Incidental Mutation 'R6763:Garnl3'
ID |
531769 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Garnl3
|
Ensembl Gene |
ENSMUSG00000038860 |
Gene Name |
GTPase activating RANGAP domain-like 3 |
Synonyms |
|
MMRRC Submission |
044879-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R6763 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
32876236-33021666 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32944208 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 117
(Y117C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122576
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049618]
[ENSMUST00000102810]
[ENSMUST00000124000]
[ENSMUST00000127509]
[ENSMUST00000133135]
[ENSMUST00000137381]
|
AlphaFold |
Q3V0G7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049618
AA Change: Y76C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057582 Gene: ENSMUSG00000038860 AA Change: Y76C
Domain | Start | End | E-Value | Type |
Pfam:Rap_GAP
|
202 |
383 |
3.4e-73 |
PFAM |
Pfam:CNH
|
475 |
780 |
3.5e-67 |
PFAM |
low complexity region
|
793 |
804 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102810
AA Change: Y72C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099874 Gene: ENSMUSG00000038860 AA Change: Y72C
Domain | Start | End | E-Value | Type |
Pfam:Rap_GAP
|
198 |
385 |
4.6e-67 |
PFAM |
Pfam:CNH
|
471 |
776 |
1.8e-68 |
PFAM |
low complexity region
|
789 |
800 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124000
|
SMART Domains |
Protein: ENSMUSP00000123601 Gene: ENSMUSG00000038860
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127509
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133135
AA Change: Y117C
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137381
AA Change: Y117C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
C |
A |
15: 102,248,457 (GRCm39) |
R286L |
probably null |
Het |
Actrt2 |
A |
G |
4: 154,751,836 (GRCm39) |
V100A |
probably damaging |
Het |
Adra1b |
A |
G |
11: 43,666,833 (GRCm39) |
L468P |
possibly damaging |
Het |
Ankhd1 |
A |
G |
18: 36,776,022 (GRCm39) |
E1457G |
probably benign |
Het |
Aspm |
A |
T |
1: 139,398,255 (GRCm39) |
M974L |
possibly damaging |
Het |
Atp8a2 |
T |
A |
14: 60,245,857 (GRCm39) |
I612F |
probably benign |
Het |
Cabin1 |
A |
G |
10: 75,582,564 (GRCm39) |
L284P |
probably damaging |
Het |
Cand2 |
T |
A |
6: 115,776,930 (GRCm39) |
M1106K |
probably benign |
Het |
Ccbe1 |
A |
T |
18: 66,194,459 (GRCm39) |
F376I |
possibly damaging |
Het |
Ceacam14 |
A |
G |
7: 17,549,268 (GRCm39) |
T220A |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,704,549 (GRCm39) |
D344G |
probably damaging |
Het |
Chaf1b |
A |
G |
16: 93,688,393 (GRCm39) |
K163E |
probably damaging |
Het |
Clec2d |
C |
A |
6: 129,161,107 (GRCm39) |
T68K |
probably benign |
Het |
Cwc27 |
T |
C |
13: 104,947,809 (GRCm39) |
T19A |
probably damaging |
Het |
Dnah7c |
A |
T |
1: 46,668,050 (GRCm39) |
Y1519F |
possibly damaging |
Het |
E130308A19Rik |
A |
T |
4: 59,752,288 (GRCm39) |
K467M |
probably damaging |
Het |
Gas2l3 |
T |
C |
10: 89,249,231 (GRCm39) |
Y629C |
probably benign |
Het |
Lama1 |
A |
G |
17: 68,053,868 (GRCm39) |
N470D |
unknown |
Het |
Lmtk2 |
T |
A |
5: 144,110,615 (GRCm39) |
I445N |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,261,570 (GRCm39) |
D1508G |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,416,021 (GRCm39) |
H2989R |
probably benign |
Het |
Niban2 |
T |
C |
2: 32,801,460 (GRCm39) |
|
probably null |
Het |
Nln |
A |
T |
13: 104,172,163 (GRCm39) |
W638R |
probably damaging |
Het |
Nup133 |
T |
C |
8: 124,671,017 (GRCm39) |
I127V |
possibly damaging |
Het |
Nup155 |
C |
T |
15: 8,165,379 (GRCm39) |
R672* |
probably null |
Het |
Prkcb |
A |
G |
7: 122,193,887 (GRCm39) |
Y532C |
probably damaging |
Het |
Ptpro |
A |
G |
6: 137,395,279 (GRCm39) |
|
probably null |
Het |
Rab11fip5 |
A |
G |
6: 85,319,152 (GRCm39) |
L579S |
probably benign |
Het |
Rtca |
A |
G |
3: 116,301,398 (GRCm39) |
|
probably null |
Het |
Sdccag8 |
A |
G |
1: 176,682,193 (GRCm39) |
|
probably null |
Het |
Svil |
G |
T |
18: 5,056,437 (GRCm39) |
D524Y |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,560,636 (GRCm39) |
N788S |
probably benign |
Het |
Wdfy4 |
G |
T |
14: 32,764,469 (GRCm39) |
R2140S |
probably damaging |
Het |
Zfp518a |
A |
G |
19: 40,902,192 (GRCm39) |
K707R |
probably 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 |
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 |
R8123:Garnl3
|
UTSW |
2 |
32,994,950 (GRCm39) |
missense |
probably damaging |
0.97 |
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'- GCTCTGAGTTGAAGCTTTTAGCC -3'
(R):5'- GACAGCCCTTATTCGTGTGC -3'
Sequencing Primer
(F):5'- GTTGAAGCTTTTAGCCCACGAAG -3'
(R):5'- GACAGCCCTTATTCGTGTGCTTTTAG -3'
|
Posted On |
2018-08-29 |