Incidental Mutation 'R5811:Garnl3'
| ID |
447502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garnl3
|
| Ensembl Gene |
ENSMUSG00000038860 |
| Gene Name |
GTPase activating RANGAP domain-like 3 |
| Synonyms |
|
| MMRRC Submission |
043213-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R5811 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32876236-33021666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32896911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 576
(L576P)
|
| 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: L535P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057582
Gene: ENSMUSG00000038860
AA Change: L535P
| 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: L531P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099874
Gene: ENSMUSG00000038860
AA Change: L531P
| 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: L576P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139778
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193214
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btnl1 |
A |
T |
17: 34,604,503 (GRCm39) |
K428M |
probably damaging |
Het |
| Chid1 |
G |
A |
7: 141,110,166 (GRCm39) |
T53M |
probably damaging |
Het |
| Clnk |
A |
G |
5: 38,870,490 (GRCm39) |
V356A |
probably damaging |
Het |
| Cryba4 |
C |
T |
5: 112,398,937 (GRCm39) |
V36I |
probably benign |
Het |
| Dct |
A |
G |
14: 118,250,600 (GRCm39) |
V466A |
probably benign |
Het |
| Dnmt3l |
A |
G |
10: 77,887,929 (GRCm39) |
D146G |
possibly damaging |
Het |
| Epas1 |
A |
G |
17: 87,131,203 (GRCm39) |
N328D |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 38,945,936 (GRCm39) |
R1610W |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,390,657 (GRCm39) |
V415A |
probably damaging |
Het |
| Gjd3 |
A |
T |
11: 98,873,226 (GRCm39) |
V206E |
possibly damaging |
Het |
| Gpr135 |
A |
T |
12: 72,116,641 (GRCm39) |
D375E |
possibly damaging |
Het |
| Gsdme |
T |
A |
6: 50,222,925 (GRCm39) |
Q130L |
probably benign |
Het |
| Hcls1 |
A |
G |
16: 36,777,702 (GRCm39) |
M274V |
probably null |
Het |
| Kcnn4 |
T |
C |
7: 24,077,030 (GRCm39) |
V193A |
probably damaging |
Het |
| Kctd16 |
T |
C |
18: 40,391,505 (GRCm39) |
V31A |
probably damaging |
Het |
| Lamc2 |
C |
T |
1: 153,041,999 (GRCm39) |
R45Q |
possibly damaging |
Het |
| Lrrc66 |
T |
A |
5: 73,772,860 (GRCm39) |
I203F |
possibly damaging |
Het |
| Mark4 |
T |
C |
7: 19,182,564 (GRCm39) |
D91G |
probably damaging |
Het |
| Mcm6 |
A |
T |
1: 128,263,465 (GRCm39) |
|
probably benign |
Het |
| Mecom |
C |
T |
3: 30,015,149 (GRCm39) |
S602N |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,352,721 (GRCm39) |
V736A |
possibly damaging |
Het |
| Nr2e3 |
TCCATCGGAGTGTTCCC |
TC |
9: 59,850,701 (GRCm39) |
|
probably benign |
Het |
| Or2h2c |
C |
A |
17: 37,422,649 (GRCm39) |
C75F |
probably benign |
Het |
| Pdia5 |
A |
T |
16: 35,269,790 (GRCm39) |
M173K |
possibly damaging |
Het |
| Pih1d2 |
T |
C |
9: 50,532,374 (GRCm39) |
L144P |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,077,024 (GRCm39) |
E577K |
possibly damaging |
Het |
| Samd4b |
T |
C |
7: 28,107,445 (GRCm39) |
S275G |
probably damaging |
Het |
| Sap130 |
T |
C |
18: 31,822,495 (GRCm39) |
V668A |
probably benign |
Het |
| Sema3c |
T |
A |
5: 17,880,188 (GRCm39) |
|
probably null |
Het |
| Slc9a8 |
C |
T |
2: 167,313,307 (GRCm39) |
R390* |
probably null |
Het |
| Vmn2r89 |
A |
T |
14: 51,693,565 (GRCm39) |
N305I |
probably benign |
Het |
| Wdr33 |
T |
C |
18: 32,035,673 (GRCm39) |
F1164L |
unknown |
Het |
| Zfp873 |
T |
A |
10: 81,896,567 (GRCm39) |
C470S |
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 |
|
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'- CAAACTTGCTGTGTGGCCAG -3'
(R):5'- CGGAGGGATAGAGAGTTTCATTCTC -3'
Sequencing Primer
(F):5'- CTTCCGTAGCCTGGGGATAGAATG -3'
(R):5'- TCTCCCACGATTGTGTAGAGCAAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation