Incidental Mutation 'R6323:Lrrc43'
| ID |
510197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc43
|
| Ensembl Gene |
ENSMUSG00000063409 |
| Gene Name |
leucine rich repeat containing 43 |
| Synonyms |
LOC381741 |
| MMRRC Submission |
044477-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R6323 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
123627368-123646268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 123641949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 600
(G600W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094327]
[ENSMUST00000121444]
[ENSMUST00000196809]
|
| AlphaFold |
Q3V0L5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094327
AA Change: G600W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091885
Gene: ENSMUSG00000063409
AA Change: G600W
| 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 damaging
Transcript: ENSMUST00000121444
AA Change: G593W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113933
Gene: ENSMUSG00000063409
AA Change: G593W
| 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 |
noncoding transcript
Transcript: ENSMUST00000134552
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196809
AA Change: G600W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143602
Gene: ENSMUSG00000063409
AA Change: G600W
| 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 |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,436,568 (GRCm39) |
T171A |
unknown |
Het |
| Akr1c6 |
A |
G |
13: 4,497,017 (GRCm39) |
K153R |
possibly damaging |
Het |
| Ano1 |
T |
A |
7: 144,165,423 (GRCm39) |
I601F |
possibly damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,676,404 (GRCm39) |
Y8C |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,962,286 (GRCm39) |
I1816V |
probably benign |
Het |
| Cadps2 |
T |
A |
6: 23,263,577 (GRCm39) |
T1294S |
probably benign |
Het |
| Casz1 |
T |
C |
4: 149,026,161 (GRCm39) |
S952P |
possibly damaging |
Het |
| Cdc20 |
T |
C |
4: 118,292,761 (GRCm39) |
N329S |
probably damaging |
Het |
| Ceacam1 |
A |
C |
7: 25,174,076 (GRCm39) |
L193R |
probably damaging |
Het |
| Celf5 |
A |
G |
10: 81,305,337 (GRCm39) |
S143P |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,548,395 (GRCm39) |
D1342G |
possibly damaging |
Het |
| Chd5 |
C |
A |
4: 152,451,791 (GRCm39) |
T701K |
probably damaging |
Het |
| Cpt1b |
C |
A |
15: 89,303,266 (GRCm39) |
M596I |
probably benign |
Het |
| Ctrb1 |
A |
G |
8: 112,416,223 (GRCm39) |
V21A |
probably benign |
Het |
| Diaph3 |
C |
T |
14: 87,203,889 (GRCm39) |
V579I |
probably benign |
Het |
| Dlc1 |
T |
C |
8: 37,405,537 (GRCm39) |
E84G |
possibly damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,325,390 (GRCm39) |
D254G |
probably damaging |
Het |
| Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
| Gstm1 |
A |
G |
3: 107,925,063 (GRCm39) |
V10A |
probably benign |
Het |
| Krt13 |
C |
A |
11: 100,011,976 (GRCm39) |
A116S |
probably damaging |
Het |
| Lars2 |
A |
T |
9: 123,270,659 (GRCm39) |
K584* |
probably null |
Het |
| Madd |
G |
T |
2: 90,991,783 (GRCm39) |
|
probably null |
Het |
| Mnat1 |
A |
G |
12: 73,214,878 (GRCm39) |
D65G |
probably damaging |
Het |
| Nsmf |
A |
G |
2: 24,945,063 (GRCm39) |
N42S |
possibly damaging |
Het |
| Or4k77 |
T |
C |
2: 111,199,046 (GRCm39) |
L23P |
possibly damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,645 (GRCm39) |
L48P |
probably damaging |
Het |
| Palld |
A |
T |
8: 62,173,727 (GRCm39) |
W311R |
probably damaging |
Het |
| Pax1 |
T |
A |
2: 147,210,321 (GRCm39) |
V352E |
probably damaging |
Het |
| Rnf2 |
T |
C |
1: 151,348,967 (GRCm39) |
K51R |
probably damaging |
Het |
| Rpl7l1 |
C |
A |
17: 47,093,564 (GRCm39) |
|
probably benign |
Het |
| Slc1a6 |
G |
A |
10: 78,648,721 (GRCm39) |
G481S |
probably damaging |
Het |
| Slc34a1 |
A |
G |
13: 23,998,969 (GRCm39) |
I121V |
probably benign |
Het |
| Spata31h1 |
G |
A |
10: 82,118,916 (GRCm39) |
T4698I |
probably benign |
Het |
| Trav6-1 |
T |
C |
14: 52,876,248 (GRCm39) |
V56A |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r79 |
T |
A |
7: 86,650,522 (GRCm39) |
C103S |
probably benign |
Het |
| Wwp2 |
A |
T |
8: 108,267,303 (GRCm39) |
H305L |
probably damaging |
Het |
| Zfp593 |
A |
G |
4: 133,972,224 (GRCm39) |
V94A |
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 |
|
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'- TGCTCACAGCTGTGTTCCTG -3'
(R):5'- ATCTGGACCACAACTGGAGG -3'
Sequencing Primer
(F):5'- GGCCTTGCCCACAGGATAAG -3'
(R):5'- GTGTCACCATGTCAGTGTACCAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation