Incidental Mutation 'IGL01129:Lrch3'
|
List
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|
| ID | 52956 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
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| Gene Symbol |
Lrch3
|
|---|
| Ensembl Gene |
ENSMUSG00000022801 |
|---|
| Gene Name | leucine-rich repeats and calponin homology (CH) domain containing 3 |
|---|
| Synonyms | 2210409B11Rik, LOC385628 |
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| Accession Numbers | |
|---|
| Is this an essential gene? |
Probably non essential (E-score: 0.122)
|
|---|
| Stock # | IGL01129
|
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| Quality Score | |
|---|
| Status |
|
|---|
| Chromosome | 16 |
|---|
| Chromosomal Location | 32914100-33015647 bp(+) (GRCm38) |
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| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to A
at 32994965 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 575
(D575E)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023491
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023491]
[ENSMUST00000135193]
[ENSMUST00000165616]
[ENSMUST00000165826]
[ENSMUST00000170201]
[ENSMUST00000170899]
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023491
AA Change: D575E
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000023491
Gene: ENSMUSG00000022801
AA Change: D575E
| 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: ENSMUST00000105610
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135193
AA Change: D575E
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000130708
Gene: ENSMUSG00000022801
AA Change: D575E
| 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 |
unknown
Transcript: ENSMUST00000142290
AA Change: D123E
|
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| SMART Domains |
Protein: ENSMUSP00000117302
Gene: ENSMUSG00000022801
AA Change: D123E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
103 |
N/A |
INTRINSIC |
|
SCOP:d1h67a_
|
201 |
253 |
1e-11 |
SMART |
|
Blast:CH
|
205 |
253 |
6e-27 |
BLAST |
|
|---|
| Predicted Effect |
unknown
Transcript: ENSMUST00000163428
AA Change: D157E
|
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| SMART Domains |
Protein: ENSMUSP00000133034
Gene: ENSMUSG00000022801
AA Change: D157E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
122 |
137 |
N/A |
INTRINSIC |
|
SCOP:d1h67a_
|
230 |
265 |
9e-5 |
SMART |
|
Blast:CH
|
234 |
265 |
7e-14 |
BLAST |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000165616
AA Change: D421E
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000130009
Gene: ENSMUSG00000022801
AA Change: D421E
| 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 |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000165826
AA Change: D198E
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
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| SMART Domains |
Protein: ENSMUSP00000126308
Gene: ENSMUSG00000022801
AA Change: D198E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
177 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170201
AA Change: D575E
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000126964
Gene: ENSMUSG00000022801
AA Change: D575E
| 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 |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000170899
AA Change: D525E
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
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| SMART Domains |
Protein: ENSMUSP00000127547
Gene: ENSMUSG00000022801
AA Change: D525E
| 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 |
|
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| Coding Region Coverage |
|
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| Validation Efficiency |
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
A |
T |
X: 67,920,604 |
F216L |
possibly damaging |
Het |
| Bace2 |
T |
G |
16: 97,408,430 |
N181K |
probably damaging |
Het |
| Cc2d1a |
G |
T |
8: 84,143,404 |
H161N |
probably benign |
Het |
| Ckap2 |
C |
T |
8: 22,169,758 |
G569D |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 114,185,873 |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,535,846 |
D939N |
unknown |
Het |
| Creb3l2 |
A |
T |
6: 37,353,634 |
|
probably benign |
Het |
| Cuedc1 |
T |
A |
11: 88,183,254 |
S205T |
possibly damaging |
Het |
| Cux1 |
G |
A |
5: 136,304,718 |
|
probably benign |
Het |
| Cyp3a59 |
A |
G |
5: 146,098,279 |
M256V |
probably benign |
Het |
| Gzf1 |
C |
A |
2: 148,690,996 |
P690Q |
probably damaging |
Het |
| Lypd3 |
A |
G |
7: 24,640,593 |
M362V |
probably benign |
Het |
| Mppe1 |
C |
A |
18: 67,237,444 |
G61* |
probably null |
Het |
| Nr2c2 |
T |
A |
6: 92,158,416 |
D328E |
probably benign |
Het |
| Olfr6 |
T |
C |
7: 106,956,427 |
N170D |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,775,505 |
V114E |
probably damaging |
Het |
| Rab14 |
T |
C |
2: 35,183,386 |
|
probably benign |
Het |
| Slc30a9 |
G |
T |
5: 67,342,143 |
G315C |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,896,522 |
S303C |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,913,184 |
|
probably benign |
Het |
| Srcap |
T |
C |
7: 127,521,651 |
V161A |
probably damaging |
Het |
| Srd5a3 |
A |
G |
5: 76,149,746 |
|
probably benign |
Het |
| Vmn1r18 |
A |
T |
6: 57,390,497 |
F24Y |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 12,153,238 |
T259S |
probably benign |
Het |
| Zc3h13 |
G |
A |
14: 75,335,999 |
D1527N |
probably damaging |
Het |
|
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| Other mutations in Lrch3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01400:Lrch3
|
APN |
16 |
32979541 |
missense |
probably damaging |
1.00 |
|
IGL02565:Lrch3
|
APN |
16 |
33005714 |
missense |
probably benign |
0.00 |
|
IGL03076:Lrch3
|
APN |
16 |
32981853 |
missense |
possibly damaging |
0.52 |
|
IGL03103:Lrch3
|
APN |
16 |
32952137 |
missense |
probably damaging |
1.00 |
|
IGL03125:Lrch3
|
APN |
16 |
32914277 |
missense |
possibly damaging |
0.83 |
|
IGL03349:Lrch3
|
APN |
16 |
32955324 |
missense |
probably damaging |
1.00 |
|
eluted
|
UTSW |
16 |
32986007 |
missense |
probably null |
|
|
leached
|
UTSW |
16 |
32959463 |
missense |
probably damaging |
1.00 |
|
R0054:Lrch3
|
UTSW |
16 |
32995852 |
intron |
probably benign |
|
|
R0123:Lrch3
|
UTSW |
16 |
32961754 |
splice site |
probably benign |
|
|
R0225:Lrch3
|
UTSW |
16 |
32961754 |
splice site |
probably benign |
|
|
R0326:Lrch3
|
UTSW |
16 |
32979500 |
missense |
probably damaging |
1.00 |
|
R0455:Lrch3
|
UTSW |
16 |
32986880 |
missense |
probably damaging |
0.99 |
|
R0734:Lrch3
|
UTSW |
16 |
32997483 |
nonsense |
probably null |
|
|
R1204:Lrch3
|
UTSW |
16 |
33009214 |
missense |
probably damaging |
1.00 |
|
R1470:Lrch3
|
UTSW |
16 |
32988495 |
splice site |
probably benign |
|
|
R1526:Lrch3
|
UTSW |
16 |
32950376 |
missense |
probably damaging |
1.00 |
|
R1597:Lrch3
|
UTSW |
16 |
32950411 |
nonsense |
probably null |
|
|
R1850:Lrch3
|
UTSW |
16 |
32986793 |
missense |
probably benign |
0.01 |
|
R1966:Lrch3
|
UTSW |
16 |
32914385 |
missense |
possibly damaging |
0.94 |
|
R2241:Lrch3
|
UTSW |
16 |
32995841 |
missense |
probably damaging |
0.99 |
|
R2313:Lrch3
|
UTSW |
16 |
32961675 |
missense |
probably damaging |
1.00 |
|
R2902:Lrch3
|
UTSW |
16 |
32950396 |
missense |
probably damaging |
1.00 |
|
R4723:Lrch3
|
UTSW |
16 |
32988484 |
splice site |
probably null |
|
|
R4795:Lrch3
|
UTSW |
16 |
33005704 |
missense |
probably damaging |
1.00 |
|
R4970:Lrch3
|
UTSW |
16 |
32998513 |
missense |
probably damaging |
1.00 |
|
R5223:Lrch3
|
UTSW |
16 |
32914397 |
missense |
probably damaging |
0.99 |
|
R5292:Lrch3
|
UTSW |
16 |
32975807 |
missense |
probably damaging |
1.00 |
|
R5414:Lrch3
|
UTSW |
16 |
32985965 |
splice site |
probably null |
|
|
R5470:Lrch3
|
UTSW |
16 |
32998590 |
missense |
probably damaging |
1.00 |
|
R5594:Lrch3
|
UTSW |
16 |
32914184 |
missense |
probably damaging |
0.99 |
|
R5843:Lrch3
|
UTSW |
16 |
32998526 |
missense |
probably damaging |
1.00 |
|
R5862:Lrch3
|
UTSW |
16 |
32995809 |
missense |
probably damaging |
1.00 |
|
R5911:Lrch3
|
UTSW |
16 |
32959463 |
missense |
probably damaging |
1.00 |
|
R5932:Lrch3
|
UTSW |
16 |
32975736 |
missense |
probably damaging |
1.00 |
|
R6519:Lrch3
|
UTSW |
16 |
32994997 |
critical splice donor site |
probably benign |
|
|
R6731:Lrch3
|
UTSW |
16 |
32950420 |
missense |
probably damaging |
1.00 |
|
R7182:Lrch3
|
UTSW |
16 |
32993779 |
missense |
probably benign |
0.05 |
|
R7197:Lrch3
|
UTSW |
16 |
32990295 |
missense |
probably damaging |
1.00 |
|
R7319:Lrch3
|
UTSW |
16 |
32994993 |
missense |
probably benign |
0.19 |
|
R7392:Lrch3
|
UTSW |
16 |
32986755 |
nonsense |
probably null |
|
|
R7408:Lrch3
|
UTSW |
16 |
32986743 |
nonsense |
probably null |
|
|
R7414:Lrch3
|
UTSW |
16 |
32998513 |
missense |
probably damaging |
1.00 |
|
R7425:Lrch3
|
UTSW |
16 |
33005707 |
missense |
probably damaging |
1.00 |
|
R7909:Lrch3
|
UTSW |
16 |
33009293 |
missense |
probably benign |
0.00 |
|
R7956:Lrch3
|
UTSW |
16 |
32986007 |
missense |
probably null |
|
|
R8009:Lrch3
|
UTSW |
16 |
33005713 |
missense |
possibly damaging |
0.72 |
|
R8247:Lrch3
|
UTSW |
16 |
33009343 |
nonsense |
probably null |
|
|
R8408:Lrch3
|
UTSW |
16 |
32955380 |
missense |
probably damaging |
1.00 |
|
Z1176:Lrch3
|
UTSW |
16 |
32914316 |
missense |
possibly damaging |
0.89 |
|
|---|
| Posted On | 2013-06-21 |
|---|
