Incidental Mutation 'R5028:Lrrc43'
| ID |
391502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc43
|
| Ensembl Gene |
ENSMUSG00000063409 |
| Gene Name |
leucine rich repeat containing 43 |
| Synonyms |
LOC381741 |
| MMRRC Submission |
042619-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R5028 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
123627368-123646268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123646176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 643
(I643T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113933
(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 |
probably damaging
Transcript: ENSMUST00000094327
AA Change: I650T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091885
Gene: ENSMUSG00000063409
AA Change: I650T
| 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 |
probably damaging
Transcript: ENSMUST00000121444
AA Change: I643T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113933
Gene: ENSMUSG00000063409
AA Change: I643T
| 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 |
noncoding transcript
Transcript: ENSMUST00000134552
|
| 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: S643P
|
| SMART Domains |
Protein: ENSMUSP00000143602
Gene: ENSMUSG00000063409
AA Change: S643P
| 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 |
|
| Meta Mutation Damage Score |
0.2681 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
97% (62/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,104,356 (GRCm39) |
S777C |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,187,458 (GRCm39) |
|
probably null |
Het |
| Arhgap17 |
T |
A |
7: 122,893,896 (GRCm39) |
H508L |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,803,709 (GRCm39) |
|
probably null |
Het |
| Atp12a |
T |
C |
14: 56,624,435 (GRCm39) |
F961S |
probably damaging |
Het |
| B4galnt4 |
C |
A |
7: 140,647,975 (GRCm39) |
P497Q |
probably benign |
Het |
| Camsap1 |
A |
G |
2: 25,834,568 (GRCm39) |
S364P |
probably damaging |
Het |
| Ccdc150 |
C |
A |
1: 54,302,636 (GRCm39) |
D85E |
probably benign |
Het |
| Cdc45 |
A |
G |
16: 18,613,930 (GRCm39) |
Y291H |
probably benign |
Het |
| Comp |
A |
C |
8: 70,829,290 (GRCm39) |
N289T |
probably damaging |
Het |
| Cops3 |
T |
A |
11: 59,708,856 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
G |
A |
10: 43,874,208 (GRCm39) |
H967Y |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 16,039,090 (GRCm39) |
F2423I |
probably damaging |
Het |
| Dact1 |
C |
A |
12: 71,365,347 (GRCm39) |
C709* |
probably null |
Het |
| Dcxr |
T |
G |
11: 120,617,273 (GRCm39) |
Q90P |
probably damaging |
Het |
| Ell |
A |
G |
8: 71,043,349 (GRCm39) |
Y494C |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,581,727 (GRCm39) |
E333G |
possibly damaging |
Het |
| Eml2 |
T |
C |
7: 18,913,372 (GRCm39) |
|
probably null |
Het |
| Fam186b |
T |
A |
15: 99,178,682 (GRCm39) |
M215L |
probably damaging |
Het |
| Gm17078 |
T |
A |
14: 51,848,699 (GRCm39) |
R13W |
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hspa14 |
A |
G |
2: 3,499,206 (GRCm39) |
F196S |
possibly damaging |
Het |
| Ier5 |
A |
G |
1: 154,974,849 (GRCm39) |
S110P |
possibly damaging |
Het |
| Kif1a |
T |
A |
1: 92,982,049 (GRCm39) |
I793F |
possibly damaging |
Het |
| Map3k19 |
A |
T |
1: 127,750,969 (GRCm39) |
L794Q |
probably benign |
Het |
| Meox2 |
A |
T |
12: 37,158,935 (GRCm39) |
M36L |
probably benign |
Het |
| Mgat5b |
T |
A |
11: 116,875,855 (GRCm39) |
L693Q |
probably damaging |
Het |
| Mup4 |
T |
A |
4: 59,958,124 (GRCm39) |
E148V |
possibly damaging |
Het |
| Napb |
T |
C |
2: 148,545,057 (GRCm39) |
N162S |
possibly damaging |
Het |
| Nlgn2 |
T |
C |
11: 69,718,563 (GRCm39) |
D339G |
probably benign |
Het |
| Nucks1 |
C |
T |
1: 131,855,840 (GRCm39) |
R90C |
possibly damaging |
Het |
| Or11g7 |
T |
C |
14: 50,691,196 (GRCm39) |
V229A |
probably damaging |
Het |
| Or5an9 |
T |
A |
19: 12,187,518 (GRCm39) |
V196E |
possibly damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,739,723 (GRCm39) |
D24V |
probably damaging |
Het |
| Prpf4b |
C |
T |
13: 35,083,958 (GRCm39) |
P909L |
probably damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,132,485 (GRCm39) |
K116* |
probably null |
Het |
| Ror1 |
A |
G |
4: 100,269,133 (GRCm39) |
T324A |
possibly damaging |
Het |
| Slc24a4 |
G |
A |
12: 102,230,629 (GRCm39) |
G505R |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,956,702 (GRCm39) |
I112T |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,297,314 (GRCm39) |
S69G |
probably damaging |
Het |
| Smc2 |
A |
T |
4: 52,458,447 (GRCm39) |
E429D |
probably damaging |
Het |
| Sry |
T |
C |
Y: 2,663,312 (GRCm39) |
D116G |
probably damaging |
Het |
| Tcea3 |
T |
A |
4: 135,985,246 (GRCm39) |
V154E |
possibly damaging |
Het |
| Tigd2 |
G |
A |
6: 59,188,205 (GRCm39) |
W357* |
probably null |
Het |
| Tmem177 |
T |
A |
1: 119,838,419 (GRCm39) |
T87S |
probably benign |
Het |
| Treh |
A |
T |
9: 44,594,186 (GRCm39) |
E144V |
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,764,124 (GRCm39) |
D243E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,608,394 (GRCm39) |
D17843G |
probably damaging |
Het |
| Vars2 |
A |
C |
17: 35,970,365 (GRCm39) |
|
probably null |
Het |
| Vmn1r201 |
G |
A |
13: 22,659,530 (GRCm39) |
W248* |
probably null |
Het |
| Yap1 |
T |
C |
9: 8,001,690 (GRCm39) |
T99A |
probably benign |
Het |
| Zbtb8b |
C |
A |
4: 129,326,793 (GRCm39) |
C91F |
probably damaging |
Het |
| Zfp882 |
A |
G |
8: 72,668,498 (GRCm39) |
T442A |
possibly damaging |
Het |
| Zxdc |
G |
T |
6: 90,359,320 (GRCm39) |
G651C |
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 |
|
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 |
|
R9305:Lrrc43
|
UTSW |
5 |
123,646,219 (GRCm39) |
missense |
unknown |
|
|
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'- CTTTCGGAATTCCTCTAGGTTGGAG -3'
(R):5'- TATCCAGGACGCACTTGTGG -3'
Sequencing Primer
(F):5'- AGAACAGGGCTTGAATTCCC -3'
(R):5'- GCTCGTTGGCAACTGCAAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation