Incidental Mutation 'R7041:Lrrc66'
| ID |
547045 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc66
|
| Ensembl Gene |
ENSMUSG00000067206 |
| Gene Name |
leucine rich repeat containing 66 |
| Synonyms |
|
| MMRRC Submission |
045140-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R7041 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
73763985-73789771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73765899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 381
(F381L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087177]
|
| AlphaFold |
Q8K0B3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087177
AA Change: F381L
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000084423
Gene: ENSMUSG00000067206
AA Change: F381L
| 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 |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (53/55) |
| Allele List at MGI |
All alleles(2) : Targeted, other(1) Gene trapped(1) |
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
T |
7: 78,748,096 (GRCm39) |
E956* |
probably null |
Het |
| Adam25 |
A |
T |
8: 41,207,121 (GRCm39) |
H129L |
probably benign |
Het |
| Adgrl4 |
A |
T |
3: 151,144,959 (GRCm39) |
H36L |
probably benign |
Het |
| Ago1 |
T |
A |
4: 126,357,499 (GRCm39) |
I59F |
possibly damaging |
Het |
| Anapc1 |
A |
T |
2: 128,470,576 (GRCm39) |
V1518E |
possibly damaging |
Het |
| Atxn1 |
A |
G |
13: 45,720,311 (GRCm39) |
I528T |
probably damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,650,593 (GRCm39) |
H820R |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,612,977 (GRCm39) |
E282G |
probably damaging |
Het |
| Camk1 |
T |
A |
6: 113,316,475 (GRCm39) |
M95L |
probably benign |
Het |
| Capn7 |
C |
T |
14: 31,058,642 (GRCm39) |
|
probably benign |
Het |
| Cav1 |
A |
G |
6: 17,339,143 (GRCm39) |
E45G |
possibly damaging |
Het |
| Ccdc183 |
T |
G |
2: 25,503,682 (GRCm39) |
E185A |
probably benign |
Het |
| Ccl2 |
T |
A |
11: 81,926,489 (GRCm39) |
M1K |
probably null |
Het |
| Cep97 |
T |
A |
16: 55,726,117 (GRCm39) |
H590L |
probably benign |
Het |
| Dsg1c |
A |
T |
18: 20,399,201 (GRCm39) |
I102F |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,921,334 (GRCm39) |
Y184H |
possibly damaging |
Het |
| Gart |
C |
T |
16: 91,440,031 (GRCm39) |
|
probably benign |
Het |
| Gask1a |
A |
T |
9: 121,794,467 (GRCm39) |
Q207L |
probably damaging |
Het |
| Golga3 |
G |
A |
5: 110,356,450 (GRCm39) |
|
probably null |
Het |
| Hint3 |
G |
T |
10: 30,486,380 (GRCm39) |
A133E |
probably damaging |
Het |
| Hspe1 |
T |
C |
1: 55,128,376 (GRCm39) |
|
probably null |
Het |
| Insr |
A |
T |
8: 3,308,418 (GRCm39) |
V206E |
probably benign |
Het |
| Insrr |
T |
C |
3: 87,722,551 (GRCm39) |
S1258P |
probably damaging |
Het |
| Itga11 |
C |
T |
9: 62,659,538 (GRCm39) |
T430M |
probably damaging |
Het |
| Jmjd1c |
G |
A |
10: 67,056,388 (GRCm39) |
V890I |
possibly damaging |
Het |
| Kdm4b |
T |
A |
17: 56,703,592 (GRCm39) |
S717R |
probably damaging |
Het |
| Large1 |
A |
T |
8: 73,843,092 (GRCm39) |
C144S |
probably damaging |
Het |
| Lrat |
G |
T |
3: 82,810,755 (GRCm39) |
Q89K |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,396,832 (GRCm39) |
T2634A |
probably damaging |
Het |
| Nup205 |
T |
G |
6: 35,201,470 (GRCm39) |
I1182M |
possibly damaging |
Het |
| Or2a51 |
T |
A |
6: 43,178,837 (GRCm39) |
D86E |
probably benign |
Het |
| Or5m10 |
A |
T |
2: 85,717,965 (GRCm39) |
I274F |
probably benign |
Het |
| Or6c66 |
T |
A |
10: 129,461,603 (GRCm39) |
E109V |
probably damaging |
Het |
| Plekha6 |
T |
A |
1: 133,200,198 (GRCm39) |
V259D |
possibly damaging |
Het |
| Prdm9 |
C |
A |
17: 15,765,257 (GRCm39) |
A508S |
possibly damaging |
Het |
| Prickle2 |
A |
G |
6: 92,353,286 (GRCm39) |
F783L |
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,054,047 (GRCm39) |
S31G |
probably benign |
Het |
| Rbak |
A |
T |
5: 143,159,226 (GRCm39) |
I609N |
probably damaging |
Het |
| Rimklb |
A |
T |
6: 122,436,176 (GRCm39) |
L134* |
probably null |
Het |
| Ripor2 |
A |
G |
13: 24,877,749 (GRCm39) |
I250V |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spaca6 |
C |
T |
17: 18,056,358 (GRCm39) |
L118F |
probably benign |
Het |
| Tmem167 |
G |
A |
13: 90,246,533 (GRCm39) |
C19Y |
probably benign |
Het |
| Togaram1 |
C |
T |
12: 65,067,160 (GRCm39) |
T1684I |
possibly damaging |
Het |
| Trappc8 |
T |
C |
18: 21,007,729 (GRCm39) |
T129A |
probably benign |
Het |
| Ubash3a |
A |
G |
17: 31,447,184 (GRCm39) |
S347G |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,542,752 (GRCm39) |
S289P |
probably benign |
Het |
| Vmn2r11 |
A |
G |
5: 109,202,816 (GRCm39) |
I87T |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,363,751 (GRCm39) |
F381I |
probably damaging |
Het |
| Wdsub1 |
A |
G |
2: 59,683,224 (GRCm39) |
L450P |
probably damaging |
Het |
| Xylt2 |
A |
G |
11: 94,558,408 (GRCm39) |
|
probably null |
Het |
| Zfp429 |
A |
T |
13: 67,538,830 (GRCm39) |
C205S |
probably damaging |
Het |
| Zfp60 |
T |
C |
7: 27,448,451 (GRCm39) |
I373T |
probably benign |
Het |
| Zfp738 |
A |
G |
13: 67,818,420 (GRCm39) |
S524P |
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 |
|
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'- ACAGCACTGTGTGGGATTG -3'
(R):5'- ACCTTTCTGCTCTGGGGAAG -3'
Sequencing Primer
(F):5'- CCACGAAGGGTTCTGGTTCTCAG -3'
(R):5'- TGCTCTGGGGAAGGAGGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation