Incidental Mutation 'R5747:Lrrc63'
| ID |
445837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc63
|
| Ensembl Gene |
ENSMUSG00000021997 |
| Gene Name |
leucine rich repeat containing 63 |
| Synonyms |
4921509B22Rik |
| MMRRC Submission |
043354-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R5747 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
75321743-75368321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75363904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 76
(T76A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022574]
[ENSMUST00000134114]
[ENSMUST00000143539]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022574
AA Change: T76A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022574
Gene: ENSMUSG00000021997
AA Change: T76A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
310 |
N/A |
INTRINSIC |
|
LRR
|
412 |
434 |
2.82e0 |
SMART |
|
LRR
|
435 |
458 |
1.45e1 |
SMART |
|
LRR
|
481 |
504 |
1.53e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124608
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134114
|
| SMART Domains |
Protein: ENSMUSP00000121376
Gene: ENSMUSG00000021998
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
13 |
41 |
6.91e-5 |
SMART |
|
EFh
|
53 |
81 |
7.7e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143539
|
| SMART Domains |
Protein: ENSMUSP00000118721
Gene: ENSMUSG00000021998
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
13 |
41 |
6.91e-5 |
SMART |
|
EFh
|
53 |
76 |
4.45e1 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
T |
1: 25,865,643 (GRCm39) |
Y67N |
probably damaging |
Het |
| Akap8l |
T |
C |
17: 32,564,352 (GRCm39) |
T12A |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,466,836 (GRCm39) |
V1620A |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,735,400 (GRCm39) |
|
probably benign |
Het |
| Ankrd34c |
C |
T |
9: 89,611,814 (GRCm39) |
V176M |
possibly damaging |
Het |
| Arhgap39 |
C |
T |
15: 76,625,735 (GRCm39) |
D190N |
possibly damaging |
Het |
| Cbl |
A |
G |
9: 44,112,416 (GRCm39) |
L93P |
probably damaging |
Het |
| Crebl2 |
C |
T |
6: 134,828,103 (GRCm39) |
L92F |
probably damaging |
Het |
| Dclre1a |
A |
G |
19: 56,529,964 (GRCm39) |
V791A |
probably damaging |
Het |
| Dzip1l |
T |
A |
9: 99,521,862 (GRCm39) |
|
probably null |
Het |
| Echs1 |
T |
C |
7: 139,691,725 (GRCm39) |
|
probably benign |
Het |
| Eif1ad16 |
C |
T |
12: 87,985,366 (GRCm39) |
C59Y |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,483,520 (GRCm39) |
I163T |
probably damaging |
Het |
| Fdft1 |
A |
G |
14: 63,384,288 (GRCm39) |
S388P |
probably damaging |
Het |
| Gbx2 |
A |
G |
1: 89,856,437 (GRCm39) |
S318P |
probably damaging |
Het |
| Gkn1 |
T |
A |
6: 87,323,319 (GRCm39) |
T165S |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Gm5093 |
T |
G |
17: 46,750,916 (GRCm39) |
E37A |
possibly damaging |
Het |
| Gm527 |
A |
T |
12: 64,967,620 (GRCm39) |
N14I |
probably damaging |
Het |
| Gnaz |
C |
T |
10: 74,827,235 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
T |
C |
10: 49,399,870 (GRCm39) |
T287A |
probably benign |
Het |
| Gtf2h4 |
T |
C |
17: 35,981,273 (GRCm39) |
Y220C |
possibly damaging |
Het |
| Igkv8-28 |
T |
C |
6: 70,121,141 (GRCm39) |
E2G |
probably benign |
Het |
| Itgbl1 |
T |
A |
14: 124,209,576 (GRCm39) |
Y318* |
probably null |
Het |
| Kcnh5 |
T |
C |
12: 74,945,194 (GRCm39) |
E685G |
probably benign |
Het |
| Kctd18 |
A |
T |
1: 58,001,183 (GRCm39) |
|
probably benign |
Het |
| Ldhal6b |
A |
C |
17: 5,468,094 (GRCm39) |
V280G |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,355,703 (GRCm39) |
T182A |
probably damaging |
Het |
| Lman2l |
T |
C |
1: 36,464,038 (GRCm39) |
D272G |
possibly damaging |
Het |
| Map3k3 |
A |
G |
11: 106,041,236 (GRCm39) |
T402A |
probably benign |
Het |
| Mdga1 |
C |
T |
17: 30,069,525 (GRCm39) |
D174N |
probably benign |
Het |
| Mob4 |
A |
G |
1: 55,187,737 (GRCm39) |
M68V |
probably damaging |
Het |
| Or1j15 |
A |
T |
2: 36,458,979 (GRCm39) |
Y123F |
probably damaging |
Het |
| Rassf8 |
A |
G |
6: 145,761,541 (GRCm39) |
E289G |
probably benign |
Het |
| Rnf17 |
T |
C |
14: 56,703,276 (GRCm39) |
|
probably null |
Het |
| Rp9 |
A |
G |
9: 22,359,960 (GRCm39) |
|
probably benign |
Het |
| Rrm2b |
T |
C |
15: 37,927,634 (GRCm39) |
Q92R |
probably benign |
Het |
| Sema6d |
C |
T |
2: 124,506,867 (GRCm39) |
P879S |
probably damaging |
Het |
| Slc27a2 |
T |
A |
2: 126,406,658 (GRCm39) |
M114K |
probably benign |
Het |
| Slc4a5 |
T |
A |
6: 83,248,011 (GRCm39) |
Y521N |
probably damaging |
Het |
| Slc6a4 |
A |
T |
11: 76,901,337 (GRCm39) |
N24I |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,984,952 (GRCm39) |
D815E |
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,848,738 (GRCm39) |
D656G |
probably damaging |
Het |
| Susd1 |
T |
A |
4: 59,424,108 (GRCm39) |
N39I |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,894,853 (GRCm39) |
T417I |
probably benign |
Het |
| Wdr31 |
C |
T |
4: 62,381,637 (GRCm39) |
V65I |
probably damaging |
Het |
| Zfp783 |
T |
C |
6: 47,925,829 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lrrc63 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01688:Lrrc63
|
APN |
14 |
75,322,422 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02222:Lrrc63
|
APN |
14 |
75,323,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02385:Lrrc63
|
APN |
14 |
75,323,640 (GRCm39) |
missense |
probably benign |
|
|
FR4548:Lrrc63
|
UTSW |
14 |
75,362,622 (GRCm39) |
small deletion |
probably benign |
|
|
FR4589:Lrrc63
|
UTSW |
14 |
75,362,622 (GRCm39) |
small deletion |
probably benign |
|
|
R0398:Lrrc63
|
UTSW |
14 |
75,363,910 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0637:Lrrc63
|
UTSW |
14 |
75,335,660 (GRCm39) |
splice site |
probably benign |
|
|
R0669:Lrrc63
|
UTSW |
14 |
75,363,550 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1465:Lrrc63
|
UTSW |
14 |
75,344,829 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1465:Lrrc63
|
UTSW |
14 |
75,344,829 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1478:Lrrc63
|
UTSW |
14 |
75,363,424 (GRCm39) |
missense |
probably benign |
|
|
R1591:Lrrc63
|
UTSW |
14 |
75,363,332 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1753:Lrrc63
|
UTSW |
14 |
75,323,784 (GRCm39) |
splice site |
probably null |
|
|
R3713:Lrrc63
|
UTSW |
14 |
75,344,776 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4013:Lrrc63
|
UTSW |
14 |
75,335,731 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4793:Lrrc63
|
UTSW |
14 |
75,363,601 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4888:Lrrc63
|
UTSW |
14 |
75,363,406 (GRCm39) |
missense |
probably benign |
|
|
R4937:Lrrc63
|
UTSW |
14 |
75,322,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5197:Lrrc63
|
UTSW |
14 |
75,322,322 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5861:Lrrc63
|
UTSW |
14 |
75,344,806 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5905:Lrrc63
|
UTSW |
14 |
75,323,614 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6028:Lrrc63
|
UTSW |
14 |
75,323,614 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6661:Lrrc63
|
UTSW |
14 |
75,362,633 (GRCm39) |
missense |
unknown |
|
|
R6982:Lrrc63
|
UTSW |
14 |
75,322,211 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7062:Lrrc63
|
UTSW |
14 |
75,323,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7439:Lrrc63
|
UTSW |
14 |
75,363,697 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7440:Lrrc63
|
UTSW |
14 |
75,358,453 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7441:Lrrc63
|
UTSW |
14 |
75,363,697 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7474:Lrrc63
|
UTSW |
14 |
75,363,643 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7604:Lrrc63
|
UTSW |
14 |
75,322,409 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7703:Lrrc63
|
UTSW |
14 |
75,360,447 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7819:Lrrc63
|
UTSW |
14 |
75,362,661 (GRCm39) |
small insertion |
probably benign |
|
|
R8519:Lrrc63
|
UTSW |
14 |
75,363,312 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8970:Lrrc63
|
UTSW |
14 |
75,362,631 (GRCm39) |
missense |
unknown |
|
|
R9025:Lrrc63
|
UTSW |
14 |
75,322,284 (GRCm39) |
missense |
probably benign |
|
|
R9547:Lrrc63
|
UTSW |
14 |
75,344,828 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9589:Lrrc63
|
UTSW |
14 |
75,322,379 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9780:Lrrc63
|
UTSW |
14 |
75,360,500 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Lrrc63
|
UTSW |
14 |
75,363,430 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTGAGATACCCATCTTCTTTGAC -3'
(R):5'- AGCAGCTTTGTTTGGAGAGC -3'
Sequencing Primer
(F):5'- TTTCGAGGACTTCTTGGCTC -3'
(R):5'- GAGGAGACCTATGGAAAGTTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation