Incidental Mutation 'R4451:Klra5'
| ID |
328966 |
| 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 |
041712-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4451 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
129874715-129890188 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 129885797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 31
(R31*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014683]
[ENSMUST00000118060]
[ENSMUST00000169901]
|
| AlphaFold |
Q60652 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000014683
AA Change: R121*
|
| SMART Domains |
Protein: ENSMUSP00000014683
Gene: ENSMUSG00000030173
AA Change: R121*
| 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 null
Transcript: ENSMUST00000118060
AA Change: R121*
|
| SMART Domains |
Protein: ENSMUSP00000112795
Gene: ENSMUSG00000030173
AA Change: R121*
| 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 null
Transcript: ENSMUST00000167079
AA Change: R31*
|
| SMART Domains |
Protein: ENSMUSP00000125971
Gene: ENSMUSG00000030173
AA Change: R31*
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
53 |
168 |
3.66e-18 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169901
AA Change: R31*
|
| SMART Domains |
Protein: ENSMUSP00000126290
Gene: ENSMUSG00000030173
AA Change: R31*
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
53 |
168 |
3.66e-18 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (43/43) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
A |
C |
5: 62,906,513 (GRCm39) |
F169V |
probably benign |
Het |
| Baiap2l1 |
T |
A |
5: 144,215,362 (GRCm39) |
Y381F |
probably damaging |
Het |
| Cdc27 |
A |
T |
11: 104,408,221 (GRCm39) |
M563K |
probably benign |
Het |
| Cela3b |
G |
A |
4: 137,148,355 (GRCm39) |
|
probably benign |
Het |
| Cyp2c29 |
A |
T |
19: 39,279,270 (GRCm39) |
D50V |
probably damaging |
Het |
| Dbpht2 |
A |
T |
12: 74,345,806 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah9 |
T |
A |
11: 65,772,467 (GRCm39) |
Q3755L |
probably benign |
Het |
| Dnajc2 |
T |
C |
5: 21,962,792 (GRCm39) |
T588A |
possibly damaging |
Het |
| Dync2h1 |
T |
A |
9: 6,983,477 (GRCm39) |
R4022S |
probably benign |
Het |
| Gm20481 |
T |
G |
17: 35,191,109 (GRCm39) |
|
probably benign |
Het |
| Gm7347 |
A |
G |
5: 26,260,004 (GRCm39) |
I182T |
possibly damaging |
Het |
| Gns |
G |
A |
10: 121,212,601 (GRCm39) |
G188S |
probably damaging |
Het |
| Grm5 |
T |
G |
7: 87,724,340 (GRCm39) |
|
probably null |
Het |
| Gstm4 |
T |
C |
3: 107,951,291 (GRCm39) |
|
probably null |
Het |
| Il7r |
T |
A |
15: 9,513,034 (GRCm39) |
K158N |
probably benign |
Het |
| Irs1 |
T |
C |
1: 82,266,749 (GRCm39) |
Y489C |
probably benign |
Het |
| Kcns1 |
C |
T |
2: 164,010,598 (GRCm39) |
E54K |
possibly damaging |
Het |
| Krt13 |
T |
C |
11: 100,008,827 (GRCm39) |
T409A |
unknown |
Het |
| Lce1e |
C |
T |
3: 92,614,967 (GRCm39) |
G127S |
unknown |
Het |
| Mfsd14a |
T |
C |
3: 116,456,127 (GRCm39) |
M1V |
probably null |
Het |
| Micall2 |
T |
C |
5: 139,692,852 (GRCm39) |
E891G |
probably damaging |
Het |
| Mpeg1 |
A |
T |
19: 12,440,596 (GRCm39) |
K685* |
probably null |
Het |
| Nbea |
A |
G |
3: 55,899,753 (GRCm39) |
|
probably null |
Het |
| Nup155 |
A |
G |
15: 8,180,366 (GRCm39) |
M1148V |
probably benign |
Het |
| Or51aa5 |
A |
G |
7: 103,167,184 (GRCm39) |
S136P |
probably damaging |
Het |
| Or5m3b |
T |
C |
2: 85,872,303 (GRCm39) |
S215P |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,542,508 (GRCm39) |
D695V |
possibly damaging |
Het |
| Ptf1a |
G |
T |
2: 19,451,092 (GRCm39) |
A141S |
possibly damaging |
Het |
| Pxmp2 |
A |
T |
5: 110,425,531 (GRCm39) |
V168E |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,644,505 (GRCm39) |
K427E |
probably damaging |
Het |
| Susd2 |
A |
G |
10: 75,475,232 (GRCm39) |
V526A |
probably damaging |
Het |
| Tbx2 |
T |
C |
11: 85,731,643 (GRCm39) |
S647P |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,637,996 (GRCm39) |
T651A |
probably benign |
Het |
| Trim68 |
T |
A |
7: 102,333,680 (GRCm39) |
M1L |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,584,250 (GRCm39) |
L20540* |
probably null |
Het |
| Usf3 |
A |
T |
16: 44,038,251 (GRCm39) |
K910N |
possibly damaging |
Het |
| Vmn1r14 |
T |
G |
6: 57,211,213 (GRCm39) |
Y220D |
possibly damaging |
Het |
| Vmn1r209 |
T |
A |
13: 22,990,668 (GRCm39) |
K7N |
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 |
|
|
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 |
|
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 |
|
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'- CTCTACATGAAGTAAGTGACCCC -3'
(R):5'- GGCTATCCACATGAAGCTATTTC -3'
Sequencing Primer
(F):5'- CCCCAAATGATTAACCCAAAGATC -3'
(R):5'- ATCCACATGAAGCTATTTCTCTACC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation