Incidental Mutation 'R5673:Lrrc40'
| ID |
442712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc40
|
| Ensembl Gene |
ENSMUSG00000063052 |
| Gene Name |
leucine rich repeat containing 40 |
| Synonyms |
2610040E16Rik |
| MMRRC Submission |
043175-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R5673 (G1)
|
| Quality Score |
202 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
157742319-157772727 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 157754035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072080]
[ENSMUST00000072080]
[ENSMUST00000150525]
[ENSMUST00000150525]
[ENSMUST00000156597]
[ENSMUST00000156597]
[ENSMUST00000200540]
[ENSMUST00000200540]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 null
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: 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: 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: 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: ENSMUST00000156597
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200540
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200540
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
A |
3: 40,877,886 (GRCm39) |
M94K |
probably damaging |
Het |
| Adam2 |
A |
G |
14: 66,306,681 (GRCm39) |
Y103H |
probably benign |
Het |
| Adamts17 |
T |
C |
7: 66,691,555 (GRCm39) |
C580R |
probably damaging |
Het |
| Aqp5 |
G |
A |
15: 99,492,046 (GRCm39) |
V98I |
probably benign |
Het |
| Brd2 |
A |
G |
17: 34,331,581 (GRCm39) |
|
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,449,787 (GRCm39) |
N566S |
probably damaging |
Het |
| Cdh23 |
C |
T |
10: 60,143,636 (GRCm39) |
D2992N |
probably damaging |
Het |
| Cfap69 |
T |
C |
5: 5,646,027 (GRCm39) |
T140A |
possibly damaging |
Het |
| Cfi |
A |
G |
3: 129,648,658 (GRCm39) |
I181V |
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,962,499 (GRCm39) |
L133P |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,539,622 (GRCm39) |
L1297F |
unknown |
Het |
| Crot |
T |
C |
5: 9,038,131 (GRCm39) |
N132S |
probably benign |
Het |
| Dnah3 |
T |
A |
7: 119,550,812 (GRCm39) |
Q3169L |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 31,022,235 (GRCm39) |
M3945K |
probably damaging |
Het |
| Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
| Fam204a |
T |
C |
19: 60,188,415 (GRCm39) |
K216E |
probably damaging |
Het |
| Far2 |
A |
T |
6: 148,047,602 (GRCm39) |
S94C |
possibly damaging |
Het |
| Gm14226 |
T |
A |
2: 154,866,842 (GRCm39) |
S266R |
possibly damaging |
Het |
| Gpr137 |
A |
G |
19: 6,916,466 (GRCm39) |
F276L |
probably damaging |
Het |
| Lhx3 |
T |
C |
2: 26,093,006 (GRCm39) |
Y148C |
probably damaging |
Het |
| Lrfn2 |
T |
C |
17: 49,403,625 (GRCm39) |
S583P |
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,930,580 (GRCm39) |
I224N |
probably damaging |
Het |
| Meis1 |
T |
C |
11: 18,962,812 (GRCm39) |
K161E |
probably damaging |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Mrgprb2 |
A |
T |
7: 48,202,121 (GRCm39) |
F201L |
probably benign |
Het |
| Mroh1 |
T |
A |
15: 76,314,381 (GRCm39) |
L686Q |
probably damaging |
Het |
| Mybbp1a |
G |
A |
11: 72,335,751 (GRCm39) |
V421I |
probably benign |
Het |
| Nadk |
G |
A |
4: 155,669,642 (GRCm39) |
V143I |
possibly damaging |
Het |
| Nell1 |
A |
T |
7: 49,878,594 (GRCm39) |
T272S |
probably damaging |
Het |
| Npnt |
A |
T |
3: 132,623,258 (GRCm39) |
C94S |
probably damaging |
Het |
| Olfml2b |
T |
A |
1: 170,509,698 (GRCm39) |
V682E |
probably damaging |
Het |
| Pacs2 |
G |
A |
12: 113,032,618 (GRCm39) |
V655M |
probably damaging |
Het |
| Pcdha1 |
A |
C |
18: 37,063,726 (GRCm39) |
N130T |
probably damaging |
Het |
| Resf1 |
C |
T |
6: 149,229,491 (GRCm39) |
Q846* |
probably null |
Het |
| Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,257,105 (GRCm39) |
S566P |
probably damaging |
Het |
| Sirpa |
T |
G |
2: 129,472,022 (GRCm39) |
V483G |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 144,062,206 (GRCm39) |
R149G |
probably damaging |
Het |
| Tbc1d4 |
A |
G |
14: 101,692,444 (GRCm39) |
S1007P |
probably damaging |
Het |
| Tnfrsf8 |
A |
G |
4: 145,011,905 (GRCm39) |
F317L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,547,389 (GRCm39) |
K32219R |
probably damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,630 (GRCm39) |
T11S |
possibly damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,596,615 (GRCm39) |
L147I |
probably benign |
Het |
| Vmn2r77 |
C |
T |
7: 86,461,214 (GRCm39) |
H847Y |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCACATGTTCTACTGCAGAGG -3'
(R):5'- CCAAAAGAAAGTTGCATTAACCTCG -3'
Sequencing Primer
(F):5'- CACATGTTCTACTGCAGAGGTATTAC -3'
(R):5'- GTTGCATTAACCTCGAATTCATACAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation