Incidental Mutation 'R6561:Klri1'
| ID |
523132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klri1
|
| Ensembl Gene |
ENSMUSG00000067610 |
| Gene Name |
killer cell lectin-like receptor family I member 1 |
| Synonyms |
|
| MMRRC Submission |
044685-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R6561 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
129674181-129694095 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129693964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 41
(V41A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088046]
|
| AlphaFold |
B2KG20 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088046
AA Change: V41A
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000085362
Gene: ENSMUSG00000067610
AA Change: V41A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
CLECT
|
132 |
245 |
3.32e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,977,825 (GRCm39) |
I468F |
probably benign |
Het |
| Ahsa2 |
T |
A |
11: 23,441,036 (GRCm39) |
I202F |
possibly damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Anapc1 |
A |
G |
2: 128,505,919 (GRCm39) |
V639A |
probably damaging |
Het |
| Cdh12 |
A |
G |
15: 21,492,680 (GRCm39) |
Y233C |
probably damaging |
Het |
| Dchs2 |
G |
T |
3: 83,036,476 (GRCm39) |
V408F |
probably benign |
Het |
| Dnmt3c |
T |
A |
2: 153,561,950 (GRCm39) |
L551Q |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,578,365 (GRCm39) |
F746S |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,732,149 (GRCm39) |
R157C |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ier3ip1 |
T |
A |
18: 77,027,344 (GRCm39) |
S58T |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,135,504 (GRCm39) |
V1809A |
probably damaging |
Het |
| Kif22 |
T |
A |
7: 126,630,225 (GRCm39) |
N437I |
probably benign |
Het |
| Lrrc14 |
T |
A |
15: 76,597,646 (GRCm39) |
D125E |
possibly damaging |
Het |
| Nek10 |
A |
T |
14: 14,828,448 (GRCm38) |
N90I |
possibly damaging |
Het |
| Nostrin |
G |
A |
2: 69,011,201 (GRCm39) |
A331T |
probably benign |
Het |
| Or4k2 |
T |
C |
14: 50,423,775 (GRCm39) |
K300E |
probably damaging |
Het |
| Or5b109 |
A |
G |
19: 13,212,394 (GRCm39) |
Y260C |
probably damaging |
Het |
| Or8b12i |
T |
C |
9: 20,082,073 (GRCm39) |
T265A |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,333,960 (GRCm39) |
V223A |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Skic3 |
T |
A |
13: 76,298,638 (GRCm39) |
S1115T |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,765,300 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,314,496 (GRCm39) |
I772T |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,797,954 (GRCm39) |
N1927S |
probably benign |
Het |
| Tab1 |
T |
C |
15: 80,033,031 (GRCm39) |
V105A |
probably benign |
Het |
| Trbv15 |
A |
T |
6: 41,118,414 (GRCm39) |
T57S |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,886,826 (GRCm39) |
I146F |
probably damaging |
Het |
| Vmn2r39 |
T |
A |
7: 9,018,092 (GRCm39) |
Y748F |
probably damaging |
Het |
| Zfp493 |
T |
A |
13: 67,934,338 (GRCm39) |
V65D |
possibly damaging |
Het |
|
| Other mutations in Klri1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01328:Klri1
|
APN |
6 |
129,675,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01380:Klri1
|
APN |
6 |
129,675,761 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01608:Klri1
|
APN |
6 |
129,675,130 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01778:Klri1
|
APN |
6 |
129,694,010 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0931:Klri1
|
UTSW |
6 |
129,674,381 (GRCm39) |
splice site |
probably benign |
|
|
R1646:Klri1
|
UTSW |
6 |
129,680,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1649:Klri1
|
UTSW |
6 |
129,675,204 (GRCm39) |
missense |
probably benign |
|
|
R1746:Klri1
|
UTSW |
6 |
129,675,118 (GRCm39) |
splice site |
probably null |
|
|
R1960:Klri1
|
UTSW |
6 |
129,674,347 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6773:Klri1
|
UTSW |
6 |
129,680,510 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8169:Klri1
|
UTSW |
6 |
129,694,070 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8861:Klri1
|
UTSW |
6 |
129,675,164 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8907:Klri1
|
UTSW |
6 |
129,680,283 (GRCm39) |
missense |
probably null |
0.01 |
|
R9122:Klri1
|
UTSW |
6 |
129,693,995 (GRCm39) |
nonsense |
probably null |
|
|
R9199:Klri1
|
UTSW |
6 |
129,674,264 (GRCm39) |
makesense |
probably null |
|
|
R9438:Klri1
|
UTSW |
6 |
129,675,879 (GRCm39) |
missense |
probably benign |
0.10 |
|
X0021:Klri1
|
UTSW |
6 |
129,693,874 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTGACAGGTATTGAGAGCC -3'
(R):5'- AGGCTTAGAGATGGCTCAGC -3'
Sequencing Primer
(F):5'- TGTGACAGGTATTGAGAGCCATAATC -3'
(R):5'- CTCAGCAATGAAATGTGCATGTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation