Incidental Mutation 'IGL01988:Lrch1'
| ID |
182015 |
| 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 # |
IGL01988
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
74992115-75185316 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 75032813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088970]
[ENSMUST00000228252]
|
| AlphaFold |
P62046 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088970
|
| SMART Domains |
Protein: ENSMUSP00000086363
Gene: ENSMUSG00000068015
| 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: ENSMUST00000226799
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228134
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228252
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230381
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
A |
10: 29,101,107 (GRCm39) |
S493R |
probably benign |
Het |
| Abca17 |
T |
C |
17: 24,553,229 (GRCm39) |
N161D |
probably damaging |
Het |
| Ace2 |
C |
A |
X: 162,946,988 (GRCm39) |
N290K |
possibly damaging |
Het |
| Adam26a |
G |
A |
8: 44,022,207 (GRCm39) |
P428S |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,705,428 (GRCm39) |
R1461G |
probably damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,305,672 (GRCm39) |
|
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,792,006 (GRCm39) |
V334A |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,683,891 (GRCm39) |
Y408C |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,229,922 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
A |
1: 171,945,831 (GRCm39) |
N931K |
probably benign |
Het |
| Cr1l |
A |
G |
1: 194,799,858 (GRCm39) |
M272T |
probably damaging |
Het |
| Dcaf12 |
T |
C |
4: 41,298,299 (GRCm39) |
N283S |
probably benign |
Het |
| Dnttip2 |
T |
A |
3: 122,069,944 (GRCm39) |
S386R |
probably benign |
Het |
| Fbll1 |
G |
T |
11: 35,688,728 (GRCm39) |
D178E |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,910,197 (GRCm39) |
|
probably benign |
Het |
| Fyn |
T |
A |
10: 39,409,917 (GRCm39) |
L408* |
probably null |
Het |
| Gkn2 |
T |
C |
6: 87,356,257 (GRCm39) |
V176A |
probably benign |
Het |
| Gm10764 |
G |
A |
10: 87,126,953 (GRCm39) |
C120Y |
unknown |
Het |
| Gpr19 |
A |
T |
6: 134,846,247 (GRCm39) |
F442I |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,395,357 (GRCm39) |
|
probably benign |
Het |
| Il7 |
A |
G |
3: 7,669,126 (GRCm39) |
Y37H |
possibly damaging |
Het |
| Kcnj3 |
G |
A |
2: 55,327,243 (GRCm39) |
D11N |
probably benign |
Het |
| Kif1c |
A |
G |
11: 70,595,762 (GRCm39) |
D156G |
probably damaging |
Het |
| Nedd1 |
G |
T |
10: 92,550,021 (GRCm39) |
T88K |
probably benign |
Het |
| Nlrc3 |
T |
G |
16: 3,771,803 (GRCm39) |
S875R |
probably benign |
Het |
| Optc |
A |
G |
1: 133,834,667 (GRCm39) |
|
probably null |
Het |
| Or4a78 |
T |
A |
2: 89,497,424 (GRCm39) |
I269F |
probably benign |
Het |
| Pcdh17 |
T |
A |
14: 84,684,062 (GRCm39) |
D176E |
probably damaging |
Het |
| Pde1b |
A |
G |
15: 103,433,283 (GRCm39) |
|
probably null |
Het |
| Phf11a |
A |
T |
14: 59,514,807 (GRCm39) |
D291E |
probably damaging |
Het |
| Slc30a8 |
A |
T |
15: 52,198,601 (GRCm39) |
I349L |
probably benign |
Het |
| Spty2d1 |
T |
A |
7: 46,647,358 (GRCm39) |
S524C |
probably damaging |
Het |
| Syndig1 |
T |
C |
2: 149,845,090 (GRCm39) |
|
probably benign |
Het |
| Syvn1 |
G |
A |
19: 6,102,437 (GRCm39) |
A502T |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,918,078 (GRCm39) |
L1894P |
probably damaging |
Het |
| Tmem176a |
T |
A |
6: 48,819,554 (GRCm39) |
V11E |
possibly damaging |
Het |
| Tpr |
G |
T |
1: 150,302,750 (GRCm39) |
|
probably null |
Het |
| Txnrd2 |
T |
C |
16: 18,274,768 (GRCm39) |
|
probably benign |
Het |
| Ubqln3 |
G |
A |
7: 103,792,089 (GRCm39) |
|
probably benign |
Het |
| Vmn1r6 |
C |
T |
6: 56,979,650 (GRCm39) |
T82I |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,798,437 (GRCm39) |
E1990K |
possibly damaging |
Het |
| Zdhhc7 |
T |
C |
8: 120,809,329 (GRCm39) |
R293G |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,759,037 (GRCm39) |
L148* |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation