Incidental Mutation 'IGL03004:Lrrc40'
| ID |
407497 |
| 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 # |
IGL03004
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atrx |
A |
T |
X: 104,876,115 (GRCm39) |
C78* |
probably null |
Het |
| Birc6 |
T |
A |
17: 74,919,180 (GRCm39) |
N1999K |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,019,826 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpg |
G |
A |
19: 6,361,413 (GRCm39) |
R313Q |
probably benign |
Het |
| Clip3 |
A |
G |
7: 29,991,789 (GRCm39) |
Y55C |
probably damaging |
Het |
| Ddit4l |
A |
G |
3: 137,331,966 (GRCm39) |
N111D |
probably benign |
Het |
| Eprs1 |
T |
G |
1: 185,114,030 (GRCm39) |
M326R |
probably damaging |
Het |
| F8 |
C |
T |
X: 74,255,658 (GRCm39) |
G2045D |
probably damaging |
Het |
| Fstl5 |
A |
G |
3: 76,555,738 (GRCm39) |
|
probably benign |
Het |
| Gm10577 |
T |
C |
4: 100,877,526 (GRCm39) |
|
probably benign |
Het |
| Heatr6 |
T |
C |
11: 83,648,205 (GRCm39) |
S133P |
probably benign |
Het |
| Itpr3 |
T |
G |
17: 27,316,952 (GRCm39) |
F736V |
possibly damaging |
Het |
| Klf8 |
T |
C |
X: 152,165,716 (GRCm39) |
L95P |
probably damaging |
Het |
| Map3k12 |
A |
G |
15: 102,412,631 (GRCm39) |
V247A |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,919,413 (GRCm39) |
Y6211H |
probably damaging |
Het |
| Or1j19 |
A |
G |
2: 36,677,194 (GRCm39) |
Y219C |
probably damaging |
Het |
| Pip4k2b |
A |
G |
11: 97,615,300 (GRCm39) |
Y187H |
probably damaging |
Het |
| Rabggta |
A |
G |
14: 55,956,687 (GRCm39) |
|
probably benign |
Het |
| Ranbp3 |
T |
A |
17: 57,014,207 (GRCm39) |
V246E |
probably damaging |
Het |
| Rtf1 |
C |
A |
2: 119,531,754 (GRCm39) |
|
probably benign |
Het |
| Sema3b |
G |
A |
9: 107,480,114 (GRCm39) |
P208L |
possibly damaging |
Het |
| Smpd1 |
A |
G |
7: 105,205,881 (GRCm39) |
D416G |
possibly damaging |
Het |
| Spam1 |
T |
C |
6: 24,796,913 (GRCm39) |
V288A |
probably damaging |
Het |
| Stac |
A |
C |
9: 111,431,608 (GRCm39) |
S248A |
probably benign |
Het |
| Tmem178b |
C |
A |
6: 40,222,515 (GRCm39) |
R77S |
probably damaging |
Het |
| Vegfd |
T |
C |
X: 163,185,104 (GRCm39) |
L352P |
probably benign |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,702 (GRCm39) |
N150K |
probably damaging |
Het |
| Vmn1r230 |
T |
C |
17: 21,067,772 (GRCm39) |
|
probably benign |
Het |
| Vsig10 |
A |
G |
5: 117,463,140 (GRCm39) |
Y122C |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,518,766 (GRCm39) |
V121E |
probably damaging |
Het |
| Zrsr2 |
T |
C |
X: 162,722,397 (GRCm39) |
Q285R |
probably benign |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation