Incidental Mutation 'R8247:Lrch3'
| ID |
640736 |
| 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 |
067674-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R8247 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
32734470-32836017 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to G
at 32829713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 781
(L781*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023491]
[ENSMUST00000135193]
[ENSMUST00000165616]
[ENSMUST00000170201]
[ENSMUST00000170899]
|
| AlphaFold |
Q8BVU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023491
|
| SMART Domains |
Protein: ENSMUSP00000023491
Gene: ENSMUSG00000022801
| 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 null
Transcript: ENSMUST00000135193
AA Change: L781*
|
| SMART Domains |
Protein: ENSMUSP00000130708
Gene: ENSMUSG00000022801
AA Change: L781*
| 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 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
|
| SMART Domains |
Protein: ENSMUSP00000126964
Gene: ENSMUSG00000022801
| 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
|
| SMART Domains |
Protein: ENSMUSP00000127547
Gene: ENSMUSG00000022801
| 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 |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730596B20Rik |
T |
C |
6: 52,155,942 (GRCm39) |
S3P |
unknown |
Het |
| Abca15 |
A |
T |
7: 119,936,445 (GRCm39) |
Y170F |
possibly damaging |
Het |
| Alpl |
C |
T |
4: 137,473,764 (GRCm39) |
V313M |
probably damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,792,102 (GRCm39) |
H311R |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,361,870 (GRCm39) |
L2749Q |
|
Het |
| Bicd2 |
C |
T |
13: 49,533,462 (GRCm39) |
R683W |
probably damaging |
Het |
| Brat1 |
C |
A |
5: 140,698,893 (GRCm39) |
P342T |
possibly damaging |
Het |
| Camta1 |
T |
A |
4: 151,159,721 (GRCm39) |
T482S |
probably damaging |
Het |
| Carhsp1 |
A |
G |
16: 8,481,535 (GRCm39) |
V67A |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,282,998 (GRCm39) |
N512I |
probably damaging |
Het |
| Ccdc126 |
C |
T |
6: 49,316,775 (GRCm39) |
T85M |
probably damaging |
Het |
| Cd274 |
C |
T |
19: 29,362,795 (GRCm39) |
Q286* |
probably null |
Het |
| Cep192 |
T |
A |
18: 67,974,188 (GRCm39) |
I1097N |
probably benign |
Het |
| Cimip4 |
A |
C |
15: 78,262,992 (GRCm39) |
S221A |
probably benign |
Het |
| Clvs1 |
A |
T |
4: 9,281,885 (GRCm39) |
N110Y |
possibly damaging |
Het |
| Cntln |
A |
G |
4: 85,019,017 (GRCm39) |
T102A |
probably benign |
Het |
| Cp |
A |
C |
3: 20,020,570 (GRCm39) |
I188L |
possibly damaging |
Het |
| Crh |
A |
G |
3: 19,748,291 (GRCm39) |
L117P |
probably benign |
Het |
| Dcaf1 |
A |
T |
9: 106,731,427 (GRCm39) |
I635F |
possibly damaging |
Het |
| Dennd2c |
A |
G |
3: 103,059,637 (GRCm39) |
D521G |
probably damaging |
Het |
| E2f2 |
C |
T |
4: 135,900,126 (GRCm39) |
T12M |
possibly damaging |
Het |
| Eid2 |
G |
A |
7: 27,967,972 (GRCm39) |
R198H |
probably damaging |
Het |
| Exosc4 |
G |
T |
15: 76,213,279 (GRCm39) |
C74F |
probably damaging |
Het |
| Fanca |
A |
T |
8: 124,010,694 (GRCm39) |
|
probably benign |
Het |
| Ganc |
A |
T |
2: 120,267,181 (GRCm39) |
Q499L |
probably null |
Het |
| Gfy |
T |
C |
7: 44,827,710 (GRCm39) |
T129A |
possibly damaging |
Het |
| Gli3 |
G |
T |
13: 15,901,360 (GRCm39) |
M1582I |
possibly damaging |
Het |
| Gm4744 |
A |
G |
6: 40,926,402 (GRCm39) |
S63P |
|
Het |
| Htr2b |
T |
C |
1: 86,027,817 (GRCm39) |
T230A |
probably benign |
Het |
| Iqcb1 |
T |
A |
16: 36,678,836 (GRCm39) |
N383K |
probably benign |
Het |
| Lpcat1 |
A |
T |
13: 73,662,071 (GRCm39) |
I471F |
probably damaging |
Het |
| Lrif1 |
T |
A |
3: 106,641,692 (GRCm39) |
S3T |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,261,431 (GRCm39) |
R4503S |
possibly damaging |
Het |
| Lrrc8c |
T |
C |
5: 105,756,310 (GRCm39) |
I695T |
probably damaging |
Het |
| Mak |
G |
A |
13: 41,193,146 (GRCm39) |
T473M |
possibly damaging |
Het |
| Map2k5 |
A |
T |
9: 63,279,019 (GRCm39) |
Y62N |
probably damaging |
Het |
| Mbd3l2 |
T |
C |
9: 18,356,299 (GRCm39) |
L208P |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,840,062 (GRCm39) |
E2577G |
probably damaging |
Het |
| Nfia |
A |
T |
4: 97,953,644 (GRCm39) |
T461S |
probably benign |
Het |
| Oaz3 |
A |
G |
3: 94,343,741 (GRCm39) |
Y41H |
probably damaging |
Het |
| Or10ab5 |
T |
A |
7: 108,245,370 (GRCm39) |
I138F |
probably damaging |
Het |
| Or1p1 |
C |
A |
11: 74,180,315 (GRCm39) |
T281K |
noncoding transcript |
Het |
| Or2ad1 |
A |
G |
13: 21,326,295 (GRCm39) |
S311P |
probably benign |
Het |
| Or51m1 |
T |
C |
7: 103,578,783 (GRCm39) |
V251A |
possibly damaging |
Het |
| Pin1rt1 |
T |
C |
2: 104,544,892 (GRCm39) |
E80G |
probably damaging |
Het |
| Pmpcb |
T |
C |
5: 21,961,852 (GRCm39) |
Y457H |
probably damaging |
Het |
| Polr2b |
T |
C |
5: 77,468,062 (GRCm39) |
S121P |
possibly damaging |
Het |
| Ppm1e |
C |
T |
11: 87,122,101 (GRCm39) |
G619R |
probably benign |
Het |
| Pramel5 |
T |
A |
4: 143,999,395 (GRCm39) |
M231L |
probably damaging |
Het |
| Prex2 |
G |
T |
1: 11,270,194 (GRCm39) |
C1293F |
probably benign |
Het |
| Psg20 |
A |
G |
7: 18,416,562 (GRCm39) |
F185L |
probably benign |
Het |
| Psg28 |
A |
G |
7: 18,156,864 (GRCm39) |
V457A |
probably benign |
Het |
| Pxmp2 |
A |
G |
5: 110,422,445 (GRCm39) |
L188P |
probably damaging |
Het |
| Scd3 |
A |
T |
19: 44,227,003 (GRCm39) |
N279I |
possibly damaging |
Het |
| Scg2 |
T |
G |
1: 79,414,236 (GRCm39) |
K162N |
possibly damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,149,372 (GRCm39) |
E1629G |
probably benign |
Het |
| Slc27a2 |
T |
A |
2: 126,395,515 (GRCm39) |
F147L |
probably benign |
Het |
| Smco1 |
T |
C |
16: 32,092,557 (GRCm39) |
V76A |
probably benign |
Het |
| Spic |
T |
C |
10: 88,511,923 (GRCm39) |
K111R |
probably damaging |
Het |
| Spidr |
A |
G |
16: 15,786,390 (GRCm39) |
|
probably null |
Het |
| Sptbn1 |
T |
A |
11: 30,063,906 (GRCm39) |
I1971F |
possibly damaging |
Het |
| Stard8 |
C |
T |
X: 98,109,570 (GRCm39) |
S155L |
probably benign |
Het |
| Tiam1 |
G |
A |
16: 89,695,037 (GRCm39) |
T140M |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Ufl1 |
T |
C |
4: 25,250,606 (GRCm39) |
E749G |
probably benign |
Het |
| Vmn1r168 |
G |
T |
7: 23,240,487 (GRCm39) |
V115F |
possibly damaging |
Het |
| Wars2 |
G |
A |
3: 99,094,965 (GRCm39) |
V87I |
probably benign |
Het |
| Zdhhc14 |
T |
A |
17: 5,736,031 (GRCm39) |
C170S |
probably damaging |
Het |
| Zfp113 |
C |
T |
5: 138,143,296 (GRCm39) |
C318Y |
possibly damaging |
Het |
| Zfp367 |
A |
G |
13: 64,300,482 (GRCm39) |
S108P |
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 |
|
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 |
|
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'- AGAATGCTGGGTTTCTGAGC -3'
(R):5'- AGGCGAGACAATGCACTTGC -3'
Sequencing Primer
(F):5'- GATCCGCTGCACTGACTTTG -3'
(R):5'- GCAATTTCTCAAGTCAGGGTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation