Incidental Mutation 'R1350:Garnl3'
ID |
159508 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Garnl3
|
Ensembl Gene |
ENSMUSG00000038860 |
Gene Name |
GTPase activating RANGAP domain-like 3 |
Synonyms |
|
MMRRC Submission |
039415-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R1350 (G1)
|
Quality Score |
195 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
32876236-33021666 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32942226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 85
(V85A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099874
(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: V89A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000057582 Gene: ENSMUSG00000038860 AA Change: V89A
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: V85A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099874 Gene: ENSMUSG00000038860 AA Change: V85A
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 |
probably benign
Transcript: ENSMUST00000133135
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135296
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137381
AA Change: V130A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139778
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148043
|
Meta Mutation Damage Score |
0.0908 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.1%
|
Validation Efficiency |
95% (57/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago4 |
A |
G |
4: 126,400,925 (GRCm39) |
V640A |
probably benign |
Het |
AI661453 |
C |
T |
17: 47,778,853 (GRCm39) |
Q860* |
probably null |
Het |
Atp10d |
A |
G |
5: 72,418,469 (GRCm39) |
|
probably benign |
Het |
Axdnd1 |
A |
G |
1: 156,205,950 (GRCm39) |
|
probably null |
Het |
Bivm |
T |
A |
1: 44,165,863 (GRCm39) |
N104K |
possibly damaging |
Het |
Capn15 |
A |
G |
17: 26,183,666 (GRCm39) |
S338P |
probably benign |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Ccn6 |
C |
T |
10: 39,034,302 (GRCm39) |
C100Y |
probably damaging |
Het |
Col13a1 |
G |
A |
10: 61,729,848 (GRCm39) |
|
probably benign |
Het |
Crb2 |
A |
G |
2: 37,682,081 (GRCm39) |
N821D |
probably damaging |
Het |
D5Ertd579e |
T |
A |
5: 36,771,081 (GRCm39) |
I1105F |
probably damaging |
Het |
Dnaja2 |
A |
T |
8: 86,266,717 (GRCm39) |
F337I |
probably damaging |
Het |
Dntt |
C |
T |
19: 41,025,578 (GRCm39) |
|
probably benign |
Het |
Dock3 |
C |
T |
9: 106,791,831 (GRCm39) |
E1381K |
possibly damaging |
Het |
Fibp |
T |
C |
19: 5,511,419 (GRCm39) |
Y96H |
probably damaging |
Het |
Gsdme |
A |
T |
6: 50,223,108 (GRCm39) |
|
probably null |
Het |
Gucy2c |
A |
T |
6: 136,720,912 (GRCm39) |
|
probably null |
Het |
Hectd1 |
A |
G |
12: 51,809,217 (GRCm39) |
V1748A |
probably benign |
Het |
Hepacam2 |
G |
A |
6: 3,467,530 (GRCm39) |
Q384* |
probably null |
Het |
Itga10 |
T |
A |
3: 96,564,793 (GRCm39) |
M961K |
probably benign |
Het |
Kcnk1 |
C |
T |
8: 126,751,967 (GRCm39) |
T191I |
probably benign |
Het |
Khdrbs1 |
G |
A |
4: 129,614,545 (GRCm39) |
P336L |
probably benign |
Het |
Klhdc2 |
T |
A |
12: 69,352,484 (GRCm39) |
|
probably null |
Het |
Lipc |
T |
C |
9: 70,705,649 (GRCm39) |
H478R |
probably benign |
Het |
Lrp12 |
A |
T |
15: 39,741,646 (GRCm39) |
C356* |
probably null |
Het |
Nf1 |
T |
A |
11: 79,303,513 (GRCm39) |
C397S |
probably damaging |
Het |
Nox3 |
A |
G |
17: 3,700,396 (GRCm39) |
F439S |
probably damaging |
Het |
Or12e9 |
T |
A |
2: 87,202,701 (GRCm39) |
V275E |
probably benign |
Het |
Or13a18 |
T |
C |
7: 140,190,622 (GRCm39) |
V181A |
probably damaging |
Het |
Or3a1b |
T |
C |
11: 74,013,039 (GRCm39) |
L308P |
possibly damaging |
Het |
Or4b12 |
A |
T |
2: 90,096,690 (GRCm39) |
L28Q |
probably damaging |
Het |
Or51b17 |
A |
G |
7: 103,542,937 (GRCm39) |
W2R |
probably benign |
Het |
Or7g29 |
T |
G |
9: 19,286,710 (GRCm39) |
S156R |
possibly damaging |
Het |
Or8b37 |
G |
A |
9: 37,959,111 (GRCm39) |
V198I |
probably benign |
Het |
Pcif1 |
T |
C |
2: 164,728,687 (GRCm39) |
F288L |
probably damaging |
Het |
Prxl2b |
C |
A |
4: 154,982,585 (GRCm39) |
R107L |
probably damaging |
Het |
Skint7 |
G |
T |
4: 111,837,521 (GRCm39) |
A100S |
possibly damaging |
Het |
Ssu2 |
A |
T |
6: 112,351,807 (GRCm39) |
L306* |
probably null |
Het |
Tasp1 |
T |
C |
2: 139,899,341 (GRCm39) |
E4G |
probably damaging |
Het |
Tfb1m |
A |
T |
17: 3,595,955 (GRCm39) |
D99E |
probably benign |
Het |
Ube3b |
A |
G |
5: 114,544,198 (GRCm39) |
|
probably null |
Het |
Uox |
A |
G |
3: 146,330,330 (GRCm39) |
D162G |
probably damaging |
Het |
Usp18 |
A |
G |
6: 121,239,651 (GRCm39) |
T249A |
possibly damaging |
Het |
Vmn1r202 |
T |
C |
13: 22,685,886 (GRCm39) |
N177S |
probably benign |
Het |
Vwa2 |
T |
A |
19: 56,897,558 (GRCm39) |
M621K |
probably damaging |
Het |
Wdfy3 |
C |
A |
5: 102,046,418 (GRCm39) |
D1797Y |
probably damaging |
Het |
Ylpm1 |
A |
T |
12: 85,060,856 (GRCm39) |
|
probably benign |
Het |
Zbtb9 |
G |
A |
17: 27,193,380 (GRCm39) |
V262I |
probably benign |
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 |
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 |
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'- AGGCGACATCAAACTCAAGTCAGG -3'
(R):5'- CAGCATCCAAAGAGCTGATGCAAAG -3'
Sequencing Primer
(F):5'- GGTACTTACTGTTTTCCGCCAAAG -3'
(R):5'- tctcgtccgtctcagcc -3'
|
Posted On |
2014-03-14 |