Incidental Mutation 'R9459:Lrch3'
| ID |
714779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrch3
|
| Ensembl Gene |
ENSMUSG00000022801 |
| Gene Name |
leucine-rich repeats and calponin homology (CH) domain containing 3 |
| Synonyms |
LOC385628, 2210409B11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R9459 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
32734470-32836017 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32799775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 371
(D371V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023491
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023491]
[ENSMUST00000135193]
[ENSMUST00000165616]
[ENSMUST00000165826]
[ENSMUST00000170201]
[ENSMUST00000170899]
|
| AlphaFold |
Q8BVU0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023491
AA Change: D371V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023491
Gene: ENSMUSG00000022801
AA Change: D371V
| 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 |
possibly damaging
Transcript: ENSMUST00000135193
AA Change: D371V
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130708
Gene: ENSMUSG00000022801
AA Change: D371V
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000133034
Gene: ENSMUSG00000022801
AA Change: D3V
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165616
AA Change: D245V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130009
Gene: ENSMUSG00000022801
AA Change: D245V
| 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: ENSMUST00000165826
|
| SMART Domains |
Protein: ENSMUSP00000126308
Gene: ENSMUSG00000022801
| 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 damaging
Transcript: ENSMUST00000170201
AA Change: D371V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126964
Gene: ENSMUSG00000022801
AA Change: D371V
| 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 damaging
Transcript: ENSMUST00000170899
AA Change: D371V
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127547
Gene: ENSMUSG00000022801
AA Change: D371V
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,735,414 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
A |
6: 85,604,946 (GRCm39) |
C2199S |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,189,468 (GRCm39) |
I390V |
probably benign |
Het |
| Ap3b2 |
T |
C |
7: 81,123,651 (GRCm39) |
N400S |
probably benign |
Het |
| Baalc |
A |
T |
15: 38,797,419 (GRCm39) |
N70I |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,464,094 (GRCm39) |
V1286D |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,234,470 (GRCm39) |
R81G |
possibly damaging |
Het |
| Cd209g |
T |
C |
8: 4,185,610 (GRCm39) |
S15P |
probably benign |
Het |
| Chrnb3 |
G |
A |
8: 27,883,884 (GRCm39) |
W207* |
probably null |
Het |
| Cmpk2 |
C |
T |
12: 26,528,022 (GRCm39) |
T413M |
probably damaging |
Het |
| Coq4 |
T |
A |
2: 29,678,562 (GRCm39) |
Y63N |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,148,117 (GRCm39) |
S1478T |
probably damaging |
Het |
| Etf1 |
A |
G |
18: 35,039,134 (GRCm39) |
F378L |
probably benign |
Het |
| Exoc6 |
T |
C |
19: 37,574,341 (GRCm39) |
V324A |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,560,907 (GRCm39) |
L1200P |
probably benign |
Het |
| Gadl1 |
T |
C |
9: 115,794,679 (GRCm39) |
W285R |
probably damaging |
Het |
| Gbp3 |
A |
G |
3: 142,270,707 (GRCm39) |
|
probably null |
Het |
| Gm14295 |
C |
T |
2: 176,499,165 (GRCm39) |
T5I |
possibly damaging |
Het |
| Hps4 |
T |
C |
5: 112,522,875 (GRCm39) |
S578P |
probably benign |
Het |
| Kctd13 |
T |
A |
7: 126,544,254 (GRCm39) |
D317E |
probably damaging |
Het |
| Kdm4b |
T |
A |
17: 56,706,509 (GRCm39) |
D881E |
probably benign |
Het |
| Klf10 |
G |
A |
15: 38,296,171 (GRCm39) |
P473L |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 87,985,758 (GRCm39) |
S112P |
possibly damaging |
Het |
| Msh3 |
A |
G |
13: 92,352,047 (GRCm39) |
V1036A |
possibly damaging |
Het |
| Mybl1 |
A |
G |
1: 9,746,484 (GRCm39) |
V392A |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,722,380 (GRCm39) |
I1182V |
possibly damaging |
Het |
| Nectin1 |
A |
C |
9: 43,715,090 (GRCm39) |
E442A |
probably benign |
Het |
| Nscme3l |
T |
A |
19: 5,553,757 (GRCm39) |
H8L |
probably benign |
Het |
| Obsl1 |
G |
T |
1: 75,474,884 (GRCm39) |
H839N |
probably benign |
Het |
| Or4c105 |
T |
C |
2: 88,647,967 (GRCm39) |
F151L |
probably benign |
Het |
| Or9i1b |
T |
C |
19: 13,896,674 (GRCm39) |
C97R |
possibly damaging |
Het |
| Pacs1 |
C |
T |
19: 5,195,098 (GRCm39) |
|
probably null |
Het |
| Pcdh17 |
G |
T |
14: 84,686,063 (GRCm39) |
E843D |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,228,572 (GRCm39) |
L1531P |
probably damaging |
Het |
| Pdgfra |
A |
G |
5: 75,353,129 (GRCm39) |
D973G |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,614,800 (GRCm39) |
Y214C |
probably damaging |
Het |
| Plcb1 |
T |
C |
2: 135,164,558 (GRCm39) |
Y427H |
probably benign |
Het |
| Ppm1h |
A |
G |
10: 122,743,482 (GRCm39) |
N402S |
possibly damaging |
Het |
| Rassf4 |
T |
A |
6: 116,618,749 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
G |
A |
7: 28,768,068 (GRCm39) |
T2856I |
probably damaging |
Het |
| Serpinb8 |
A |
T |
1: 107,533,520 (GRCm39) |
K192* |
probably null |
Het |
| Slfn14 |
T |
G |
11: 83,170,198 (GRCm39) |
Q482P |
possibly damaging |
Het |
| Spata2 |
A |
G |
2: 167,327,205 (GRCm39) |
V64A |
probably benign |
Het |
| Tax1bp1 |
T |
G |
6: 52,706,314 (GRCm39) |
V105G |
probably damaging |
Het |
| Tbc1d22a |
T |
G |
15: 86,120,021 (GRCm39) |
S142A |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,992,007 (GRCm39) |
F594S |
probably damaging |
Het |
| Uba3 |
T |
C |
6: 97,166,559 (GRCm39) |
I281V |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,286,595 (GRCm39) |
E723G |
probably benign |
Het |
| Usp20 |
C |
T |
2: 30,901,024 (GRCm39) |
S391F |
probably damaging |
Het |
| Usp24 |
T |
A |
4: 106,199,555 (GRCm39) |
D166E |
probably damaging |
Het |
| Vmn1r1 |
A |
G |
1: 181,985,503 (GRCm39) |
V54A |
probably benign |
Het |
| Zfp442 |
T |
A |
2: 150,250,668 (GRCm39) |
E411D |
unknown |
Het |
| Zfp804a |
T |
C |
2: 82,089,753 (GRCm39) |
I1194T |
probably 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 |
|
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 |
|
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 |
|
R9710:Lrch3
|
UTSW |
16 |
32,796,108 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Lrch3
|
UTSW |
16 |
32,734,686 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGGTGTATACTTCAGTGGC -3'
(R):5'- TACCATCACCAACTGTTCTCAG -3'
Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- TGTTCTCAGTCTAGAAAGGGTAAAAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation