Incidental Mutation 'R3691:Lrrc69'
| ID |
268770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc69
|
| Ensembl Gene |
ENSMUSG00000023151 |
| Gene Name |
leucine rich repeat containing 69 |
| Synonyms |
1700034K16Rik |
| MMRRC Submission |
040686-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R3691 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
14623620-14796060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14795980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 22
(N22K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023917]
[ENSMUST00000108276]
|
| AlphaFold |
Q9D9Q0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023917
AA Change: N22K
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023917
Gene: ENSMUSG00000023151
AA Change: N22K
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
36 |
58 |
4.57e0 |
SMART |
|
LRR
|
59 |
81 |
2.82e0 |
SMART |
|
LRR
|
82 |
105 |
7.55e-1 |
SMART |
|
LRR
|
106 |
128 |
7.79e0 |
SMART |
|
LRR
|
129 |
151 |
1.99e0 |
SMART |
|
LRR
|
152 |
174 |
5.72e0 |
SMART |
|
LRR
|
175 |
197 |
3.86e0 |
SMART |
|
LRR
|
198 |
220 |
8.24e0 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108276
AA Change: N22K
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103911
Gene: ENSMUSG00000023151
AA Change: N22K
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
36 |
58 |
4.57e0 |
SMART |
|
LRR
|
59 |
81 |
2.82e0 |
SMART |
|
LRR
|
82 |
105 |
7.55e-1 |
SMART |
|
LRR
|
106 |
128 |
7.79e0 |
SMART |
|
LRR
|
129 |
151 |
1.99e0 |
SMART |
|
LRR
|
152 |
174 |
5.72e0 |
SMART |
|
LRR
|
175 |
197 |
3.86e0 |
SMART |
|
LRR
|
198 |
220 |
8.24e0 |
SMART |
|
| Meta Mutation Damage Score |
0.1767 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
A |
G |
17: 14,108,671 (GRCm39) |
E1398G |
probably damaging |
Het |
| Avl9 |
C |
T |
6: 56,713,812 (GRCm39) |
H357Y |
probably benign |
Het |
| Best2 |
A |
G |
8: 85,737,883 (GRCm39) |
F171L |
probably benign |
Het |
| Btbd19 |
A |
T |
4: 116,977,789 (GRCm39) |
|
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,758,419 (GRCm39) |
S254P |
probably damaging |
Het |
| Cfap43 |
G |
A |
19: 47,885,512 (GRCm39) |
L368F |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
T |
C |
14: 75,991,878 (GRCm39) |
M1V |
probably null |
Het |
| Drosha |
G |
A |
15: 12,834,724 (GRCm39) |
R276H |
unknown |
Het |
| Efr3b |
T |
A |
12: 4,032,059 (GRCm39) |
D183V |
possibly damaging |
Het |
| Epha1 |
T |
C |
6: 42,338,064 (GRCm39) |
T794A |
probably damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,436,887 (GRCm39) |
V281I |
probably damaging |
Het |
| Flii |
T |
C |
11: 60,610,583 (GRCm39) |
Y571C |
probably benign |
Het |
| Flywch1 |
G |
A |
17: 23,982,186 (GRCm39) |
P6L |
probably damaging |
Het |
| Foxj3 |
T |
C |
4: 119,473,839 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,929,371 (GRCm39) |
T3925I |
probably benign |
Het |
| Gk5 |
T |
C |
9: 96,011,149 (GRCm39) |
|
probably null |
Het |
| Gm12588 |
T |
G |
11: 121,796,751 (GRCm39) |
Q366P |
possibly damaging |
Het |
| Gm3248 |
A |
G |
14: 5,943,068 (GRCm38) |
I161T |
probably damaging |
Het |
| Gzmg |
T |
A |
14: 56,395,134 (GRCm39) |
|
probably benign |
Het |
| Med13l |
A |
G |
5: 118,859,562 (GRCm39) |
R250G |
probably benign |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Mxi1 |
T |
C |
19: 53,358,062 (GRCm39) |
L73P |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Napb |
T |
C |
2: 148,544,977 (GRCm39) |
|
probably null |
Het |
| Nsun2 |
A |
G |
13: 69,760,456 (GRCm39) |
N45D |
probably damaging |
Het |
| Or10ag2 |
T |
C |
2: 87,248,514 (GRCm39) |
F39L |
probably benign |
Het |
| Oxct1 |
A |
G |
15: 4,076,999 (GRCm39) |
M111V |
probably benign |
Het |
| Pcnx4 |
A |
G |
12: 72,620,493 (GRCm39) |
D771G |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,668 (GRCm39) |
D27G |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,146,797 (GRCm39) |
F523S |
probably benign |
Het |
| Zan |
A |
G |
5: 137,418,281 (GRCm39) |
I2939T |
unknown |
Het |
| Zfc3h1 |
A |
G |
10: 115,256,595 (GRCm39) |
T1522A |
probably benign |
Het |
|
| Other mutations in Lrrc69 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01300:Lrrc69
|
APN |
4 |
14,773,663 (GRCm39) |
splice site |
probably benign |
|
|
IGL01886:Lrrc69
|
APN |
4 |
14,703,984 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03084:Lrrc69
|
APN |
4 |
14,708,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0588:Lrrc69
|
UTSW |
4 |
14,704,001 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1664:Lrrc69
|
UTSW |
4 |
14,775,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1956:Lrrc69
|
UTSW |
4 |
14,665,986 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1984:Lrrc69
|
UTSW |
4 |
14,708,669 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1985:Lrrc69
|
UTSW |
4 |
14,708,669 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1986:Lrrc69
|
UTSW |
4 |
14,708,669 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2229:Lrrc69
|
UTSW |
4 |
14,773,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5691:Lrrc69
|
UTSW |
4 |
14,769,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5882:Lrrc69
|
UTSW |
4 |
14,708,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6113:Lrrc69
|
UTSW |
4 |
14,708,673 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7228:Lrrc69
|
UTSW |
4 |
14,775,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7880:Lrrc69
|
UTSW |
4 |
14,703,946 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8047:Lrrc69
|
UTSW |
4 |
14,773,726 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8375:Lrrc69
|
UTSW |
4 |
14,795,994 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8547:Lrrc69
|
UTSW |
4 |
14,704,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9332:Lrrc69
|
UTSW |
4 |
14,774,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9484:Lrrc69
|
UTSW |
4 |
14,666,012 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTCACTGCTCCATCATC -3'
(R):5'- AACCTGCAGTGACTATTTCCC -3'
Sequencing Primer
(F):5'- ACTGCTCCATCATCACTTACGAC -3'
(R):5'- CTCCTAGCTTCATCATAATGGGGAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation