Incidental Mutation 'IGL01349:Lrrc40'
| ID |
75294 |
| 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 # |
IGL01349
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
157742319-157772727 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 157764302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072080]
[ENSMUST00000150525]
[ENSMUST00000156597]
|
| 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 |
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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,242,076 (GRCm39) |
S1313L |
probably benign |
Het |
| Adam28 |
T |
C |
14: 68,848,455 (GRCm39) |
H667R |
probably benign |
Het |
| Arap1 |
T |
C |
7: 101,036,359 (GRCm39) |
V382A |
possibly damaging |
Het |
| Arih2 |
T |
C |
9: 108,482,609 (GRCm39) |
Y444C |
probably damaging |
Het |
| Asxl3 |
T |
G |
18: 22,657,294 (GRCm39) |
V1768G |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,798,979 (GRCm39) |
M869K |
probably benign |
Het |
| C4bp |
A |
G |
1: 130,570,665 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,881,126 (GRCm39) |
Y1167F |
probably benign |
Het |
| Cgn |
T |
A |
3: 94,674,486 (GRCm39) |
K884* |
probably null |
Het |
| Chd1l |
T |
C |
3: 97,498,550 (GRCm39) |
Y283C |
probably benign |
Het |
| Cry1 |
A |
G |
10: 84,984,603 (GRCm39) |
V157A |
probably benign |
Het |
| Dcc |
T |
A |
18: 71,503,808 (GRCm39) |
D950V |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,050,978 (GRCm39) |
F918L |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,366,432 (GRCm39) |
N1890S |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,295,059 (GRCm39) |
|
probably benign |
Het |
| Eif4b |
C |
T |
15: 101,999,858 (GRCm39) |
T412I |
probably benign |
Het |
| Eloa |
A |
C |
4: 135,741,758 (GRCm39) |
Y29D |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,385,752 (GRCm39) |
F279S |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,718,207 (GRCm39) |
D316G |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,058,531 (GRCm39) |
S363G |
probably benign |
Het |
| Gpam |
A |
G |
19: 55,084,551 (GRCm39) |
|
probably null |
Het |
| Il17rd |
T |
A |
14: 26,817,901 (GRCm39) |
S197T |
probably damaging |
Het |
| Iqsec3 |
T |
C |
6: 121,450,083 (GRCm39) |
E147G |
possibly damaging |
Het |
| Itk |
T |
A |
11: 46,232,027 (GRCm39) |
T303S |
possibly damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,914,743 (GRCm39) |
D716G |
possibly damaging |
Het |
| Lca5 |
A |
G |
9: 83,308,670 (GRCm39) |
S59P |
probably damaging |
Het |
| Mmp7 |
T |
C |
9: 7,699,335 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,359,983 (GRCm39) |
T4427A |
probably damaging |
Het |
| Nf2 |
T |
C |
11: 4,734,472 (GRCm39) |
D513G |
possibly damaging |
Het |
| Or2y1b |
T |
A |
11: 49,209,127 (GRCm39) |
Y251* |
probably null |
Het |
| Pde7a |
C |
T |
3: 19,283,843 (GRCm39) |
|
probably benign |
Het |
| Pira2 |
T |
C |
7: 3,847,138 (GRCm39) |
T135A |
probably damaging |
Het |
| Rb1 |
T |
C |
14: 73,506,558 (GRCm39) |
Y397C |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,927,122 (GRCm39) |
M2187K |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,602,125 (GRCm39) |
I4586F |
possibly damaging |
Het |
| Serpinb3c |
A |
T |
1: 107,200,513 (GRCm39) |
M210K |
probably damaging |
Het |
| Slc22a19 |
C |
A |
19: 7,651,792 (GRCm39) |
V472F |
probably benign |
Het |
| Slc4a11 |
A |
G |
2: 130,528,863 (GRCm39) |
I462T |
probably benign |
Het |
| Spag11b |
A |
T |
8: 19,191,492 (GRCm39) |
H55L |
probably damaging |
Het |
| Trpv5 |
G |
T |
6: 41,652,309 (GRCm39) |
N125K |
possibly damaging |
Het |
| Ubr4 |
G |
T |
4: 139,208,039 (GRCm39) |
R4940L |
unknown |
Het |
| Vcan |
T |
A |
13: 89,852,062 (GRCm39) |
H966L |
probably damaging |
Het |
| Vmn1r204 |
T |
A |
13: 22,740,504 (GRCm39) |
I45K |
probably damaging |
Het |
| Vnn3 |
A |
T |
10: 23,727,814 (GRCm39) |
I75F |
probably damaging |
Het |
| Vps13b |
A |
T |
15: 35,794,091 (GRCm39) |
M2256L |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,259,353 (GRCm39) |
L1642M |
probably 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 |
|
|
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 |
2013-10-07 |
Incidental Mutation