Incidental Mutation 'IGL03112:Lrrc40'
| ID |
419253 |
| 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 # |
IGL03112
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
T |
C |
8: 43,974,549 (GRCm39) |
N151S |
probably benign |
Het |
| Adgre1 |
G |
A |
17: 57,755,029 (GRCm39) |
|
probably null |
Het |
| Apol11a |
T |
A |
15: 77,401,509 (GRCm39) |
L332Q |
probably damaging |
Het |
| B430306N03Rik |
C |
T |
17: 48,623,834 (GRCm39) |
S45L |
probably benign |
Het |
| Cend1 |
G |
A |
7: 141,007,640 (GRCm39) |
T60M |
probably benign |
Het |
| Col6a3 |
C |
A |
1: 90,739,242 (GRCm39) |
E329* |
probably null |
Het |
| Col9a3 |
A |
G |
2: 180,249,435 (GRCm39) |
R266G |
possibly damaging |
Het |
| Defb48 |
C |
T |
14: 63,221,854 (GRCm39) |
|
probably benign |
Het |
| Eps8l2 |
T |
G |
7: 140,941,649 (GRCm39) |
L640R |
probably damaging |
Het |
| Exoc2 |
T |
A |
13: 31,090,570 (GRCm39) |
|
probably benign |
Het |
| Fam149a |
C |
T |
8: 45,801,580 (GRCm39) |
V514M |
possibly damaging |
Het |
| Fbxo25 |
A |
T |
8: 13,971,034 (GRCm39) |
D74V |
probably benign |
Het |
| Gm11733 |
A |
G |
11: 117,377,966 (GRCm39) |
*126W |
probably null |
Het |
| Grm8 |
C |
T |
6: 27,363,262 (GRCm39) |
C751Y |
probably damaging |
Het |
| Kctd16 |
A |
T |
18: 40,391,853 (GRCm39) |
D147V |
probably benign |
Het |
| Lclat1 |
A |
T |
17: 73,546,742 (GRCm39) |
T220S |
probably damaging |
Het |
| Lgi1 |
T |
A |
19: 38,272,478 (GRCm39) |
H116Q |
possibly damaging |
Het |
| Lsm4 |
T |
A |
8: 71,130,656 (GRCm39) |
I60N |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,177,601 (GRCm39) |
Y178N |
probably damaging |
Het |
| Mybl2 |
A |
G |
2: 162,904,456 (GRCm39) |
E89G |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 113,021,856 (GRCm39) |
E512G |
probably benign |
Het |
| Myrfl |
A |
T |
10: 116,639,311 (GRCm39) |
S583T |
probably benign |
Het |
| Nek6 |
A |
G |
2: 38,450,914 (GRCm39) |
I106V |
probably damaging |
Het |
| Oas1a |
A |
T |
5: 121,036,412 (GRCm39) |
D338E |
possibly damaging |
Het |
| Or10ag52 |
T |
A |
2: 87,043,944 (GRCm39) |
I236N |
probably damaging |
Het |
| Or4a76 |
G |
A |
2: 89,460,678 (GRCm39) |
T188I |
probably benign |
Het |
| Or6c1 |
A |
G |
10: 129,517,792 (GRCm39) |
V272A |
probably benign |
Het |
| Pitrm1 |
C |
A |
13: 6,615,044 (GRCm39) |
Q508K |
probably benign |
Het |
| S100b |
A |
G |
10: 76,095,808 (GRCm39) |
D62G |
probably damaging |
Het |
| Sesn3 |
A |
G |
9: 14,221,557 (GRCm39) |
H119R |
probably damaging |
Het |
| Sez6l |
T |
A |
5: 112,621,333 (GRCm39) |
E247V |
probably damaging |
Het |
| Shoc1 |
G |
T |
4: 59,049,355 (GRCm39) |
Q1069K |
probably benign |
Het |
| Shq1 |
C |
A |
6: 100,550,574 (GRCm39) |
E455* |
probably null |
Het |
| Slc9b1 |
T |
A |
3: 135,103,433 (GRCm39) |
M521K |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,413,855 (GRCm39) |
F543L |
probably damaging |
Het |
| Tcf25 |
T |
C |
8: 124,109,258 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
C |
A |
4: 137,335,375 (GRCm39) |
Q183K |
probably damaging |
Het |
| Vmn1r178 |
G |
A |
7: 23,593,086 (GRCm39) |
G45S |
probably damaging |
Het |
| Vmn1r237 |
T |
A |
17: 21,534,368 (GRCm39) |
Y30* |
probably null |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation