Incidental Mutation 'IGL01137:Lrch1'
ID |
52722 |
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 # |
IGL01137
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
74992115-75185316 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 74994532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 691
(V691M)
|
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: V691M
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000086363 Gene: ENSMUSG00000068015 AA Change: V691M
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: V664M
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
C |
A |
15: 94,292,492 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
T |
C |
8: 123,611,075 (GRCm39) |
T2583A |
probably damaging |
Het |
Anxa7 |
G |
A |
14: 20,506,648 (GRCm39) |
Q431* |
probably null |
Het |
Asb15 |
T |
A |
6: 24,556,521 (GRCm39) |
D5E |
probably benign |
Het |
Bex1 |
C |
A |
X: 135,115,243 (GRCm39) |
D29Y |
probably damaging |
Het |
Cadm2 |
G |
A |
16: 66,612,238 (GRCm39) |
T108I |
probably damaging |
Het |
Cecr2 |
T |
G |
6: 120,738,989 (GRCm39) |
L1211V |
probably damaging |
Het |
Cntn2 |
T |
C |
1: 132,449,035 (GRCm39) |
|
probably benign |
Het |
Ctrc |
C |
A |
4: 141,566,065 (GRCm39) |
V198L |
possibly damaging |
Het |
Cyp2g1 |
A |
G |
7: 26,513,684 (GRCm39) |
S208G |
possibly damaging |
Het |
Ddx46 |
T |
A |
13: 55,817,530 (GRCm39) |
Y718* |
probably null |
Het |
Dlec1 |
T |
C |
9: 118,966,379 (GRCm39) |
I1116T |
probably damaging |
Het |
Dnajc13 |
A |
G |
9: 104,037,689 (GRCm39) |
Y2177H |
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,919,486 (GRCm39) |
F661S |
probably damaging |
Het |
Dpy19l2 |
G |
A |
9: 24,569,858 (GRCm39) |
T365I |
possibly damaging |
Het |
Flot2 |
T |
C |
11: 77,940,333 (GRCm39) |
Y27H |
probably damaging |
Het |
Gsta4 |
T |
C |
9: 78,113,204 (GRCm39) |
Y95H |
possibly damaging |
Het |
Kir3dl1 |
A |
G |
X: 135,427,360 (GRCm39) |
T192A |
probably damaging |
Het |
Llgl1 |
T |
A |
11: 60,600,825 (GRCm39) |
N640K |
probably benign |
Het |
Myh9 |
T |
C |
15: 77,653,742 (GRCm39) |
D1302G |
probably benign |
Het |
Myo18a |
T |
G |
11: 77,718,655 (GRCm39) |
F935V |
probably damaging |
Het |
Mypn |
T |
C |
10: 62,988,633 (GRCm39) |
E464G |
probably benign |
Het |
Or52l1 |
A |
G |
7: 104,829,695 (GRCm39) |
V290A |
probably benign |
Het |
Or5ac25 |
A |
C |
16: 59,182,335 (GRCm39) |
M82R |
probably benign |
Het |
Or5b101 |
A |
T |
19: 13,005,394 (GRCm39) |
F100I |
possibly damaging |
Het |
Or8k38 |
A |
T |
2: 86,488,055 (GRCm39) |
I249N |
possibly damaging |
Het |
R3hdm1 |
C |
T |
1: 128,109,612 (GRCm39) |
R39C |
probably damaging |
Het |
Rps3a3 |
A |
T |
13: 108,807,666 (GRCm39) |
|
probably benign |
Het |
Sec24b |
C |
T |
3: 129,801,093 (GRCm39) |
S401N |
probably benign |
Het |
Slc22a22 |
C |
A |
15: 57,117,674 (GRCm39) |
G289V |
probably damaging |
Het |
Stk33 |
T |
C |
7: 108,928,775 (GRCm39) |
I246V |
probably benign |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Timmdc1 |
A |
T |
16: 38,338,747 (GRCm39) |
H114Q |
probably benign |
Het |
Tlcd2 |
T |
C |
11: 75,360,337 (GRCm39) |
Y127H |
probably damaging |
Het |
Tnfrsf11a |
G |
A |
1: 105,737,147 (GRCm39) |
D85N |
possibly damaging |
Het |
Trbc2 |
T |
C |
6: 41,524,751 (GRCm39) |
|
probably benign |
Het |
Unc13b |
G |
A |
4: 43,091,291 (GRCm39) |
R39H |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,341,087 (GRCm39) |
L1521P |
probably damaging |
Het |
Zbtb17 |
T |
A |
4: 141,193,678 (GRCm39) |
C607* |
probably null |
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 |
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 |
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 |
2013-06-21 |