Incidental Mutation 'R6532:Garnl3'
ID |
522397 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Garnl3
|
Ensembl Gene |
ENSMUSG00000038860 |
Gene Name |
GTPase activating RANGAP domain-like 3 |
Synonyms |
|
MMRRC Submission |
044658-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R6532 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
32876236-33021666 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 32921131 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 298
(M298K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122576
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049618]
[ENSMUST00000102810]
[ENSMUST00000137381]
|
AlphaFold |
Q3V0G7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049618
AA Change: M257K
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000057582 Gene: ENSMUSG00000038860 AA Change: M257K
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 |
possibly damaging
Transcript: ENSMUST00000102810
AA Change: M253K
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099874 Gene: ENSMUSG00000038860 AA Change: M253K
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 |
possibly damaging
Transcript: ENSMUST00000137381
AA Change: M298K
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139778
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150242
|
Predicted Effect |
unknown
Transcript: ENSMUST00000193171
AA Change: M76K
|
Meta Mutation Damage Score |
0.9487 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
Validation Efficiency |
100% (34/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
G |
7: 45,626,803 (GRCm39) |
L1418P |
probably damaging |
Het |
Adal |
A |
G |
2: 120,976,604 (GRCm39) |
|
probably null |
Het |
Atr |
T |
A |
9: 95,790,461 (GRCm39) |
N1600K |
probably benign |
Het |
Cubn |
T |
C |
2: 13,463,813 (GRCm39) |
T631A |
probably benign |
Het |
Dpp9 |
C |
T |
17: 56,512,854 (GRCm39) |
G118D |
possibly damaging |
Het |
Ear1 |
C |
T |
14: 44,056,709 (GRCm39) |
R53H |
probably benign |
Het |
Exoc1 |
T |
C |
5: 76,685,684 (GRCm39) |
V132A |
probably damaging |
Het |
Fam227a |
C |
T |
15: 79,520,921 (GRCm39) |
R301Q |
probably benign |
Het |
Glb1l3 |
T |
C |
9: 26,729,738 (GRCm39) |
D619G |
probably benign |
Het |
Haspin |
A |
T |
11: 73,028,377 (GRCm39) |
C237* |
probably null |
Het |
Hook1 |
T |
G |
4: 95,907,993 (GRCm39) |
|
probably null |
Het |
Hoxa7 |
A |
G |
6: 52,194,295 (GRCm39) |
F31L |
probably benign |
Het |
Hoxb7 |
C |
A |
11: 96,177,714 (GRCm39) |
S54* |
probably null |
Het |
Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
Ifi207 |
A |
G |
1: 173,557,211 (GRCm39) |
V516A |
possibly damaging |
Het |
Inca1 |
T |
C |
11: 70,586,733 (GRCm39) |
M1V |
probably null |
Het |
Kcnt2 |
A |
G |
1: 140,511,844 (GRCm39) |
T933A |
probably damaging |
Het |
Lama4 |
G |
A |
10: 38,924,073 (GRCm39) |
D494N |
possibly damaging |
Het |
Lrp1 |
A |
C |
10: 127,377,551 (GRCm39) |
H4133Q |
probably damaging |
Het |
Lrp1 |
A |
G |
10: 127,385,276 (GRCm39) |
F3542L |
probably damaging |
Het |
Myo1f |
A |
G |
17: 33,794,820 (GRCm39) |
D20G |
probably damaging |
Het |
Nlk |
G |
T |
11: 78,586,881 (GRCm39) |
A71E |
probably damaging |
Het |
Nvl |
G |
A |
1: 180,971,708 (GRCm39) |
|
probably null |
Het |
Or9m1 |
A |
T |
2: 87,733,546 (GRCm39) |
I158N |
probably damaging |
Het |
Pakap |
T |
C |
4: 57,855,174 (GRCm39) |
F168L |
probably benign |
Het |
Pcnx1 |
C |
A |
12: 82,027,738 (GRCm39) |
H1601N |
probably damaging |
Het |
Pnkp |
T |
A |
7: 44,506,829 (GRCm39) |
M1K |
probably null |
Het |
Skic2 |
G |
A |
17: 35,063,719 (GRCm39) |
R575C |
probably damaging |
Het |
Slc25a54 |
A |
G |
3: 109,019,368 (GRCm39) |
Y324C |
probably damaging |
Het |
Tdrd3 |
A |
G |
14: 87,743,252 (GRCm39) |
E400G |
probably damaging |
Het |
Unc5b |
A |
G |
10: 60,614,607 (GRCm39) |
I230T |
possibly damaging |
Het |
Wfdc2 |
A |
G |
2: 164,405,296 (GRCm39) |
T50A |
probably benign |
Het |
Zfp563 |
A |
G |
17: 33,324,672 (GRCm39) |
I422M |
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 |
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 |
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'- AGTGCCTGAATTGGTAGCTG -3'
(R):5'- GGAGCCTCGTTCGAAGTAAAG -3'
Sequencing Primer
(F):5'- CTGGTAACTGAAGTGGAGCTCAC -3'
(R):5'- GCCTCGTTCGAAGTAAAGAGTTAACC -3'
|
Posted On |
2018-06-06 |