Incidental Mutation 'R8943:Lrch1'
ID |
681119 |
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 |
068782-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8943 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
74992115-75185316 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 75032808 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 514
(I514K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154004
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088970]
[ENSMUST00000228252]
|
AlphaFold |
P62046 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088970
AA Change: I514K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000086363 Gene: ENSMUSG00000068015 AA Change: I514K
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 |
probably benign
Transcript: ENSMUST00000228252
AA Change: I514K
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
98% (50/51) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
C |
7: 41,275,667 (GRCm39) |
S457P |
probably damaging |
Het |
Aak1 |
A |
G |
6: 86,964,234 (GRCm39) |
N945S |
unknown |
Het |
Actr1a |
C |
A |
19: 46,369,438 (GRCm39) |
R192L |
possibly damaging |
Het |
Adgrl2 |
T |
A |
3: 148,534,119 (GRCm39) |
N1036I |
probably damaging |
Het |
Ak5 |
A |
G |
3: 152,361,511 (GRCm39) |
V137A |
probably damaging |
Het |
Aldh1a2 |
T |
C |
9: 71,169,055 (GRCm39) |
V179A |
probably damaging |
Het |
Ap2b1 |
A |
T |
11: 83,237,579 (GRCm39) |
I548F |
probably damaging |
Het |
Arhgef10l |
A |
G |
4: 140,292,550 (GRCm39) |
Y352H |
probably damaging |
Het |
Atad5 |
C |
T |
11: 79,986,524 (GRCm39) |
T537M |
possibly damaging |
Het |
Atoh7 |
A |
G |
10: 62,935,938 (GRCm39) |
K2E |
possibly damaging |
Het |
BC061237 |
A |
G |
14: 44,741,658 (GRCm39) |
I134V |
probably benign |
Het |
Cadm1 |
T |
C |
9: 47,701,136 (GRCm39) |
I141T |
probably damaging |
Het |
Capn10 |
T |
C |
1: 92,871,454 (GRCm39) |
S351P |
probably damaging |
Het |
Cct6b |
T |
C |
11: 82,654,959 (GRCm39) |
|
probably benign |
Het |
Cd19 |
T |
C |
7: 126,011,330 (GRCm39) |
T284A |
probably benign |
Het |
Cfap53 |
A |
G |
18: 74,432,253 (GRCm39) |
Y47C |
probably damaging |
Het |
Cldn18 |
T |
C |
9: 99,578,162 (GRCm39) |
M194V |
probably benign |
Het |
Dgkb |
T |
A |
12: 38,652,777 (GRCm39) |
Y721N |
probably damaging |
Het |
Dmbt1 |
A |
G |
7: 130,721,372 (GRCm39) |
Q1880R |
possibly damaging |
Het |
Dock2 |
T |
C |
11: 34,599,646 (GRCm39) |
N311S |
possibly damaging |
Het |
Dpysl5 |
G |
T |
5: 30,935,375 (GRCm39) |
M159I |
probably benign |
Het |
Eif2b3 |
G |
A |
4: 116,901,778 (GRCm39) |
G147E |
probably damaging |
Het |
Fam193a |
A |
G |
5: 34,597,796 (GRCm39) |
D531G |
probably benign |
Het |
Fndc3b |
T |
C |
3: 27,555,329 (GRCm39) |
|
probably benign |
Het |
Foxe3 |
C |
A |
4: 114,782,523 (GRCm39) |
A230S |
unknown |
Het |
Gm5591 |
A |
T |
7: 38,219,727 (GRCm39) |
V382E |
probably benign |
Het |
Gm7995 |
A |
T |
14: 42,132,228 (GRCm39) |
N21I |
probably damaging |
Het |
Ipo8 |
G |
A |
6: 148,676,547 (GRCm39) |
P981S |
probably benign |
Het |
Kcnh8 |
A |
G |
17: 53,104,486 (GRCm39) |
D161G |
probably benign |
Het |
Krt71 |
A |
G |
15: 101,645,180 (GRCm39) |
I377T |
possibly damaging |
Het |
Krt75 |
A |
T |
15: 101,476,767 (GRCm39) |
M374K |
probably benign |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Lpcat1 |
A |
G |
13: 73,662,029 (GRCm39) |
T409A |
probably benign |
Het |
Mc4r |
A |
C |
18: 66,993,110 (GRCm39) |
M1R |
probably null |
Het |
Mthfd1l |
A |
T |
10: 3,978,466 (GRCm39) |
H442L |
probably damaging |
Het |
Or5d38 |
T |
A |
2: 87,954,718 (GRCm39) |
I204F |
probably damaging |
Het |
Pdcd1lg2 |
T |
C |
19: 29,423,553 (GRCm39) |
M199T |
probably benign |
Het |
Pigg |
G |
A |
5: 108,484,066 (GRCm39) |
V438M |
probably damaging |
Het |
Pira12 |
T |
C |
7: 3,898,365 (GRCm39) |
E319G |
probably benign |
Het |
Ppfibp1 |
T |
A |
6: 146,920,681 (GRCm39) |
|
probably null |
Het |
Rbm15 |
T |
A |
3: 107,239,372 (GRCm39) |
Y342F |
possibly damaging |
Het |
Rhbdl1 |
A |
T |
17: 26,054,116 (GRCm39) |
V278E |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,465,669 (GRCm39) |
N4781S |
probably damaging |
Het |
Scn7a |
A |
T |
2: 66,525,206 (GRCm39) |
|
silent |
Het |
Sfswap |
A |
G |
5: 129,581,168 (GRCm39) |
R114G |
probably damaging |
Het |
Sohlh2 |
C |
A |
3: 55,104,282 (GRCm39) |
A258D |
possibly damaging |
Het |
Sstr4 |
T |
A |
2: 148,237,782 (GRCm39) |
V131D |
possibly damaging |
Het |
Tenm2 |
T |
C |
11: 36,834,861 (GRCm39) |
T45A |
probably damaging |
Het |
Tmem131l |
A |
T |
3: 83,831,479 (GRCm39) |
F818I |
probably damaging |
Het |
Trappc6b |
A |
G |
12: 59,097,149 (GRCm39) |
F58L |
probably damaging |
Het |
Vmn1r229 |
A |
T |
17: 21,035,418 (GRCm39) |
H221L |
possibly damaging |
Het |
Vmn1r33 |
T |
A |
6: 66,588,783 (GRCm39) |
Y257F |
probably damaging |
Het |
Wdfy3 |
T |
C |
5: 101,993,231 (GRCm39) |
|
probably benign |
Het |
Zfp446 |
C |
T |
7: 12,713,564 (GRCm39) |
Q177* |
probably null |
Het |
Zup1 |
A |
G |
10: 33,795,301 (GRCm39) |
*552Q |
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 |
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 |
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'- CCGACTAGAACTGGCAAAGC -3'
(R):5'- GGCTTTGTGTCACTGCAAGATG -3'
Sequencing Primer
(F):5'- TGGCAAAGCTCATATTACTCACG -3'
(R):5'- CACTGCAAGATGATTTTGTAGTGAGC -3'
|
Posted On |
2021-08-31 |