Incidental Mutation 'R5640:Lrrc66'
ID |
440596 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc66
|
Ensembl Gene |
ENSMUSG00000067206 |
Gene Name |
leucine rich repeat containing 66 |
Synonyms |
|
MMRRC Submission |
043289-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R5640 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
73763985-73789771 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 73765977 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 355
(D355E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084423
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087177]
|
AlphaFold |
Q8K0B3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087177
AA Change: D355E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000084423 Gene: ENSMUSG00000067206 AA Change: D355E
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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted, other(1) Gene trapped(1) |
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
A |
G |
11: 105,861,511 (GRCm39) |
Y220C |
probably damaging |
Het |
Actl6a |
A |
G |
3: 32,772,199 (GRCm39) |
T170A |
probably damaging |
Het |
Adamts8 |
T |
C |
9: 30,867,796 (GRCm39) |
V540A |
probably benign |
Het |
Aga |
T |
C |
8: 53,964,919 (GRCm39) |
L27P |
probably damaging |
Het |
Agmat |
T |
A |
4: 141,483,134 (GRCm39) |
H189Q |
probably damaging |
Het |
Alx3 |
C |
A |
3: 107,507,977 (GRCm39) |
T162K |
probably damaging |
Het |
Armc2 |
T |
A |
10: 41,887,894 (GRCm39) |
I30L |
possibly damaging |
Het |
Atp10d |
T |
G |
5: 72,404,552 (GRCm39) |
Y487D |
probably damaging |
Het |
Atp13a4 |
C |
T |
16: 29,234,649 (GRCm39) |
M908I |
probably damaging |
Het |
B4galt2 |
T |
G |
4: 117,731,195 (GRCm39) |
N322T |
probably benign |
Het |
Bmal1 |
C |
T |
7: 112,907,888 (GRCm39) |
P530L |
probably damaging |
Het |
Brdt |
A |
T |
5: 107,507,174 (GRCm39) |
K525* |
probably null |
Het |
Ccdc168 |
T |
C |
1: 44,101,087 (GRCm39) |
I4V |
probably benign |
Het |
Ces3a |
T |
A |
8: 105,778,377 (GRCm39) |
M246K |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,763,190 (GRCm39) |
H2338Q |
probably damaging |
Het |
Cyp3a16 |
T |
A |
5: 145,389,633 (GRCm39) |
D244V |
possibly damaging |
Het |
Dhrs9 |
C |
A |
2: 69,224,822 (GRCm39) |
A170E |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,220,529 (GRCm39) |
N550D |
probably damaging |
Het |
Dnah8 |
C |
T |
17: 31,022,082 (GRCm39) |
T3894I |
probably damaging |
Het |
Dpys |
T |
C |
15: 39,705,462 (GRCm39) |
H217R |
probably damaging |
Het |
Dpysl2 |
C |
T |
14: 67,071,817 (GRCm39) |
V108I |
probably benign |
Het |
Eprs1 |
A |
G |
1: 185,106,381 (GRCm39) |
T199A |
probably benign |
Het |
Fads1 |
A |
G |
19: 10,163,767 (GRCm39) |
D183G |
probably damaging |
Het |
Fam110b |
T |
G |
4: 5,798,689 (GRCm39) |
Y36D |
probably damaging |
Het |
Fbxl21 |
G |
A |
13: 56,685,194 (GRCm39) |
D407N |
probably benign |
Het |
Fuca2 |
G |
A |
10: 13,383,174 (GRCm39) |
|
probably null |
Het |
Gnas |
C |
A |
2: 174,126,764 (GRCm39) |
R100S |
probably benign |
Het |
Gse1 |
A |
G |
8: 121,289,416 (GRCm39) |
H90R |
possibly damaging |
Het |
Hoxc10 |
G |
T |
15: 102,875,702 (GRCm39) |
C137F |
probably benign |
Het |
Ipp |
T |
G |
4: 116,377,886 (GRCm39) |
L252R |
possibly damaging |
Het |
Jmjd1c |
T |
A |
10: 67,061,857 (GRCm39) |
S1403R |
probably benign |
Het |
Kif19a |
A |
G |
11: 114,670,041 (GRCm39) |
M79V |
probably benign |
Het |
Lipo4 |
T |
C |
19: 33,478,986 (GRCm39) |
T285A |
possibly damaging |
Het |
Lrsam1 |
T |
A |
2: 32,835,864 (GRCm39) |
Q301L |
probably benign |
Het |
Med6 |
C |
T |
12: 81,628,628 (GRCm39) |
R138Q |
probably damaging |
Het |
Nlrc5 |
A |
G |
8: 95,202,421 (GRCm39) |
T174A |
probably benign |
Het |
Nrbp1 |
C |
T |
5: 31,406,929 (GRCm39) |
R322W |
possibly damaging |
Het |
Or10ak14 |
T |
A |
4: 118,610,986 (GRCm39) |
T250S |
probably benign |
Het |
Or11g24 |
C |
A |
14: 50,662,111 (GRCm39) |
A45D |
probably benign |
Het |
Or4a47 |
T |
A |
2: 89,666,282 (GRCm39) |
E2D |
probably benign |
Het |
Pde3a |
A |
G |
6: 141,429,641 (GRCm39) |
E734G |
probably damaging |
Het |
Pgap6 |
C |
T |
17: 26,337,846 (GRCm39) |
T410I |
possibly damaging |
Het |
Pnpla7 |
C |
T |
2: 24,893,013 (GRCm39) |
T167I |
possibly damaging |
Het |
Pop7 |
T |
C |
5: 137,500,321 (GRCm39) |
N4S |
possibly damaging |
Het |
Ppm1h |
C |
A |
10: 122,618,183 (GRCm39) |
P114Q |
probably benign |
Het |
Prdm16 |
T |
C |
4: 154,426,367 (GRCm39) |
T473A |
probably benign |
Het |
Prdm6 |
T |
C |
18: 53,669,813 (GRCm39) |
|
probably null |
Het |
Prkdc |
T |
G |
16: 15,647,633 (GRCm39) |
W3686G |
possibly damaging |
Het |
Ptchd4 |
C |
A |
17: 42,814,026 (GRCm39) |
H642Q |
possibly damaging |
Het |
Rad1 |
A |
G |
15: 10,496,009 (GRCm39) |
Y228C |
possibly damaging |
Het |
Rgs22 |
G |
A |
15: 36,107,101 (GRCm39) |
T56I |
probably benign |
Het |
Rnf135 |
C |
A |
11: 80,084,733 (GRCm39) |
H169N |
probably benign |
Het |
Rnft1 |
C |
T |
11: 86,377,319 (GRCm39) |
Q128* |
probably null |
Het |
Sez6 |
T |
C |
11: 77,864,585 (GRCm39) |
|
probably benign |
Het |
Sh3rf3 |
A |
G |
10: 58,649,769 (GRCm39) |
S125G |
probably benign |
Het |
Sik2 |
T |
C |
9: 50,826,806 (GRCm39) |
E295G |
possibly damaging |
Het |
Themis |
A |
G |
10: 28,739,372 (GRCm39) |
Q614R |
probably damaging |
Het |
Thsd7b |
T |
A |
1: 130,044,408 (GRCm39) |
C1129* |
probably null |
Het |
Tmem68 |
A |
T |
4: 3,569,512 (GRCm39) |
F59L |
probably benign |
Het |
Vmn2r107 |
A |
G |
17: 20,595,426 (GRCm39) |
T660A |
probably damaging |
Het |
Vwa5b2 |
G |
T |
16: 20,416,292 (GRCm39) |
C484F |
probably damaging |
Het |
Zfp418 |
T |
A |
7: 7,184,980 (GRCm39) |
C314* |
probably null |
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 |
IGL02005:Lrrc66
|
APN |
5 |
73,766,077 (GRCm39) |
missense |
possibly damaging |
0.83 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGCACCTTCAATGTCGCC -3'
(R):5'- GGGATACACACCTTCTTCTGTC -3'
Sequencing Primer
(F):5'- TTCAATGTCGCCATGGAAGC -3'
(R):5'- CTGTCTCCTCCAAGTGACTTGAAAAG -3'
|
Posted On |
2016-11-08 |