Incidental Mutation 'R1534:Klra3'
| ID |
166817 |
| 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 |
039573-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R1534 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
130300252-130314537 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 130310107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 138
(R138G)
|
| 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: R138G
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000085333
Gene: ENSMUSG00000067591
AA Change: R138G
| 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: R138G
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107629
Gene: ENSMUSG00000067591
AA Change: R138G
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
C |
1: 165,345,881 (GRCm39) |
I310T |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 35,073,629 (GRCm39) |
V469A |
possibly damaging |
Het |
| Agrn |
C |
T |
4: 156,261,141 (GRCm39) |
C652Y |
probably damaging |
Het |
| Ankfn1 |
C |
T |
11: 89,413,977 (GRCm39) |
V133M |
probably damaging |
Het |
| Ankrd13c |
A |
G |
3: 157,706,757 (GRCm39) |
T448A |
probably benign |
Het |
| Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
| B4galt2 |
T |
C |
4: 117,734,669 (GRCm39) |
H233R |
probably damaging |
Het |
| Bpifb5 |
T |
G |
2: 154,071,419 (GRCm39) |
Y249D |
possibly damaging |
Het |
| Brd1 |
T |
C |
15: 88,573,866 (GRCm39) |
I1078V |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,726,083 (GRCm39) |
E3104G |
probably damaging |
Het |
| Cyp2c69 |
T |
A |
19: 39,839,593 (GRCm39) |
K343N |
probably benign |
Het |
| Cyp4f18 |
T |
A |
8: 72,746,799 (GRCm39) |
D331V |
probably damaging |
Het |
| D130040H23Rik |
T |
C |
8: 69,755,378 (GRCm39) |
V261A |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,421,247 (GRCm39) |
D391G |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
| Fat4 |
T |
C |
3: 38,944,238 (GRCm39) |
F1044L |
probably damaging |
Het |
| Frrs1 |
A |
T |
3: 116,672,057 (GRCm39) |
T52S |
probably benign |
Het |
| Gan |
G |
A |
8: 117,914,168 (GRCm39) |
V189I |
probably benign |
Het |
| Hnf1b |
A |
G |
11: 83,784,409 (GRCm39) |
|
probably benign |
Het |
| Itgae |
T |
C |
11: 73,036,431 (GRCm39) |
I1123T |
possibly damaging |
Het |
| Lrrc18 |
A |
G |
14: 32,730,478 (GRCm39) |
K6E |
possibly damaging |
Het |
| Map2 |
G |
A |
1: 66,452,339 (GRCm39) |
V492I |
probably benign |
Het |
| Mtr |
A |
T |
13: 12,250,430 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
G |
T |
11: 62,269,330 (GRCm39) |
A689E |
possibly damaging |
Het |
| Or52n2c |
G |
A |
7: 104,574,621 (GRCm39) |
L117F |
possibly damaging |
Het |
| Or5w22 |
T |
A |
2: 87,363,016 (GRCm39) |
V213D |
probably damaging |
Het |
| Palm |
T |
G |
10: 79,652,737 (GRCm39) |
V42G |
probably damaging |
Het |
| Pcm1 |
G |
A |
8: 41,740,738 (GRCm39) |
V995I |
probably benign |
Het |
| Pfkp |
A |
G |
13: 6,669,574 (GRCm39) |
V215A |
probably damaging |
Het |
| Prkg2 |
T |
C |
5: 99,142,420 (GRCm39) |
Y238C |
probably damaging |
Het |
| Prr14 |
C |
T |
7: 127,073,154 (GRCm39) |
A167V |
probably benign |
Het |
| Ptprn |
A |
C |
1: 75,234,587 (GRCm39) |
|
probably null |
Het |
| Rexo2 |
A |
T |
9: 48,380,190 (GRCm39) |
I214N |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,830,233 (GRCm39) |
S645P |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Satb2 |
A |
T |
1: 56,987,392 (GRCm39) |
C64* |
probably null |
Het |
| Sez6 |
A |
G |
11: 77,853,871 (GRCm39) |
Y347C |
probably damaging |
Het |
| Sos2 |
A |
G |
12: 69,663,729 (GRCm39) |
I585T |
probably damaging |
Het |
| Spg11 |
G |
A |
2: 121,922,806 (GRCm39) |
T881M |
probably damaging |
Het |
| Tiam1 |
A |
T |
16: 89,664,396 (GRCm39) |
|
probably null |
Het |
| Tlcd5 |
A |
G |
9: 43,022,923 (GRCm39) |
W126R |
probably damaging |
Het |
| Top1 |
T |
C |
2: 160,556,152 (GRCm39) |
I537T |
probably damaging |
Het |
| Trappc6a |
A |
G |
7: 19,248,138 (GRCm39) |
S33G |
probably benign |
Het |
| Tspan11 |
G |
C |
6: 127,926,768 (GRCm39) |
V239L |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,155,462 (GRCm39) |
V2190A |
possibly damaging |
Het |
| Usp28 |
A |
G |
9: 48,896,806 (GRCm39) |
D9G |
possibly damaging |
Het |
| Uty |
A |
G |
Y: 1,245,440 (GRCm39) |
V35A |
probably benign |
Het |
| Vmn2r56 |
A |
G |
7: 12,427,954 (GRCm39) |
S771P |
probably benign |
Het |
| Wars2 |
C |
T |
3: 99,124,177 (GRCm39) |
A346V |
probably damaging |
Het |
| Wdr87-ps |
G |
T |
7: 29,229,854 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp142 |
G |
T |
1: 74,611,247 (GRCm39) |
N849K |
probably benign |
Het |
| Zfp180 |
A |
T |
7: 23,800,948 (GRCm39) |
N66I |
probably benign |
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 |
|
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 |
|
R4287:Klra3
|
UTSW |
6 |
130,311,265 (GRCm39) |
missense |
probably benign |
0.08 |
|
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'- CAGCCTCATTCACTGTGACACTGAC -3'
(R):5'- AGCAACATGCAAAGGGCTTTCAAC -3'
Sequencing Primer
(F):5'- GAGTGCCAAAGAGAACTTTCCTTC -3'
(R):5'- TGCAAAGGGCTTTCAACTTAAAGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation