Incidental Mutation 'R1551:Lrrc8c'
| ID |
169915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc8c
|
| Ensembl Gene |
ENSMUSG00000054720 |
| Gene Name |
leucine rich repeat containing 8 family, member C |
| Synonyms |
E430036I04Rik |
| MMRRC Submission |
039590-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1551 (G1)
|
| Quality Score |
210 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
105667254-105760884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105756090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 622
(N622D)
|
| 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: N622D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066015
Gene: ENSMUSG00000054720
AA Change: N622D
| 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: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 83.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,918,101 (GRCm39) |
I1534M |
probably benign |
Het |
| Acad11 |
G |
A |
9: 104,003,785 (GRCm39) |
A626T |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,119,174 (GRCm39) |
N3560K |
probably benign |
Het |
| Aldh3a2 |
C |
T |
11: 61,144,470 (GRCm39) |
V363I |
probably benign |
Het |
| Anks1b |
A |
G |
10: 89,912,843 (GRCm39) |
T289A |
probably benign |
Het |
| Atp11a |
A |
G |
8: 12,862,340 (GRCm39) |
N64S |
probably damaging |
Het |
| Atp11c |
T |
C |
X: 59,282,072 (GRCm39) |
|
probably null |
Het |
| Cd101 |
T |
C |
3: 100,919,329 (GRCm39) |
H591R |
probably damaging |
Het |
| Cd36 |
C |
T |
5: 18,002,120 (GRCm39) |
V294I |
probably benign |
Het |
| Cfap47 |
C |
A |
X: 78,532,251 (GRCm39) |
L842F |
probably damaging |
Het |
| Cgref1 |
T |
C |
5: 31,090,929 (GRCm39) |
E295G |
probably benign |
Het |
| Cit |
A |
G |
5: 116,083,901 (GRCm39) |
M787V |
probably benign |
Het |
| Clcn6 |
G |
A |
4: 148,097,235 (GRCm39) |
P611S |
possibly damaging |
Het |
| Clec12a |
A |
C |
6: 129,327,384 (GRCm39) |
M1L |
probably damaging |
Het |
| Cmtm6 |
C |
T |
9: 114,575,573 (GRCm39) |
R161W |
probably damaging |
Het |
| Colec10 |
G |
T |
15: 54,325,658 (GRCm39) |
V163L |
probably damaging |
Het |
| Coq8b |
A |
G |
7: 26,956,907 (GRCm39) |
Y520C |
probably damaging |
Het |
| Ctsll3 |
C |
A |
13: 60,948,821 (GRCm39) |
E45* |
probably null |
Het |
| Dsg3 |
A |
G |
18: 20,669,975 (GRCm39) |
E663G |
possibly damaging |
Het |
| Dst |
G |
A |
1: 34,231,293 (GRCm39) |
R2962H |
probably benign |
Het |
| Etnk2 |
T |
C |
1: 133,300,995 (GRCm39) |
I254T |
probably damaging |
Het |
| Fbxo36 |
T |
C |
1: 84,858,835 (GRCm39) |
I40T |
probably damaging |
Het |
| Fgd2 |
G |
A |
17: 29,597,383 (GRCm39) |
V568M |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,356,207 (GRCm39) |
Y883H |
possibly damaging |
Het |
| Fpr-rs4 |
A |
T |
17: 18,242,589 (GRCm39) |
T199S |
possibly damaging |
Het |
| Gm12789 |
A |
G |
4: 101,846,131 (GRCm39) |
K131E |
probably benign |
Het |
| Gm17641 |
C |
A |
3: 68,777,448 (GRCm39) |
|
silent |
Het |
| Gm6665 |
G |
T |
18: 31,953,340 (GRCm39) |
R43S |
probably damaging |
Het |
| Gzmc |
T |
A |
14: 56,470,203 (GRCm39) |
H98L |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,491,528 (GRCm39) |
E75V |
probably damaging |
Het |
| Herc2 |
G |
T |
7: 55,796,417 (GRCm39) |
V1930L |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Htr6 |
A |
T |
4: 138,801,776 (GRCm39) |
C99* |
probably null |
Het |
| Lgals2 |
C |
T |
15: 78,736,511 (GRCm39) |
M16I |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,383,791 (GRCm39) |
I1613F |
possibly damaging |
Het |
| Oacyl |
C |
T |
18: 65,875,280 (GRCm39) |
R455C |
probably benign |
Het |
| Or13c25 |
A |
T |
4: 52,911,397 (GRCm39) |
Y132* |
probably null |
Het |
| Or5ac21 |
T |
A |
16: 59,123,766 (GRCm39) |
N84K |
probably benign |
Het |
| Or5bh3 |
T |
C |
X: 49,098,872 (GRCm39) |
T81A |
possibly damaging |
Het |
| Orm3 |
A |
G |
4: 63,275,146 (GRCm39) |
|
probably null |
Het |
| Phf2 |
G |
C |
13: 48,985,579 (GRCm39) |
T67S |
unknown |
Het |
| Phf2 |
A |
G |
13: 48,957,079 (GRCm39) |
L1096P |
probably damaging |
Het |
| Pigt |
T |
C |
2: 164,349,323 (GRCm39) |
V542A |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,937,720 (GRCm39) |
F992L |
probably benign |
Het |
| Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
| Pramel11 |
A |
G |
4: 143,622,263 (GRCm39) |
M364T |
probably benign |
Het |
| Prmt7 |
A |
G |
8: 106,964,014 (GRCm39) |
T303A |
probably benign |
Het |
| Prpf4b |
A |
T |
13: 35,078,426 (GRCm39) |
I679F |
possibly damaging |
Het |
| Psd4 |
T |
A |
2: 24,293,292 (GRCm39) |
M719K |
probably benign |
Het |
| Ranbp9 |
A |
T |
13: 43,578,593 (GRCm39) |
M160K |
probably benign |
Het |
| Rfc1 |
A |
G |
5: 65,434,706 (GRCm39) |
Y687H |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,883,423 (GRCm39) |
K119R |
probably damaging |
Het |
| Rnf113a1 |
T |
C |
X: 36,455,046 (GRCm39) |
M1T |
probably null |
Het |
| Rnf40 |
A |
C |
7: 127,195,506 (GRCm39) |
K511Q |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,800,029 (GRCm39) |
|
probably null |
Het |
| Scrib |
A |
T |
15: 75,937,011 (GRCm39) |
V365E |
probably damaging |
Het |
| Slc6a17 |
A |
G |
3: 107,379,443 (GRCm39) |
V575A |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,067,732 (GRCm39) |
N2053S |
possibly damaging |
Het |
| Ssbp2 |
G |
A |
13: 91,790,511 (GRCm39) |
|
probably null |
Het |
| Stab1 |
G |
T |
14: 30,882,456 (GRCm39) |
N460K |
probably benign |
Het |
| Tbc1d9 |
T |
A |
8: 83,992,787 (GRCm39) |
C964S |
probably benign |
Het |
| Tmed11 |
A |
G |
5: 108,927,680 (GRCm39) |
|
probably null |
Het |
| Tmem191 |
C |
A |
16: 17,095,984 (GRCm39) |
R285S |
probably damaging |
Het |
| Tpr |
T |
C |
1: 150,312,552 (GRCm39) |
S1917P |
probably benign |
Het |
| Vill |
A |
T |
9: 118,892,440 (GRCm39) |
H357L |
probably benign |
Het |
| Vmn1r229 |
A |
G |
17: 21,035,051 (GRCm39) |
T99A |
probably benign |
Het |
| Vmn2r14 |
A |
G |
5: 109,369,283 (GRCm39) |
S97P |
probably damaging |
Het |
| Wasf2 |
G |
T |
4: 132,917,483 (GRCm39) |
R194L |
unknown |
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 |
|
R0673:Lrrc8c
|
UTSW |
5 |
105,755,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- CGTCCACAATGATGGCACCAAACTG -3'
(R):5'- TCTGGGAGGCTCTCCACTTTGTTAC -3'
Sequencing Primer
(F):5'- TGGTGATGCTCAACAACCTG -3'
(R):5'- TGTCGTTATAGGACAAGTCCAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation