Incidental Mutation 'IGL02879:Lrrc40'
ID |
362757 |
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: 0.141)
|
Stock # |
IGL02879
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
157742319-157772727 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
G to A
at 157747302 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072080]
[ENSMUST00000150525]
[ENSMUST00000156597]
[ENSMUST00000200540]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
A |
G |
5: 81,659,966 (GRCm39) |
Y245C |
probably damaging |
Het |
Asb3 |
G |
A |
11: 31,051,067 (GRCm39) |
R507H |
probably damaging |
Het |
Cacna1g |
A |
C |
11: 94,300,431 (GRCm39) |
I2118S |
probably benign |
Het |
Col3a1 |
A |
T |
1: 45,380,119 (GRCm39) |
|
probably benign |
Het |
Ecscr |
T |
C |
18: 35,846,731 (GRCm39) |
N221S |
possibly damaging |
Het |
Enpp4 |
T |
C |
17: 44,412,841 (GRCm39) |
D231G |
probably benign |
Het |
Fastkd5 |
A |
G |
2: 130,456,341 (GRCm39) |
Y750H |
probably damaging |
Het |
Gm42688 |
A |
G |
6: 83,084,125 (GRCm39) |
Y510C |
probably damaging |
Het |
Gtse1 |
T |
C |
15: 85,753,264 (GRCm39) |
|
probably benign |
Het |
Il4ra |
A |
G |
7: 125,176,069 (GRCm39) |
E759G |
possibly damaging |
Het |
Itgb4 |
A |
G |
11: 115,885,178 (GRCm39) |
D1019G |
probably benign |
Het |
Kcnh1 |
T |
C |
1: 191,959,223 (GRCm39) |
V259A |
probably damaging |
Het |
Ksr1 |
G |
A |
11: 78,965,270 (GRCm39) |
L15F |
probably damaging |
Het |
Myh15 |
A |
T |
16: 48,993,422 (GRCm39) |
T1686S |
possibly damaging |
Het |
Neb |
A |
C |
2: 52,146,697 (GRCm39) |
L2856V |
possibly damaging |
Het |
Nkapd1 |
C |
T |
9: 50,520,671 (GRCm39) |
|
probably null |
Het |
Pcnx2 |
A |
T |
8: 126,498,796 (GRCm39) |
C1568S |
probably damaging |
Het |
Pld5 |
T |
A |
1: 175,798,157 (GRCm39) |
K352I |
probably damaging |
Het |
Prmt3 |
A |
G |
7: 49,467,811 (GRCm39) |
D339G |
probably benign |
Het |
Ptbp2 |
A |
G |
3: 119,534,054 (GRCm39) |
Y272H |
probably damaging |
Het |
Ptprb |
A |
G |
10: 116,163,873 (GRCm39) |
D847G |
probably benign |
Het |
Rin1 |
C |
T |
19: 5,101,383 (GRCm39) |
T89I |
probably damaging |
Het |
Runx1t1 |
T |
C |
4: 13,889,868 (GRCm39) |
I599T |
unknown |
Het |
Serinc3 |
A |
G |
2: 163,474,172 (GRCm39) |
|
probably benign |
Het |
Slc27a5 |
C |
T |
7: 12,728,971 (GRCm39) |
|
probably benign |
Het |
Terf2 |
C |
T |
8: 107,803,329 (GRCm39) |
S417N |
probably benign |
Het |
Tyw1 |
T |
C |
5: 130,325,612 (GRCm39) |
V500A |
probably damaging |
Het |
Upk1b |
G |
A |
16: 38,596,640 (GRCm39) |
|
probably benign |
Het |
Vmn1r81 |
C |
T |
7: 11,994,319 (GRCm39) |
M96I |
probably benign |
Het |
Vmn2r11 |
A |
T |
5: 109,201,704 (GRCm39) |
Y267N |
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 |
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 |
2015-12-18 |