Incidental Mutation 'R7425:Lrch3'
ID |
576018 |
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 |
045503-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R7425 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
32734470-32836017 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32826077 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 718
(F718S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023491
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023491]
[ENSMUST00000135193]
[ENSMUST00000165616]
[ENSMUST00000170201]
[ENSMUST00000170899]
|
AlphaFold |
Q8BVU0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023491
AA Change: F718S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023491 Gene: ENSMUSG00000022801 AA Change: F718S
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 |
probably damaging
Transcript: ENSMUST00000135193
AA Change: F718S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130708 Gene: ENSMUSG00000022801 AA Change: F718S
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 damaging
Transcript: ENSMUST00000165616
AA Change: F564S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130009 Gene: ENSMUSG00000022801 AA Change: F564S
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 damaging
Transcript: ENSMUST00000170201
AA Change: F682S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126964 Gene: ENSMUSG00000022801 AA Change: F682S
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: F632S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127547 Gene: ENSMUSG00000022801 AA Change: F632S
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,771,456 (GRCm39) |
E215G |
probably benign |
Het |
Adam8 |
T |
A |
7: 139,572,394 (GRCm39) |
|
probably benign |
Het |
Ankrd35 |
A |
G |
3: 96,592,104 (GRCm39) |
S797G |
not run |
Het |
Anxa3 |
T |
A |
5: 96,982,680 (GRCm39) |
H259Q |
probably benign |
Het |
Ap3d1 |
T |
A |
10: 80,557,426 (GRCm39) |
Q302L |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,305,682 (GRCm39) |
V1294A |
probably benign |
Het |
Atp13a5 |
G |
A |
16: 29,116,278 (GRCm39) |
Q613* |
probably null |
Het |
Bltp1 |
T |
A |
3: 37,002,490 (GRCm39) |
H1478Q |
probably benign |
Het |
Bltp1 |
A |
T |
3: 37,037,543 (GRCm39) |
H2448L |
probably benign |
Het |
Bmpr2 |
T |
G |
1: 59,906,510 (GRCm39) |
N534K |
probably benign |
Het |
C1qbp |
T |
C |
11: 70,869,072 (GRCm39) |
|
probably null |
Het |
C1qbp |
G |
T |
11: 70,869,073 (GRCm39) |
|
probably null |
Het |
C1ql3 |
T |
G |
2: 13,015,229 (GRCm39) |
K144Q |
possibly damaging |
Het |
C3 |
T |
C |
17: 57,511,039 (GRCm39) |
M1656V |
possibly damaging |
Het |
Cand1 |
A |
T |
10: 119,052,148 (GRCm39) |
Y252N |
probably benign |
Het |
Capn13 |
T |
C |
17: 73,625,053 (GRCm39) |
I632M |
probably benign |
Het |
Catsperb |
A |
G |
12: 101,557,757 (GRCm39) |
E776G |
probably damaging |
Het |
Ccnl1 |
A |
T |
3: 65,856,179 (GRCm39) |
V242D |
probably damaging |
Het |
Cd68 |
T |
C |
11: 69,555,938 (GRCm39) |
D200G |
probably benign |
Het |
Cela3a |
T |
C |
4: 137,132,899 (GRCm39) |
N118D |
probably benign |
Het |
Celsr2 |
A |
G |
3: 108,309,773 (GRCm39) |
C1609R |
probably damaging |
Het |
Cep85l |
G |
C |
10: 53,177,666 (GRCm39) |
Q458E |
probably damaging |
Het |
Cnga1 |
T |
G |
5: 72,766,868 (GRCm39) |
E190D |
probably benign |
Het |
Cntnap3 |
G |
A |
13: 64,906,066 (GRCm39) |
R847C |
probably damaging |
Het |
Cntrob |
G |
A |
11: 69,205,560 (GRCm39) |
Q425* |
probably null |
Het |
Commd9 |
G |
A |
2: 101,730,245 (GRCm39) |
W128* |
probably null |
Het |
Csnk1a1 |
C |
T |
18: 61,718,330 (GRCm39) |
S352L |
unknown |
Het |
Dact2 |
A |
G |
17: 14,416,593 (GRCm39) |
S536P |
probably damaging |
Het |
Ddx25 |
A |
G |
9: 35,465,882 (GRCm39) |
I113T |
probably benign |
Het |
Dscam |
T |
A |
16: 96,430,598 (GRCm39) |
D1630V |
probably damaging |
Het |
Fndc7 |
A |
C |
3: 108,783,975 (GRCm39) |
F211L |
probably benign |
Het |
Fryl |
T |
C |
5: 73,262,091 (GRCm39) |
T559A |
probably damaging |
Het |
Hpx |
C |
A |
7: 105,241,068 (GRCm39) |
D402Y |
probably damaging |
Het |
Ints13 |
A |
G |
6: 146,476,198 (GRCm39) |
|
probably null |
Het |
Ipcef1 |
T |
C |
10: 6,906,066 (GRCm39) |
K76E |
probably damaging |
Het |
Kcnb2 |
A |
C |
1: 15,780,031 (GRCm39) |
Q301P |
probably damaging |
Het |
Lamp3 |
C |
T |
16: 19,518,362 (GRCm39) |
|
probably null |
Het |
Lmod2 |
A |
T |
6: 24,603,475 (GRCm39) |
H150L |
probably benign |
Het |
Mms22l |
T |
C |
4: 24,596,287 (GRCm39) |
V1082A |
probably benign |
Het |
Nbas |
G |
T |
12: 13,519,881 (GRCm39) |
V1598L |
probably damaging |
Het |
Nrxn3 |
C |
T |
12: 89,479,870 (GRCm39) |
R671* |
probably null |
Het |
Or4c110 |
A |
T |
2: 88,832,544 (GRCm39) |
F29L |
|
Het |
Or4c58 |
A |
G |
2: 89,674,789 (GRCm39) |
L176P |
probably damaging |
Het |
Or52e8 |
A |
T |
7: 104,624,268 (GRCm39) |
L312* |
probably null |
Het |
Or5a3 |
A |
C |
19: 12,400,204 (GRCm39) |
H177P |
probably damaging |
Het |
Or6d14 |
A |
T |
6: 116,533,398 (GRCm39) |
E4V |
possibly damaging |
Het |
Pcdhga6 |
T |
A |
18: 37,841,619 (GRCm39) |
N446K |
probably damaging |
Het |
Phlpp1 |
A |
T |
1: 106,320,303 (GRCm39) |
I1433F |
probably benign |
Het |
Pla2g6 |
G |
A |
15: 79,192,933 (GRCm39) |
R245C |
probably damaging |
Het |
Rgl3 |
G |
A |
9: 21,888,123 (GRCm39) |
Q464* |
probably null |
Het |
Ryr2 |
T |
C |
13: 11,720,530 (GRCm39) |
D2706G |
probably benign |
Het |
Sbf2 |
G |
A |
7: 109,974,984 (GRCm39) |
Q718* |
probably null |
Het |
Sdad1 |
T |
C |
5: 92,447,980 (GRCm39) |
T252A |
probably benign |
Het |
Sgk1 |
T |
C |
10: 21,870,009 (GRCm39) |
L16P |
probably damaging |
Het |
Slc38a8 |
A |
G |
8: 120,212,327 (GRCm39) |
S339P |
possibly damaging |
Het |
Slc44a4 |
T |
C |
17: 35,140,667 (GRCm39) |
S287P |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 5,375,760 (GRCm39) |
I111V |
probably damaging |
Het |
Synm |
A |
C |
7: 67,383,194 (GRCm39) |
S1489R |
probably damaging |
Het |
Tfb2m |
A |
G |
1: 179,365,269 (GRCm39) |
F232L |
probably benign |
Het |
Traf3 |
A |
T |
12: 111,227,095 (GRCm39) |
K328* |
probably null |
Het |
Trim38 |
C |
A |
13: 23,972,365 (GRCm39) |
Q229K |
probably benign |
Het |
Vcan |
A |
G |
13: 89,837,951 (GRCm39) |
I2531T |
probably damaging |
Het |
Virma |
T |
A |
4: 11,546,211 (GRCm39) |
I1683N |
possibly damaging |
Het |
Vmn1r18 |
A |
T |
6: 57,367,551 (GRCm39) |
M1K |
probably null |
Het |
Vmn2r87 |
T |
C |
10: 130,314,761 (GRCm39) |
N275S |
probably damaging |
Het |
Vps13a |
T |
A |
19: 16,701,066 (GRCm39) |
H701L |
probably benign |
Het |
Vrk3 |
T |
A |
7: 44,420,348 (GRCm39) |
|
probably null |
Het |
Zfp993 |
T |
A |
4: 146,742,098 (GRCm39) |
S141T |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGGCCATGCTTGAACAATG -3'
(R):5'- TTGCTGGAGAGAACACTGACAG -3'
Sequencing Primer
(F):5'- GGATTTTCTTGGAAAGCAGCCAC -3'
(R):5'- CACTGACAGTCTTGTAATAACACG -3'
|
Posted On |
2019-10-07 |