Incidental Mutation 'R0673:Lrrc8c'
ID |
61511 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc8c
|
Ensembl Gene |
ENSMUSG00000054720 |
Gene Name |
leucine rich repeat containing 8 family, member C |
Synonyms |
E430036I04Rik |
MMRRC Submission |
038858-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0673 (G1)
|
Quality Score |
101 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
105667254-105760884 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 105755544 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 440
(V440M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066015
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067924]
[ENSMUST00000153754]
|
AlphaFold |
Q8R502 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067924
AA Change: V440M
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000066015 Gene: ENSMUSG00000054720 AA Change: V440M
Domain | Start | End | E-Value | Type |
Pfam:Pannexin_like
|
1 |
338 |
5.7e-152 |
PFAM |
low complexity region
|
398 |
407 |
N/A |
INTRINSIC |
LRR
|
588 |
611 |
3.97e0 |
SMART |
LRR
|
613 |
635 |
1.81e2 |
SMART |
LRR
|
636 |
658 |
2.2e1 |
SMART |
LRR_TYP
|
659 |
682 |
1.45e-2 |
SMART |
LRR
|
684 |
703 |
3.56e2 |
SMART |
LRR
|
705 |
728 |
2.92e1 |
SMART |
LRR
|
751 |
774 |
1.09e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153754
|
SMART Domains |
Protein: ENSMUSP00000114899 Gene: ENSMUSG00000054720
Domain | Start | End | E-Value | Type |
Pfam:DUF3733
|
1 |
65 |
4.8e-35 |
PFAM |
low complexity region
|
78 |
93 |
N/A |
INTRINSIC |
Pfam:DUF3733
|
99 |
158 |
1.7e-26 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduction in body weight, white adipose tissue weight, and insulin resistance on a high-fat diet, indicating protection from diet-induced obesity and insulin resistance. [provided by MGI curators]
|
Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600014C23Rik |
C |
T |
17: 46,043,999 (GRCm39) |
W86* |
probably null |
Het |
2700049A03Rik |
C |
T |
12: 71,224,642 (GRCm39) |
P894S |
probably damaging |
Het |
Adgrg7 |
A |
T |
16: 56,593,849 (GRCm39) |
N122K |
possibly damaging |
Het |
Ankrd13d |
A |
T |
19: 4,323,047 (GRCm39) |
|
probably null |
Het |
Blm |
A |
T |
7: 80,149,499 (GRCm39) |
|
probably null |
Het |
Caml |
C |
T |
13: 55,779,641 (GRCm39) |
T238M |
probably damaging |
Het |
Casd1 |
T |
A |
6: 4,624,440 (GRCm39) |
V411D |
possibly damaging |
Het |
Cdc25b |
A |
G |
2: 131,039,182 (GRCm39) |
N516D |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,226,505 (GRCm39) |
I2861T |
probably damaging |
Het |
Csmd3 |
A |
G |
15: 47,777,336 (GRCm39) |
L1294P |
probably damaging |
Het |
Cxxc1 |
A |
G |
18: 74,351,984 (GRCm39) |
D287G |
possibly damaging |
Het |
Dgkq |
T |
C |
5: 108,803,455 (GRCm39) |
H217R |
probably damaging |
Het |
Disp2 |
A |
T |
2: 118,621,325 (GRCm39) |
I686F |
possibly damaging |
Het |
Dnah6 |
T |
A |
6: 73,100,794 (GRCm39) |
N2003I |
probably benign |
Het |
Dsc3 |
T |
A |
18: 20,122,647 (GRCm39) |
R92S |
probably damaging |
Het |
Ei24 |
T |
G |
9: 36,699,551 (GRCm39) |
|
probably null |
Het |
Fgl1 |
G |
T |
8: 41,644,661 (GRCm39) |
T281K |
probably benign |
Het |
Gbp3 |
A |
G |
3: 142,271,015 (GRCm39) |
T140A |
probably benign |
Het |
Gtpbp3 |
A |
T |
8: 71,945,379 (GRCm39) |
I485F |
probably damaging |
Het |
Harbi1 |
C |
T |
2: 91,542,880 (GRCm39) |
R114W |
probably damaging |
Het |
Inmt |
A |
C |
6: 55,148,212 (GRCm39) |
V139G |
probably damaging |
Het |
Inpp5j |
T |
A |
11: 3,451,147 (GRCm39) |
M501L |
probably benign |
Het |
Jmjd1c |
A |
G |
10: 67,062,588 (GRCm39) |
N1647S |
probably damaging |
Het |
Lgals9 |
A |
G |
11: 78,856,679 (GRCm39) |
F252L |
probably damaging |
Het |
Lingo3 |
C |
A |
10: 80,671,618 (GRCm39) |
R104L |
probably benign |
Het |
Mybpc3 |
G |
A |
2: 90,950,772 (GRCm39) |
G36D |
probably damaging |
Het |
Ncapd3 |
T |
A |
9: 26,998,773 (GRCm39) |
N1254K |
probably benign |
Het |
Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
Nudt12 |
A |
T |
17: 59,314,617 (GRCm39) |
|
probably null |
Het |
Or2l5 |
A |
G |
16: 19,334,146 (GRCm39) |
M80T |
probably damaging |
Het |
Or4c3d |
A |
C |
2: 89,882,596 (GRCm39) |
M24R |
probably benign |
Het |
Otop1 |
T |
C |
5: 38,445,292 (GRCm39) |
V150A |
possibly damaging |
Het |
Prr14l |
C |
T |
5: 32,986,259 (GRCm39) |
D1079N |
probably benign |
Het |
Rasal1 |
A |
G |
5: 120,808,449 (GRCm39) |
T494A |
probably benign |
Het |
Sacs |
A |
G |
14: 61,447,664 (GRCm39) |
K3237E |
possibly damaging |
Het |
Sh3d19 |
T |
C |
3: 86,014,280 (GRCm39) |
S415P |
probably benign |
Het |
Sypl1 |
A |
T |
12: 33,015,420 (GRCm39) |
T40S |
probably damaging |
Het |
Tg |
A |
T |
15: 66,613,333 (GRCm39) |
|
probably null |
Het |
Tmed8 |
A |
G |
12: 87,220,878 (GRCm39) |
V236A |
probably damaging |
Het |
Vmn1r33 |
T |
C |
6: 66,588,783 (GRCm39) |
Y257C |
probably damaging |
Het |
Yme1l1 |
T |
C |
2: 23,058,300 (GRCm39) |
F144S |
probably benign |
Het |
|
Other mutations in Lrrc8c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00538:Lrrc8c
|
APN |
5 |
105,755,076 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00736:Lrrc8c
|
APN |
5 |
105,754,980 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00822:Lrrc8c
|
APN |
5 |
105,756,174 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02009:Lrrc8c
|
APN |
5 |
105,755,257 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02156:Lrrc8c
|
APN |
5 |
105,755,359 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02266:Lrrc8c
|
APN |
5 |
105,756,114 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02268:Lrrc8c
|
APN |
5 |
105,755,764 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02487:Lrrc8c
|
APN |
5 |
105,754,457 (GRCm39) |
missense |
probably benign |
|
IGL02536:Lrrc8c
|
APN |
5 |
105,755,038 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02672:Lrrc8c
|
APN |
5 |
105,755,224 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02860:Lrrc8c
|
APN |
5 |
105,727,481 (GRCm39) |
splice site |
probably benign |
|
IGL03395:Lrrc8c
|
APN |
5 |
105,754,495 (GRCm39) |
missense |
probably benign |
|
Hand_grenade
|
UTSW |
5 |
105,754,954 (GRCm39) |
missense |
probably damaging |
1.00 |
Horseshoe
|
UTSW |
5 |
105,755,488 (GRCm39) |
missense |
probably damaging |
1.00 |
P0014:Lrrc8c
|
UTSW |
5 |
105,755,110 (GRCm39) |
missense |
probably benign |
0.06 |
PIT4504001:Lrrc8c
|
UTSW |
5 |
105,756,403 (GRCm39) |
missense |
probably benign |
|
PIT4651001:Lrrc8c
|
UTSW |
5 |
105,756,189 (GRCm39) |
missense |
probably benign |
0.04 |
R0196:Lrrc8c
|
UTSW |
5 |
105,754,636 (GRCm39) |
missense |
probably benign |
0.18 |
R0454:Lrrc8c
|
UTSW |
5 |
105,754,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R0565:Lrrc8c
|
UTSW |
5 |
105,754,894 (GRCm39) |
missense |
probably damaging |
0.98 |
R0722:Lrrc8c
|
UTSW |
5 |
105,727,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R0815:Lrrc8c
|
UTSW |
5 |
105,756,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R1177:Lrrc8c
|
UTSW |
5 |
105,754,702 (GRCm39) |
missense |
probably benign |
0.40 |
R1411:Lrrc8c
|
UTSW |
5 |
105,756,045 (GRCm39) |
missense |
probably damaging |
0.96 |
R1486:Lrrc8c
|
UTSW |
5 |
105,755,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R1551:Lrrc8c
|
UTSW |
5 |
105,756,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R1662:Lrrc8c
|
UTSW |
5 |
105,754,623 (GRCm39) |
missense |
probably benign |
0.22 |
R1714:Lrrc8c
|
UTSW |
5 |
105,755,157 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1770:Lrrc8c
|
UTSW |
5 |
105,754,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R2104:Lrrc8c
|
UTSW |
5 |
105,755,224 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2139:Lrrc8c
|
UTSW |
5 |
105,754,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R4425:Lrrc8c
|
UTSW |
5 |
105,755,755 (GRCm39) |
missense |
probably benign |
0.22 |
R4670:Lrrc8c
|
UTSW |
5 |
105,756,240 (GRCm39) |
missense |
probably benign |
|
R4897:Lrrc8c
|
UTSW |
5 |
105,755,955 (GRCm39) |
missense |
probably benign |
0.01 |
R4968:Lrrc8c
|
UTSW |
5 |
105,754,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R5114:Lrrc8c
|
UTSW |
5 |
105,755,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R5580:Lrrc8c
|
UTSW |
5 |
105,755,553 (GRCm39) |
missense |
probably benign |
0.00 |
R5804:Lrrc8c
|
UTSW |
5 |
105,727,423 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5918:Lrrc8c
|
UTSW |
5 |
105,756,117 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6293:Lrrc8c
|
UTSW |
5 |
105,754,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R6303:Lrrc8c
|
UTSW |
5 |
105,756,475 (GRCm39) |
missense |
probably benign |
0.31 |
R6304:Lrrc8c
|
UTSW |
5 |
105,756,475 (GRCm39) |
missense |
probably benign |
0.31 |
R7271:Lrrc8c
|
UTSW |
5 |
105,755,853 (GRCm39) |
missense |
probably benign |
0.02 |
R7341:Lrrc8c
|
UTSW |
5 |
105,755,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R7380:Lrrc8c
|
UTSW |
5 |
105,755,701 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7630:Lrrc8c
|
UTSW |
5 |
105,755,568 (GRCm39) |
missense |
probably damaging |
0.99 |
R7789:Lrrc8c
|
UTSW |
5 |
105,755,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R8128:Lrrc8c
|
UTSW |
5 |
105,755,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R8229:Lrrc8c
|
UTSW |
5 |
105,754,402 (GRCm39) |
missense |
probably benign |
0.00 |
R8247:Lrrc8c
|
UTSW |
5 |
105,756,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R8248:Lrrc8c
|
UTSW |
5 |
105,755,733 (GRCm39) |
missense |
probably benign |
|
R8890:Lrrc8c
|
UTSW |
5 |
105,754,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R9254:Lrrc8c
|
UTSW |
5 |
105,756,356 (GRCm39) |
nonsense |
probably null |
|
R9379:Lrrc8c
|
UTSW |
5 |
105,756,356 (GRCm39) |
nonsense |
probably null |
|
R9416:Lrrc8c
|
UTSW |
5 |
105,756,163 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGTTCCTGTCTGAAGTCAGCGAG -3'
(R):5'- TGCCATCATTGTGGACGCACATC -3'
Sequencing Primer
(F):5'- TGTCTGAAGTCAGCGAGAACAAG -3'
(R):5'- TTGAGGTCCCTCAGAGACTC -3'
|
Posted On |
2013-07-30 |