Incidental Mutation 'IGL02650:Lrch1'
| ID |
302101 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrch1
|
| Ensembl Gene |
ENSMUSG00000068015 |
| Gene Name |
leucine-rich repeats and calponin homology (CH) domain containing 1 |
| Synonyms |
4832412D13Rik, Chdc1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02650
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
74992115-75185316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75051138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 333
(D333G)
|
| 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: D333G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086363
Gene: ENSMUSG00000068015
AA Change: D333G
| 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 |
noncoding transcript
Transcript: ENSMUST00000228134
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228252
AA Change: D333G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,571,881 (GRCm39) |
T586A |
probably benign |
Het |
| Acads |
G |
T |
5: 115,250,874 (GRCm39) |
T141N |
probably benign |
Het |
| Ankmy1 |
C |
T |
1: 92,808,745 (GRCm39) |
R721H |
probably damaging |
Het |
| Appl1 |
A |
G |
14: 26,672,665 (GRCm39) |
V236A |
possibly damaging |
Het |
| Arhgef5 |
C |
T |
6: 43,249,869 (GRCm39) |
Q207* |
probably null |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Atp6v0a2 |
G |
T |
5: 124,789,426 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
T |
C |
1: 189,384,670 (GRCm39) |
K2537E |
possibly damaging |
Het |
| Cox7a1 |
A |
T |
7: 29,884,562 (GRCm39) |
E32V |
possibly damaging |
Het |
| Dis3 |
A |
T |
14: 99,336,221 (GRCm39) |
M95K |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,289,193 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
| Dynlt5 |
C |
A |
4: 102,845,803 (GRCm39) |
Q12K |
probably benign |
Het |
| Ghsr |
A |
T |
3: 27,429,004 (GRCm39) |
Q343L |
probably benign |
Het |
| Gm3252 |
T |
A |
14: 4,746,353 (GRCm38) |
V215E |
probably damaging |
Het |
| Gm9979 |
A |
G |
13: 40,859,225 (GRCm39) |
|
noncoding transcript |
Het |
| Grik2 |
A |
T |
10: 48,977,331 (GRCm39) |
M867K |
probably benign |
Het |
| Grm7 |
A |
G |
6: 111,335,919 (GRCm39) |
T777A |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,890,886 (GRCm39) |
Q1310L |
possibly damaging |
Het |
| Ifi44 |
A |
G |
3: 151,451,492 (GRCm39) |
F205L |
probably damaging |
Het |
| Igkv4-86 |
T |
C |
6: 68,887,617 (GRCm39) |
I40V |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,957,505 (GRCm39) |
D69G |
possibly damaging |
Het |
| Mapre3 |
T |
A |
5: 31,022,053 (GRCm39) |
I187N |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,777,337 (GRCm39) |
|
probably null |
Het |
| Nanos2 |
C |
T |
7: 18,721,794 (GRCm39) |
P89S |
probably damaging |
Het |
| Or4c109 |
T |
A |
2: 88,818,424 (GRCm39) |
M41L |
probably benign |
Het |
| Parp16 |
G |
A |
9: 65,141,098 (GRCm39) |
V223I |
probably damaging |
Het |
| Rnf123 |
A |
G |
9: 107,946,947 (GRCm39) |
M231T |
probably benign |
Het |
| Suco |
C |
A |
1: 161,676,322 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
G |
T |
16: 90,773,584 (GRCm39) |
T459N |
probably benign |
Het |
| Taf4b |
C |
T |
18: 14,975,040 (GRCm39) |
Q732* |
probably null |
Het |
| Tas2r102 |
A |
G |
6: 132,739,173 (GRCm39) |
N27S |
probably null |
Het |
| Tll1 |
C |
T |
8: 64,500,031 (GRCm39) |
|
probably benign |
Het |
| Vmn1r168 |
A |
G |
7: 23,240,916 (GRCm39) |
I258V |
probably benign |
Het |
| Vmn2r71 |
T |
A |
7: 85,273,535 (GRCm39) |
M783K |
probably damaging |
Het |
| Vmn2r98 |
G |
A |
17: 19,301,223 (GRCm39) |
V742I |
probably benign |
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 |
|
|
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 |
|
R8037:Lrch1
|
UTSW |
14 |
75,023,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation