Incidental Mutation 'R9141:Lrrc27'
| ID |
694344 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc27
|
| Ensembl Gene |
ENSMUSG00000015980 |
| Gene Name |
leucine rich repeat containing 27 |
| Synonyms |
2310044E02Rik, 1700071K18Rik |
| MMRRC Submission |
068933-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R9141 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
138792904-138822895 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138807861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 323
(I323V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016124]
[ENSMUST00000106104]
|
| AlphaFold |
Q80YS5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016124
AA Change: I323V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000016124
Gene: ENSMUSG00000015980
AA Change: I323V
| 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
|
| SMART Domains |
Protein: ENSMUSP00000101710
Gene: ENSMUSG00000015980
| 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 |
|
| Meta Mutation Damage Score |
0.0887 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,851,264 (GRCm39) |
D2159G |
possibly damaging |
Het |
| Adamts8 |
A |
G |
9: 30,864,721 (GRCm39) |
Y404C |
possibly damaging |
Het |
| Arhgef16 |
A |
C |
4: 154,366,300 (GRCm39) |
L489R |
probably damaging |
Het |
| BC034090 |
C |
T |
1: 155,108,474 (GRCm39) |
|
probably benign |
Het |
| Cdc25b |
T |
C |
2: 131,033,857 (GRCm39) |
|
probably null |
Het |
| Cert1 |
T |
A |
13: 96,753,568 (GRCm39) |
F393I |
probably damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
A |
T |
6: 18,429,138 (GRCm39) |
C163* |
probably null |
Het |
| Dclre1a |
A |
T |
19: 56,533,542 (GRCm39) |
F351I |
probably damaging |
Het |
| Ddx46 |
T |
A |
13: 55,823,892 (GRCm39) |
Y933N |
probably damaging |
Het |
| Dnai4 |
A |
T |
4: 102,906,743 (GRCm39) |
I690N |
probably damaging |
Het |
| Eif2b3 |
C |
A |
4: 116,923,578 (GRCm39) |
Y264* |
probably null |
Het |
| Esco1 |
T |
C |
18: 10,594,731 (GRCm39) |
K185R |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,703,092 (GRCm39) |
|
probably null |
Het |
| Fmo2 |
T |
C |
1: 162,709,623 (GRCm39) |
M255V |
probably null |
Het |
| Hdac7 |
T |
C |
15: 97,697,649 (GRCm39) |
T677A |
probably benign |
Het |
| Iqcn |
C |
T |
8: 71,162,421 (GRCm39) |
T538M |
probably benign |
Het |
| Krt84 |
C |
A |
15: 101,440,974 (GRCm39) |
V73F |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,123,196 (GRCm39) |
Y665H |
probably benign |
Het |
| Ltbp1 |
C |
T |
17: 75,598,309 (GRCm39) |
R597W |
possibly damaging |
Het |
| Nfib |
T |
G |
4: 82,416,529 (GRCm39) |
T170P |
probably damaging |
Het |
| Nufip1 |
A |
T |
14: 76,370,413 (GRCm39) |
E371D |
possibly damaging |
Het |
| Optn |
T |
A |
2: 5,059,485 (GRCm39) |
E11V |
possibly damaging |
Het |
| Or4d2b |
A |
T |
11: 87,780,056 (GRCm39) |
L222Q |
probably damaging |
Het |
| Pdha2 |
T |
C |
3: 140,917,211 (GRCm39) |
E99G |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Prox1 |
T |
C |
1: 189,892,511 (GRCm39) |
|
probably null |
Het |
| Ptbp1 |
T |
A |
10: 79,694,897 (GRCm39) |
I75N |
probably damaging |
Het |
| R3hdm1 |
T |
C |
1: 128,164,212 (GRCm39) |
L1042P |
probably damaging |
Het |
| Ralgapb |
A |
T |
2: 158,262,811 (GRCm39) |
Q16H |
possibly damaging |
Het |
| Scmh1 |
T |
C |
4: 120,362,556 (GRCm39) |
V264A |
probably benign |
Het |
| Sec23a |
A |
G |
12: 59,053,890 (GRCm39) |
V36A |
probably benign |
Het |
| Serpina3a |
A |
G |
12: 104,087,649 (GRCm39) |
N191D |
probably benign |
Het |
| Slc10a7 |
T |
A |
8: 79,236,241 (GRCm39) |
M13K |
probably benign |
Het |
| Slco2a1 |
G |
T |
9: 102,945,254 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
C |
T |
17: 71,672,125 (GRCm39) |
S1643N |
probably benign |
Het |
| Smok2b |
G |
A |
17: 13,453,637 (GRCm39) |
|
probably null |
Het |
| Spata31h1 |
T |
A |
10: 82,126,610 (GRCm39) |
K2133N |
probably damaging |
Het |
| St6galnac6 |
T |
C |
2: 32,505,094 (GRCm39) |
I202T |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,704,911 (GRCm39) |
K1819R |
probably damaging |
Het |
| Strn3 |
T |
C |
12: 51,694,873 (GRCm39) |
T297A |
probably damaging |
Het |
| Sult1b1 |
T |
A |
5: 87,665,280 (GRCm39) |
E218V |
probably damaging |
Het |
| Urb2 |
T |
G |
8: 124,755,285 (GRCm39) |
L331V |
probably damaging |
Het |
| Vmn1r86 |
A |
T |
7: 12,836,789 (GRCm39) |
L29* |
probably null |
Het |
| Vmn2r52 |
G |
T |
7: 9,905,331 (GRCm39) |
Y169* |
probably null |
Het |
| Zfp592 |
A |
T |
7: 80,674,205 (GRCm39) |
T390S |
probably damaging |
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 |
|
IGL02489:Lrrc27
|
APN |
7 |
138,805,977 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAATATGCAGTGGACCCAC -3'
(R):5'- ACATGGTTGATCATGGGGAG -3'
Sequencing Primer
(F):5'- ACCAGGCCTGCTTTAAGC -3'
(R):5'- GAGGTCTCCCAATCCTGATG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation