Incidental Mutation 'R7367:Lrrc66'
| ID |
571870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc66
|
| Ensembl Gene |
ENSMUSG00000067206 |
| Gene Name |
leucine rich repeat containing 66 |
| Synonyms |
|
| MMRRC Submission |
045451-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R7367 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
73763985-73789771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73765724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 440
(T440A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087177]
|
| AlphaFold |
Q8K0B3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087177
AA Change: T440A
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000084423
Gene: ENSMUSG00000067206
AA Change: T440A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(1) Gene trapped(1) |
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
A |
G |
3: 137,996,312 (GRCm39) |
T374A |
probably benign |
Het |
| Agps |
T |
A |
2: 75,698,657 (GRCm39) |
H348Q |
possibly damaging |
Het |
| Ankrd34b |
C |
A |
13: 92,574,795 (GRCm39) |
T9K |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,138,328 (GRCm39) |
Q1203R |
probably damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,644,388 (GRCm39) |
N123D |
probably damaging |
Het |
| Ccn6 |
A |
G |
10: 39,034,261 (GRCm39) |
C114R |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,811,227 (GRCm39) |
T358A |
probably benign |
Het |
| Cfh |
A |
T |
1: 140,014,259 (GRCm39) |
H1188Q |
probably damaging |
Het |
| Cisd1 |
A |
G |
10: 71,172,190 (GRCm39) |
Y31H |
probably damaging |
Het |
| Cnga1 |
G |
A |
5: 72,762,701 (GRCm39) |
S271F |
possibly damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,370,025 (GRCm39) |
T881A |
probably benign |
Het |
| Cracd |
T |
A |
5: 77,004,449 (GRCm39) |
L270Q |
unknown |
Het |
| Cyp2s1 |
A |
T |
7: 25,505,398 (GRCm39) |
D355E |
possibly damaging |
Het |
| Dnaaf10 |
A |
G |
11: 17,182,712 (GRCm39) |
Y291C |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,951,177 (GRCm39) |
R3044W |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 118,006,022 (GRCm39) |
D730G |
probably benign |
Het |
| Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Flacc1 |
A |
T |
1: 58,706,023 (GRCm39) |
I282N |
probably benign |
Het |
| Fsd2 |
A |
G |
7: 81,184,928 (GRCm39) |
I656T |
probably damaging |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gm45871 |
A |
T |
18: 90,609,224 (GRCm39) |
H154L |
probably benign |
Het |
| Golgb1 |
T |
A |
16: 36,718,908 (GRCm39) |
N312K |
probably benign |
Het |
| H2ac4 |
A |
G |
13: 23,935,333 (GRCm39) |
D73G |
possibly damaging |
Het |
| Hsd17b4 |
T |
A |
18: 50,288,252 (GRCm39) |
H227Q |
probably damaging |
Het |
| Hsd17b6 |
A |
T |
10: 127,829,492 (GRCm39) |
S237T |
probably benign |
Het |
| Htra4 |
A |
T |
8: 25,523,713 (GRCm39) |
V284E |
probably damaging |
Het |
| Kcnv1 |
C |
T |
15: 44,972,638 (GRCm39) |
C415Y |
probably damaging |
Het |
| Kif11 |
T |
A |
19: 37,408,789 (GRCm39) |
L1037H |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,834,751 (GRCm39) |
T1347A |
probably benign |
Het |
| Lrrc32 |
G |
T |
7: 98,148,086 (GRCm39) |
E289* |
probably null |
Het |
| Neurl4 |
T |
C |
11: 69,799,408 (GRCm39) |
L928P |
probably damaging |
Het |
| Nos2 |
G |
A |
11: 78,840,916 (GRCm39) |
C788Y |
possibly damaging |
Het |
| Or2c1 |
A |
G |
16: 3,657,166 (GRCm39) |
T110A |
probably damaging |
Het |
| Or4x11 |
A |
G |
2: 89,868,156 (GRCm39) |
S298G |
probably benign |
Het |
| Or5m5 |
T |
C |
2: 85,814,687 (GRCm39) |
W168R |
possibly damaging |
Het |
| Pafah1b3 |
A |
G |
7: 24,995,491 (GRCm39) |
C156R |
probably benign |
Het |
| Pak1ip1 |
T |
G |
13: 41,162,371 (GRCm39) |
N151K |
probably damaging |
Het |
| Pax7 |
G |
A |
4: 139,507,060 (GRCm39) |
P326S |
probably benign |
Het |
| Pex11b |
G |
A |
3: 96,543,994 (GRCm39) |
A21T |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,516,488 (GRCm39) |
V546A |
probably benign |
Het |
| Ppat |
T |
A |
5: 77,067,711 (GRCm39) |
R260* |
probably null |
Het |
| Ppp1r13l |
C |
G |
7: 19,104,081 (GRCm39) |
S187R |
probably benign |
Het |
| Pwp2 |
C |
T |
10: 78,018,314 (GRCm39) |
G126R |
probably damaging |
Het |
| R3hdm1 |
A |
G |
1: 128,081,129 (GRCm39) |
D55G |
possibly damaging |
Het |
| Rev1 |
A |
T |
1: 38,113,488 (GRCm39) |
Y526* |
probably null |
Het |
| Rp1 |
A |
G |
1: 4,418,221 (GRCm39) |
W964R |
probably benign |
Het |
| Sarnp |
A |
G |
10: 128,669,247 (GRCm39) |
I35V |
probably damaging |
Het |
| Sec23a |
T |
C |
12: 59,013,785 (GRCm39) |
N730S |
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,011,535 (GRCm39) |
K374E |
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,122,577 (GRCm39) |
D446G |
probably benign |
Het |
| Sugct |
T |
A |
13: 17,819,399 (GRCm39) |
I149F |
probably damaging |
Het |
| Tle2 |
A |
G |
10: 81,416,152 (GRCm39) |
N142S |
probably damaging |
Het |
| Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,918,549 (GRCm39) |
Y1514N |
probably benign |
Het |
| Ubr4 |
C |
T |
4: 139,180,002 (GRCm39) |
S259L |
unknown |
Het |
| Utp20 |
A |
T |
10: 88,631,305 (GRCm39) |
L892Q |
probably benign |
Het |
| Zfp956 |
C |
T |
6: 47,940,853 (GRCm39) |
T404M |
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 |
|
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'- GTGCATCAGCGTTTGGAAGG -3'
(R):5'- TGCCTGTCGGTGTTCATCAC -3'
Sequencing Primer
(F):5'- CATCAGCGTTTGGAAGGCCATG -3'
(R):5'- ATCACGTTTGTGGTGGCTTTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation