Incidental Mutation 'IGL01320:Klra1'
| ID |
278272 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klra1
|
| Ensembl Gene |
ENSMUSG00000079853 |
| Gene Name |
killer cell lectin-like receptor, subfamily A, member 1 |
| Synonyms |
Ly49A, Ly49o<129> |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL01320
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
130340881-130363837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 130341224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 250
(I250F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032288]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032288
AA Change: I250F
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000032288
Gene: ENSMUSG00000079853
AA Change: I250F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
73 |
118 |
9e-8 |
BLAST |
|
CLECT
|
139 |
254 |
4.02e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127570
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,552,551 (GRCm39) |
E229G |
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,038,422 (GRCm39) |
L368Q |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,407,988 (GRCm39) |
S1410T |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,039,159 (GRCm39) |
|
probably benign |
Het |
| Bmal1 |
T |
C |
7: 112,902,614 (GRCm39) |
I421T |
probably damaging |
Het |
| Chrdl2 |
A |
G |
7: 99,666,248 (GRCm39) |
Y56C |
probably damaging |
Het |
| Crnn |
T |
C |
3: 93,055,519 (GRCm39) |
S102P |
probably damaging |
Het |
| Cyb5a |
T |
C |
18: 84,897,648 (GRCm39) |
I115T |
probably damaging |
Het |
| Daw1 |
T |
C |
1: 83,175,901 (GRCm39) |
I213T |
possibly damaging |
Het |
| Dcp1b |
T |
A |
6: 119,192,036 (GRCm39) |
S317R |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,473,205 (GRCm39) |
M3474V |
probably benign |
Het |
| E2f7 |
G |
A |
10: 110,589,954 (GRCm39) |
V36I |
probably benign |
Het |
| Esrp1 |
A |
G |
4: 11,384,374 (GRCm39) |
I103T |
possibly damaging |
Het |
| Hap1 |
G |
A |
11: 100,240,206 (GRCm39) |
T530I |
probably damaging |
Het |
| Hps3 |
T |
C |
3: 20,084,633 (GRCm39) |
N185S |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,062,040 (GRCm39) |
T332A |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,027,784 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,186,991 (GRCm39) |
V11A |
probably benign |
Het |
| Nipsnap2 |
C |
T |
5: 129,821,828 (GRCm39) |
T108M |
probably damaging |
Het |
| Or10ab4 |
A |
G |
7: 107,654,188 (GRCm39) |
|
probably benign |
Het |
| Or5w22 |
T |
A |
2: 87,362,629 (GRCm39) |
M84K |
probably benign |
Het |
| Ppid |
A |
G |
3: 79,502,584 (GRCm39) |
E46G |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,866,375 (GRCm39) |
L626P |
probably damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,240,606 (GRCm39) |
I410F |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,276,517 (GRCm39) |
|
probably benign |
Het |
| Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
| St8sia5 |
A |
T |
18: 77,342,318 (GRCm39) |
T307S |
probably damaging |
Het |
| Stac2 |
T |
C |
11: 97,930,921 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
T |
C |
17: 3,556,020 (GRCm39) |
L77P |
probably damaging |
Het |
| Tmem87b |
G |
T |
2: 128,673,136 (GRCm39) |
G190V |
probably damaging |
Het |
| Trav7-6 |
T |
C |
14: 53,954,565 (GRCm39) |
S32P |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,803,219 (GRCm39) |
|
probably null |
Het |
| Wnt1 |
C |
A |
15: 98,690,404 (GRCm39) |
D244E |
possibly damaging |
Het |
|
| Other mutations in Klra1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01132:Klra1
|
APN |
6 |
130,341,237 (GRCm39) |
nonsense |
probably null |
|
|
IGL01322:Klra1
|
APN |
6 |
130,341,224 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02149:Klra1
|
APN |
6 |
130,352,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02666:Klra1
|
APN |
6 |
130,341,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02895:Klra1
|
APN |
6 |
130,352,203 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0004:Klra1
|
UTSW |
6 |
130,349,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0408:Klra1
|
UTSW |
6 |
130,354,737 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0442:Klra1
|
UTSW |
6 |
130,349,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0498:Klra1
|
UTSW |
6 |
130,349,782 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0765:Klra1
|
UTSW |
6 |
130,356,055 (GRCm39) |
splice site |
probably benign |
|
|
R1761:Klra1
|
UTSW |
6 |
130,349,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1922:Klra1
|
UTSW |
6 |
130,349,828 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1987:Klra1
|
UTSW |
6 |
130,354,742 (GRCm39) |
missense |
probably benign |
|
|
R2882:Klra1
|
UTSW |
6 |
130,354,826 (GRCm39) |
splice site |
probably null |
|
|
R5054:Klra1
|
UTSW |
6 |
130,352,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5190:Klra1
|
UTSW |
6 |
130,352,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5572:Klra1
|
UTSW |
6 |
130,349,802 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5825:Klra1
|
UTSW |
6 |
130,357,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6784:Klra1
|
UTSW |
6 |
130,349,817 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8957:Klra1
|
UTSW |
6 |
130,357,609 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9154:Klra1
|
UTSW |
6 |
130,357,607 (GRCm39) |
missense |
|
|
|
Z1176:Klra1
|
UTSW |
6 |
130,349,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation