Incidental Mutation 'R2394:Lrrc46'
ID |
247921 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc46
|
Ensembl Gene |
ENSMUSG00000020878 |
Gene Name |
leucine rich repeat containing 46 |
Synonyms |
1700006D24Rik |
MMRRC Submission |
040362-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R2394 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
96925428-96932195 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96929657 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 60
(I60V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021251
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001485]
[ENSMUST00000021249]
[ENSMUST00000021251]
[ENSMUST00000054252]
|
AlphaFold |
Q9DAP0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001485
|
SMART Domains |
Protein: ENSMUSP00000001485 Gene: ENSMUSG00000001445
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
73 |
N/A |
INTRINSIC |
low complexity region
|
109 |
120 |
N/A |
INTRINSIC |
low complexity region
|
202 |
211 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000021249
|
SMART Domains |
Protein: ENSMUSP00000021249 Gene: ENSMUSG00000020877
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
Pfam:Peptidase_C69
|
83 |
254 |
2e-10 |
PFAM |
coiled coil region
|
362 |
395 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021251
AA Change: I60V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000021251 Gene: ENSMUSG00000020878 AA Change: I60V
Domain | Start | End | E-Value | Type |
SCOP:d1h6ua2
|
44 |
150 |
1e-15 |
SMART |
Blast:LRR
|
69 |
91 |
7e-6 |
BLAST |
low complexity region
|
179 |
191 |
N/A |
INTRINSIC |
low complexity region
|
209 |
225 |
N/A |
INTRINSIC |
low complexity region
|
265 |
292 |
N/A |
INTRINSIC |
low complexity region
|
297 |
323 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000054252
|
SMART Domains |
Protein: ENSMUSP00000103244 Gene: ENSMUSG00000001445
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
73 |
N/A |
INTRINSIC |
low complexity region
|
109 |
120 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120287
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126874
|
Meta Mutation Damage Score |
0.3673 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L13Rik |
A |
T |
7: 29,980,053 (GRCm39) |
|
probably benign |
Het |
Abca17 |
T |
C |
17: 24,500,190 (GRCm39) |
|
probably null |
Het |
Atxn7 |
T |
C |
14: 14,100,237 (GRCm38) |
V641A |
probably damaging |
Het |
C3 |
G |
A |
17: 57,529,303 (GRCm39) |
Q30* |
probably null |
Het |
Ccdc162 |
A |
G |
10: 41,445,894 (GRCm39) |
I426T |
probably damaging |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Cwc27 |
A |
C |
13: 104,932,942 (GRCm39) |
D253E |
probably benign |
Het |
Cyp1a1 |
T |
A |
9: 57,607,432 (GRCm39) |
V20D |
probably benign |
Het |
Dmbt1 |
T |
A |
7: 130,696,464 (GRCm39) |
Y892* |
probably null |
Het |
Dnhd1 |
T |
A |
7: 105,369,438 (GRCm39) |
Y4354N |
probably benign |
Het |
Dync2li1 |
T |
A |
17: 84,952,175 (GRCm39) |
I202K |
possibly damaging |
Het |
Dyrk1a |
T |
A |
16: 94,485,991 (GRCm39) |
V446E |
probably benign |
Het |
Efcab3 |
C |
A |
11: 104,629,121 (GRCm39) |
T933K |
probably benign |
Het |
Fam186b |
T |
C |
15: 99,178,058 (GRCm39) |
I423V |
probably benign |
Het |
Gm5108 |
T |
C |
5: 68,132,475 (GRCm39) |
|
probably benign |
Het |
Htr3a |
A |
G |
9: 48,817,643 (GRCm39) |
V110A |
probably benign |
Het |
Itsn2 |
C |
A |
12: 4,757,005 (GRCm39) |
S1365Y |
possibly damaging |
Het |
Mtrex |
A |
T |
13: 113,019,702 (GRCm39) |
Y803N |
probably benign |
Het |
Nlrp14 |
T |
C |
7: 106,797,031 (GRCm39) |
V307A |
probably benign |
Het |
Nt5c2 |
A |
G |
19: 46,878,506 (GRCm39) |
|
probably null |
Het |
Obox2 |
C |
T |
7: 15,130,935 (GRCm39) |
P56S |
possibly damaging |
Het |
Olfml2b |
A |
G |
1: 170,477,319 (GRCm39) |
I151M |
possibly damaging |
Het |
Oog3 |
T |
A |
4: 143,885,884 (GRCm39) |
D238V |
probably benign |
Het |
Pde11a |
T |
C |
2: 75,889,405 (GRCm39) |
T690A |
probably benign |
Het |
Ppa1 |
A |
G |
10: 61,508,163 (GRCm39) |
|
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,655,351 (GRCm39) |
E306G |
probably damaging |
Het |
Ppic |
G |
A |
18: 53,544,119 (GRCm39) |
R89C |
probably damaging |
Het |
Ptprk |
T |
G |
10: 28,427,713 (GRCm39) |
I764S |
probably damaging |
Het |
Ripk2 |
T |
C |
4: 16,132,774 (GRCm39) |
|
probably benign |
Het |
Rnf123 |
A |
G |
9: 107,940,735 (GRCm39) |
M702T |
probably benign |
Het |
Slco1b2 |
T |
C |
6: 141,615,100 (GRCm39) |
I335T |
probably damaging |
Het |
Ssbp1 |
T |
A |
6: 40,453,743 (GRCm39) |
D96E |
probably benign |
Het |
Tpp2 |
T |
A |
1: 44,022,346 (GRCm39) |
S915T |
possibly damaging |
Het |
Unc5c |
A |
T |
3: 141,383,892 (GRCm39) |
Q90L |
probably damaging |
Het |
Vmn2r57 |
A |
G |
7: 41,049,619 (GRCm39) |
I710T |
possibly damaging |
Het |
Wdr90 |
G |
A |
17: 26,070,429 (GRCm39) |
P1104L |
probably damaging |
Het |
|
Other mutations in Lrrc46 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01757:Lrrc46
|
APN |
11 |
96,926,701 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01933:Lrrc46
|
APN |
11 |
96,926,354 (GRCm39) |
missense |
probably benign |
0.21 |
R0054:Lrrc46
|
UTSW |
11 |
96,929,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R0054:Lrrc46
|
UTSW |
11 |
96,929,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R0082:Lrrc46
|
UTSW |
11 |
96,931,903 (GRCm39) |
unclassified |
probably benign |
|
R1104:Lrrc46
|
UTSW |
11 |
96,926,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R1756:Lrrc46
|
UTSW |
11 |
96,925,556 (GRCm39) |
unclassified |
probably benign |
|
R2885:Lrrc46
|
UTSW |
11 |
96,925,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R2932:Lrrc46
|
UTSW |
11 |
96,931,935 (GRCm39) |
unclassified |
probably benign |
|
R4361:Lrrc46
|
UTSW |
11 |
96,925,496 (GRCm39) |
unclassified |
probably benign |
|
R4678:Lrrc46
|
UTSW |
11 |
96,925,719 (GRCm39) |
missense |
probably benign |
0.37 |
R4989:Lrrc46
|
UTSW |
11 |
96,931,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R5150:Lrrc46
|
UTSW |
11 |
96,926,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R6390:Lrrc46
|
UTSW |
11 |
96,931,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R6467:Lrrc46
|
UTSW |
11 |
96,927,305 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6860:Lrrc46
|
UTSW |
11 |
96,926,371 (GRCm39) |
missense |
probably benign |
0.05 |
R7373:Lrrc46
|
UTSW |
11 |
96,929,706 (GRCm39) |
missense |
probably benign |
0.17 |
R8188:Lrrc46
|
UTSW |
11 |
96,931,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R9723:Lrrc46
|
UTSW |
11 |
96,925,773 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGGGAATGTTCTCCTGGCC -3'
(R):5'- GTCACGAAGCTGTCCTTGAC -3'
Sequencing Primer
(F):5'- GGGAATGTTCTCCTGGCCAAAAC -3'
(R):5'- GAAGCTGTCCTTGACATCTCAAAG -3'
|
Posted On |
2014-11-11 |