Incidental Mutation 'R5148:Lrrc40'
| ID |
395193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc40
|
| Ensembl Gene |
ENSMUSG00000063052 |
| Gene Name |
leucine rich repeat containing 40 |
| Synonyms |
2610040E16Rik |
| MMRRC Submission |
043262-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R5148 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
157742319-157772727 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 157760206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072080]
[ENSMUST00000150525]
[ENSMUST00000156597]
[ENSMUST00000200540]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000072080
|
| SMART Domains |
Protein: ENSMUSP00000071956
Gene: ENSMUSG00000063052
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
81 |
100 |
7.11e1 |
SMART |
|
LRR
|
104 |
126 |
6.13e-1 |
SMART |
|
LRR
|
127 |
149 |
1.51e0 |
SMART |
|
LRR_TYP
|
150 |
172 |
8.47e-4 |
SMART |
|
LRR
|
173 |
195 |
3.52e-1 |
SMART |
|
LRR_TYP
|
196 |
219 |
2.91e-2 |
SMART |
|
LRR
|
242 |
261 |
9.15e0 |
SMART |
|
LRR
|
265 |
287 |
1.01e2 |
SMART |
|
LRR
|
288 |
310 |
1.86e1 |
SMART |
|
LRR
|
311 |
334 |
2.32e-1 |
SMART |
|
LRR
|
335 |
356 |
2.21e2 |
SMART |
|
LRR
|
471 |
493 |
1.86e0 |
SMART |
|
LRR
|
494 |
517 |
8.97e0 |
SMART |
|
LRR
|
541 |
564 |
1.53e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123028
|
| SMART Domains |
Protein: ENSMUSP00000121905
Gene: ENSMUSG00000063052
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
37 |
68 |
3e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131518
|
| SMART Domains |
Protein: ENSMUSP00000121417
Gene: ENSMUSG00000063052
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
80 |
110 |
2e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150525
|
| SMART Domains |
Protein: ENSMUSP00000116475
Gene: ENSMUSG00000063052
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
81 |
111 |
3e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156597
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200540
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
A |
T |
3: 126,819,285 (GRCm39) |
|
probably null |
Het |
| Atf7 |
A |
G |
15: 102,455,608 (GRCm39) |
M252T |
probably benign |
Het |
| Cacna1h |
C |
A |
17: 25,606,519 (GRCm39) |
D1027Y |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,992,611 (GRCm39) |
V667A |
probably benign |
Het |
| Cntf |
T |
C |
19: 12,741,368 (GRCm39) |
E164G |
probably damaging |
Het |
| Dbt |
T |
C |
3: 116,321,893 (GRCm39) |
|
probably benign |
Het |
| Egfem1 |
G |
A |
3: 29,511,972 (GRCm39) |
|
probably benign |
Het |
| Gm12790 |
C |
T |
4: 101,825,268 (GRCm39) |
V49I |
possibly damaging |
Het |
| Gm5444 |
C |
T |
13: 4,884,314 (GRCm39) |
|
noncoding transcript |
Het |
| Gpcpd1 |
A |
T |
2: 132,376,110 (GRCm39) |
Y574* |
probably null |
Het |
| Gss |
G |
T |
2: 155,415,029 (GRCm39) |
N225K |
possibly damaging |
Het |
| Il17rc |
G |
T |
6: 113,459,958 (GRCm39) |
A635S |
probably benign |
Het |
| Lhfpl5 |
T |
A |
17: 28,798,942 (GRCm39) |
D150E |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Ly6f |
A |
G |
15: 75,143,646 (GRCm39) |
T118A |
probably benign |
Het |
| Malrd1 |
A |
G |
2: 16,147,037 (GRCm39) |
N1960D |
unknown |
Het |
| Map3k14 |
T |
C |
11: 103,130,158 (GRCm39) |
H253R |
probably benign |
Het |
| Morc2a |
T |
C |
11: 3,639,084 (GRCm39) |
L1025P |
probably damaging |
Het |
| Nlrc5 |
G |
T |
8: 95,203,321 (GRCm39) |
G474W |
probably damaging |
Het |
| Olr1 |
G |
T |
6: 129,470,572 (GRCm39) |
D198E |
probably benign |
Het |
| Or5b123 |
C |
A |
19: 13,596,874 (GRCm39) |
S116* |
probably null |
Het |
| Or5d14 |
G |
A |
2: 87,880,737 (GRCm39) |
T77I |
probably benign |
Het |
| Or8c16 |
T |
C |
9: 38,130,317 (GRCm39) |
I66T |
probably benign |
Het |
| Pafah1b1 |
A |
T |
11: 74,575,278 (GRCm39) |
S209T |
probably damaging |
Het |
| Phf14 |
A |
T |
6: 11,961,641 (GRCm39) |
Y426F |
possibly damaging |
Het |
| Phldb1 |
A |
G |
9: 44,615,455 (GRCm39) |
V855A |
probably benign |
Het |
| Pira2 |
T |
G |
7: 3,847,592 (GRCm39) |
R32S |
possibly damaging |
Het |
| Pnldc1 |
T |
C |
17: 13,111,676 (GRCm39) |
I344V |
probably benign |
Het |
| Prss29 |
T |
C |
17: 25,539,881 (GRCm39) |
V93A |
probably benign |
Het |
| Ptpn13 |
C |
T |
5: 103,640,098 (GRCm39) |
L186F |
probably damaging |
Het |
| Ralgps1 |
A |
C |
2: 33,048,999 (GRCm39) |
C303W |
probably damaging |
Het |
| Sdr42e1 |
T |
A |
8: 118,390,342 (GRCm39) |
N100Y |
probably damaging |
Het |
| Serpina11 |
A |
T |
12: 103,952,503 (GRCm39) |
L96Q |
probably damaging |
Het |
| Slc12a8 |
G |
A |
16: 33,445,288 (GRCm39) |
R448H |
probably benign |
Het |
| Snrpd1 |
T |
A |
18: 10,626,892 (GRCm39) |
V53E |
probably benign |
Het |
| Ssbp1 |
T |
C |
6: 40,454,883 (GRCm39) |
V114A |
possibly damaging |
Het |
| T |
A |
G |
17: 8,655,037 (GRCm39) |
E47G |
probably damaging |
Het |
| Tmem156 |
T |
C |
5: 65,231,111 (GRCm39) |
K189R |
probably benign |
Het |
| Trim47 |
G |
T |
11: 115,998,678 (GRCm39) |
Q314K |
possibly damaging |
Het |
| Vmn2r3 |
G |
T |
3: 64,186,247 (GRCm39) |
P146Q |
probably damaging |
Het |
| Vmn2r6 |
A |
C |
3: 64,464,015 (GRCm39) |
V273G |
probably damaging |
Het |
| Wrnip1 |
G |
T |
13: 32,990,839 (GRCm39) |
R366L |
probably damaging |
Het |
| Zfp981 |
A |
T |
4: 146,621,357 (GRCm39) |
H94L |
possibly damaging |
Het |
|
| Other mutations in Lrrc40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Lrrc40
|
APN |
3 |
157,754,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00501:Lrrc40
|
APN |
3 |
157,766,919 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00727:Lrrc40
|
APN |
3 |
157,769,508 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01349:Lrrc40
|
APN |
3 |
157,764,302 (GRCm39) |
splice site |
probably benign |
|
|
IGL02377:Lrrc40
|
APN |
3 |
157,742,365 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL02490:Lrrc40
|
APN |
3 |
157,768,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02657:Lrrc40
|
APN |
3 |
157,742,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02879:Lrrc40
|
APN |
3 |
157,747,302 (GRCm39) |
intron |
probably benign |
|
|
IGL02944:Lrrc40
|
APN |
3 |
157,747,302 (GRCm39) |
intron |
probably benign |
|
|
IGL02954:Lrrc40
|
APN |
3 |
157,747,302 (GRCm39) |
intron |
probably benign |
|
|
IGL02966:Lrrc40
|
APN |
3 |
157,747,302 (GRCm39) |
intron |
probably benign |
|
|
IGL03004:Lrrc40
|
APN |
3 |
157,747,302 (GRCm39) |
intron |
probably benign |
|
|
IGL03032:Lrrc40
|
APN |
3 |
157,747,302 (GRCm39) |
intron |
probably benign |
|
|
IGL03112:Lrrc40
|
APN |
3 |
157,747,302 (GRCm39) |
intron |
probably benign |
|
|
IGL03163:Lrrc40
|
APN |
3 |
157,747,224 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
I2288:Lrrc40
|
UTSW |
3 |
157,758,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0266:Lrrc40
|
UTSW |
3 |
157,747,298 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0355:Lrrc40
|
UTSW |
3 |
157,746,108 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0457:Lrrc40
|
UTSW |
3 |
157,760,201 (GRCm39) |
splice site |
probably null |
|
|
R0968:Lrrc40
|
UTSW |
3 |
157,742,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1799:Lrrc40
|
UTSW |
3 |
157,742,441 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1962:Lrrc40
|
UTSW |
3 |
157,746,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4614:Lrrc40
|
UTSW |
3 |
157,760,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Lrrc40
|
UTSW |
3 |
157,766,967 (GRCm39) |
nonsense |
probably null |
|
|
R4857:Lrrc40
|
UTSW |
3 |
157,771,866 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4947:Lrrc40
|
UTSW |
3 |
157,769,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5673:Lrrc40
|
UTSW |
3 |
157,754,035 (GRCm39) |
splice site |
probably null |
|
|
R6354:Lrrc40
|
UTSW |
3 |
157,766,901 (GRCm39) |
nonsense |
probably null |
|
|
R6382:Lrrc40
|
UTSW |
3 |
157,764,333 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6713:Lrrc40
|
UTSW |
3 |
157,769,350 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7081:Lrrc40
|
UTSW |
3 |
157,742,442 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7098:Lrrc40
|
UTSW |
3 |
157,747,276 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7484:Lrrc40
|
UTSW |
3 |
157,746,194 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8043:Lrrc40
|
UTSW |
3 |
157,769,397 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8093:Lrrc40
|
UTSW |
3 |
157,757,419 (GRCm39) |
nonsense |
probably null |
|
|
R8461:Lrrc40
|
UTSW |
3 |
157,764,371 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9564:Lrrc40
|
UTSW |
3 |
157,746,078 (GRCm39) |
missense |
probably benign |
0.27 |
|
V1662:Lrrc40
|
UTSW |
3 |
157,758,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATGTTCTTTAGCAGCTGTAG -3'
(R):5'- AGAACACATTGTTAGCAAGGCAC -3'
Sequencing Primer
(F):5'- CTTTAGCAGCTGTAGTGTGAGC -3'
(R):5'- CACACTTGGAAGTTTTGTGCATC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation