Incidental Mutation 'R6464:Klra9'
| ID |
517733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klra9
|
| Ensembl Gene |
ENSMUSG00000033024 |
| Gene Name |
killer cell lectin-like receptor subfamily A, member 9 |
| Synonyms |
Ly49I, LY49I1 |
| MMRRC Submission |
044597-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R6464 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
130155638-130170075 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 130155995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 253
(Y253*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071554]
[ENSMUST00000112032]
|
| AlphaFold |
Q2TJJ8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071554
AA Change: Y253*
|
| SMART Domains |
Protein: ENSMUSP00000071485
Gene: ENSMUSG00000033024
AA Change: Y253*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
73 |
116 |
4e-9 |
BLAST |
|
CLECT
|
143 |
258 |
1.55e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112032
AA Change: Y253*
|
| SMART Domains |
Protein: ENSMUSP00000107663
Gene: ENSMUSG00000033024
AA Change: Y253*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
73 |
116 |
4e-9 |
BLAST |
|
CLECT
|
143 |
258 |
1.55e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178922
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,265,354 (GRCm39) |
S769T |
probably damaging |
Het |
| Apoe |
G |
A |
7: 19,431,461 (GRCm39) |
T52M |
probably damaging |
Het |
| Arhgef10l |
A |
C |
4: 140,314,126 (GRCm39) |
M230R |
probably benign |
Het |
| Cdkl4 |
A |
T |
17: 80,832,781 (GRCm39) |
I321N |
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,481,391 (GRCm39) |
|
probably null |
Het |
| Cfap70 |
T |
C |
14: 20,451,107 (GRCm39) |
|
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,602,785 (GRCm39) |
Y195C |
probably damaging |
Het |
| Clip2 |
T |
C |
5: 134,520,779 (GRCm39) |
I999V |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,112,138 (GRCm39) |
D476G |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,666,152 (GRCm39) |
M1I |
probably null |
Het |
| Cyp27a1 |
T |
C |
1: 74,775,047 (GRCm39) |
V292A |
possibly damaging |
Het |
| Cyp2c29 |
A |
G |
19: 39,317,669 (GRCm39) |
Y385C |
probably damaging |
Het |
| Dsg3 |
A |
C |
18: 20,666,583 (GRCm39) |
R597S |
probably benign |
Het |
| Fam131c |
T |
C |
4: 141,109,653 (GRCm39) |
I95T |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,606,684 (GRCm39) |
C302* |
probably null |
Het |
| Fkbp15 |
T |
C |
4: 62,226,315 (GRCm39) |
K745E |
possibly damaging |
Het |
| Flg |
T |
A |
3: 93,188,688 (GRCm39) |
|
probably benign |
Het |
| Gm11559 |
T |
C |
11: 99,755,542 (GRCm39) |
C64R |
unknown |
Het |
| Helt |
T |
C |
8: 46,745,571 (GRCm39) |
D104G |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,876,862 (GRCm39) |
T1211A |
probably benign |
Het |
| Ifna9 |
T |
C |
4: 88,510,487 (GRCm39) |
R46G |
possibly damaging |
Het |
| Kif20b |
G |
A |
19: 34,911,841 (GRCm39) |
V235I |
probably benign |
Het |
| Kif7 |
A |
G |
7: 79,363,842 (GRCm39) |
V22A |
possibly damaging |
Het |
| Lipf |
A |
T |
19: 33,950,944 (GRCm39) |
Y305F |
probably benign |
Het |
| Lpar1 |
A |
G |
4: 58,486,875 (GRCm39) |
L132P |
possibly damaging |
Het |
| Magi1 |
A |
T |
6: 93,676,770 (GRCm39) |
V834E |
probably damaging |
Het |
| Meltf |
T |
C |
16: 31,709,594 (GRCm39) |
Y432H |
probably benign |
Het |
| Mroh2a |
G |
C |
1: 88,185,524 (GRCm39) |
E1510D |
probably damaging |
Het |
| Myo1f |
T |
C |
17: 33,795,621 (GRCm39) |
L59P |
probably damaging |
Het |
| Naa25 |
G |
A |
5: 121,556,024 (GRCm39) |
D271N |
probably damaging |
Het |
| Or10ag55-ps1 |
A |
T |
2: 87,139,951 (GRCm39) |
I273F |
probably damaging |
Het |
| Or8u3-ps |
A |
T |
2: 85,952,752 (GRCm39) |
I162F |
possibly damaging |
Het |
| Otoa |
A |
G |
7: 120,701,828 (GRCm39) |
Q169R |
probably damaging |
Het |
| Pde4dip |
C |
T |
3: 97,617,660 (GRCm39) |
D1723N |
probably damaging |
Het |
| Ptdss2 |
T |
C |
7: 140,732,124 (GRCm39) |
V175A |
probably damaging |
Het |
| Rdh8 |
G |
T |
9: 20,734,696 (GRCm39) |
R121L |
probably damaging |
Het |
| Rpl23 |
T |
C |
11: 97,669,111 (GRCm39) |
|
probably null |
Het |
| Scn5a |
T |
C |
9: 119,363,646 (GRCm39) |
D498G |
probably damaging |
Het |
| Slc39a14 |
G |
C |
14: 70,544,177 (GRCm39) |
L470V |
probably damaging |
Het |
| Smok2a |
C |
T |
17: 13,445,317 (GRCm39) |
A298V |
probably damaging |
Het |
| Tesk2 |
A |
C |
4: 116,660,046 (GRCm39) |
D388A |
probably damaging |
Het |
| Tnik |
G |
A |
3: 28,666,119 (GRCm39) |
|
probably null |
Het |
| Ube3a |
T |
A |
7: 58,925,931 (GRCm39) |
Y236* |
probably null |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vinac1 |
T |
C |
2: 128,881,465 (GRCm39) |
T154A |
possibly damaging |
Het |
| Vmn1r74 |
A |
T |
7: 11,581,131 (GRCm39) |
I144L |
possibly damaging |
Het |
| Vmn2r1 |
G |
A |
3: 64,008,766 (GRCm39) |
D482N |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,616,363 (GRCm39) |
|
probably null |
Het |
| Wdr97 |
A |
G |
15: 76,246,977 (GRCm39) |
T1413A |
probably benign |
Het |
| Zfp703 |
C |
G |
8: 27,469,355 (GRCm39) |
P340A |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 166,888,842 (GRCm39) |
S789G |
probably benign |
Het |
|
| Other mutations in Klra9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00650:Klra9
|
APN |
6 |
130,156,060 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00685:Klra9
|
APN |
6 |
130,159,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01083:Klra9
|
APN |
6 |
130,166,729 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01704:Klra9
|
APN |
6 |
130,166,744 (GRCm39) |
nonsense |
probably null |
|
|
IGL02510:Klra9
|
APN |
6 |
130,168,185 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02728:Klra9
|
APN |
6 |
130,168,149 (GRCm39) |
splice site |
probably null |
|
|
IGL02792:Klra9
|
APN |
6 |
130,165,643 (GRCm39) |
missense |
probably benign |
0.19 |
|
Ashen
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
FR4589:Klra9
|
UTSW |
6 |
130,159,366 (GRCm39) |
missense |
probably benign |
0.37 |
|
PIT4453001:Klra9
|
UTSW |
6 |
130,168,284 (GRCm39) |
start gained |
probably benign |
|
|
R0410:Klra9
|
UTSW |
6 |
130,165,707 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0926:Klra9
|
UTSW |
6 |
130,155,993 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1712:Klra9
|
UTSW |
6 |
130,166,659 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1897:Klra9
|
UTSW |
6 |
130,162,555 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1972:Klra9
|
UTSW |
6 |
130,159,345 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3683:Klra9
|
UTSW |
6 |
130,168,260 (GRCm39) |
missense |
probably benign |
|
|
R4066:Klra9
|
UTSW |
6 |
130,165,707 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4687:Klra9
|
UTSW |
6 |
130,162,480 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5062:Klra9
|
UTSW |
6 |
130,156,072 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5184:Klra9
|
UTSW |
6 |
130,165,675 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5479:Klra9
|
UTSW |
6 |
130,156,075 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5809:Klra9
|
UTSW |
6 |
130,156,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6410:Klra9
|
UTSW |
6 |
130,155,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6430:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6433:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6434:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6449:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6450:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6466:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6488:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6882:Klra9
|
UTSW |
6 |
130,155,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6902:Klra9
|
UTSW |
6 |
130,156,003 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6946:Klra9
|
UTSW |
6 |
130,156,003 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7204:Klra9
|
UTSW |
6 |
130,165,643 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7229:Klra9
|
UTSW |
6 |
130,168,224 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7544:Klra9
|
UTSW |
6 |
130,168,183 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7821:Klra9
|
UTSW |
6 |
130,162,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8680:Klra9
|
UTSW |
6 |
130,165,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8912:Klra9
|
UTSW |
6 |
130,159,368 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9788:Klra9
|
UTSW |
6 |
130,159,385 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTCCCAATGTTCTTGCAGC -3'
(R):5'- AGAGTTTTGGTGTGATAAGAGACC -3'
Sequencing Primer
(F):5'- AGCTTTGTTTCTCTTCACAGCAGAC -3'
(R):5'- CATGATGAACTTAGGCTAAACTTAGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation