Incidental Mutation 'R5804:Lrrc8c'
| ID |
448398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc8c
|
| Ensembl Gene |
ENSMUSG00000054720 |
| Gene Name |
leucine rich repeat containing 8 family, member C |
| Synonyms |
E430036I04Rik |
| MMRRC Submission |
043211-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5804 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
105667254-105760884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105727423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 29
(D29V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067924]
[ENSMUST00000150981]
[ENSMUST00000153754]
|
| AlphaFold |
Q8R502 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067924
AA Change: D29V
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066015
Gene: ENSMUSG00000054720
AA Change: D29V
| 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 |
noncoding transcript
Transcript: ENSMUST00000150195
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150981
AA Change: D29V
PolyPhen 2
Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153754
AA Change: D29V
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114899
Gene: ENSMUSG00000054720
AA Change: D29V
| 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: 97.5%
- 20x: 95.8%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
T |
16: 8,396,100 (GRCm39) |
R19* |
probably null |
Het |
| Abcb9 |
A |
G |
5: 124,218,118 (GRCm39) |
M406T |
probably benign |
Het |
| Ager |
A |
G |
17: 34,817,157 (GRCm39) |
E32G |
probably damaging |
Het |
| Cdk10 |
T |
A |
8: 123,955,579 (GRCm39) |
|
probably null |
Het |
| Cfap97d1 |
A |
G |
11: 101,881,640 (GRCm39) |
N112S |
probably damaging |
Het |
| Ctsl |
A |
T |
13: 64,514,302 (GRCm39) |
Y259N |
probably damaging |
Het |
| Ctu2 |
T |
C |
8: 123,207,965 (GRCm39) |
|
probably null |
Het |
| Dse |
T |
A |
10: 34,029,375 (GRCm39) |
I572F |
possibly damaging |
Het |
| Flt1 |
A |
T |
5: 147,517,247 (GRCm39) |
|
probably null |
Het |
| Gatm |
T |
A |
2: 122,433,083 (GRCm39) |
Y193F |
probably benign |
Het |
| Gpaa1 |
T |
C |
15: 76,216,826 (GRCm39) |
F170S |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,620,155 (GRCm39) |
L363P |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,138,951 (GRCm39) |
P64S |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,026,455 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
A |
C |
10: 14,009,519 (GRCm39) |
K1725N |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,550,098 (GRCm39) |
C2695* |
probably null |
Het |
| Hmgcr |
G |
A |
13: 96,802,695 (GRCm39) |
T68M |
probably damaging |
Het |
| Igsf21 |
A |
T |
4: 139,755,385 (GRCm39) |
D423E |
possibly damaging |
Het |
| Jag1 |
T |
C |
2: 136,930,124 (GRCm39) |
N751S |
probably benign |
Het |
| Klrc2 |
A |
T |
6: 129,637,436 (GRCm39) |
N28K |
possibly damaging |
Het |
| Mtcl1 |
A |
C |
17: 66,650,132 (GRCm39) |
S1329A |
probably benign |
Het |
| Nin |
C |
T |
12: 70,092,375 (GRCm39) |
V645I |
possibly damaging |
Het |
| Or4c127 |
T |
C |
2: 89,833,332 (GRCm39) |
I194T |
possibly damaging |
Het |
| Or51i1 |
T |
C |
7: 103,671,439 (GRCm39) |
I29V |
probably benign |
Het |
| Or8s2 |
T |
A |
15: 98,276,215 (GRCm39) |
M259L |
probably benign |
Het |
| Or9g4 |
T |
A |
2: 85,504,682 (GRCm39) |
D271V |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,407,027 (GRCm39) |
H426L |
probably benign |
Het |
| Poteg |
A |
G |
8: 27,946,826 (GRCm39) |
D238G |
probably damaging |
Het |
| Psen1 |
T |
C |
12: 83,778,474 (GRCm39) |
F386L |
probably damaging |
Het |
| Rassf9 |
A |
T |
10: 102,380,905 (GRCm39) |
I96F |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,840,077 (GRCm39) |
|
probably null |
Het |
| Slc16a4 |
A |
T |
3: 107,206,280 (GRCm39) |
M117L |
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,689,506 (GRCm39) |
N372S |
possibly damaging |
Het |
| Stmn4 |
G |
A |
14: 66,593,748 (GRCm39) |
G47D |
probably benign |
Het |
| Tex26 |
A |
G |
5: 149,386,612 (GRCm39) |
N137S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,747,163 (GRCm39) |
I4629F |
probably benign |
Het |
| Ubash3a |
G |
A |
17: 31,427,206 (GRCm39) |
|
probably null |
Het |
| Ube3d |
T |
C |
9: 86,307,401 (GRCm39) |
I233V |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,297,369 (GRCm39) |
T680S |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,826,640 (GRCm39) |
T2846I |
probably benign |
Het |
| Zbtb22 |
TGGACCCGGGAC |
TGGACCCGGGACCCGGGAC |
17: 34,137,593 (GRCm39) |
|
probably null |
Het |
| Zfp41 |
C |
T |
15: 75,490,557 (GRCm39) |
P170S |
probably damaging |
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 |
|
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 |
|
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'- GGGTCCACAAAAGCATCTCG -3'
(R):5'- CAGATGGAGAAGACTGCTTAATGC -3'
Sequencing Primer
(F):5'- GTCCACAAAAGCATCTCGAGTGTTG -3'
(R):5'- CATCCTGTACAACGCTGGAGATTG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation