Incidental Mutation 'R9305:Lrrc43'
| ID |
705158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc43
|
| Ensembl Gene |
ENSMUSG00000063409 |
| Gene Name |
leucine rich repeat containing 43 |
| Synonyms |
LOC381741 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R9305 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
123627368-123646268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 123646219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 657
(A657V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031384]
[ENSMUST00000094327]
[ENSMUST00000111587]
[ENSMUST00000121444]
[ENSMUST00000125652]
[ENSMUST00000139398]
[ENSMUST00000196809]
[ENSMUST00000197682]
[ENSMUST00000200247]
|
| AlphaFold |
Q3V0L5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031384
|
| SMART Domains |
Protein: ENSMUSP00000031384
Gene: ENSMUSG00000029431
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
106 |
297 |
1.3e-43 |
PFAM |
|
Pfam:Fringe
|
169 |
302 |
2.8e-11 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000094327
|
| SMART Domains |
Protein: ENSMUSP00000091885
Gene: ENSMUSG00000063409
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
|
SCOP:d1a9na_
|
117 |
262 |
3e-16 |
SMART |
|
low complexity region
|
389 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
537 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
629 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111587
|
| SMART Domains |
Protein: ENSMUSP00000107214
Gene: ENSMUSG00000029433
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Smac_DIABLO
|
9 |
237 |
4.1e-106 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000121444
|
| SMART Domains |
Protein: ENSMUSP00000113933
Gene: ENSMUSG00000063409
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
|
SCOP:d1a9na_
|
117 |
262 |
4e-16 |
SMART |
|
low complexity region
|
389 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125652
|
| SMART Domains |
Protein: ENSMUSP00000115045
Gene: ENSMUSG00000029433
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Smac_DIABLO
|
6 |
237 |
1.1e-111 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139398
|
| SMART Domains |
Protein: ENSMUSP00000143485
Gene: ENSMUSG00000029433
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Smac_DIABLO
|
6 |
150 |
7.1e-68 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000196809
AA Change: A657V
|
| SMART Domains |
Protein: ENSMUSP00000143602
Gene: ENSMUSG00000063409
AA Change: A657V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
|
SCOP:d1a9na_
|
117 |
262 |
2e-16 |
SMART |
|
low complexity region
|
389 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
537 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
652 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197682
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200247
|
| SMART Domains |
Protein: ENSMUSP00000143673
Gene: ENSMUSG00000029433
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Smac_DIABLO
|
1 |
109 |
4.4e-57 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,126,989 (GRCm39) |
I1227V |
probably benign |
Het |
| Abhd8 |
A |
G |
8: 71,911,148 (GRCm39) |
V261A |
possibly damaging |
Het |
| Adam34 |
A |
T |
8: 44,104,416 (GRCm39) |
C410S |
probably damaging |
Het |
| Adamts17 |
T |
C |
7: 66,489,645 (GRCm39) |
L21P |
probably damaging |
Het |
| Adgre1 |
A |
G |
17: 57,748,275 (GRCm39) |
N492D |
probably benign |
Het |
| Aldh1b1 |
G |
A |
4: 45,803,811 (GRCm39) |
V450M |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,058,053 (GRCm39) |
I2178M |
probably benign |
Het |
| Atp9a |
A |
T |
2: 168,517,163 (GRCm39) |
I390N |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,098,969 (GRCm39) |
I1277V |
|
Het |
| Cacng2 |
T |
G |
15: 77,897,542 (GRCm39) |
Y89S |
possibly damaging |
Het |
| Capn10 |
T |
C |
1: 92,871,665 (GRCm39) |
|
probably null |
Het |
| Casq2 |
A |
G |
3: 102,052,700 (GRCm39) |
D404G |
unknown |
Het |
| Cdh9 |
T |
A |
15: 16,832,138 (GRCm39) |
Y342N |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,392,271 (GRCm39) |
|
probably null |
Het |
| Cep295nl |
G |
A |
11: 118,224,766 (GRCm39) |
P26L |
possibly damaging |
Het |
| Chmp4c |
T |
G |
3: 10,454,974 (GRCm39) |
S214A |
probably benign |
Het |
| Clstn2 |
T |
A |
9: 97,343,537 (GRCm39) |
I637F |
probably damaging |
Het |
| Csmd1 |
G |
T |
8: 16,011,532 (GRCm39) |
T2507K |
probably benign |
Het |
| Ddx55 |
C |
T |
5: 124,705,012 (GRCm39) |
S427F |
probably damaging |
Het |
| Dpysl5 |
T |
C |
5: 30,948,959 (GRCm39) |
W405R |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,355,388 (GRCm39) |
V451A |
possibly damaging |
Het |
| Fads2b |
A |
T |
2: 85,330,649 (GRCm39) |
C219* |
probably null |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Foxa3 |
A |
G |
7: 18,748,961 (GRCm39) |
L55P |
possibly damaging |
Het |
| Gng2 |
G |
T |
14: 19,925,961 (GRCm39) |
H44N |
probably damaging |
Het |
| Hps5 |
G |
A |
7: 46,438,619 (GRCm39) |
T38I |
possibly damaging |
Het |
| Igf2 |
G |
A |
7: 142,208,153 (GRCm39) |
R64C |
probably damaging |
Het |
| Klb |
T |
A |
5: 65,505,988 (GRCm39) |
Y78* |
probably null |
Het |
| Krt32 |
T |
C |
11: 99,972,029 (GRCm39) |
T440A |
probably benign |
Het |
| Kynu |
T |
A |
2: 43,569,768 (GRCm39) |
F350Y |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,618,574 (GRCm39) |
S281T |
|
Het |
| Mief2 |
C |
A |
11: 60,622,042 (GRCm39) |
P204Q |
possibly damaging |
Het |
| Morc3 |
G |
T |
16: 93,667,302 (GRCm39) |
R560L |
probably benign |
Het |
| Or2y3 |
A |
T |
17: 38,393,629 (GRCm39) |
V80D |
probably damaging |
Het |
| Or8c20 |
A |
C |
9: 38,260,381 (GRCm39) |
M1L |
probably benign |
Het |
| Orc3 |
G |
A |
4: 34,607,181 (GRCm39) |
R50* |
probably null |
Het |
| Osbpl6 |
T |
A |
2: 76,378,716 (GRCm39) |
D124E |
probably damaging |
Het |
| Parp4 |
TG |
T |
14: 56,832,790 (GRCm39) |
|
probably null |
Het |
| Parp4 |
T |
C |
14: 56,852,224 (GRCm39) |
|
probably null |
Het |
| Pcdhb18 |
A |
C |
18: 37,625,004 (GRCm39) |
H778P |
probably benign |
Het |
| Polg |
A |
T |
7: 79,105,860 (GRCm39) |
Y710N |
probably benign |
Het |
| Ppp2r2b |
C |
A |
18: 42,779,025 (GRCm39) |
R370L |
possibly damaging |
Het |
| Prune2 |
A |
G |
19: 17,097,625 (GRCm39) |
D1043G |
probably benign |
Het |
| Rpl6 |
T |
C |
5: 121,346,516 (GRCm39) |
S206P |
possibly damaging |
Het |
| Serpina3i |
T |
C |
12: 104,234,881 (GRCm39) |
V404A |
probably damaging |
Het |
| Serpinb8 |
T |
C |
1: 107,526,769 (GRCm39) |
|
probably null |
Het |
| Stx11 |
A |
T |
10: 12,817,564 (GRCm39) |
D53E |
probably benign |
Het |
| Thoc3 |
C |
T |
13: 54,607,998 (GRCm39) |
W315* |
probably null |
Het |
| Tmem26 |
G |
A |
10: 68,559,816 (GRCm39) |
W29* |
probably null |
Het |
| Togaram2 |
A |
G |
17: 71,996,408 (GRCm39) |
E137G |
probably damaging |
Het |
| Ttc39b |
A |
G |
4: 83,151,023 (GRCm39) |
L524S |
probably damaging |
Het |
| Usp43 |
T |
C |
11: 67,767,345 (GRCm39) |
N675S |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,268,439 (GRCm39) |
L10P |
possibly damaging |
Het |
| Zbtb1 |
G |
A |
12: 76,432,773 (GRCm39) |
R253Q |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,255,771 (GRCm39) |
D1474G |
probably benign |
Het |
| Zfp873 |
T |
C |
10: 81,896,514 (GRCm39) |
F415S |
probably benign |
Het |
|
| Other mutations in Lrrc43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02123:Lrrc43
|
APN |
5 |
123,632,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02364:Lrrc43
|
APN |
5 |
123,639,275 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
PIT4520001:Lrrc43
|
UTSW |
5 |
123,630,530 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0019:Lrrc43
|
UTSW |
5 |
123,639,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0279:Lrrc43
|
UTSW |
5 |
123,635,085 (GRCm39) |
splice site |
probably null |
|
|
R0523:Lrrc43
|
UTSW |
5 |
123,639,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1723:Lrrc43
|
UTSW |
5 |
123,630,276 (GRCm39) |
unclassified |
probably benign |
|
|
R2104:Lrrc43
|
UTSW |
5 |
123,639,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2213:Lrrc43
|
UTSW |
5 |
123,641,640 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2269:Lrrc43
|
UTSW |
5 |
123,641,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4591:Lrrc43
|
UTSW |
5 |
123,639,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4629:Lrrc43
|
UTSW |
5 |
123,637,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4727:Lrrc43
|
UTSW |
5 |
123,632,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Lrrc43
|
UTSW |
5 |
123,639,126 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4960:Lrrc43
|
UTSW |
5 |
123,637,675 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5028:Lrrc43
|
UTSW |
5 |
123,646,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5387:Lrrc43
|
UTSW |
5 |
123,637,734 (GRCm39) |
splice site |
probably null |
|
|
R5653:Lrrc43
|
UTSW |
5 |
123,637,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6266:Lrrc43
|
UTSW |
5 |
123,641,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6323:Lrrc43
|
UTSW |
5 |
123,641,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6703:Lrrc43
|
UTSW |
5 |
123,637,532 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6869:Lrrc43
|
UTSW |
5 |
123,642,339 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6909:Lrrc43
|
UTSW |
5 |
123,638,482 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7023:Lrrc43
|
UTSW |
5 |
123,641,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7910:Lrrc43
|
UTSW |
5 |
123,639,084 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7910:Lrrc43
|
UTSW |
5 |
123,630,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8093:Lrrc43
|
UTSW |
5 |
123,639,192 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8127:Lrrc43
|
UTSW |
5 |
123,630,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8351:Lrrc43
|
UTSW |
5 |
123,632,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8722:Lrrc43
|
UTSW |
5 |
123,646,142 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8920:Lrrc43
|
UTSW |
5 |
123,639,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9189:Lrrc43
|
UTSW |
5 |
123,646,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9544:Lrrc43
|
UTSW |
5 |
123,641,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9588:Lrrc43
|
UTSW |
5 |
123,641,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Lrrc43
|
UTSW |
5 |
123,639,381 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGGAATTCCTCTAGGTTGGAGAAC -3'
(R):5'- CCACCTTGCAGTCTATCCAG -3'
Sequencing Primer
(F):5'- AGAACAGGGCTTGAATTCCC -3'
(R):5'- AGTCTATCCAGGACGCACTTGTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation