Incidental Mutation 'IGL02512:Garnl3'
| ID |
296577 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Garnl3
|
| Ensembl Gene |
ENSMUSG00000038860 |
| Gene Name |
GTPase activating RANGAP domain-like 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
IGL02512
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
32876236-33021666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32921150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 292
(Y292H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049618]
[ENSMUST00000102810]
[ENSMUST00000137381]
|
| AlphaFold |
Q3V0G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049618
AA Change: Y251H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000057582
Gene: ENSMUSG00000038860
AA Change: Y251H
| 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: Y247H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099874
Gene: ENSMUSG00000038860
AA Change: Y247H
| 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 damaging
Transcript: ENSMUST00000137381
AA Change: Y292H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139778
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150242
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000193171
AA Change: Y70H
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg10b |
C |
A |
15: 90,111,752 (GRCm39) |
H199N |
probably benign |
Het |
| Ankrd13a |
T |
A |
5: 114,924,827 (GRCm39) |
M104K |
probably benign |
Het |
| Ankrd37 |
A |
G |
8: 46,452,325 (GRCm39) |
L48P |
probably damaging |
Het |
| Ankzf1 |
T |
A |
1: 75,169,222 (GRCm39) |
L43M |
probably damaging |
Het |
| Ano10 |
A |
C |
9: 122,101,540 (GRCm39) |
V77G |
possibly damaging |
Het |
| Arg2 |
G |
A |
12: 79,194,517 (GRCm39) |
V114I |
probably benign |
Het |
| Asah1 |
A |
C |
8: 41,813,344 (GRCm39) |
|
probably benign |
Het |
| Clpx |
A |
C |
9: 65,217,533 (GRCm39) |
I34L |
probably benign |
Het |
| Cnga2 |
G |
A |
X: 71,052,531 (GRCm39) |
V469I |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,856,950 (GRCm39) |
|
probably benign |
Het |
| Eaf1 |
A |
G |
14: 31,219,743 (GRCm39) |
T61A |
possibly damaging |
Het |
| Exoc3l |
T |
A |
8: 106,017,115 (GRCm39) |
D624V |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,547,904 (GRCm39) |
D927G |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,180,380 (GRCm39) |
Y1801N |
probably damaging |
Het |
| Gpr174 |
A |
T |
X: 106,336,577 (GRCm39) |
K130* |
probably null |
Het |
| Greb1 |
C |
T |
12: 16,742,713 (GRCm39) |
V1379I |
possibly damaging |
Het |
| Grik2 |
A |
T |
10: 49,232,008 (GRCm39) |
D507E |
probably benign |
Het |
| Gsn |
A |
T |
2: 35,173,962 (GRCm39) |
K24* |
probably null |
Het |
| Ift80 |
A |
G |
3: 68,835,058 (GRCm39) |
|
probably null |
Het |
| Inpp5j |
T |
A |
11: 3,449,661 (GRCm39) |
Y707F |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,477,855 (GRCm39) |
D31E |
probably damaging |
Het |
| Kcnh1 |
T |
C |
1: 192,187,689 (GRCm39) |
F717L |
possibly damaging |
Het |
| Klhdc8a |
T |
C |
1: 132,230,895 (GRCm39) |
|
probably null |
Het |
| Klkb1 |
G |
A |
8: 45,729,277 (GRCm39) |
|
probably benign |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,292,160 (GRCm39) |
V305A |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,199,801 (GRCm39) |
|
probably null |
Het |
| Nampt |
T |
A |
12: 32,880,268 (GRCm39) |
Y54N |
possibly damaging |
Het |
| Neurog2 |
G |
T |
3: 127,427,504 (GRCm39) |
E43* |
probably null |
Het |
| Obscn |
C |
T |
11: 58,919,343 (GRCm39) |
R6887H |
probably damaging |
Het |
| Or10ag58 |
A |
G |
2: 87,265,402 (GRCm39) |
I190M |
possibly damaging |
Het |
| Or5ac25 |
T |
C |
16: 59,182,171 (GRCm39) |
N137D |
possibly damaging |
Het |
| Or6c203 |
A |
G |
10: 129,010,119 (GRCm39) |
I257T |
possibly damaging |
Het |
| Pdss1 |
A |
G |
2: 22,802,658 (GRCm39) |
I166V |
probably damaging |
Het |
| Phaf1 |
G |
A |
8: 105,961,110 (GRCm39) |
|
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,645,651 (GRCm39) |
T1096A |
probably benign |
Het |
| Reln |
A |
G |
5: 22,245,425 (GRCm39) |
Y728H |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,555,052 (GRCm39) |
D56G |
probably damaging |
Het |
| Shroom1 |
T |
A |
11: 53,357,386 (GRCm39) |
V683E |
probably damaging |
Het |
| Slc5a11 |
A |
G |
7: 122,864,478 (GRCm39) |
D358G |
probably damaging |
Het |
| Slfn3 |
T |
A |
11: 83,103,851 (GRCm39) |
S241T |
possibly damaging |
Het |
| Slitrk3 |
G |
A |
3: 72,957,735 (GRCm39) |
P346S |
probably benign |
Het |
| Specc1 |
T |
A |
11: 62,009,215 (GRCm39) |
S324T |
probably damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,389,123 (GRCm39) |
Y168H |
probably damaging |
Het |
| St3gal6 |
C |
T |
16: 58,293,822 (GRCm39) |
E236K |
probably benign |
Het |
| Tet2 |
A |
T |
3: 133,175,069 (GRCm39) |
M1426K |
probably benign |
Het |
| Tinag |
A |
T |
9: 76,939,069 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,993,415 (GRCm39) |
S53P |
probably damaging |
Het |
| Uimc1 |
T |
C |
13: 55,188,431 (GRCm39) |
T543A |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,764,448 (GRCm39) |
W2147R |
probably benign |
Het |
| Zmym1 |
C |
T |
4: 126,942,465 (GRCm39) |
C641Y |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation