Incidental Mutation 'R0588:Lrrc69'
| ID |
55833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc69
|
| Ensembl Gene |
ENSMUSG00000023151 |
| Gene Name |
leucine rich repeat containing 69 |
| Synonyms |
1700034K16Rik |
| MMRRC Submission |
038778-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R0588 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
14623620-14796060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14704001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 273
(I273T)
|
| 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: I273T
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000023917
Gene: ENSMUSG00000023151
AA Change: I273T
| 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: I273T
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103911
Gene: ENSMUSG00000023151
AA Change: I273T
| 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 |
noncoding transcript
Transcript: ENSMUST00000143565
|
| Meta Mutation Damage Score |
0.7109 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
100% (25/25) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
A |
6: 142,548,787 (GRCm39) |
K1299* |
probably null |
Het |
| Adamts2 |
G |
T |
11: 50,667,491 (GRCm39) |
W476C |
probably damaging |
Het |
| Ankrd13c |
T |
C |
3: 157,711,454 (GRCm39) |
F525L |
probably damaging |
Het |
| Arg1 |
T |
C |
10: 24,796,522 (GRCm39) |
S102G |
probably damaging |
Het |
| Atp2a3 |
A |
T |
11: 72,863,850 (GRCm39) |
D192V |
possibly damaging |
Het |
| Cabin1 |
T |
C |
10: 75,581,171 (GRCm39) |
E385G |
possibly damaging |
Het |
| Cacna1h |
A |
T |
17: 25,606,538 (GRCm39) |
D1020E |
probably damaging |
Het |
| Calcb |
C |
T |
7: 114,319,361 (GRCm39) |
H48Y |
probably benign |
Het |
| Crtc1 |
A |
G |
8: 70,892,199 (GRCm39) |
S4P |
probably damaging |
Het |
| Dcaf6 |
A |
G |
1: 165,247,792 (GRCm39) |
I147T |
possibly damaging |
Het |
| Ears2 |
T |
C |
7: 121,643,514 (GRCm39) |
|
probably benign |
Het |
| Fas |
T |
C |
19: 34,304,540 (GRCm39) |
V267A |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,584,746 (GRCm39) |
L84P |
probably damaging |
Het |
| Fyb1 |
T |
C |
15: 6,609,940 (GRCm39) |
V171A |
probably benign |
Het |
| Gdap2 |
T |
A |
3: 100,077,317 (GRCm39) |
M1K |
probably null |
Het |
| Gprc5b |
T |
A |
7: 118,583,218 (GRCm39) |
Q217L |
probably benign |
Het |
| Map4k4 |
C |
A |
1: 40,044,024 (GRCm39) |
Q556K |
possibly damaging |
Het |
| Npy6r |
T |
A |
18: 44,408,888 (GRCm39) |
V103E |
possibly damaging |
Het |
| Or5b24 |
A |
G |
19: 12,912,111 (GRCm39) |
Y3C |
probably benign |
Het |
| Shisa9 |
A |
G |
16: 12,085,638 (GRCm39) |
T416A |
probably damaging |
Het |
| Slc26a9 |
C |
A |
1: 131,681,749 (GRCm39) |
|
probably benign |
Het |
| Sostdc1 |
G |
T |
12: 36,367,020 (GRCm39) |
|
probably benign |
Het |
| St18 |
T |
A |
1: 6,887,962 (GRCm39) |
F510L |
probably damaging |
Het |
| Zdhhc7 |
A |
G |
8: 120,810,106 (GRCm39) |
|
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 |
|
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 |
|
R3691:Lrrc69
|
UTSW |
4 |
14,795,980 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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'- CAAAAGGTCTGTGCTGCCATGC -3'
(R):5'- TGGCCCCTGCTTATTGTACTGAGAG -3'
Sequencing Primer
(F):5'- ATCCTATCAACGAATCTATCCTTGG -3'
(R):5'- GCCACATGCAAGTCATGTATAAGTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation