Incidental Mutation 'R6390:Lrrc46'
| ID |
515733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc46
|
| Ensembl Gene |
ENSMUSG00000020878 |
| Gene Name |
leucine rich repeat containing 46 |
| Synonyms |
1700006D24Rik |
| MMRRC Submission |
044539-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6390 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
96925428-96932195 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96931757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 22
(T22A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001485]
[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 damaging
Transcript: ENSMUST00000021251
AA Change: T22A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021251
Gene: ENSMUSG00000020878
AA Change: T22A
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg9a |
G |
T |
1: 75,164,625 (GRCm39) |
P113Q |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,407,176 (GRCm39) |
D1073G |
probably benign |
Het |
| Cd8a |
A |
G |
6: 71,350,913 (GRCm39) |
Y126C |
probably damaging |
Het |
| Cdca8 |
A |
G |
4: 124,830,168 (GRCm39) |
M68T |
probably damaging |
Het |
| Cyp2d26 |
G |
A |
15: 82,676,825 (GRCm39) |
P174S |
possibly damaging |
Het |
| Dnai3 |
A |
G |
3: 145,801,143 (GRCm39) |
L105P |
probably damaging |
Het |
| Esco1 |
T |
G |
18: 10,567,528 (GRCm39) |
N311H |
probably damaging |
Het |
| Evx1 |
A |
G |
6: 52,292,842 (GRCm39) |
M183V |
probably benign |
Het |
| Fam111a |
T |
G |
19: 12,565,524 (GRCm39) |
Y424* |
probably null |
Het |
| Fat4 |
T |
C |
3: 39,034,529 (GRCm39) |
I2727T |
probably damaging |
Het |
| Ggt6 |
T |
A |
11: 72,327,437 (GRCm39) |
Y107N |
possibly damaging |
Het |
| Habp2 |
G |
C |
19: 56,295,255 (GRCm39) |
E49Q |
possibly damaging |
Het |
| Hibadh |
A |
C |
6: 52,533,474 (GRCm39) |
L214R |
probably damaging |
Het |
| Ift57 |
T |
G |
16: 49,582,836 (GRCm39) |
|
probably null |
Het |
| Irak4 |
T |
C |
15: 94,459,367 (GRCm39) |
S328P |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,216,834 (GRCm39) |
Y44* |
probably null |
Het |
| Muc2 |
G |
T |
7: 141,305,883 (GRCm39) |
V230L |
probably damaging |
Het |
| Ncan |
T |
C |
8: 70,567,899 (GRCm39) |
D71G |
probably benign |
Het |
| Nsd2 |
T |
C |
5: 34,038,525 (GRCm39) |
S779P |
probably damaging |
Het |
| Rps6ka5 |
G |
T |
12: 100,537,251 (GRCm39) |
T493K |
probably damaging |
Het |
| Slc6a21 |
A |
T |
7: 44,936,426 (GRCm39) |
M135L |
probably benign |
Het |
| Sprtn |
A |
G |
8: 125,629,958 (GRCm39) |
N417S |
probably benign |
Het |
| Trim61 |
T |
A |
8: 65,466,842 (GRCm39) |
M140L |
probably benign |
Het |
| Vars1 |
C |
A |
17: 35,234,615 (GRCm39) |
A1148E |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,824,230 (GRCm39) |
V495A |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,679,088 (GRCm39) |
V712E |
possibly damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,826,051 (GRCm39) |
D1200G |
probably damaging |
Het |
| Zbtb6 |
A |
T |
2: 37,318,690 (GRCm39) |
S413T |
probably benign |
Het |
| Zp2 |
G |
T |
7: 119,740,453 (GRCm39) |
N170K |
probably benign |
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 |
|
|
R2394:Lrrc46
|
UTSW |
11 |
96,929,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CCAAGGCAGCTGAGGATGTATG -3'
(R):5'- TTTTAGATCATGCCAGGAGACG -3'
Sequencing Primer
(F):5'- TAATCCCAGCACTTGTGAGG -3'
(R):5'- TCATGCCAGGAGACGAGCAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation