Incidental Mutation 'R8037:Lrch1'
| ID |
618305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrch1
|
| Ensembl Gene |
ENSMUSG00000068015 |
| Gene Name |
leucine-rich repeats and calponin homology (CH) domain containing 1 |
| Synonyms |
4832412D13Rik, Chdc1 |
| MMRRC Submission |
067474-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8037 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
74992115-75185316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75023794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 577
(D577G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088970]
[ENSMUST00000228252]
|
| AlphaFold |
P62046 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088970
AA Change: D577G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086363
Gene: ENSMUSG00000068015
AA Change: D577G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
44 |
N/A |
INTRINSIC |
|
LRR
|
109 |
131 |
1.86e1 |
SMART |
|
LRR_TYP
|
132 |
155 |
3.39e-3 |
SMART |
|
LRR
|
177 |
199 |
1.41e1 |
SMART |
|
LRR
|
200 |
223 |
4.34e-1 |
SMART |
|
LRR
|
245 |
268 |
1.66e1 |
SMART |
|
low complexity region
|
306 |
322 |
N/A |
INTRINSIC |
|
CH
|
591 |
698 |
1.71e-18 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228252
AA Change: D550G
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous knockout leads to increased susceptibility to experimental autoimmune encephalomyelitis as a result of increased migration of T cells into the central nervous system. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,243,904 (GRCm39) |
W1922C |
probably damaging |
Het |
| Acad11 |
T |
A |
9: 103,953,035 (GRCm39) |
I88N |
possibly damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,404,510 (GRCm39) |
C309S |
probably damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,771,676 (GRCm39) |
V1343E |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,992,161 (GRCm39) |
Y72N |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,946,776 (GRCm39) |
T2339A |
probably damaging |
Het |
| Ccdc121rt3 |
A |
G |
5: 112,502,882 (GRCm39) |
V274A |
probably benign |
Het |
| Ccr8 |
T |
C |
9: 119,923,436 (GRCm39) |
F184L |
probably benign |
Het |
| Dbh |
A |
G |
2: 27,055,700 (GRCm39) |
D58G |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,116,692 (GRCm39) |
|
probably null |
Het |
| Dhdds |
G |
A |
4: 133,724,158 (GRCm39) |
T52I |
probably benign |
Het |
| Dnmt1 |
A |
C |
9: 20,852,860 (GRCm39) |
V82G |
probably damaging |
Het |
| Efemp2 |
C |
T |
19: 5,530,141 (GRCm39) |
Q290* |
probably null |
Het |
| Eipr1 |
A |
G |
12: 28,914,676 (GRCm39) |
S277G |
probably benign |
Het |
| Fam110b |
A |
G |
4: 5,799,511 (GRCm39) |
I310V |
possibly damaging |
Het |
| Foxn4 |
T |
C |
5: 114,394,658 (GRCm39) |
D423G |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,816,322 (GRCm39) |
N4018K |
possibly damaging |
Het |
| Gm12887 |
T |
A |
4: 121,472,887 (GRCm39) |
D85V |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,394,119 (GRCm39) |
V473A |
probably benign |
Het |
| Hnrnpu |
A |
T |
1: 178,159,917 (GRCm39) |
F388Y |
unknown |
Het |
| Hoxa5 |
A |
G |
6: 52,181,309 (GRCm39) |
S8P |
probably damaging |
Het |
| Ier5 |
A |
T |
1: 154,975,175 (GRCm39) |
M1K |
probably null |
Het |
| Ighv1-52 |
A |
G |
12: 115,109,210 (GRCm39) |
F83S |
probably damaging |
Het |
| Lrrk1 |
A |
T |
7: 65,935,089 (GRCm39) |
M1010K |
probably benign |
Het |
| Mttp |
T |
G |
3: 137,796,883 (GRCm39) |
N873T |
probably damaging |
Het |
| Nphs2 |
A |
G |
1: 156,138,400 (GRCm39) |
R15G |
possibly damaging |
Het |
| Or4a70 |
A |
T |
2: 89,324,055 (GRCm39) |
N200K |
possibly damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,319 (GRCm39) |
T218A |
probably benign |
Het |
| Or8d6 |
T |
A |
9: 39,854,177 (GRCm39) |
V207D |
probably damaging |
Het |
| Pcdhga8 |
T |
C |
18: 37,860,071 (GRCm39) |
S376P |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,429,650 (GRCm39) |
N737S |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pgap6 |
T |
C |
17: 26,336,509 (GRCm39) |
L209P |
possibly damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Rin1 |
T |
A |
19: 5,101,852 (GRCm39) |
L179Q |
probably damaging |
Het |
| Sec63 |
T |
A |
10: 42,659,483 (GRCm39) |
M57K |
probably benign |
Het |
| Senp2 |
C |
T |
16: 21,832,888 (GRCm39) |
Q59* |
probably null |
Het |
| St8sia5 |
G |
A |
18: 77,336,238 (GRCm39) |
V224I |
possibly damaging |
Het |
| Sycp2 |
A |
T |
2: 178,045,571 (GRCm39) |
D16E |
probably damaging |
Het |
| Tab1 |
A |
G |
15: 80,044,471 (GRCm39) |
T500A |
probably benign |
Het |
| Tead1 |
A |
G |
7: 112,358,727 (GRCm39) |
D13G |
possibly damaging |
Het |
| Tecpr2 |
T |
C |
12: 110,902,854 (GRCm39) |
F860L |
probably benign |
Het |
| Tg |
A |
G |
15: 66,560,724 (GRCm39) |
M1029V |
probably benign |
Het |
| Tnni2 |
A |
G |
7: 141,997,691 (GRCm39) |
R109G |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,016,178 (GRCm39) |
K320R |
probably damaging |
Het |
| Vmn1r9 |
T |
A |
6: 57,047,988 (GRCm39) |
V21D |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,741,932 (GRCm39) |
F332S |
probably damaging |
Het |
|
| Other mutations in Lrch1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01124:Lrch1
|
APN |
14 |
74,994,503 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01137:Lrch1
|
APN |
14 |
74,994,532 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01978:Lrch1
|
APN |
14 |
75,023,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01988:Lrch1
|
APN |
14 |
75,032,813 (GRCm39) |
splice site |
probably benign |
|
|
IGL02036:Lrch1
|
APN |
14 |
75,032,733 (GRCm39) |
splice site |
probably benign |
|
|
IGL02650:Lrch1
|
APN |
14 |
75,051,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03006:Lrch1
|
APN |
14 |
75,051,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03106:Lrch1
|
APN |
14 |
75,073,202 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03353:Lrch1
|
APN |
14 |
75,095,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Lrch1
|
UTSW |
14 |
75,057,005 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
LCD18:Lrch1
|
UTSW |
14 |
75,142,461 (GRCm39) |
intron |
probably benign |
|
|
R0129:Lrch1
|
UTSW |
14 |
75,073,186 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0312:Lrch1
|
UTSW |
14 |
75,185,034 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0441:Lrch1
|
UTSW |
14 |
75,184,985 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0622:Lrch1
|
UTSW |
14 |
75,033,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1418:Lrch1
|
UTSW |
14 |
75,041,709 (GRCm39) |
splice site |
probably benign |
|
|
R1618:Lrch1
|
UTSW |
14 |
75,051,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Lrch1
|
UTSW |
14 |
75,022,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2428:Lrch1
|
UTSW |
14 |
75,044,985 (GRCm39) |
splice site |
probably benign |
|
|
R3707:Lrch1
|
UTSW |
14 |
75,095,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4352:Lrch1
|
UTSW |
14 |
75,056,018 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5689:Lrch1
|
UTSW |
14 |
75,023,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5754:Lrch1
|
UTSW |
14 |
75,054,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6142:Lrch1
|
UTSW |
14 |
75,184,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6469:Lrch1
|
UTSW |
14 |
75,054,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6740:Lrch1
|
UTSW |
14 |
75,049,063 (GRCm39) |
missense |
probably benign |
|
|
R6871:Lrch1
|
UTSW |
14 |
75,049,063 (GRCm39) |
missense |
probably benign |
|
|
R7051:Lrch1
|
UTSW |
14 |
75,022,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7438:Lrch1
|
UTSW |
14 |
74,994,477 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7509:Lrch1
|
UTSW |
14 |
75,185,048 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8262:Lrch1
|
UTSW |
14 |
75,055,935 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8302:Lrch1
|
UTSW |
14 |
75,032,772 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8943:Lrch1
|
UTSW |
14 |
75,032,808 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9427:Lrch1
|
UTSW |
14 |
75,032,787 (GRCm39) |
missense |
probably benign |
|
|
RF002:Lrch1
|
UTSW |
14 |
75,185,014 (GRCm39) |
small deletion |
probably benign |
|
|
RF009:Lrch1
|
UTSW |
14 |
75,185,014 (GRCm39) |
small deletion |
probably benign |
|
|
RF018:Lrch1
|
UTSW |
14 |
75,184,995 (GRCm39) |
frame shift |
probably null |
|
|
RF022:Lrch1
|
UTSW |
14 |
75,185,014 (GRCm39) |
small deletion |
probably benign |
|
|
RF023:Lrch1
|
UTSW |
14 |
75,185,006 (GRCm39) |
frame shift |
probably null |
|
|
RF037:Lrch1
|
UTSW |
14 |
75,184,989 (GRCm39) |
small deletion |
probably benign |
|
|
RF039:Lrch1
|
UTSW |
14 |
75,184,989 (GRCm39) |
small deletion |
probably benign |
|
|
RF043:Lrch1
|
UTSW |
14 |
75,185,015 (GRCm39) |
frame shift |
probably null |
|
|
RF061:Lrch1
|
UTSW |
14 |
75,185,007 (GRCm39) |
frame shift |
probably null |
|
|
RF061:Lrch1
|
UTSW |
14 |
75,184,995 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGAAACTGGGATGGTGC -3'
(R):5'- TTCTGCAGTGCACACAACCC -3'
Sequencing Primer
(F):5'- CTGGGATGGTGCGCAAG -3'
(R):5'- AGGAGACCTGTGTCCCTTAGAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation