Incidental Mutation 'R8127:Lrrc43'
| ID |
631809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc43
|
| Ensembl Gene |
ENSMUSG00000063409 |
| Gene Name |
leucine rich repeat containing 43 |
| Synonyms |
LOC381741 |
| MMRRC Submission |
067556-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R8127 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
123627368-123646268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 123630334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 66
(P66S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094327]
[ENSMUST00000121444]
[ENSMUST00000196809]
[ENSMUST00000198463]
|
| AlphaFold |
Q3V0L5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094327
AA Change: P66S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091885
Gene: ENSMUSG00000063409
AA Change: P66S
| 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: P66S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113933
Gene: ENSMUSG00000063409
AA Change: P66S
| 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 damaging
Transcript: ENSMUST00000196809
AA Change: P66S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143602
Gene: ENSMUSG00000063409
AA Change: P66S
| 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: ENSMUST00000198463
|
| SMART Domains |
Protein: ENSMUSP00000142507
Gene: ENSMUSG00000029437
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IL31
|
40 |
179 |
1.7e-64 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
C |
5: 144,980,249 (GRCm39) |
M66T |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,367,638 (GRCm39) |
N174K |
probably benign |
Het |
| Ago1 |
A |
T |
4: 126,348,214 (GRCm39) |
C342S |
possibly damaging |
Het |
| Anapc1 |
A |
G |
2: 128,474,547 (GRCm39) |
S1423P |
probably damaging |
Het |
| Antxr2 |
A |
T |
5: 98,127,876 (GRCm39) |
C218* |
probably null |
Het |
| Arsa |
A |
G |
15: 89,359,067 (GRCm39) |
Y200H |
probably damaging |
Het |
| Atad3a |
C |
T |
4: 155,838,396 (GRCm39) |
R207Q |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,735,701 (GRCm39) |
D551G |
probably damaging |
Het |
| Cdk9 |
A |
G |
2: 32,598,009 (GRCm39) |
I349T |
probably benign |
Het |
| Cmya5 |
A |
T |
13: 93,231,122 (GRCm39) |
V1322E |
probably damaging |
Het |
| Col4a3 |
T |
A |
1: 82,627,481 (GRCm39) |
I95K |
unknown |
Het |
| Dab2ip |
T |
C |
2: 35,534,138 (GRCm39) |
|
probably benign |
Het |
| Dnaaf6rt |
T |
C |
1: 31,262,201 (GRCm39) |
F61S |
probably benign |
Het |
| Dok7 |
A |
G |
5: 35,244,345 (GRCm39) |
S530G |
probably benign |
Het |
| Dst |
C |
T |
1: 34,217,310 (GRCm39) |
T1250M |
probably damaging |
Het |
| Dzank1 |
A |
C |
2: 144,330,736 (GRCm39) |
W439G |
probably damaging |
Het |
| Evx1 |
T |
A |
6: 52,290,902 (GRCm39) |
S25T |
possibly damaging |
Het |
| Fut10 |
G |
A |
8: 31,684,999 (GRCm39) |
|
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Hyal5 |
C |
A |
6: 24,891,487 (GRCm39) |
R434S |
probably benign |
Het |
| Mib1 |
T |
A |
18: 10,741,031 (GRCm39) |
I93N |
probably damaging |
Het |
| Mug2 |
G |
A |
6: 122,052,567 (GRCm39) |
E1038K |
probably benign |
Het |
| Nsd2 |
T |
A |
5: 34,042,834 (GRCm39) |
C1033S |
probably damaging |
Het |
| Or6k4 |
C |
T |
1: 173,965,155 (GRCm39) |
P282S |
probably damaging |
Het |
| Or8d4 |
T |
A |
9: 40,038,360 (GRCm39) |
H299L |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,731,613 (GRCm39) |
F176Y |
probably damaging |
Het |
| Polr3b |
A |
G |
10: 84,515,653 (GRCm39) |
K609E |
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,638,910 (GRCm39) |
N50S |
probably benign |
Het |
| Rlf |
G |
T |
4: 121,005,093 (GRCm39) |
Q1406K |
possibly damaging |
Het |
| Rusc2 |
T |
C |
4: 43,423,747 (GRCm39) |
V1023A |
possibly damaging |
Het |
| Scn11a |
C |
T |
9: 119,633,578 (GRCm39) |
G385D |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,528,714 (GRCm39) |
S155P |
probably benign |
Het |
| Spam1 |
T |
A |
6: 24,796,970 (GRCm39) |
V307D |
possibly damaging |
Het |
| Srgap1 |
A |
C |
10: 121,691,271 (GRCm39) |
M321R |
probably null |
Het |
| Stam |
A |
G |
2: 14,122,284 (GRCm39) |
I128V |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,024,798 (GRCm39) |
D262G |
possibly damaging |
Het |
| Taf2 |
G |
A |
15: 54,923,384 (GRCm39) |
R298C |
probably damaging |
Het |
| Tcl1b5 |
A |
T |
12: 105,146,262 (GRCm39) |
T112S |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,239,043 (GRCm39) |
S674P |
possibly damaging |
Het |
| Trip12 |
T |
C |
1: 84,716,463 (GRCm39) |
N1602S |
probably damaging |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,845 (GRCm39) |
I197T |
probably benign |
Het |
| Wdtc1 |
C |
T |
4: 133,029,693 (GRCm39) |
|
probably null |
Het |
| Zfp583 |
G |
T |
7: 6,326,821 (GRCm39) |
|
probably null |
Het |
| Zfyve16 |
T |
A |
13: 92,642,185 (GRCm39) |
I1213F |
probably damaging |
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 |
|
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'- CCAGTCTAATACAGAGAGCTCC -3'
(R):5'- TTCCTTCCAGTGAGCACAC -3'
Sequencing Primer
(F):5'- GAGAGCTCCACACGCACTTG -3'
(R):5'- TGAGCACACACTTACCCCCTTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation