Incidental Mutation 'IGL02222:Lrrc63'
| ID |
285195 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc63
|
| Ensembl Gene |
ENSMUSG00000021997 |
| Gene Name |
leucine rich repeat containing 63 |
| Synonyms |
4921509B22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
IGL02222
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
75321743-75368321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75323580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 548
(Y548C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022574]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022574
AA Change: Y548C
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022574
Gene: ENSMUSG00000021997
AA Change: Y548C
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,322,045 (GRCm39) |
R1682W |
probably benign |
Het |
| Angptl6 |
A |
T |
9: 20,785,203 (GRCm39) |
M450K |
probably damaging |
Het |
| Armc12 |
C |
A |
17: 28,757,694 (GRCm39) |
N275K |
probably damaging |
Het |
| Cd27 |
T |
C |
6: 125,211,495 (GRCm39) |
H144R |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,386,641 (GRCm39) |
K1880E |
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,414,094 (GRCm39) |
I907N |
probably damaging |
Het |
| Dpy19l4 |
A |
C |
4: 11,281,116 (GRCm39) |
F443C |
possibly damaging |
Het |
| Eif3i |
C |
T |
4: 129,485,881 (GRCm39) |
D315N |
possibly damaging |
Het |
| Fam217a |
A |
G |
13: 35,095,102 (GRCm39) |
L128P |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,078 (GRCm39) |
L62F |
probably damaging |
Het |
| Fmn1 |
A |
T |
2: 113,423,454 (GRCm39) |
I1047F |
probably damaging |
Het |
| G2e3 |
A |
G |
12: 51,410,016 (GRCm39) |
H267R |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,338,585 (GRCm39) |
|
probably null |
Het |
| Gm10650 |
T |
C |
3: 127,833,789 (GRCm39) |
|
noncoding transcript |
Het |
| Grip1 |
C |
T |
10: 119,835,714 (GRCm39) |
T470I |
probably damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,682,152 (GRCm39) |
D466A |
probably benign |
Het |
| Naaa |
T |
C |
5: 92,407,409 (GRCm39) |
|
probably benign |
Het |
| Parpbp |
T |
A |
10: 87,975,947 (GRCm39) |
E55D |
possibly damaging |
Het |
| Pnpt1 |
A |
T |
11: 29,109,327 (GRCm39) |
D691V |
possibly damaging |
Het |
| Pnpt1 |
G |
A |
11: 29,080,842 (GRCm39) |
A29T |
probably benign |
Het |
| Pramel11 |
A |
G |
4: 143,622,416 (GRCm39) |
M313T |
possibly damaging |
Het |
| Psg25 |
T |
C |
7: 18,263,652 (GRCm39) |
N57S |
probably damaging |
Het |
| Selenbp2 |
T |
A |
3: 94,607,269 (GRCm39) |
V168E |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 75,999,617 (GRCm39) |
E2337K |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,087,755 (GRCm39) |
T1269A |
probably benign |
Het |
| Tent5b |
T |
C |
4: 133,213,864 (GRCm39) |
V245A |
probably damaging |
Het |
| Tnfrsf13c |
C |
A |
15: 82,107,364 (GRCm39) |
V144L |
probably damaging |
Het |
| Uspl1 |
G |
T |
5: 149,130,854 (GRCm39) |
V132L |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,449 (GRCm39) |
Y398F |
possibly damaging |
Het |
| Vps13a |
T |
A |
19: 16,659,539 (GRCm39) |
T1663S |
probably benign |
Het |
| Ythdc1 |
G |
A |
5: 86,975,902 (GRCm39) |
R503H |
possibly damaging |
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 |
|
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 |
|
R5747:Lrrc63
|
UTSW |
14 |
75,363,904 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation