Incidental Mutation 'IGL02005:Lrrc66'
ID |
183141 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrc66
|
Ensembl Gene |
ENSMUSG00000067206 |
Gene Name |
leucine rich repeat containing 66 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
IGL02005
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
73763985-73789771 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73766077 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 322
(D322G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084423
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087177]
|
AlphaFold |
Q8K0B3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087177
AA Change: D322G
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000084423 Gene: ENSMUSG00000067206 AA Change: D322G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
LRR
|
140 |
162 |
1.81e1 |
SMART |
LRR_TYP
|
163 |
186 |
9.44e-2 |
SMART |
LRR
|
187 |
210 |
1.26e2 |
SMART |
LRR
|
211 |
234 |
4.84e1 |
SMART |
low complexity region
|
298 |
309 |
N/A |
INTRINSIC |
transmembrane domain
|
369 |
391 |
N/A |
INTRINSIC |
low complexity region
|
434 |
445 |
N/A |
INTRINSIC |
low complexity region
|
842 |
859 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted, other(1) Gene trapped(1) |
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
A |
G |
3: 89,965,927 (GRCm39) |
D141G |
probably damaging |
Het |
Ankhd1 |
T |
G |
18: 36,781,479 (GRCm39) |
L2177R |
probably damaging |
Het |
Arhgap23 |
A |
T |
11: 97,382,045 (GRCm39) |
D1136V |
probably damaging |
Het |
Atp6v1b1 |
A |
G |
6: 83,730,896 (GRCm39) |
|
probably benign |
Het |
Atxn1 |
T |
C |
13: 45,721,701 (GRCm39) |
T65A |
probably benign |
Het |
Bbs4 |
A |
G |
9: 59,243,638 (GRCm39) |
|
probably benign |
Het |
Bms1 |
G |
A |
6: 118,381,546 (GRCm39) |
T664M |
probably damaging |
Het |
Bod1l |
T |
C |
5: 41,973,682 (GRCm39) |
D2544G |
probably benign |
Het |
Cdhr2 |
C |
T |
13: 54,867,576 (GRCm39) |
H469Y |
probably benign |
Het |
Cep57l1 |
T |
C |
10: 41,616,957 (GRCm39) |
D110G |
probably benign |
Het |
Chd4 |
G |
A |
6: 125,105,779 (GRCm39) |
E1786K |
possibly damaging |
Het |
Cltc |
T |
C |
11: 86,621,045 (GRCm39) |
K321E |
possibly damaging |
Het |
Col6a2 |
T |
C |
10: 76,446,007 (GRCm39) |
D383G |
probably damaging |
Het |
Crcp |
T |
G |
5: 130,071,074 (GRCm39) |
C58G |
probably benign |
Het |
Ctc1 |
A |
G |
11: 68,921,975 (GRCm39) |
Y807C |
probably damaging |
Het |
Eml4 |
T |
A |
17: 83,785,132 (GRCm39) |
|
probably benign |
Het |
Glce |
A |
T |
9: 61,967,859 (GRCm39) |
L431I |
probably damaging |
Het |
Glp1r |
C |
A |
17: 31,143,585 (GRCm39) |
T207K |
probably benign |
Het |
Gm28042 |
G |
A |
2: 119,865,115 (GRCm39) |
V247I |
possibly damaging |
Het |
Gvin-ps5 |
G |
T |
7: 105,928,627 (GRCm39) |
F423L |
unknown |
Het |
Hcrtr1 |
T |
A |
4: 130,031,056 (GRCm39) |
H76L |
probably benign |
Het |
Hoxb13 |
G |
A |
11: 96,085,435 (GRCm39) |
G56D |
probably damaging |
Het |
Hykk |
A |
G |
9: 54,827,842 (GRCm39) |
E27G |
possibly damaging |
Het |
Kars1 |
A |
T |
8: 112,726,736 (GRCm39) |
L321* |
probably null |
Het |
Klhl12 |
A |
T |
1: 134,391,652 (GRCm39) |
T95S |
possibly damaging |
Het |
Klhl14 |
A |
T |
18: 21,757,668 (GRCm39) |
Y347* |
probably null |
Het |
Kmt5b |
A |
G |
19: 3,836,538 (GRCm39) |
H25R |
possibly damaging |
Het |
Krtap12-1 |
T |
A |
10: 77,556,823 (GRCm39) |
V122D |
probably damaging |
Het |
Lrrc8b |
T |
A |
5: 105,628,920 (GRCm39) |
V422D |
probably benign |
Het |
Med12l |
T |
G |
3: 59,152,368 (GRCm39) |
M1051R |
probably damaging |
Het |
Mmrn1 |
A |
G |
6: 60,937,728 (GRCm39) |
Y242C |
probably damaging |
Het |
Ncf2 |
A |
T |
1: 152,692,803 (GRCm39) |
I107L |
possibly damaging |
Het |
Or6b13 |
C |
T |
7: 139,782,345 (GRCm39) |
E113K |
probably damaging |
Het |
Pdlim4 |
T |
C |
11: 53,950,810 (GRCm39) |
D93G |
probably benign |
Het |
Pgap1 |
C |
A |
1: 54,590,214 (GRCm39) |
A75S |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,804,978 (GRCm39) |
D3209G |
possibly damaging |
Het |
Prcp |
T |
C |
7: 92,577,032 (GRCm39) |
S319P |
probably benign |
Het |
Rasal2 |
G |
A |
1: 156,984,568 (GRCm39) |
Q1035* |
probably null |
Het |
Ryr3 |
A |
T |
2: 112,493,608 (GRCm39) |
|
probably benign |
Het |
Scaf8 |
T |
C |
17: 3,236,145 (GRCm39) |
I544T |
probably damaging |
Het |
Svep1 |
A |
T |
4: 58,069,056 (GRCm39) |
V2910E |
possibly damaging |
Het |
Tln2 |
C |
T |
9: 67,299,787 (GRCm39) |
R155Q |
possibly damaging |
Het |
Trpm7 |
A |
T |
2: 126,655,104 (GRCm39) |
L1278H |
probably damaging |
Het |
Tti2 |
G |
T |
8: 31,645,858 (GRCm39) |
G391C |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,778,363 (GRCm39) |
M1295I |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,554,313 (GRCm39) |
|
probably benign |
Het |
Vmn1r170 |
G |
A |
7: 23,306,338 (GRCm39) |
V247M |
probably damaging |
Het |
Wdr48 |
T |
C |
9: 119,734,455 (GRCm39) |
Y125H |
probably damaging |
Het |
Wdtc1 |
C |
T |
4: 133,036,225 (GRCm39) |
R105H |
probably benign |
Het |
Zc3h11a |
A |
G |
1: 133,549,880 (GRCm39) |
S699P |
probably benign |
Het |
Zkscan14 |
C |
T |
5: 145,132,419 (GRCm39) |
V371I |
probably benign |
Het |
Zzef1 |
A |
T |
11: 72,779,125 (GRCm39) |
Y1862F |
probably benign |
Het |
|
Other mutations in Lrrc66 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00507:Lrrc66
|
APN |
5 |
73,764,457 (GRCm39) |
missense |
probably benign |
0.10 |
IGL00913:Lrrc66
|
APN |
5 |
73,765,499 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL00954:Lrrc66
|
APN |
5 |
73,765,741 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01061:Lrrc66
|
APN |
5 |
73,772,842 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01343:Lrrc66
|
APN |
5 |
73,765,806 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01714:Lrrc66
|
APN |
5 |
73,787,320 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01822:Lrrc66
|
APN |
5 |
73,787,311 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02166:Lrrc66
|
APN |
5 |
73,764,634 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02380:Lrrc66
|
APN |
5 |
73,787,009 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL03162:Lrrc66
|
APN |
5 |
73,764,725 (GRCm39) |
missense |
probably benign |
|
BB002:Lrrc66
|
UTSW |
5 |
73,765,835 (GRCm39) |
missense |
possibly damaging |
0.81 |
BB012:Lrrc66
|
UTSW |
5 |
73,765,835 (GRCm39) |
missense |
possibly damaging |
0.81 |
D4043:Lrrc66
|
UTSW |
5 |
73,764,869 (GRCm39) |
missense |
probably benign |
0.03 |
R0126:Lrrc66
|
UTSW |
5 |
73,764,431 (GRCm39) |
missense |
probably benign |
0.10 |
R0437:Lrrc66
|
UTSW |
5 |
73,765,030 (GRCm39) |
missense |
probably benign |
0.23 |
R0638:Lrrc66
|
UTSW |
5 |
73,772,816 (GRCm39) |
splice site |
probably benign |
|
R0658:Lrrc66
|
UTSW |
5 |
73,768,287 (GRCm39) |
missense |
probably benign |
0.40 |
R0729:Lrrc66
|
UTSW |
5 |
73,765,757 (GRCm39) |
missense |
probably benign |
|
R1603:Lrrc66
|
UTSW |
5 |
73,764,769 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1774:Lrrc66
|
UTSW |
5 |
73,768,198 (GRCm39) |
missense |
probably benign |
0.16 |
R1831:Lrrc66
|
UTSW |
5 |
73,764,769 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1832:Lrrc66
|
UTSW |
5 |
73,764,769 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1902:Lrrc66
|
UTSW |
5 |
73,764,965 (GRCm39) |
missense |
probably damaging |
0.99 |
R2858:Lrrc66
|
UTSW |
5 |
73,764,646 (GRCm39) |
missense |
probably benign |
0.08 |
R4097:Lrrc66
|
UTSW |
5 |
73,765,047 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4164:Lrrc66
|
UTSW |
5 |
73,787,119 (GRCm39) |
splice site |
probably null |
|
R4582:Lrrc66
|
UTSW |
5 |
73,765,580 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4708:Lrrc66
|
UTSW |
5 |
73,787,005 (GRCm39) |
missense |
probably benign |
0.06 |
R4856:Lrrc66
|
UTSW |
5 |
73,765,910 (GRCm39) |
missense |
probably benign |
0.10 |
R4886:Lrrc66
|
UTSW |
5 |
73,765,910 (GRCm39) |
missense |
probably benign |
0.10 |
R5074:Lrrc66
|
UTSW |
5 |
73,765,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R5464:Lrrc66
|
UTSW |
5 |
73,765,622 (GRCm39) |
missense |
probably benign |
0.05 |
R5640:Lrrc66
|
UTSW |
5 |
73,765,977 (GRCm39) |
missense |
probably benign |
0.00 |
R5709:Lrrc66
|
UTSW |
5 |
73,766,206 (GRCm39) |
missense |
probably benign |
|
R5811:Lrrc66
|
UTSW |
5 |
73,772,860 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6146:Lrrc66
|
UTSW |
5 |
73,765,432 (GRCm39) |
missense |
probably benign |
0.10 |
R7037:Lrrc66
|
UTSW |
5 |
73,764,504 (GRCm39) |
missense |
probably benign |
0.10 |
R7041:Lrrc66
|
UTSW |
5 |
73,765,899 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7141:Lrrc66
|
UTSW |
5 |
73,787,320 (GRCm39) |
missense |
probably benign |
0.10 |
R7201:Lrrc66
|
UTSW |
5 |
73,787,240 (GRCm39) |
missense |
probably benign |
0.11 |
R7250:Lrrc66
|
UTSW |
5 |
73,768,224 (GRCm39) |
missense |
probably benign |
0.03 |
R7367:Lrrc66
|
UTSW |
5 |
73,765,724 (GRCm39) |
missense |
probably benign |
0.13 |
R7773:Lrrc66
|
UTSW |
5 |
73,764,664 (GRCm39) |
missense |
probably damaging |
0.98 |
R7925:Lrrc66
|
UTSW |
5 |
73,765,835 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8057:Lrrc66
|
UTSW |
5 |
73,764,875 (GRCm39) |
nonsense |
probably null |
|
R8167:Lrrc66
|
UTSW |
5 |
73,786,952 (GRCm39) |
nonsense |
probably null |
|
R8552:Lrrc66
|
UTSW |
5 |
73,768,228 (GRCm39) |
missense |
probably benign |
0.16 |
R8834:Lrrc66
|
UTSW |
5 |
73,765,928 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8992:Lrrc66
|
UTSW |
5 |
73,787,227 (GRCm39) |
missense |
probably benign |
0.04 |
R9017:Lrrc66
|
UTSW |
5 |
73,765,244 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9051:Lrrc66
|
UTSW |
5 |
73,765,268 (GRCm39) |
missense |
probably benign |
0.00 |
R9051:Lrrc66
|
UTSW |
5 |
73,765,267 (GRCm39) |
missense |
probably benign |
0.05 |
|
Posted On |
2014-05-07 |