Incidental Mutation 'IGL00501:Lrrc40'
ID |
6726 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrc40
|
Ensembl Gene |
ENSMUSG00000063052 |
Gene Name |
leucine rich repeat containing 40 |
Synonyms |
2610040E16Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
IGL00501
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
157742319-157772727 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 157766919 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 458
(F458S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071956
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072080]
[ENSMUST00000150525]
[ENSMUST00000156597]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072080
AA Change: F458S
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000071956 Gene: ENSMUSG00000063052 AA Change: F458S
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 |
noncoding transcript
Transcript: ENSMUST00000132530
|
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 |
noncoding transcript
Transcript: ENSMUST00000199290
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat1 |
T |
C |
9: 53,493,895 (GRCm39) |
I409V |
probably damaging |
Het |
Adck1 |
A |
G |
12: 88,335,192 (GRCm39) |
N26S |
probably benign |
Het |
Adgrf5 |
G |
A |
17: 43,760,806 (GRCm39) |
A834T |
possibly damaging |
Het |
Agpat5 |
T |
C |
8: 18,926,148 (GRCm39) |
|
probably null |
Het |
Ano8 |
A |
C |
8: 71,931,793 (GRCm39) |
|
probably null |
Het |
Baz2a |
T |
A |
10: 127,950,494 (GRCm39) |
M476K |
probably benign |
Het |
Cgas |
G |
A |
9: 78,342,869 (GRCm39) |
A311V |
probably damaging |
Het |
Col16a1 |
A |
G |
4: 129,988,345 (GRCm39) |
|
probably null |
Het |
Cyp3a13 |
A |
T |
5: 137,910,195 (GRCm39) |
I113N |
probably benign |
Het |
Dstn |
A |
G |
2: 143,784,094 (GRCm39) |
T146A |
probably benign |
Het |
Eif2ak1 |
A |
T |
5: 143,826,288 (GRCm39) |
M434L |
probably damaging |
Het |
Gba2 |
G |
A |
4: 43,568,477 (GRCm39) |
A663V |
probably damaging |
Het |
Gja10 |
T |
C |
4: 32,601,230 (GRCm39) |
T385A |
possibly damaging |
Het |
Gm42878 |
A |
C |
5: 121,671,406 (GRCm39) |
I209R |
probably damaging |
Het |
Grk1 |
T |
A |
8: 13,457,835 (GRCm39) |
V245E |
probably damaging |
Het |
H2az1 |
T |
C |
3: 137,571,357 (GRCm39) |
V53A |
probably damaging |
Het |
Hycc1 |
A |
G |
5: 24,190,843 (GRCm39) |
|
probably benign |
Het |
Kctd16 |
G |
A |
18: 40,390,440 (GRCm39) |
|
probably benign |
Het |
Klhdc8b |
C |
T |
9: 108,326,105 (GRCm39) |
R263H |
probably benign |
Het |
Lcn8 |
T |
C |
2: 25,545,119 (GRCm39) |
|
probably benign |
Het |
Ldlr |
T |
C |
9: 21,646,657 (GRCm39) |
|
probably null |
Het |
Lypla1 |
T |
A |
1: 4,898,810 (GRCm39) |
H35Q |
probably damaging |
Het |
Mink1 |
C |
T |
11: 70,494,638 (GRCm39) |
T273I |
probably damaging |
Het |
Neb |
A |
G |
2: 52,185,356 (GRCm39) |
F959L |
probably benign |
Het |
Nedd4l |
A |
T |
18: 65,341,163 (GRCm39) |
D704V |
probably damaging |
Het |
Peak1 |
C |
T |
9: 56,134,610 (GRCm39) |
E1274K |
probably damaging |
Het |
Prkcz |
G |
T |
4: 155,378,858 (GRCm39) |
|
probably benign |
Het |
Rabgap1 |
T |
A |
2: 37,359,558 (GRCm39) |
N40K |
probably damaging |
Het |
Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
Spink5 |
A |
G |
18: 44,110,806 (GRCm39) |
T126A |
probably damaging |
Het |
Tanc2 |
T |
C |
11: 105,814,046 (GRCm39) |
V1830A |
probably benign |
Het |
Tmem104 |
T |
C |
11: 115,134,763 (GRCm39) |
I433T |
probably damaging |
Het |
Trim10 |
G |
A |
17: 37,187,939 (GRCm39) |
R385K |
probably benign |
Het |
Zbtb44 |
A |
G |
9: 30,965,606 (GRCm39) |
I339V |
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 |
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 |
R5148:Lrrc40
|
UTSW |
3 |
157,760,206 (GRCm39) |
splice site |
probably null |
|
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 |
|
Posted On |
2012-04-20 |