Incidental Mutation 'R8756:Lrch3'
ID |
664186 |
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 |
068597-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R8756 (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 A
at 32808810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 514
(S514T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023491
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023491]
[ENSMUST00000135193]
[ENSMUST00000165616]
[ENSMUST00000165826]
[ENSMUST00000170201]
[ENSMUST00000170899]
|
AlphaFold |
Q8BVU0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023491
AA Change: S514T
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000023491 Gene: ENSMUSG00000022801 AA Change: S514T
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: S514T
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000130708 Gene: ENSMUSG00000022801 AA Change: S514T
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: ENSMUSP00000117302 Gene: ENSMUSG00000022801 AA Change: S62T
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 |
|
SMART Domains |
Protein: ENSMUSP00000133034 Gene: ENSMUSG00000022801 AA Change: S96T
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 |
possibly damaging
Transcript: ENSMUST00000165616
AA Change: S360T
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000130009 Gene: ENSMUSG00000022801 AA Change: S360T
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
AA Change: S137T
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000126308 Gene: ENSMUSG00000022801 AA Change: S137T
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: S514T
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000126964 Gene: ENSMUSG00000022801 AA Change: S514T
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 |
possibly damaging
Transcript: ENSMUST00000170899
AA Change: S464T
PolyPhen 2
Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127547 Gene: ENSMUSG00000022801 AA Change: S464T
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Antxr1 |
A |
T |
6: 87,165,235 (GRCm39) |
S401T |
probably damaging |
Het |
Armh1 |
T |
A |
4: 117,094,861 (GRCm39) |
I60L |
probably benign |
Het |
Atp8b5 |
T |
C |
4: 43,342,439 (GRCm39) |
V370A |
probably damaging |
Het |
Atraid |
T |
A |
5: 31,211,385 (GRCm39) |
Y184N |
probably damaging |
Het |
Cp |
G |
C |
3: 20,059,736 (GRCm39) |
|
probably null |
Het |
Crebbp |
A |
G |
16: 3,903,767 (GRCm39) |
I1824T |
probably benign |
Het |
Cyp2c65 |
A |
T |
19: 39,049,552 (GRCm39) |
R27* |
probably null |
Het |
Dtl |
T |
C |
1: 191,271,371 (GRCm39) |
H725R |
probably benign |
Het |
Dync1h1 |
G |
T |
12: 110,583,261 (GRCm39) |
A453S |
probably benign |
Het |
Fat3 |
T |
A |
9: 16,287,885 (GRCm39) |
D546V |
probably damaging |
Het |
Flt1 |
T |
C |
5: 147,576,224 (GRCm39) |
T595A |
probably benign |
Het |
Gtf2ird2 |
C |
T |
5: 134,226,090 (GRCm39) |
P179S |
possibly damaging |
Het |
Hoga1 |
A |
G |
19: 42,048,716 (GRCm39) |
I145V |
probably benign |
Het |
Igfn1 |
G |
T |
1: 135,895,698 (GRCm39) |
Q1623K |
probably benign |
Het |
Jsrp1 |
T |
A |
10: 80,647,940 (GRCm39) |
|
probably null |
Het |
Krt90 |
A |
C |
15: 101,470,779 (GRCm39) |
|
probably null |
Het |
Mad2l1 |
T |
C |
6: 66,512,569 (GRCm39) |
V20A |
probably damaging |
Het |
Malrd1 |
T |
C |
2: 15,757,706 (GRCm39) |
|
probably null |
Het |
Matn2 |
A |
C |
15: 34,423,876 (GRCm39) |
E578A |
possibly damaging |
Het |
Myof |
A |
T |
19: 37,928,400 (GRCm39) |
W1050R |
probably benign |
Het |
Nemp1 |
T |
A |
10: 127,528,845 (GRCm39) |
I183N |
probably benign |
Het |
Nid1 |
A |
G |
13: 13,683,386 (GRCm39) |
T1155A |
probably benign |
Het |
Nsd1 |
T |
C |
13: 55,461,506 (GRCm39) |
S2681P |
probably benign |
Het |
Onecut3 |
C |
A |
10: 80,349,750 (GRCm39) |
R415S |
probably damaging |
Het |
Or2d2 |
T |
C |
7: 106,728,019 (GRCm39) |
T194A |
probably benign |
Het |
Or4s2 |
T |
A |
2: 88,473,183 (GRCm39) |
V24E |
possibly damaging |
Het |
Pclo |
T |
A |
5: 14,764,398 (GRCm39) |
S1005R |
|
Het |
Ppp1r16b |
G |
A |
2: 158,593,098 (GRCm39) |
D226N |
probably damaging |
Het |
R3hcc1l |
G |
A |
19: 42,552,073 (GRCm39) |
V357M |
probably damaging |
Het |
Sec63 |
C |
T |
10: 42,686,905 (GRCm39) |
T475M |
possibly damaging |
Het |
Serpinh1 |
A |
G |
7: 98,996,359 (GRCm39) |
Y242H |
probably damaging |
Het |
Slit2 |
G |
T |
5: 48,459,829 (GRCm39) |
E1370* |
probably null |
Het |
Sos2 |
C |
A |
12: 69,695,310 (GRCm39) |
L142F |
probably damaging |
Het |
Spag4 |
T |
C |
2: 155,908,493 (GRCm39) |
L141P |
possibly damaging |
Het |
Sun1 |
T |
C |
5: 139,222,444 (GRCm39) |
L570P |
probably damaging |
Het |
Tars2 |
A |
G |
3: 95,648,672 (GRCm39) |
V662A |
probably benign |
Het |
Tmem245 |
C |
A |
4: 56,899,025 (GRCm39) |
|
probably null |
Het |
Tpp2 |
T |
A |
1: 43,999,295 (GRCm39) |
Y356* |
probably null |
Het |
Trafd1 |
T |
C |
5: 121,513,878 (GRCm39) |
E303G |
probably damaging |
Het |
Trim71 |
T |
C |
9: 114,342,605 (GRCm39) |
E559G |
possibly damaging |
Het |
Ush2a |
T |
A |
1: 188,644,141 (GRCm39) |
V4501E |
possibly damaging |
Het |
Vegfa |
T |
C |
17: 46,342,465 (GRCm39) |
T118A |
probably damaging |
Het |
Vmn2r124 |
A |
T |
17: 18,294,094 (GRCm39) |
H727L |
probably benign |
Het |
Zdhhc2 |
T |
A |
8: 40,920,551 (GRCm39) |
V270E |
probably damaging |
Het |
Zfp112 |
T |
C |
7: 23,824,997 (GRCm39) |
S326P |
probably benign |
Het |
Zfp37 |
T |
C |
4: 62,110,371 (GRCm39) |
D272G |
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 |
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 |
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'- GTATAGCTCGTTGCAGTTCTTC -3'
(R):5'- TGACTCAAGCTGCAGACCAG -3'
Sequencing Primer
(F):5'- AGCTCGTTGCAGTTCTTCATTTAAG -3'
(R):5'- GGCTATCCCAGAATTCACTATGTAGC -3'
|
Posted On |
2021-03-08 |