Incidental Mutation 'R6443:Lrrc1'
| ID |
519093 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc1
|
| Ensembl Gene |
ENSMUSG00000032352 |
| Gene Name |
leucine rich repeat containing 1 |
| Synonyms |
A430093J20Rik |
| MMRRC Submission |
044581-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R6443 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
77338105-77452152 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77341314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 415
(F415L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113421]
[ENSMUST00000183873]
|
| AlphaFold |
Q80VQ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113421
AA Change: F415L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109048
Gene: ENSMUSG00000032352
AA Change: F415L
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
13 |
35 |
6.57e-1 |
SMART |
|
LRR
|
36 |
59 |
1.12e2 |
SMART |
|
LRR
|
82 |
104 |
2.15e2 |
SMART |
|
LRR
|
105 |
127 |
3.09e1 |
SMART |
|
LRR
|
128 |
150 |
2.14e0 |
SMART |
|
LRR
|
151 |
173 |
3.02e0 |
SMART |
|
LRR
|
174 |
196 |
3.47e0 |
SMART |
|
LRR
|
197 |
219 |
6.58e0 |
SMART |
|
LRR_TYP
|
220 |
243 |
4.72e-2 |
SMART |
|
LRR
|
266 |
289 |
8.97e0 |
SMART |
|
LRR
|
313 |
335 |
1.49e2 |
SMART |
|
coiled coil region
|
440 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183467
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183873
AA Change: F460L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139226
Gene: ENSMUSG00000032352
AA Change: F460L
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
36 |
57 |
3.18e1 |
SMART |
|
LRR
|
58 |
80 |
6.57e-1 |
SMART |
|
LRR
|
81 |
104 |
1.12e2 |
SMART |
|
LRR
|
127 |
149 |
2.15e2 |
SMART |
|
LRR
|
150 |
172 |
3.09e1 |
SMART |
|
LRR
|
173 |
195 |
2.14e0 |
SMART |
|
LRR
|
196 |
218 |
3.02e0 |
SMART |
|
LRR
|
219 |
241 |
3.47e0 |
SMART |
|
LRR
|
242 |
264 |
6.58e0 |
SMART |
|
LRR_TYP
|
265 |
288 |
4.72e-2 |
SMART |
|
LRR
|
311 |
334 |
8.97e0 |
SMART |
|
LRR
|
358 |
380 |
1.49e2 |
SMART |
|
coiled coil region
|
485 |
506 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184099
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 91.9%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
G |
9: 4,309,357 (GRCm39) |
L27P |
probably damaging |
Het |
| Actr6 |
T |
C |
10: 89,550,733 (GRCm39) |
N354D |
probably damaging |
Het |
| Apbb1 |
T |
A |
7: 105,222,970 (GRCm39) |
N214Y |
probably damaging |
Het |
| Bcar1 |
A |
T |
8: 112,441,970 (GRCm39) |
V290E |
probably damaging |
Het |
| Ces1f |
T |
A |
8: 94,001,993 (GRCm39) |
Q45L |
probably benign |
Het |
| Ctss |
A |
C |
3: 95,454,114 (GRCm39) |
K221T |
probably benign |
Het |
| Dclre1b |
T |
A |
3: 103,710,504 (GRCm39) |
N469I |
possibly damaging |
Het |
| Dnah12 |
C |
A |
14: 26,600,008 (GRCm39) |
Q3683K |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,990,859 (GRCm39) |
I3301V |
probably benign |
Het |
| Ephb4 |
G |
A |
5: 137,358,711 (GRCm39) |
G298E |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,439,238 (GRCm39) |
F455L |
probably damaging |
Het |
| Fkbp5 |
G |
T |
17: 28,648,253 (GRCm39) |
A112D |
probably damaging |
Het |
| Glud1 |
T |
C |
14: 34,061,884 (GRCm39) |
M468T |
probably benign |
Het |
| Gm5114 |
C |
A |
7: 39,057,141 (GRCm39) |
R826L |
possibly damaging |
Het |
| Gramd2b |
G |
A |
18: 56,618,457 (GRCm39) |
V222I |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,548,663 (GRCm39) |
S576P |
probably benign |
Het |
| Mtmr3 |
A |
T |
11: 4,437,358 (GRCm39) |
I1032K |
probably damaging |
Het |
| Nr5a1 |
G |
A |
2: 38,600,442 (GRCm39) |
T75M |
probably damaging |
Het |
| Nwd1 |
G |
A |
8: 73,388,994 (GRCm39) |
V141I |
possibly damaging |
Het |
| Or1e1b-ps1 |
A |
T |
11: 73,845,918 (GRCm39) |
Q134L |
probably benign |
Het |
| Or5ar1 |
T |
G |
2: 85,671,979 (GRCm39) |
D52A |
probably damaging |
Het |
| Or6c214 |
C |
A |
10: 129,591,277 (GRCm39) |
G14V |
probably damaging |
Het |
| Pla1a |
T |
C |
16: 38,229,949 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
A |
G |
12: 76,464,413 (GRCm39) |
S4G |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Ryr1 |
A |
T |
7: 28,776,503 (GRCm39) |
M2204K |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,506,278 (GRCm39) |
N3428S |
possibly damaging |
Het |
| Slc6a4 |
A |
G |
11: 76,914,027 (GRCm39) |
K526E |
probably benign |
Het |
| Slc9a8 |
G |
A |
2: 167,276,741 (GRCm39) |
R78H |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,089,429 (GRCm39) |
D611G |
possibly damaging |
Het |
| Sstr2 |
G |
A |
11: 113,516,080 (GRCm39) |
|
probably null |
Het |
| Tcf7 |
G |
T |
11: 52,144,765 (GRCm39) |
T286N |
probably benign |
Het |
| Txndc5 |
A |
G |
13: 38,712,179 (GRCm39) |
M69T |
possibly damaging |
Het |
| Usp48 |
T |
A |
4: 137,341,074 (GRCm39) |
V358E |
probably damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,374 (GRCm39) |
I745K |
possibly damaging |
Het |
| Zfp354b |
A |
G |
11: 50,813,581 (GRCm39) |
I448T |
possibly damaging |
Het |
| Zfp523 |
A |
T |
17: 28,420,381 (GRCm39) |
T189S |
probably damaging |
Het |
|
| Other mutations in Lrrc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02556:Lrrc1
|
APN |
9 |
77,342,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02975:Lrrc1
|
APN |
9 |
77,359,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03063:Lrrc1
|
APN |
9 |
77,406,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
G1Funyon:Lrrc1
|
UTSW |
9 |
77,451,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Lrrc1
|
UTSW |
9 |
77,379,488 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1462:Lrrc1
|
UTSW |
9 |
77,349,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1462:Lrrc1
|
UTSW |
9 |
77,349,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1615:Lrrc1
|
UTSW |
9 |
77,342,400 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2932:Lrrc1
|
UTSW |
9 |
77,364,721 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5087:Lrrc1
|
UTSW |
9 |
77,364,740 (GRCm39) |
missense |
probably benign |
|
|
R5907:Lrrc1
|
UTSW |
9 |
77,341,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6502:Lrrc1
|
UTSW |
9 |
77,349,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7073:Lrrc1
|
UTSW |
9 |
77,375,847 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7162:Lrrc1
|
UTSW |
9 |
77,339,472 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7177:Lrrc1
|
UTSW |
9 |
77,379,504 (GRCm39) |
nonsense |
probably null |
|
|
R7290:Lrrc1
|
UTSW |
9 |
77,365,121 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7885:Lrrc1
|
UTSW |
9 |
77,349,471 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8301:Lrrc1
|
UTSW |
9 |
77,451,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8375:Lrrc1
|
UTSW |
9 |
77,365,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8945:Lrrc1
|
UTSW |
9 |
77,342,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9188:Lrrc1
|
UTSW |
9 |
77,362,487 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9225:Lrrc1
|
UTSW |
9 |
77,359,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9336:Lrrc1
|
UTSW |
9 |
77,349,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9574:Lrrc1
|
UTSW |
9 |
77,358,708 (GRCm39) |
missense |
probably damaging |
0.97 |
|
RF020:Lrrc1
|
UTSW |
9 |
77,359,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCCCATTCACTTGTCATGAC -3'
(R):5'- ATGGATTCAGACCAGTCAGCC -3'
Sequencing Primer
(F):5'- GTCATGACTTATGGCTTTGAGAAC -3'
(R):5'- GTCAGCCACTAAATTACAGTGTAGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation