Incidental Mutation 'IGL02489:Lrrc27'
| ID |
295556 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc27
|
| Ensembl Gene |
ENSMUSG00000015980 |
| Gene Name |
leucine rich repeat containing 27 |
| Synonyms |
2310044E02Rik, 1700071K18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
IGL02489
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
138792904-138822895 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 138805977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 214
(R214L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016124]
[ENSMUST00000106104]
[ENSMUST00000135509]
|
| AlphaFold |
Q80YS5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016124
AA Change: R214L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000016124
Gene: ENSMUSG00000015980
AA Change: R214L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
LRR_TYP
|
75 |
98 |
1.03e-2 |
SMART |
|
LRR_TYP
|
99 |
122 |
3.69e-4 |
SMART |
|
LRR
|
123 |
145 |
7.38e1 |
SMART |
|
low complexity region
|
271 |
283 |
N/A |
INTRINSIC |
|
coiled coil region
|
336 |
370 |
N/A |
INTRINSIC |
|
coiled coil region
|
463 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106104
AA Change: R214L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000101710
Gene: ENSMUSG00000015980
AA Change: R214L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
LRR_TYP
|
75 |
98 |
1.03e-2 |
SMART |
|
LRR_TYP
|
99 |
122 |
3.69e-4 |
SMART |
|
LRR
|
123 |
145 |
7.38e1 |
SMART |
|
low complexity region
|
271 |
283 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130248
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135509
|
| SMART Domains |
Protein: ENSMUSP00000116827
Gene: ENSMUSG00000015980
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,780,847 (GRCm39) |
|
probably benign |
Het |
| Aldh6a1 |
T |
C |
12: 84,480,746 (GRCm39) |
T430A |
possibly damaging |
Het |
| Ankrd6 |
T |
C |
4: 32,810,298 (GRCm39) |
D426G |
probably damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,639,540 (GRCm39) |
S280P |
possibly damaging |
Het |
| Bicd1 |
T |
C |
6: 149,414,535 (GRCm39) |
L416P |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cenpp |
T |
C |
13: 49,803,594 (GRCm39) |
|
probably null |
Het |
| Col5a2 |
T |
C |
1: 45,431,971 (GRCm39) |
|
probably null |
Het |
| Ctsa |
A |
G |
2: 164,680,565 (GRCm39) |
Y402C |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,686,481 (GRCm39) |
V223A |
possibly damaging |
Het |
| Dnajb3 |
G |
T |
1: 88,133,032 (GRCm39) |
N123K |
probably benign |
Het |
| Fhad1 |
G |
T |
4: 141,684,931 (GRCm39) |
N469K |
probably damaging |
Het |
| Fmo3 |
G |
T |
1: 162,781,856 (GRCm39) |
T499K |
possibly damaging |
Het |
| Gm10100 |
G |
A |
10: 77,562,645 (GRCm39) |
C109Y |
probably benign |
Het |
| Mc5r |
T |
A |
18: 68,472,597 (GRCm39) |
C319S |
probably damaging |
Het |
| Nwd2 |
A |
C |
5: 63,962,570 (GRCm39) |
Y718S |
probably damaging |
Het |
| Or8h7 |
T |
G |
2: 86,721,339 (GRCm39) |
Y60S |
probably damaging |
Het |
| Ppa1 |
T |
A |
10: 61,501,223 (GRCm39) |
D163E |
probably damaging |
Het |
| Ptprk |
G |
T |
10: 28,259,468 (GRCm39) |
G303W |
probably damaging |
Het |
| Rnf182 |
T |
C |
13: 43,821,779 (GRCm39) |
L110P |
probably damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,045,074 (GRCm39) |
F659S |
probably damaging |
Het |
| Slc5a3 |
T |
A |
16: 91,874,593 (GRCm39) |
Y217N |
possibly damaging |
Het |
| Ttc41 |
G |
T |
10: 86,596,778 (GRCm39) |
E1008* |
probably null |
Het |
| Unc80 |
T |
C |
1: 66,564,860 (GRCm39) |
M849T |
probably benign |
Het |
| Vmn2r76 |
A |
T |
7: 85,878,071 (GRCm39) |
I442N |
probably benign |
Het |
|
| Other mutations in Lrrc27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01668:Lrrc27
|
APN |
7 |
138,807,827 (GRCm39) |
intron |
probably benign |
|
|
IGL02095:Lrrc27
|
APN |
7 |
138,810,169 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03080:Lrrc27
|
APN |
7 |
138,810,153 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0372:Lrrc27
|
UTSW |
7 |
138,806,103 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1466:Lrrc27
|
UTSW |
7 |
138,810,224 (GRCm39) |
unclassified |
probably benign |
|
|
R2401:Lrrc27
|
UTSW |
7 |
138,803,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2876:Lrrc27
|
UTSW |
7 |
138,808,600 (GRCm39) |
intron |
probably benign |
|
|
R3113:Lrrc27
|
UTSW |
7 |
138,798,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4214:Lrrc27
|
UTSW |
7 |
138,803,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Lrrc27
|
UTSW |
7 |
138,822,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4784:Lrrc27
|
UTSW |
7 |
138,822,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5070:Lrrc27
|
UTSW |
7 |
138,794,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5855:Lrrc27
|
UTSW |
7 |
138,798,251 (GRCm39) |
unclassified |
probably benign |
|
|
R6408:Lrrc27
|
UTSW |
7 |
138,798,184 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6993:Lrrc27
|
UTSW |
7 |
138,822,540 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7332:Lrrc27
|
UTSW |
7 |
138,822,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Lrrc27
|
UTSW |
7 |
138,806,022 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7460:Lrrc27
|
UTSW |
7 |
138,803,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7502:Lrrc27
|
UTSW |
7 |
138,794,748 (GRCm39) |
missense |
probably benign |
|
|
R8020:Lrrc27
|
UTSW |
7 |
138,816,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8071:Lrrc27
|
UTSW |
7 |
138,816,902 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8518:Lrrc27
|
UTSW |
7 |
138,808,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8728:Lrrc27
|
UTSW |
7 |
138,822,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8734:Lrrc27
|
UTSW |
7 |
138,796,515 (GRCm39) |
unclassified |
probably benign |
|
|
R9141:Lrrc27
|
UTSW |
7 |
138,807,861 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9355:Lrrc27
|
UTSW |
7 |
138,822,648 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9387:Lrrc27
|
UTSW |
7 |
138,807,837 (GRCm39) |
nonsense |
probably null |
|
|
R9627:Lrrc27
|
UTSW |
7 |
138,808,582 (GRCm39) |
intron |
probably benign |
|
|
R9742:Lrrc27
|
UTSW |
7 |
138,806,229 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9779:Lrrc27
|
UTSW |
7 |
138,816,886 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9800:Lrrc27
|
UTSW |
7 |
138,807,913 (GRCm39) |
missense |
probably benign |
0.16 |
|
RF018:Lrrc27
|
UTSW |
7 |
138,806,016 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0065:Lrrc27
|
UTSW |
7 |
138,810,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0065:Lrrc27
|
UTSW |
7 |
138,810,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Lrrc27
|
UTSW |
7 |
138,822,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation