Incidental Mutation 'R5882:Lrrc69'
| ID |
490499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc69
|
| Ensembl Gene |
ENSMUSG00000023151 |
| Gene Name |
leucine rich repeat containing 69 |
| Synonyms |
1700034K16Rik |
| MMRRC Submission |
043236-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R5882 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
14623620-14796060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14708690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 218
(F218S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023917]
[ENSMUST00000108276]
|
| AlphaFold |
Q9D9Q0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023917
AA Change: F218S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023917
Gene: ENSMUSG00000023151
AA Change: F218S
| 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 |
probably damaging
Transcript: ENSMUST00000108276
AA Change: F218S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103911
Gene: ENSMUSG00000023151
AA Change: F218S
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 96.5%
- 20x: 86.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7e |
T |
A |
15: 77,602,447 (GRCm39) |
H348Q |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,350,645 (GRCm39) |
E400V |
probably damaging |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,839 (GRCm39) |
K176N |
probably benign |
Het |
| Dcaf4 |
T |
C |
12: 83,586,203 (GRCm39) |
V377A |
probably damaging |
Het |
| Dennd1a |
A |
G |
2: 37,851,675 (GRCm39) |
L71P |
probably damaging |
Het |
| Dmbx1 |
G |
T |
4: 115,777,498 (GRCm39) |
R117S |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,903,453 (GRCm39) |
V382A |
probably benign |
Het |
| Kars1 |
G |
A |
8: 112,730,057 (GRCm39) |
R107* |
probably null |
Het |
| Kif16b |
C |
T |
2: 142,549,178 (GRCm39) |
|
probably null |
Het |
| Myo15b |
A |
G |
11: 115,760,422 (GRCm39) |
Y1158C |
probably damaging |
Het |
| Myom1 |
G |
C |
17: 71,417,717 (GRCm39) |
A1307P |
probably damaging |
Het |
| Nacad |
C |
T |
11: 6,548,568 (GRCm39) |
V1389I |
possibly damaging |
Het |
| Nit2 |
T |
C |
16: 56,979,829 (GRCm39) |
D132G |
probably benign |
Het |
| Nln |
G |
T |
13: 104,196,006 (GRCm39) |
D60E |
probably benign |
Het |
| Oas1f |
G |
A |
5: 120,986,316 (GRCm39) |
E90K |
probably damaging |
Het |
| Obox3 |
A |
G |
7: 15,360,893 (GRCm39) |
V82A |
probably benign |
Het |
| Or4k35 |
A |
T |
2: 111,100,484 (GRCm39) |
V76E |
probably damaging |
Het |
| Or8b12 |
C |
T |
9: 37,657,928 (GRCm39) |
T166I |
probably benign |
Het |
| Pcdhb1 |
A |
T |
18: 37,400,230 (GRCm39) |
Q727L |
probably benign |
Het |
| Phactr1 |
G |
T |
13: 42,863,327 (GRCm39) |
|
probably null |
Het |
| Prkg1 |
A |
T |
19: 31,563,097 (GRCm39) |
N116K |
probably damaging |
Het |
| Scnn1g |
A |
T |
7: 121,366,581 (GRCm39) |
S593C |
possibly damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,494 (GRCm39) |
N85S |
probably benign |
Het |
| Spock3 |
A |
G |
8: 63,596,965 (GRCm39) |
T93A |
probably benign |
Het |
| St7 |
T |
C |
6: 17,846,248 (GRCm39) |
L121P |
probably damaging |
Het |
| Stoml2 |
G |
C |
4: 43,031,003 (GRCm39) |
R57G |
probably damaging |
Het |
| Tdrd1 |
C |
T |
19: 56,837,371 (GRCm39) |
R532C |
probably damaging |
Het |
| Tmc5 |
A |
G |
7: 118,254,142 (GRCm39) |
N660S |
probably damaging |
Het |
| Tmem38a |
A |
G |
8: 73,339,731 (GRCm39) |
H233R |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,269,777 (GRCm39) |
V304A |
possibly damaging |
Het |
| Ush1g |
C |
A |
11: 115,209,368 (GRCm39) |
M275I |
probably damaging |
Het |
| Zfp882 |
A |
T |
8: 72,667,303 (GRCm39) |
|
probably null |
Het |
| Zim1 |
A |
T |
7: 6,685,737 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- CAGGTTACTCTGAATTCTGTGAGC -3'
(R):5'- GACTGTAAACATGTTTCCTTGGC -3'
Sequencing Primer
(F):5'- GAACCAGTGTCACATTTACAGAG -3'
(R):5'- TGTAAACATGTTTCCTTGGCTATTC -3'
|
| Posted On |
2017-10-20 |
Incidental Mutation