
Y17H |
probably damaging |
Het |
| Fto |
T |
C |
8: 92,200,940 (GRCm39) |
S324P |
probably damaging |
Het |
| Get3 |
A |
T |
8: 85,751,893 (GRCm39) |
M1K |
probably null |
Het |
| Gls2 |
T |
G |
10: 128,043,180 (GRCm39) |
L457R |
probably benign |
Het |
| Gstcd |
A |
T |
3: 132,692,169 (GRCm39) |
L582H |
probably damaging |
Het |
| Gtf3c1 |
G |
A |
7: 125,246,786 (GRCm39) |
R1508* |
probably null |
Het |
| Kif21a |
T |
C |
15: 90,853,977 (GRCm39) |
|
probably null |
Het |
| Lgr5 |
T |
C |
10: 115,290,404 (GRCm39) |
D456G |
probably damaging |
Het |
| Mau2 |
A |
G |
8: 70,483,305 (GRCm39) |
S186P |
probably damaging |
Het |
| Msr1 |
T |
C |
8: 40,042,423 (GRCm39) |
D384G |
possibly damaging |
Het |
| Ncf4 |
T |
C |
15: 78,137,503 (GRCm39) |
V93A |
probably damaging |
Het |
| Oas1f |
T |
G |
5: 120,994,489 (GRCm39) |
C337G |
probably damaging |
Het |
| Or10al3 |
A |
G |
17: 38,011,932 (GRCm39) |
M124V |
probably damaging |
Het |
| Or5p58 |
A |
T |
7: 107,694,429 (GRCm39) |
F116Y |
probably benign |
Het |
| Or6c33 |
T |
A |
10: 129,853,872 (GRCm39) |
L214H |
probably damaging |
Het |
| Pwwp3a |
C |
A |
10: 80,074,713 (GRCm39) |
|
probably null |
Het |
| Rasl10b |
T |
C |
11: 83,309,519 (GRCm39) |
S159P |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Smg8 |
C |
A |
11: 86,971,249 (GRCm39) |
D841Y |
probably damaging |
Het |
| Sox7 |
T |
C |
14: 64,181,398 (GRCm39) |
V65A |
probably damaging |
Het |
| Sp140 |
C |
T |
1: 85,547,772 (GRCm39) |
|
probably benign |
Het |
| Srsf10 |
A |
G |
4: 135,590,501 (GRCm39) |
Y142C |
possibly damaging |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tcerg1l |
A |
G |
7: 137,878,384 (GRCm39) |
V326A |
probably benign |
Het |
| Tcl1b5 |
T |
A |
12: 105,145,326 (GRCm39) |
W97R |
probably damaging |
Het |
| Tmem108 |
T |
C |
9: 103,376,856 (GRCm39) |
R198G |
possibly damaging |
Het |
| Ube2ql1 |
T |
A |
13: 69,887,017 (GRCm39) |
Q148L |
possibly damaging |
Het |
| Vmn1r5 |
A |
T |
6: 56,962,570 (GRCm39) |
I82L |
probably benign |
Het |
| Wdr6 |
A |
T |
9: 108,453,063 (GRCm39) |
S273R |
probably damaging |
Het |
| Ylpm1 |
C |
T |
12: 85,043,850 (GRCm39) |
|
probably benign |
Het |
| Zfp90 |
G |
A |
8: 107,152,138 (GRCm39) |
R617Q |
possibly damaging |
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 |
|
|
IGL02995:Klra5
|
APN |
6 |
129,883,577 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGACTTGTGTCCCACAGTTATGTTC -3'
(R):5'- GGCCTCAAACTGTTAGTGATCTTCCTG -3'
Sequencing Primer
(F):5'- CCCACAGTTATGTTCACATTACAGG -3'
(R):5'- tctctaatgattcatccatgattgac -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation