Incidental Mutation 'R2353:Garnl3'
ID |
246243 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Garnl3
|
Ensembl Gene |
ENSMUSG00000038860 |
Gene Name |
GTPase activating RANGAP domain-like 3 |
Synonyms |
|
MMRRC Submission |
040335-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R2353 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
32876236-33021666 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32954046 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 86
(R86S)
|
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: R45S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057582 Gene: ENSMUSG00000038860 AA Change: R45S
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: R41S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099874 Gene: ENSMUSG00000038860 AA Change: R41S
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: ENSMUST00000124000
AA Change: R126S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000123601 Gene: ENSMUSG00000038860 AA Change: R126S
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127509
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000133135
AA Change: R86S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135296
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137381
AA Change: R86S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139778
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148043
|
Meta Mutation Damage Score |
0.5965 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
G |
T |
4: 144,349,779 (GRCm39) |
E345D |
probably damaging |
Het |
Adam7 |
T |
A |
14: 68,742,537 (GRCm39) |
Q692L |
probably benign |
Het |
Ankk1 |
A |
C |
9: 49,329,990 (GRCm39) |
C322G |
probably benign |
Het |
Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
Apeh |
T |
C |
9: 107,963,491 (GRCm39) |
D577G |
possibly damaging |
Het |
Aspm |
T |
A |
1: 139,405,435 (GRCm39) |
W1441R |
probably damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Cd163 |
G |
T |
6: 124,296,115 (GRCm39) |
E820* |
probably null |
Het |
Cd38 |
T |
A |
5: 44,065,353 (GRCm39) |
|
probably null |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Enpp1 |
C |
A |
10: 24,527,239 (GRCm39) |
Q649H |
probably benign |
Het |
Gbe1 |
A |
G |
16: 70,233,909 (GRCm39) |
|
probably null |
Het |
Gm5117 |
A |
G |
8: 32,229,223 (GRCm39) |
|
noncoding transcript |
Het |
Hip1 |
A |
T |
5: 135,441,566 (GRCm39) |
V568E |
probably damaging |
Het |
Hspa14 |
G |
A |
2: 3,512,213 (GRCm39) |
|
probably null |
Het |
Lrrc4 |
A |
G |
6: 28,831,451 (GRCm39) |
F55L |
probably benign |
Het |
Med31 |
T |
A |
11: 72,104,966 (GRCm39) |
N35I |
probably damaging |
Het |
Msi1 |
C |
A |
5: 115,574,568 (GRCm39) |
|
probably benign |
Het |
Or1e34 |
T |
C |
11: 73,778,660 (GRCm39) |
I179M |
probably benign |
Het |
Or4b1 |
A |
T |
2: 89,980,062 (GRCm39) |
L96Q |
probably damaging |
Het |
Parl |
T |
C |
16: 20,105,790 (GRCm39) |
T211A |
probably benign |
Het |
Ppwd1 |
T |
C |
13: 104,350,090 (GRCm39) |
I432V |
probably benign |
Het |
Scn10a |
T |
A |
9: 119,467,753 (GRCm39) |
I796F |
probably damaging |
Het |
Semp2l2a |
T |
A |
8: 13,886,951 (GRCm39) |
E380V |
probably damaging |
Het |
Sh3rf3 |
A |
G |
10: 58,842,895 (GRCm39) |
D287G |
probably damaging |
Het |
Sin3b |
T |
C |
8: 73,450,780 (GRCm39) |
|
probably null |
Het |
Ubr4 |
T |
C |
4: 139,160,984 (GRCm39) |
I2493T |
possibly damaging |
Het |
Uts2 |
T |
A |
4: 151,084,593 (GRCm39) |
|
probably null |
Het |
Zfp109 |
T |
C |
7: 23,928,806 (GRCm39) |
D201G |
probably benign |
Het |
Zfp407 |
A |
G |
18: 84,578,005 (GRCm39) |
F1036S |
probably damaging |
Het |
Znrf3 |
T |
C |
11: 5,231,170 (GRCm39) |
E685G |
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 |
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'- GACCTTCTATGACCCCATAATGG -3'
(R):5'- CTCTTAAGGCCTCAAGGTTCC -3'
Sequencing Primer
(F):5'- ATGACCCCATAATGGTATTTCCC -3'
(R):5'- TTAAGGCCTCAAGGTTCCCAGAG -3'
|
Posted On |
2014-10-30 |