Incidental Mutation 'R5855:Lrrc27'
| ID |
454870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc27
|
| Ensembl Gene |
ENSMUSG00000015980 |
| Gene Name |
leucine rich repeat containing 27 |
| Synonyms |
1700071K18Rik, 2310044E02Rik |
| MMRRC Submission |
043229-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R5855 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
139212988-139242979 bp(+) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 139218335 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016124]
[ENSMUST00000106104]
[ENSMUST00000135509]
[ENSMUST00000156768]
|
| AlphaFold |
Q80YS5 |
| Predicted Effect |
silent
Transcript: ENSMUST00000016124
|
| SMART Domains |
Protein: ENSMUSP00000016124
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 |
|
coiled coil region
|
336 |
370 |
N/A |
INTRINSIC |
|
coiled coil region
|
463 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130248
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000135509
AA Change: S163P
|
| SMART Domains |
Protein: ENSMUSP00000116827
Gene: ENSMUSG00000015980
AA Change: S163P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156768
|
| SMART Domains |
Protein: ENSMUSP00000116624
Gene: ENSMUSG00000015980
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
LRR_TYP
|
75 |
98 |
1.03e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
T |
G |
7: 131,424,599 (GRCm38) |
L57R |
probably damaging |
Het |
| Bmpr1b |
G |
A |
3: 141,871,385 (GRCm38) |
T55M |
possibly damaging |
Het |
| Cep350 |
G |
A |
1: 155,953,762 (GRCm38) |
T132I |
probably benign |
Het |
| Cops4 |
A |
T |
5: 100,547,414 (GRCm38) |
M400L |
probably benign |
Het |
| Cul1 |
G |
A |
6: 47,523,213 (GRCm38) |
D653N |
probably benign |
Het |
| Cyp3a13 |
C |
G |
5: 137,919,056 (GRCm38) |
L36F |
probably damaging |
Het |
| Dcaf10 |
T |
C |
4: 45,342,558 (GRCm38) |
F131L |
probably benign |
Het |
| Dgkh |
T |
C |
14: 78,624,504 (GRCm38) |
|
probably null |
Het |
| Igll1 |
C |
T |
16: 16,861,057 (GRCm38) |
V130M |
probably damaging |
Het |
| Kif2c |
C |
T |
4: 117,182,542 (GRCm38) |
|
probably benign |
Het |
| Klra7 |
T |
C |
6: 130,218,958 (GRCm38) |
D262G |
possibly damaging |
Het |
| Maf |
A |
G |
8: 115,705,792 (GRCm38) |
S358P |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,303,674 (GRCm38) |
D1419G |
possibly damaging |
Het |
| Map3k1 |
G |
A |
13: 111,755,979 (GRCm38) |
A914V |
probably benign |
Het |
| Naa25 |
T |
G |
5: 121,423,692 (GRCm38) |
L436R |
possibly damaging |
Het |
| Ndc1 |
T |
C |
4: 107,383,707 (GRCm38) |
I294T |
probably damaging |
Het |
| Nek1 |
A |
C |
8: 61,016,272 (GRCm38) |
D121A |
probably damaging |
Het |
| Nfil3 |
C |
T |
13: 52,968,710 (GRCm38) |
G53R |
probably benign |
Het |
| Olfr63 |
T |
C |
17: 33,269,336 (GRCm38) |
V204A |
possibly damaging |
Het |
| Parp14 |
A |
T |
16: 35,840,927 (GRCm38) |
Y1550* |
probably null |
Het |
| Patl1 |
A |
G |
19: 11,921,516 (GRCm38) |
I192V |
probably damaging |
Het |
| Pax3 |
G |
A |
1: 78,121,651 (GRCm38) |
T367I |
probably damaging |
Het |
| Pla2g4a |
C |
T |
1: 149,880,063 (GRCm38) |
V208M |
probably damaging |
Het |
| Prdm10 |
A |
T |
9: 31,337,323 (GRCm38) |
K347M |
probably damaging |
Het |
| Prkd1 |
A |
T |
12: 50,392,916 (GRCm38) |
M376K |
probably benign |
Het |
| Prkg1 |
C |
T |
19: 30,894,694 (GRCm38) |
V219I |
possibly damaging |
Het |
| Rictor |
G |
A |
15: 6,794,006 (GRCm38) |
E1555K |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,464,730 (GRCm38) |
I1550V |
possibly damaging |
Het |
| Skint8 |
C |
A |
4: 111,950,193 (GRCm38) |
L359M |
probably damaging |
Het |
| Sox4 |
T |
C |
13: 28,952,996 (GRCm38) |
E9G |
probably damaging |
Het |
| Spon1 |
T |
A |
7: 114,029,072 (GRCm38) |
D354E |
probably damaging |
Het |
| Stat2 |
T |
A |
10: 128,283,494 (GRCm38) |
L450H |
probably damaging |
Het |
| Tek |
T |
A |
4: 94,853,553 (GRCm38) |
M849K |
probably damaging |
Het |
| Tmem63c |
G |
A |
12: 87,075,726 (GRCm38) |
D433N |
probably damaging |
Het |
| Tnpo3 |
G |
A |
6: 29,589,033 (GRCm38) |
T106I |
probably damaging |
Het |
| Tns1 |
G |
T |
1: 73,918,033 (GRCm38) |
A1674D |
possibly damaging |
Het |
| Trim8 |
T |
C |
19: 46,515,410 (GRCm38) |
V467A |
possibly damaging |
Het |
| Trmo |
T |
A |
4: 46,382,568 (GRCm38) |
H183L |
probably benign |
Het |
| Trpm1 |
C |
A |
7: 64,268,962 (GRCm38) |
C683* |
probably null |
Het |
| Vsig10 |
T |
G |
5: 117,338,270 (GRCm38) |
L263R |
probably damaging |
Het |
| Zfp874a |
A |
T |
13: 67,442,693 (GRCm38) |
Y291N |
probably benign |
Het |
|
| Other mutations in Lrrc27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01668:Lrrc27
|
APN |
7 |
139,227,911 (GRCm38) |
intron |
probably benign |
|
|
IGL02095:Lrrc27
|
APN |
7 |
139,230,253 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02489:Lrrc27
|
APN |
7 |
139,226,061 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03080:Lrrc27
|
APN |
7 |
139,230,237 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0372:Lrrc27
|
UTSW |
7 |
139,226,187 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1466:Lrrc27
|
UTSW |
7 |
139,230,308 (GRCm38) |
unclassified |
probably benign |
|
|
R2401:Lrrc27
|
UTSW |
7 |
139,223,613 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2876:Lrrc27
|
UTSW |
7 |
139,228,684 (GRCm38) |
intron |
probably benign |
|
|
R3113:Lrrc27
|
UTSW |
7 |
139,218,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4214:Lrrc27
|
UTSW |
7 |
139,223,693 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4707:Lrrc27
|
UTSW |
7 |
139,242,698 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4784:Lrrc27
|
UTSW |
7 |
139,242,698 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5070:Lrrc27
|
UTSW |
7 |
139,214,799 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6408:Lrrc27
|
UTSW |
7 |
139,218,268 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6993:Lrrc27
|
UTSW |
7 |
139,242,624 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7332:Lrrc27
|
UTSW |
7 |
139,242,745 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7350:Lrrc27
|
UTSW |
7 |
139,226,106 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7460:Lrrc27
|
UTSW |
7 |
139,223,658 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7502:Lrrc27
|
UTSW |
7 |
139,214,832 (GRCm38) |
missense |
probably benign |
|
|
R8020:Lrrc27
|
UTSW |
7 |
139,236,877 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8071:Lrrc27
|
UTSW |
7 |
139,236,986 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8518:Lrrc27
|
UTSW |
7 |
139,228,774 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8728:Lrrc27
|
UTSW |
7 |
139,242,639 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8734:Lrrc27
|
UTSW |
7 |
139,216,599 (GRCm38) |
unclassified |
probably benign |
|
|
R9141:Lrrc27
|
UTSW |
7 |
139,227,945 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9355:Lrrc27
|
UTSW |
7 |
139,242,732 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9387:Lrrc27
|
UTSW |
7 |
139,227,921 (GRCm38) |
nonsense |
probably null |
|
|
R9627:Lrrc27
|
UTSW |
7 |
139,228,666 (GRCm38) |
intron |
probably benign |
|
|
R9742:Lrrc27
|
UTSW |
7 |
139,226,313 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9779:Lrrc27
|
UTSW |
7 |
139,236,970 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9800:Lrrc27
|
UTSW |
7 |
139,227,997 (GRCm38) |
missense |
probably benign |
0.16 |
|
RF018:Lrrc27
|
UTSW |
7 |
139,226,100 (GRCm38) |
missense |
probably benign |
0.03 |
|
X0065:Lrrc27
|
UTSW |
7 |
139,230,246 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0065:Lrrc27
|
UTSW |
7 |
139,230,245 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1176:Lrrc27
|
UTSW |
7 |
139,242,720 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGAGTGTAGCCAGAGAG -3'
(R):5'- CTGCACTTTGAACCATCTGGAC -3'
Sequencing Primer
(F):5'- AATCTCTCTGGTTCTTGAGTCCG -3'
(R):5'- GGACTTTTTAATTCTGAGACGGCAAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation