Incidental Mutation 'R4287:Klra3'
| ID |
368372 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klra3
|
| Ensembl Gene |
ENSMUSG00000067591 |
| Gene Name |
killer cell lectin-like receptor, subfamily A, member 3 |
| Synonyms |
NK-2.1, Nk2.1, Ly49c, Nk2, 5E6, Ly49C, Nk-2 |
| MMRRC Submission |
041652-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R4287 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
130300252-130314537 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130311265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 39
(C39R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088017]
[ENSMUST00000111998]
|
| AlphaFold |
Q64329 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088017
AA Change: C39R
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000085333
Gene: ENSMUSG00000067591
AA Change: C39R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
66 |
N/A |
INTRINSIC |
|
Blast:CLECT
|
73 |
117 |
1e-7 |
BLAST |
|
CLECT
|
143 |
258 |
7.11e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111998
AA Change: C39R
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000107629
Gene: ENSMUSG00000067591
AA Change: C39R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
66 |
N/A |
INTRINSIC |
|
Blast:CLECT
|
73 |
117 |
1e-7 |
BLAST |
|
CLECT
|
143 |
258 |
7.11e-16 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc5 |
A |
G |
5: 122,938,664 (GRCm39) |
V362A |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,973,722 (GRCm39) |
C2594S |
probably damaging |
Het |
| Ccdc82 |
C |
A |
9: 13,253,043 (GRCm39) |
Q303K |
probably benign |
Het |
| Cog1 |
A |
G |
11: 113,544,853 (GRCm39) |
Y345C |
probably damaging |
Het |
| Fpgt |
T |
C |
3: 154,796,997 (GRCm39) |
|
probably benign |
Het |
| Glrb |
A |
T |
3: 80,752,539 (GRCm39) |
V408D |
possibly damaging |
Het |
| Gm7135 |
A |
G |
1: 97,328,123 (GRCm39) |
|
noncoding transcript |
Het |
| Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
| Itgav |
G |
T |
2: 83,555,184 (GRCm39) |
E36* |
probably null |
Het |
| Kidins220 |
G |
A |
12: 25,106,845 (GRCm39) |
E1433K |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lce1i |
A |
G |
3: 92,684,742 (GRCm39) |
S145P |
unknown |
Het |
| Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
G |
A |
11: 101,914,289 (GRCm39) |
A102V |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,040,632 (GRCm39) |
D727E |
probably benign |
Het |
| Ndufb8 |
T |
C |
19: 44,541,130 (GRCm39) |
I107V |
probably benign |
Het |
| Or5h18 |
A |
T |
16: 58,847,976 (GRCm39) |
M98K |
probably benign |
Het |
| Pnn |
C |
T |
12: 59,118,956 (GRCm39) |
T513I |
possibly damaging |
Het |
| Ric8a |
A |
G |
7: 140,441,335 (GRCm39) |
Y210C |
probably damaging |
Het |
| Ripor2 |
G |
A |
13: 24,908,992 (GRCm39) |
V1037M |
probably damaging |
Het |
| Rreb1 |
A |
T |
13: 38,115,907 (GRCm39) |
T1089S |
probably benign |
Het |
| Rrs1 |
C |
T |
1: 9,616,440 (GRCm39) |
S231L |
probably damaging |
Het |
| Rrs1 |
C |
T |
1: 9,616,448 (GRCm39) |
R234C |
possibly damaging |
Het |
| Sec23ip |
A |
G |
7: 128,379,057 (GRCm39) |
D838G |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,902,276 (GRCm39) |
I464V |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| Slc41a3 |
A |
T |
6: 90,617,904 (GRCm39) |
H310L |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,828,268 (GRCm39) |
S363P |
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,543,509 (GRCm39) |
R1269Q |
probably benign |
Het |
| Tmed3 |
A |
G |
9: 89,586,951 (GRCm39) |
S10P |
probably benign |
Het |
| Tomm70a |
T |
G |
16: 56,960,985 (GRCm39) |
Y313D |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,207,039 (GRCm39) |
E810G |
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
probably damaging |
Het |
| Unc5d |
T |
A |
8: 29,209,824 (GRCm39) |
Y432F |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,168,337 (GRCm39) |
|
probably benign |
Het |
| Zfp629 |
T |
C |
7: 127,211,110 (GRCm39) |
Y233C |
probably damaging |
Het |
| Zfp986 |
T |
C |
4: 145,619,088 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Klra3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00836:Klra3
|
APN |
6 |
130,304,107 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0004:Klra3
|
UTSW |
6 |
130,300,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1532:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1533:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1534:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1536:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1547:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1548:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1566:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1567:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1769:Klra3
|
UTSW |
6 |
130,307,226 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1772:Klra3
|
UTSW |
6 |
130,300,671 (GRCm39) |
missense |
probably benign |
|
|
R1806:Klra3
|
UTSW |
6 |
130,304,033 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2131:Klra3
|
UTSW |
6 |
130,312,738 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2138:Klra3
|
UTSW |
6 |
130,310,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2152:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2154:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2906:Klra3
|
UTSW |
6 |
130,310,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2907:Klra3
|
UTSW |
6 |
130,310,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4732:Klra3
|
UTSW |
6 |
130,304,095 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4733:Klra3
|
UTSW |
6 |
130,304,095 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4829:Klra3
|
UTSW |
6 |
130,300,579 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5308:Klra3
|
UTSW |
6 |
130,311,270 (GRCm39) |
splice site |
probably null |
|
|
R6701:Klra3
|
UTSW |
6 |
130,307,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7019:Klra3
|
UTSW |
6 |
130,304,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7174:Klra3
|
UTSW |
6 |
130,312,941 (GRCm39) |
splice site |
probably null |
|
|
R8542:Klra3
|
UTSW |
6 |
130,310,096 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8924:Klra3
|
UTSW |
6 |
130,312,732 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9235:Klra3
|
UTSW |
6 |
130,311,218 (GRCm39) |
nonsense |
probably null |
|
|
R9716:Klra3
|
UTSW |
6 |
130,300,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0052:Klra3
|
UTSW |
6 |
130,310,143 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Klra3
|
UTSW |
6 |
130,312,684 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Klra3
|
UTSW |
6 |
130,307,084 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGAACCATGGACAGTGTG -3'
(R):5'- GGATTCACAATACAAGGTCAAGC -3'
Sequencing Primer
(F):5'- CCATGGACAGTGTGTATAACTGC -3'
(R):5'- GTGGAAATTCAGACACATAGGATTTC -3'
|
| Posted On |
2016-02-02 |
Incidental Mutation