Incidental Mutation 'IGL03349:Lrch3'
| ID |
419598 |
| 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 # |
IGL03349
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
32734470-32836017 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32775694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 187
(T187A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023491
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023491]
[ENSMUST00000135193]
[ENSMUST00000164486]
[ENSMUST00000165616]
[ENSMUST00000170201]
[ENSMUST00000170899]
|
| AlphaFold |
Q8BVU0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023491
AA Change: T187A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023491
Gene: ENSMUSG00000022801
AA Change: T187A
| 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: ENSMUST00000133399
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135193
AA Change: T187A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000130708
Gene: ENSMUSG00000022801
AA Change: T187A
| 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 |
noncoding transcript
Transcript: ENSMUST00000156928
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164486
|
| SMART Domains |
Protein: ENSMUSP00000131416
Gene: ENSMUSG00000022801
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165616
|
| SMART Domains |
Protein: ENSMUSP00000130009
Gene: ENSMUSG00000022801
| 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: T187A
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126964
Gene: ENSMUSG00000022801
AA Change: T187A
| 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: T187A
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000127547
Gene: ENSMUSG00000022801
AA Change: T187A
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,629,455 (GRCm39) |
Y3648H |
probably benign |
Het |
| Akr1c20 |
T |
A |
13: 4,558,249 (GRCm39) |
R172* |
probably null |
Het |
| Apba1 |
A |
T |
19: 23,894,939 (GRCm39) |
E458D |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,308,054 (GRCm39) |
V1590D |
possibly damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,275,489 (GRCm39) |
S332P |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,865,124 (GRCm39) |
F163I |
probably damaging |
Het |
| Azin2 |
A |
T |
4: 128,839,907 (GRCm39) |
Y228* |
probably null |
Het |
| Cd109 |
C |
T |
9: 78,543,767 (GRCm39) |
H104Y |
probably benign |
Het |
| Ces2a |
G |
T |
8: 105,460,712 (GRCm39) |
L3F |
probably damaging |
Het |
| Crebbp |
A |
G |
16: 3,935,222 (GRCm39) |
V889A |
possibly damaging |
Het |
| Crim1 |
A |
T |
17: 78,662,579 (GRCm39) |
K801* |
probably null |
Het |
| Cxcr1 |
T |
C |
1: 74,231,687 (GRCm39) |
T112A |
possibly damaging |
Het |
| Cyp1a2 |
A |
G |
9: 57,587,158 (GRCm39) |
S378P |
possibly damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,632,128 (GRCm39) |
Y80C |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,796,256 (GRCm39) |
W761R |
probably damaging |
Het |
| Dgki |
C |
T |
6: 37,074,562 (GRCm39) |
|
probably null |
Het |
| Dnase1l3 |
T |
C |
14: 7,984,146 (GRCm38) |
T89A |
probably benign |
Het |
| Dock4 |
C |
A |
12: 40,783,309 (GRCm39) |
Q748K |
probably benign |
Het |
| Elmo3 |
A |
G |
8: 106,033,020 (GRCm39) |
E68G |
possibly damaging |
Het |
| Fer1l4 |
C |
A |
2: 155,886,654 (GRCm39) |
E692* |
probably null |
Het |
| Fkbp9 |
T |
A |
6: 56,826,703 (GRCm39) |
M101K |
probably damaging |
Het |
| Grin1 |
C |
A |
2: 25,200,448 (GRCm39) |
V225L |
probably benign |
Het |
| Gucy2d |
T |
C |
7: 98,099,048 (GRCm39) |
V288A |
possibly damaging |
Het |
| Heatr5b |
C |
A |
17: 79,062,749 (GRCm39) |
K1933N |
probably benign |
Het |
| Hsdl1 |
A |
T |
8: 120,292,436 (GRCm39) |
S260T |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,287,833 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
T |
5: 31,441,474 (GRCm39) |
V220E |
probably benign |
Het |
| Igkv12-47 |
C |
T |
6: 69,727,850 (GRCm39) |
|
noncoding transcript |
Het |
| Ism1 |
C |
T |
2: 139,573,895 (GRCm39) |
R82* |
probably null |
Het |
| Ltbr |
T |
A |
6: 125,289,329 (GRCm39) |
D160V |
probably damaging |
Het |
| Lypd11 |
T |
A |
7: 24,422,261 (GRCm39) |
S163C |
probably damaging |
Het |
| Mark3 |
A |
T |
12: 111,594,684 (GRCm39) |
K353I |
probably benign |
Het |
| Mrm3 |
A |
T |
11: 76,140,772 (GRCm39) |
H260L |
probably damaging |
Het |
| Nckap1 |
T |
C |
2: 80,355,904 (GRCm39) |
Q627R |
probably benign |
Het |
| Neb |
T |
A |
2: 52,168,964 (GRCm39) |
Y1857F |
possibly damaging |
Het |
| Ntsr1 |
A |
G |
2: 180,142,295 (GRCm39) |
T29A |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,226,228 (GRCm39) |
G768D |
probably benign |
Het |
| Or5k17 |
T |
C |
16: 58,746,323 (GRCm39) |
M204V |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,179,551 (GRCm39) |
|
probably benign |
Het |
| Pld4 |
A |
T |
12: 112,734,313 (GRCm39) |
Q393L |
probably benign |
Het |
| Prss23 |
T |
C |
7: 89,159,065 (GRCm39) |
I335V |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,100,710 (GRCm39) |
I2071M |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,000,331 (GRCm39) |
V807E |
probably damaging |
Het |
| Rnf20 |
G |
A |
4: 49,655,936 (GRCm39) |
A961T |
probably damaging |
Het |
| Slc25a24 |
A |
G |
3: 109,056,865 (GRCm39) |
Q126R |
possibly damaging |
Het |
| Slc35e1 |
A |
T |
8: 73,237,696 (GRCm39) |
Y382N |
probably damaging |
Het |
| Snrpn |
C |
T |
7: 59,635,613 (GRCm39) |
G129D |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 93,984,335 (GRCm39) |
N386I |
possibly damaging |
Het |
| Ssna1 |
T |
C |
2: 25,161,542 (GRCm39) |
N102D |
possibly damaging |
Het |
| Tex21 |
A |
T |
12: 76,268,365 (GRCm39) |
I139N |
probably benign |
Het |
| Trgc2 |
T |
A |
13: 19,489,346 (GRCm39) |
T129S |
probably benign |
Het |
| Trim21 |
T |
C |
7: 102,212,484 (GRCm39) |
T161A |
probably benign |
Het |
| Vmn2r82 |
T |
A |
10: 79,213,703 (GRCm39) |
H96Q |
probably benign |
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 |
|
IGL02565:Lrch3
|
APN |
16 |
32,826,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation