Incidental Mutation 'IGL03006:Lrch1'
| ID |
407537 |
| 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 # |
IGL03006
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
74992115-75185316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75051060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 359
(L359P)
|
| 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: L359P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000086363
Gene: ENSMUSG00000068015
AA Change: L359P
| 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: L359P
PolyPhen 2
Score 0.963 (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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
A |
11: 109,718,671 (GRCm39) |
S21C |
probably damaging |
Het |
| 2210408I21Rik |
T |
C |
13: 77,471,891 (GRCm39) |
|
probably null |
Het |
| Abcc3 |
T |
C |
11: 94,259,421 (GRCm39) |
D340G |
probably benign |
Het |
| Adamts17 |
G |
T |
7: 66,728,095 (GRCm39) |
R879L |
possibly damaging |
Het |
| Adissp |
A |
C |
2: 130,993,634 (GRCm39) |
D22E |
probably damaging |
Het |
| Cacna1f |
C |
A |
X: 7,493,142 (GRCm39) |
T1275K |
probably damaging |
Het |
| Csmd2 |
T |
A |
4: 128,374,558 (GRCm39) |
|
probably benign |
Het |
| Dll1 |
C |
T |
17: 15,593,854 (GRCm39) |
R171Q |
probably benign |
Het |
| Dnm1 |
T |
A |
2: 32,243,133 (GRCm39) |
D30V |
possibly damaging |
Het |
| Fam184a |
G |
A |
10: 53,574,793 (GRCm39) |
S216L |
probably damaging |
Het |
| Fbxo33 |
G |
A |
12: 59,251,105 (GRCm39) |
A470V |
probably benign |
Het |
| Gm6401 |
C |
T |
14: 41,788,851 (GRCm39) |
E73K |
possibly damaging |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,145 (GRCm39) |
S82R |
probably damaging |
Het |
| Klk1b4 |
A |
G |
7: 43,861,019 (GRCm39) |
I221V |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,601,425 (GRCm39) |
|
probably benign |
Het |
| Mapk8ip3 |
T |
C |
17: 25,120,489 (GRCm39) |
T882A |
probably benign |
Het |
| Med12 |
C |
T |
X: 100,321,684 (GRCm39) |
R456W |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,521,253 (GRCm39) |
S267P |
probably damaging |
Het |
| Mtpap |
G |
A |
18: 4,375,721 (GRCm39) |
G34R |
possibly damaging |
Het |
| Nf1 |
G |
A |
11: 79,436,257 (GRCm39) |
D1966N |
probably damaging |
Het |
| Nlrp9c |
G |
A |
7: 26,071,507 (GRCm39) |
T867I |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,335,596 (GRCm39) |
V941I |
probably benign |
Het |
| Or5k1b |
T |
A |
16: 58,581,511 (GRCm39) |
K9N |
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,333,937 (GRCm39) |
I84V |
probably damaging |
Het |
| Polr3d |
T |
A |
14: 70,678,603 (GRCm39) |
|
probably null |
Het |
| Prkar2a |
G |
T |
9: 108,617,640 (GRCm39) |
V233L |
probably benign |
Het |
| Prl4a1 |
T |
C |
13: 28,207,359 (GRCm39) |
V211A |
probably damaging |
Het |
| Qpct |
T |
C |
17: 79,378,151 (GRCm39) |
V107A |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,079,031 (GRCm39) |
S1032P |
possibly damaging |
Het |
| Rims1 |
G |
T |
1: 22,367,178 (GRCm39) |
T1113K |
probably damaging |
Het |
| Rxra |
C |
T |
2: 27,649,657 (GRCm39) |
T454I |
probably damaging |
Het |
| S100z |
T |
C |
13: 95,615,127 (GRCm39) |
I13V |
probably damaging |
Het |
| Scp2 |
T |
C |
4: 107,948,477 (GRCm39) |
K167E |
probably benign |
Het |
| Sephs2 |
A |
G |
7: 126,872,206 (GRCm39) |
F296L |
probably benign |
Het |
| Setd1b |
A |
G |
5: 123,286,514 (GRCm39) |
E520G |
unknown |
Het |
| Slc28a2 |
G |
A |
2: 122,283,019 (GRCm39) |
V308M |
possibly damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,060,873 (GRCm39) |
I451K |
probably benign |
Het |
| Tarbp1 |
C |
T |
8: 127,170,881 (GRCm39) |
D1040N |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,936,323 (GRCm39) |
D1575G |
probably damaging |
Het |
| Tll1 |
T |
A |
8: 64,527,251 (GRCm39) |
|
probably benign |
Het |
| Tsks |
A |
T |
7: 44,600,198 (GRCm39) |
|
probably benign |
Het |
| Ttc1 |
A |
T |
11: 43,636,147 (GRCm39) |
M32K |
probably benign |
Het |
| Txlnb |
C |
T |
10: 17,714,723 (GRCm39) |
A385V |
probably damaging |
Het |
| Zc4h2 |
T |
C |
X: 94,687,019 (GRCm39) |
H98R |
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 |
|
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 |
2016-08-02 |
Incidental Mutation