Incidental Mutation 'IGL02565:Lrch3'
ID |
298791 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrch3
|
Ensembl Gene |
ENSMUSG00000022801 |
Gene Name |
leucine-rich repeats and calponin homology (CH) domain containing 3 |
Synonyms |
LOC385628, 2210409B11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
IGL02565
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
32734470-32836017 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32826084 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 634
(D634E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023491]
[ENSMUST00000135193]
[ENSMUST00000165616]
[ENSMUST00000170201]
[ENSMUST00000170899]
|
AlphaFold |
Q8BVU0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023491
AA Change: D720E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000023491 Gene: ENSMUSG00000022801 AA Change: D720E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
LRR
|
104 |
126 |
2.54e1 |
SMART |
LRR
|
127 |
150 |
2.86e-1 |
SMART |
LRR
|
172 |
194 |
4.44e0 |
SMART |
LRR
|
195 |
218 |
4.33e1 |
SMART |
LRR
|
240 |
263 |
2.76e1 |
SMART |
low complexity region
|
482 |
493 |
N/A |
INTRINSIC |
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
CH
|
651 |
754 |
9.24e-15 |
SMART |
low complexity region
|
759 |
774 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000093713
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000105610
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135193
AA Change: D720E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000130708 Gene: ENSMUSG00000022801 AA Change: D720E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
LRR
|
104 |
126 |
2.54e1 |
SMART |
LRR
|
127 |
150 |
2.86e-1 |
SMART |
LRR
|
172 |
194 |
4.44e0 |
SMART |
LRR
|
195 |
218 |
4.33e1 |
SMART |
LRR
|
240 |
263 |
2.76e1 |
SMART |
low complexity region
|
482 |
493 |
N/A |
INTRINSIC |
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
CH
|
651 |
755 |
6.79e-13 |
SMART |
transmembrane domain
|
771 |
793 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165616
AA Change: D566E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000130009 Gene: ENSMUSG00000022801 AA Change: D566E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
Blast:LRR
|
89 |
113 |
1e-6 |
BLAST |
Blast:LRR
|
114 |
137 |
3e-7 |
BLAST |
low complexity region
|
328 |
339 |
N/A |
INTRINSIC |
low complexity region
|
385 |
400 |
N/A |
INTRINSIC |
CH
|
497 |
600 |
9.24e-15 |
SMART |
low complexity region
|
605 |
620 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170201
AA Change: D684E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000126964 Gene: ENSMUSG00000022801 AA Change: D684E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
LRR
|
104 |
126 |
2.54e1 |
SMART |
LRR
|
127 |
150 |
2.86e-1 |
SMART |
LRR
|
172 |
194 |
4.44e0 |
SMART |
LRR
|
195 |
218 |
4.33e1 |
SMART |
LRR
|
240 |
263 |
2.76e1 |
SMART |
low complexity region
|
482 |
493 |
N/A |
INTRINSIC |
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
CH
|
615 |
718 |
9.24e-15 |
SMART |
low complexity region
|
723 |
738 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170899
AA Change: D634E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000127547 Gene: ENSMUSG00000022801 AA Change: D634E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
LRR
|
104 |
126 |
2.54e1 |
SMART |
LRR
|
127 |
150 |
2.86e-1 |
SMART |
LRR
|
172 |
194 |
4.44e0 |
SMART |
LRR
|
195 |
218 |
4.33e1 |
SMART |
LRR
|
240 |
263 |
2.76e1 |
SMART |
low complexity region
|
489 |
504 |
N/A |
INTRINSIC |
CH
|
565 |
668 |
9.24e-15 |
SMART |
low complexity region
|
673 |
688 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921511C20Rik |
T |
A |
X: 126,302,677 (GRCm39) |
S205R |
probably benign |
Het |
Adora3 |
A |
G |
3: 105,815,128 (GRCm39) |
T293A |
probably benign |
Het |
App |
T |
C |
16: 84,822,308 (GRCm39) |
|
probably null |
Het |
Asap1 |
A |
G |
15: 64,001,014 (GRCm39) |
|
probably benign |
Het |
Brinp3 |
T |
A |
1: 146,777,770 (GRCm39) |
V739E |
probably damaging |
Het |
Bsn |
A |
G |
9: 107,990,487 (GRCm39) |
V1755A |
probably damaging |
Het |
Clmp |
A |
C |
9: 40,683,711 (GRCm39) |
D147A |
probably damaging |
Het |
Cntn5 |
A |
T |
9: 10,145,343 (GRCm39) |
C122* |
probably null |
Het |
Ctsb |
T |
G |
14: 63,375,859 (GRCm39) |
C198G |
probably null |
Het |
Cyld |
A |
T |
8: 89,467,919 (GRCm39) |
R702S |
probably damaging |
Het |
Cyp4v3 |
A |
G |
8: 45,773,674 (GRCm39) |
V165A |
possibly damaging |
Het |
Dpy19l4 |
C |
A |
4: 11,309,440 (GRCm39) |
V59F |
probably benign |
Het |
Eml1 |
A |
T |
12: 108,472,779 (GRCm39) |
T196S |
probably damaging |
Het |
Fam111a |
T |
A |
19: 12,564,318 (GRCm39) |
D22E |
probably damaging |
Het |
Gigyf2 |
A |
G |
1: 87,369,858 (GRCm39) |
H1150R |
probably damaging |
Het |
Grk5 |
T |
G |
19: 61,057,809 (GRCm39) |
F170V |
probably damaging |
Het |
Heatr5a |
A |
C |
12: 51,997,882 (GRCm39) |
V339G |
possibly damaging |
Het |
Hgd |
T |
A |
16: 37,435,749 (GRCm39) |
D153E |
possibly damaging |
Het |
Ift70b |
A |
G |
2: 75,768,247 (GRCm39) |
Y169H |
probably benign |
Het |
Igdcc3 |
T |
A |
9: 65,087,470 (GRCm39) |
L336Q |
probably damaging |
Het |
Jph2 |
T |
C |
2: 163,239,265 (GRCm39) |
E61G |
probably damaging |
Het |
Ktn1 |
A |
T |
14: 47,910,391 (GRCm39) |
|
probably benign |
Het |
Marchf6 |
T |
C |
15: 31,490,712 (GRCm39) |
|
probably benign |
Het |
Misp |
T |
A |
10: 79,662,177 (GRCm39) |
I198N |
probably benign |
Het |
Mmp14 |
C |
T |
14: 54,678,014 (GRCm39) |
P545L |
probably benign |
Het |
Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
Muc5b |
T |
C |
7: 141,411,604 (GRCm39) |
S1517P |
unknown |
Het |
Nae1 |
A |
T |
8: 105,237,841 (GRCm39) |
N518K |
probably damaging |
Het |
Pglyrp4 |
A |
T |
3: 90,642,794 (GRCm39) |
D225V |
probably benign |
Het |
Pgpep1 |
A |
G |
8: 71,105,119 (GRCm39) |
I47T |
probably damaging |
Het |
Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
Pitpnc1 |
G |
A |
11: 107,187,059 (GRCm39) |
T88I |
probably damaging |
Het |
Poldip2 |
T |
C |
11: 78,408,678 (GRCm39) |
I181T |
probably damaging |
Het |
Ppfia2 |
T |
C |
10: 106,699,247 (GRCm39) |
|
probably null |
Het |
Rasal1 |
A |
G |
5: 120,814,845 (GRCm39) |
|
probably benign |
Het |
Rbms1 |
A |
G |
2: 60,590,123 (GRCm39) |
Y305H |
probably benign |
Het |
Rnf123 |
A |
C |
9: 107,929,411 (GRCm39) |
|
probably null |
Het |
Sec14l3 |
G |
A |
11: 4,026,237 (GRCm39) |
|
probably benign |
Het |
Slc2a10 |
A |
C |
2: 165,357,000 (GRCm39) |
D220A |
probably damaging |
Het |
Slc38a8 |
T |
C |
8: 120,212,300 (GRCm39) |
T348A |
probably damaging |
Het |
Slc4a5 |
T |
C |
6: 83,276,487 (GRCm39) |
V1104A |
probably benign |
Het |
Snrpe |
T |
C |
1: 133,536,704 (GRCm39) |
|
probably benign |
Het |
Th |
C |
A |
7: 142,453,647 (GRCm39) |
V18F |
probably damaging |
Het |
Ubqln5 |
G |
A |
7: 103,778,279 (GRCm39) |
Q182* |
probably null |
Het |
Unc5c |
T |
C |
3: 141,509,680 (GRCm39) |
V646A |
probably damaging |
Het |
Wasf1 |
A |
G |
10: 40,812,128 (GRCm39) |
N306D |
possibly damaging |
Het |
|
Other mutations in Lrch3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01129:Lrch3
|
APN |
16 |
32,815,335 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01400:Lrch3
|
APN |
16 |
32,799,911 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03076:Lrch3
|
APN |
16 |
32,802,223 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL03103:Lrch3
|
APN |
16 |
32,772,507 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03125:Lrch3
|
APN |
16 |
32,734,647 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL03349:Lrch3
|
APN |
16 |
32,775,694 (GRCm39) |
missense |
probably damaging |
1.00 |
eluted
|
UTSW |
16 |
32,806,377 (GRCm39) |
missense |
probably null |
|
leached
|
UTSW |
16 |
32,779,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R0054:Lrch3
|
UTSW |
16 |
32,816,222 (GRCm39) |
intron |
probably benign |
|
R0123:Lrch3
|
UTSW |
16 |
32,782,124 (GRCm39) |
splice site |
probably benign |
|
R0225:Lrch3
|
UTSW |
16 |
32,782,124 (GRCm39) |
splice site |
probably benign |
|
R0326:Lrch3
|
UTSW |
16 |
32,799,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R0455:Lrch3
|
UTSW |
16 |
32,807,250 (GRCm39) |
missense |
probably damaging |
0.99 |
R0734:Lrch3
|
UTSW |
16 |
32,817,853 (GRCm39) |
nonsense |
probably null |
|
R1204:Lrch3
|
UTSW |
16 |
32,829,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R1470:Lrch3
|
UTSW |
16 |
32,808,865 (GRCm39) |
splice site |
probably benign |
|
R1526:Lrch3
|
UTSW |
16 |
32,770,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R1597:Lrch3
|
UTSW |
16 |
32,770,781 (GRCm39) |
nonsense |
probably null |
|
R1850:Lrch3
|
UTSW |
16 |
32,807,163 (GRCm39) |
missense |
probably benign |
0.01 |
R1966:Lrch3
|
UTSW |
16 |
32,734,755 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2241:Lrch3
|
UTSW |
16 |
32,816,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R2313:Lrch3
|
UTSW |
16 |
32,782,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R2902:Lrch3
|
UTSW |
16 |
32,770,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R4723:Lrch3
|
UTSW |
16 |
32,808,854 (GRCm39) |
splice site |
probably null |
|
R4795:Lrch3
|
UTSW |
16 |
32,826,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R4970:Lrch3
|
UTSW |
16 |
32,818,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R5223:Lrch3
|
UTSW |
16 |
32,734,767 (GRCm39) |
missense |
probably damaging |
0.99 |
R5292:Lrch3
|
UTSW |
16 |
32,796,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R5414:Lrch3
|
UTSW |
16 |
32,806,335 (GRCm39) |
splice site |
probably null |
|
R5470:Lrch3
|
UTSW |
16 |
32,818,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R5594:Lrch3
|
UTSW |
16 |
32,734,554 (GRCm39) |
missense |
probably damaging |
0.99 |
R5843:Lrch3
|
UTSW |
16 |
32,818,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R5862:Lrch3
|
UTSW |
16 |
32,816,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R5911:Lrch3
|
UTSW |
16 |
32,779,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R5932:Lrch3
|
UTSW |
16 |
32,796,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R6519:Lrch3
|
UTSW |
16 |
32,815,367 (GRCm39) |
critical splice donor site |
probably benign |
|
R6731:Lrch3
|
UTSW |
16 |
32,770,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R7182:Lrch3
|
UTSW |
16 |
32,814,149 (GRCm39) |
missense |
probably benign |
0.05 |
R7197:Lrch3
|
UTSW |
16 |
32,810,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R7319:Lrch3
|
UTSW |
16 |
32,815,363 (GRCm39) |
missense |
probably benign |
0.19 |
R7392:Lrch3
|
UTSW |
16 |
32,807,125 (GRCm39) |
nonsense |
probably null |
|
R7408:Lrch3
|
UTSW |
16 |
32,807,113 (GRCm39) |
nonsense |
probably null |
|
R7414:Lrch3
|
UTSW |
16 |
32,818,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R7425:Lrch3
|
UTSW |
16 |
32,826,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R7909:Lrch3
|
UTSW |
16 |
32,829,663 (GRCm39) |
missense |
probably benign |
0.00 |
R7956:Lrch3
|
UTSW |
16 |
32,806,377 (GRCm39) |
missense |
probably null |
|
R8009:Lrch3
|
UTSW |
16 |
32,826,083 (GRCm39) |
missense |
possibly damaging |
0.72 |
R8247:Lrch3
|
UTSW |
16 |
32,829,713 (GRCm39) |
nonsense |
probably null |
|
R8408:Lrch3
|
UTSW |
16 |
32,775,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R8686:Lrch3
|
UTSW |
16 |
32,802,223 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8756:Lrch3
|
UTSW |
16 |
32,808,810 (GRCm39) |
missense |
probably benign |
0.33 |
R8947:Lrch3
|
UTSW |
16 |
32,802,199 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9459:Lrch3
|
UTSW |
16 |
32,799,775 (GRCm39) |
missense |
probably damaging |
0.99 |
R9710:Lrch3
|
UTSW |
16 |
32,796,108 (GRCm39) |
nonsense |
probably null |
|
Z1176:Lrch3
|
UTSW |
16 |
32,734,686 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Posted On |
2015-04-16 |