Incidental Mutation 'R7773:Lrrc66'
ID |
598700 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc66
|
Ensembl Gene |
ENSMUSG00000067206 |
Gene Name |
leucine rich repeat containing 66 |
Synonyms |
|
MMRRC Submission |
045829-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R7773 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
73763985-73789771 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 73764664 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 793
(S793F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084423
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087177]
|
AlphaFold |
Q8K0B3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087177
AA Change: S793F
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000084423 Gene: ENSMUSG00000067206 AA Change: S793F
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 |
|
Meta Mutation Damage Score |
0.1043 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (55/56) |
Allele List at MGI |
All alleles(2) : Targeted, other(1) Gene trapped(1) |
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
G |
3: 124,206,180 (GRCm39) |
I336T |
probably benign |
Het |
4930519P11Rik |
T |
C |
2: 154,455,107 (GRCm39) |
Y84C |
unknown |
Het |
4930568D16Rik |
C |
T |
2: 35,244,606 (GRCm39) |
G249S |
probably damaging |
Het |
AAdacl4fm3 |
A |
T |
4: 144,430,047 (GRCm39) |
L314Q |
probably damaging |
Het |
Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
Agbl1 |
T |
A |
7: 76,348,585 (GRCm39) |
V894E |
unknown |
Het |
Amigo3 |
T |
C |
9: 107,931,867 (GRCm39) |
L430P |
probably benign |
Het |
Aoc1 |
A |
G |
6: 48,883,146 (GRCm39) |
I341V |
probably benign |
Het |
Bod1l |
A |
G |
5: 41,990,055 (GRCm39) |
S223P |
probably benign |
Het |
Cacnb3 |
T |
C |
15: 98,537,819 (GRCm39) |
|
probably null |
Het |
Ccdc63 |
G |
T |
5: 122,247,335 (GRCm39) |
N503K |
probably damaging |
Het |
Ccdc83 |
T |
A |
7: 89,879,120 (GRCm39) |
I225F |
probably damaging |
Het |
Cd200r1 |
A |
G |
16: 44,610,050 (GRCm39) |
T90A |
possibly damaging |
Het |
Cd8a |
A |
G |
6: 71,350,799 (GRCm39) |
N88S |
probably benign |
Het |
Cep170 |
A |
G |
1: 176,567,642 (GRCm39) |
V152A |
|
Het |
Chid1 |
T |
C |
7: 141,109,518 (GRCm39) |
M123V |
probably benign |
Het |
Cnnm4 |
T |
C |
1: 36,538,603 (GRCm39) |
V595A |
probably benign |
Het |
Coro7 |
A |
G |
16: 4,449,870 (GRCm39) |
L630P |
probably damaging |
Het |
Cpvl |
A |
G |
6: 53,908,890 (GRCm39) |
|
probably null |
Het |
Edem3 |
A |
T |
1: 151,687,347 (GRCm39) |
K762* |
probably null |
Het |
Elp6 |
T |
A |
9: 110,141,627 (GRCm39) |
|
probably null |
Het |
Emilin3 |
A |
T |
2: 160,752,718 (GRCm39) |
Y77* |
probably null |
Het |
Fam234b |
T |
A |
6: 135,220,912 (GRCm39) |
I641N |
probably benign |
Het |
Farsa |
T |
C |
8: 85,590,781 (GRCm39) |
|
probably null |
Het |
Foxf2 |
T |
C |
13: 31,811,182 (GRCm39) |
S374P |
probably benign |
Het |
Gm11596 |
A |
T |
11: 99,683,667 (GRCm39) |
I151N |
unknown |
Het |
Gm9817 |
C |
T |
13: 45,232,427 (GRCm39) |
Q77* |
probably null |
Het |
Gon4l |
A |
G |
3: 88,803,102 (GRCm39) |
K1238E |
probably benign |
Het |
H13 |
A |
G |
2: 152,537,431 (GRCm39) |
Y292C |
probably damaging |
Het |
Hip1r |
A |
G |
5: 124,139,504 (GRCm39) |
N928S |
probably benign |
Het |
Iqcf4 |
T |
C |
9: 106,445,812 (GRCm39) |
N112D |
probably benign |
Het |
Jak3 |
A |
C |
8: 72,131,686 (GRCm39) |
T125P |
probably benign |
Het |
Krt7 |
A |
C |
15: 101,311,913 (GRCm39) |
K124Q |
possibly damaging |
Het |
Ldc1 |
T |
C |
4: 130,114,169 (GRCm39) |
N83D |
probably damaging |
Het |
Mycbp2 |
C |
T |
14: 103,485,840 (GRCm39) |
V1074I |
probably damaging |
Het |
Nckap5 |
T |
C |
1: 125,954,581 (GRCm39) |
D657G |
probably benign |
Het |
Nt5el |
A |
G |
13: 105,218,793 (GRCm39) |
I42M |
probably damaging |
Het |
Or5b113 |
T |
A |
19: 13,342,598 (GRCm39) |
V202E |
probably benign |
Het |
Or8k21 |
T |
C |
2: 86,145,034 (GRCm39) |
I199V |
probably benign |
Het |
Osbpl7 |
A |
G |
11: 96,941,548 (GRCm39) |
S24G |
probably benign |
Het |
Pcm1 |
G |
T |
8: 41,762,610 (GRCm39) |
E1385* |
probably null |
Het |
Poc5 |
A |
G |
13: 96,547,143 (GRCm39) |
T469A |
probably damaging |
Het |
Ppp3ca |
A |
G |
3: 136,596,222 (GRCm39) |
T296A |
probably benign |
Het |
Prl6a1 |
T |
C |
13: 27,502,125 (GRCm39) |
I164T |
probably damaging |
Het |
Psmd6 |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
14: 14,119,882 (GRCm38) |
|
probably null |
Het |
Rnf149 |
A |
C |
1: 39,604,299 (GRCm39) |
M188R |
possibly damaging |
Het |
Rpl10l |
T |
C |
12: 66,331,041 (GRCm39) |
I31V |
probably benign |
Het |
Serinc5 |
T |
C |
13: 92,797,592 (GRCm39) |
S32P |
probably damaging |
Het |
Sirt1 |
T |
A |
10: 63,162,562 (GRCm39) |
K137M |
possibly damaging |
Het |
Smc4 |
A |
G |
3: 68,923,496 (GRCm39) |
Y251C |
probably damaging |
Het |
Sod3 |
A |
C |
5: 52,525,643 (GRCm39) |
E114A |
possibly damaging |
Het |
Tgfbr3 |
A |
G |
5: 107,288,368 (GRCm39) |
V431A |
probably benign |
Het |
Tlr4 |
T |
C |
4: 66,757,836 (GRCm39) |
S210P |
probably damaging |
Het |
Trub2 |
G |
T |
2: 29,676,520 (GRCm39) |
T70N |
probably benign |
Het |
Tsga10 |
A |
T |
1: 37,874,323 (GRCm39) |
C159S |
unknown |
Het |
Vmn1r15 |
A |
T |
6: 57,235,644 (GRCm39) |
I171F |
probably benign |
Het |
Vmn2r50 |
T |
A |
7: 9,771,562 (GRCm39) |
H713L |
possibly damaging |
Het |
Zcchc14 |
T |
C |
8: 122,378,514 (GRCm39) |
S43G |
unknown |
Het |
Zfp638 |
T |
C |
6: 83,956,196 (GRCm39) |
I1601T |
probably damaging |
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 |
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 |
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'- TGATGGTGAACTATCTACATTTGGG -3'
(R):5'- ACACAAGGAGCTTGGCTGAG -3'
Sequencing Primer
(F):5'- GTGAACTATCTACATTTGGGGATTCC -3'
(R):5'- AATGATGGGACCAGCCAGCC -3'
|
Posted On |
2019-11-26 |