Incidental Mutation 'R8123:Garnl3'
| ID |
631588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garnl3
|
| Ensembl Gene |
ENSMUSG00000038860 |
| Gene Name |
GTPase activating RANGAP domain-like 3 |
| Synonyms |
|
| MMRRC Submission |
067552-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R8123 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32876236-33021666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32994950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 20
(K20E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124000]
[ENSMUST00000127509]
[ENSMUST00000133135]
[ENSMUST00000137381]
|
| AlphaFold |
Q3V0G7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124000
AA Change: K60E
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123601
Gene: ENSMUSG00000038860
AA Change: K60E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127509
AA Change: K20E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133135
AA Change: K20E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137381
AA Change: K20E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.1594 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 99.0%
- 20x: 97.1%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer2 |
G |
T |
4: 86,805,272 (GRCm39) |
V79F |
probably damaging |
Het |
| Acvr2a |
T |
C |
2: 48,763,384 (GRCm39) |
S143P |
probably damaging |
Het |
| Adam22 |
T |
A |
5: 8,142,833 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,708,136 (GRCm39) |
F60S |
|
Het |
| Cacna1s |
A |
T |
1: 136,035,917 (GRCm39) |
I1386F |
probably damaging |
Het |
| Cav2 |
T |
A |
6: 17,286,992 (GRCm39) |
C145* |
probably null |
Het |
| Cc2d2a |
A |
T |
5: 43,867,896 (GRCm39) |
T847S |
probably benign |
Het |
| Ces2g |
T |
A |
8: 105,693,555 (GRCm39) |
M412K |
probably benign |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,179,704 (GRCm39) |
V746A |
probably damaging |
Het |
| Dnm3 |
A |
G |
1: 161,838,672 (GRCm39) |
S230P |
probably benign |
Het |
| Dph3 |
T |
C |
14: 31,805,157 (GRCm39) |
K77R |
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Fcgr4 |
A |
G |
1: 170,847,572 (GRCm39) |
I57V |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,712,836 (GRCm39) |
I201K |
probably benign |
Het |
| Foxc2 |
C |
T |
8: 121,843,601 (GRCm39) |
A83V |
probably damaging |
Het |
| Gtf2e1 |
A |
T |
16: 37,336,105 (GRCm39) |
Y290N |
possibly damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,303,196 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
G |
A |
2: 79,146,027 (GRCm39) |
S743N |
probably benign |
Het |
| Lamp1 |
A |
G |
8: 13,217,158 (GRCm39) |
I56V |
probably benign |
Het |
| Lipt2 |
A |
G |
7: 99,808,586 (GRCm39) |
D33G |
probably benign |
Het |
| Mat2a |
A |
G |
6: 72,411,321 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,064,135 (GRCm39) |
E65G |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,207,845 (GRCm39) |
L58P |
probably damaging |
Het |
| Ngly1 |
T |
A |
14: 16,260,799 (GRCm38) |
M161K |
probably benign |
Het |
| Nod1 |
C |
T |
6: 54,914,391 (GRCm39) |
G801R |
probably damaging |
Het |
| Npy1r |
A |
T |
8: 67,157,619 (GRCm39) |
I310F |
probably damaging |
Het |
| Or14j2 |
G |
C |
17: 37,885,653 (GRCm39) |
H220Q |
probably benign |
Het |
| Or5k1b |
T |
A |
16: 58,581,537 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pde3a |
A |
T |
6: 141,411,917 (GRCm39) |
Y497F |
probably benign |
Het |
| Pecr |
A |
T |
1: 72,314,094 (GRCm39) |
S153T |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,098,956 (GRCm39) |
V1976A |
|
Het |
| Plrg1 |
G |
A |
3: 82,973,237 (GRCm39) |
A181T |
probably benign |
Het |
| Pou2f2 |
T |
C |
7: 24,796,433 (GRCm39) |
K322R |
possibly damaging |
Het |
| Ppp1r17 |
T |
A |
6: 55,999,443 (GRCm39) |
D25E |
probably damaging |
Het |
| Radil |
A |
C |
5: 142,473,375 (GRCm39) |
Y769D |
probably damaging |
Het |
| Ric8b |
A |
G |
10: 84,805,737 (GRCm39) |
N283D |
probably damaging |
Het |
| Spata3 |
C |
T |
1: 85,952,075 (GRCm39) |
R110C |
unknown |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Traj39 |
G |
A |
14: 54,417,451 (GRCm39) |
G11R |
|
Het |
| Ugt2b36 |
G |
A |
5: 87,240,295 (GRCm39) |
P30L |
probably damaging |
Het |
| Vipr1 |
C |
A |
9: 121,498,518 (GRCm39) |
P423T |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,625,066 (GRCm39) |
E2731G |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,801,248 (GRCm39) |
M1056K |
possibly damaging |
Het |
|
| Other mutations in Garnl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01102:Garnl3
|
APN |
2 |
32,896,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01601:Garnl3
|
APN |
2 |
32,887,701 (GRCm39) |
nonsense |
probably null |
|
|
IGL01981:Garnl3
|
APN |
2 |
32,887,741 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02209:Garnl3
|
APN |
2 |
32,975,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02434:Garnl3
|
APN |
2 |
32,944,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02512:Garnl3
|
APN |
2 |
32,921,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02947:Garnl3
|
APN |
2 |
32,936,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4403001:Garnl3
|
UTSW |
2 |
32,880,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0123:Garnl3
|
UTSW |
2 |
32,896,816 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0134:Garnl3
|
UTSW |
2 |
32,896,816 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0225:Garnl3
|
UTSW |
2 |
32,896,816 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0551:Garnl3
|
UTSW |
2 |
32,906,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0691:Garnl3
|
UTSW |
2 |
32,975,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0693:Garnl3
|
UTSW |
2 |
32,975,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0737:Garnl3
|
UTSW |
2 |
32,880,654 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1350:Garnl3
|
UTSW |
2 |
32,942,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1691:Garnl3
|
UTSW |
2 |
32,887,675 (GRCm39) |
nonsense |
probably null |
|
|
R1791:Garnl3
|
UTSW |
2 |
32,924,139 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1938:Garnl3
|
UTSW |
2 |
32,895,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2100:Garnl3
|
UTSW |
2 |
32,936,657 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2316:Garnl3
|
UTSW |
2 |
32,895,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2353:Garnl3
|
UTSW |
2 |
32,954,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3161:Garnl3
|
UTSW |
2 |
32,924,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3839:Garnl3
|
UTSW |
2 |
32,879,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3847:Garnl3
|
UTSW |
2 |
32,882,240 (GRCm39) |
missense |
probably benign |
|
|
R4871:Garnl3
|
UTSW |
2 |
32,977,100 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
|
R5682:Garnl3
|
UTSW |
2 |
32,944,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5811:Garnl3
|
UTSW |
2 |
32,896,911 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6267:Garnl3
|
UTSW |
2 |
32,994,892 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6502:Garnl3
|
UTSW |
2 |
32,896,833 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6532:Garnl3
|
UTSW |
2 |
32,921,131 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6639:Garnl3
|
UTSW |
2 |
32,879,537 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6763:Garnl3
|
UTSW |
2 |
32,944,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6866:Garnl3
|
UTSW |
2 |
32,892,785 (GRCm39) |
splice site |
probably null |
|
|
R6913:Garnl3
|
UTSW |
2 |
32,876,841 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7002:Garnl3
|
UTSW |
2 |
32,944,205 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7168:Garnl3
|
UTSW |
2 |
32,885,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7341:Garnl3
|
UTSW |
2 |
32,924,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7746:Garnl3
|
UTSW |
2 |
32,882,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7919:Garnl3
|
UTSW |
2 |
32,936,611 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8079:Garnl3
|
UTSW |
2 |
32,908,511 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8087:Garnl3
|
UTSW |
2 |
32,935,548 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8170:Garnl3
|
UTSW |
2 |
32,905,235 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8347:Garnl3
|
UTSW |
2 |
32,975,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8418:Garnl3
|
UTSW |
2 |
32,942,158 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8679:Garnl3
|
UTSW |
2 |
32,916,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8940:Garnl3
|
UTSW |
2 |
32,895,241 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9081:Garnl3
|
UTSW |
2 |
32,896,920 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9183:Garnl3
|
UTSW |
2 |
32,895,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9213:Garnl3
|
UTSW |
2 |
32,895,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9219:Garnl3
|
UTSW |
2 |
32,975,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9453:Garnl3
|
UTSW |
2 |
32,893,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Garnl3
|
UTSW |
2 |
32,912,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Garnl3
|
UTSW |
2 |
32,916,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Garnl3
|
UTSW |
2 |
32,895,191 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATGCCCAGTGAAAACTGCC -3'
(R):5'- CCTCCTGAACCTTAAGGCTGTC -3'
Sequencing Primer
(F):5'- CCGAATATGTAAGGACGACGTCTC -3'
(R):5'- GAACCTTAAGGCTGTCGTCCTTAAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation