Incidental Mutation 'R3083:Gas2l3'
ID | 264072 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gas2l3
|
Ensembl Gene |
ENSMUSG00000074802 |
Gene Name | growth arrest-specific 2 like 3 |
Synonyms | 8430435B07Rik, LOC237436 |
Accession Numbers | |
Is this an essential gene? |
Probably non essential (E-score: 0.210)
|
Stock # | R3083 (G1)
|
Quality Score | 217 |
Status |
Not validated
|
Chromosome | 10 |
Chromosomal Location | 89408823-89443967 bp(-) (GRCm38) |
Type of Mutation | small deletion (3 aa in frame mutation) |
DNA Base Change (assembly) |
CACTCGTCATACT to CACT
at 89430958 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099374]
[ENSMUST00000105298]
[ENSMUST00000218764]
[ENSMUST00000219351]
[ENSMUST00000220071]
[ENSMUST00000220128]
[ENSMUST00000220234]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099374
|
SMART Domains |
Protein: ENSMUSP00000096973 Gene: ENSMUSG00000074802
Domain | Start | End | E-Value | Type |
CH
|
52 |
166 |
1.71e-9 |
SMART |
low complexity region
|
179 |
194 |
N/A |
INTRINSIC |
Pfam:GAS2
|
215 |
284 |
1.8e-29 |
PFAM |
low complexity region
|
446 |
460 |
N/A |
INTRINSIC |
low complexity region
|
630 |
643 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105298
|
SMART Domains |
Protein: ENSMUSP00000100935 Gene: ENSMUSG00000074802
Domain | Start | End | E-Value | Type |
CH
|
52 |
166 |
1.71e-9 |
SMART |
low complexity region
|
179 |
194 |
N/A |
INTRINSIC |
Pfam:GAS2
|
213 |
286 |
1.5e-31 |
PFAM |
low complexity region
|
446 |
460 |
N/A |
INTRINSIC |
low complexity region
|
630 |
643 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218764
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219073
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219351
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220071
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220128
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220234
|
Meta Mutation Damage Score |
0.0898
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display partial postnatal lethality with none surviving past 4 months, dilated cardiomyopathy, cardiac interstitial fibrosis, and premature binucleation of cardiomyocytes. [provided by MGI curators]
|
Allele List at MGI | |
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss3 |
A |
G |
10: 107,023,715 |
V341A |
possibly damaging |
Het |
Armc2 |
T |
C |
10: 41,966,730 |
D359G |
probably damaging |
Het |
Cdh6 |
T |
C |
15: 13,044,752 |
D428G |
probably damaging |
Het |
Dennd4a |
A |
G |
9: 64,906,081 |
N1441D |
probably benign |
Het |
Fbln1 |
T |
G |
15: 85,265,253 |
I617S |
probably benign |
Het |
Gm15446 |
A |
G |
5: 109,943,292 |
N470S |
possibly damaging |
Het |
Grin3a |
G |
A |
4: 49,665,243 |
R1131W |
probably benign |
Het |
Hist3h2ba |
A |
G |
11: 58,948,976 |
K13E |
probably benign |
Het |
Incenp |
T |
A |
19: 9,883,779 |
M480L |
unknown |
Het |
Lrp1b |
A |
T |
2: 40,600,324 |
M275K |
probably damaging |
Het |
Lrrc14b |
C |
T |
13: 74,363,218 |
D248N |
possibly damaging |
Het |
Nlrp5 |
T |
C |
7: 23,430,163 |
F885S |
probably benign |
Het |
Olfr102 |
T |
C |
17: 37,314,195 |
N63S |
probably damaging |
Het |
Olfr1228 |
A |
C |
2: 89,249,001 |
V231G |
probably damaging |
Het |
Olfr917 |
A |
G |
9: 38,665,616 |
V76A |
probably damaging |
Het |
Plcl2 |
T |
A |
17: 50,687,744 |
N1080K |
probably benign |
Het |
Rab3gap2 |
T |
A |
1: 185,204,269 |
S10T |
probably benign |
Het |
Rtca |
G |
A |
3: 116,508,025 |
|
probably benign |
Het |
Scn1a |
A |
G |
2: 66,299,637 |
F1278S |
probably damaging |
Het |
Slitrk3 |
T |
C |
3: 73,048,595 |
D948G |
probably benign |
Het |
Smu1 |
T |
C |
4: 40,745,567 |
D251G |
probably damaging |
Het |
Ssh3 |
C |
T |
19: 4,262,559 |
R586H |
probably benign |
Het |
Tomm40l |
A |
T |
1: 171,221,211 |
L78H |
probably damaging |
Het |
Vmn2r4 |
A |
G |
3: 64,389,367 |
S666P |
probably damaging |
Het |
|
Other mutations in Gas2l3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00321:Gas2l3
|
APN |
10 |
89413627 |
missense |
probably benign |
0.00 |
IGL01148:Gas2l3
|
APN |
10 |
89413504 |
missense |
probably benign |
0.25 |
R0472:Gas2l3
|
UTSW |
10 |
89426477 |
missense |
probably damaging |
1.00 |
R0578:Gas2l3
|
UTSW |
10 |
89417075 |
missense |
probably damaging |
1.00 |
R0720:Gas2l3
|
UTSW |
10 |
89413943 |
missense |
probably benign |
0.00 |
R1386:Gas2l3
|
UTSW |
10 |
89414353 |
missense |
possibly damaging |
0.77 |
R1470:Gas2l3
|
UTSW |
10 |
89413934 |
missense |
probably benign |
|
R1470:Gas2l3
|
UTSW |
10 |
89413934 |
missense |
probably benign |
|
R1530:Gas2l3
|
UTSW |
10 |
89433769 |
missense |
probably benign |
0.02 |
R1733:Gas2l3
|
UTSW |
10 |
89414265 |
missense |
probably damaging |
1.00 |
R1772:Gas2l3
|
UTSW |
10 |
89417014 |
unclassified |
probably benign |
|
R1840:Gas2l3
|
UTSW |
10 |
89422251 |
missense |
possibly damaging |
0.79 |
R2168:Gas2l3
|
UTSW |
10 |
89414098 |
missense |
probably benign |
0.01 |
R3082:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R4639:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R4641:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R4642:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R4643:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R4644:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R4645:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R4809:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R4810:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R4820:Gas2l3
|
UTSW |
10 |
89417045 |
missense |
probably damaging |
1.00 |
R4852:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R4853:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R4855:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R4865:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R4900:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R4906:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R4926:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R4946:Gas2l3
|
UTSW |
10 |
89413772 |
missense |
probably benign |
|
R5072:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R5073:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R5074:Gas2l3
|
UTSW |
10 |
89430958 |
small deletion |
probably benign |
|
R5137:Gas2l3
|
UTSW |
10 |
89413975 |
missense |
probably damaging |
1.00 |
R5579:Gas2l3
|
UTSW |
10 |
89414066 |
missense |
probably benign |
|
R5919:Gas2l3
|
UTSW |
10 |
89417055 |
missense |
probably damaging |
1.00 |
R6573:Gas2l3
|
UTSW |
10 |
89422210 |
splice site |
probably null |
|
R6763:Gas2l3
|
UTSW |
10 |
89413369 |
missense |
probably benign |
0.00 |
R6961:Gas2l3
|
UTSW |
10 |
89413291 |
missense |
probably benign |
0.00 |
R7491:Gas2l3
|
UTSW |
10 |
89413901 |
missense |
probably benign |
0.02 |
R7707:Gas2l3
|
UTSW |
10 |
89414358 |
missense |
probably damaging |
1.00 |
R7806:Gas2l3
|
UTSW |
10 |
89413370 |
missense |
probably benign |
0.00 |
R8167:Gas2l3
|
UTSW |
10 |
89426480 |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGCCTGACTCTGACATTC -3'
(R):5'- TGACATCAACCACTGTATTCAATGC -3'
Sequencing Primer
(F):5'- GGCCTGACTCTGACATTCACTGAG -3'
(R):5'- ACAATTTTGCTTATTCTGGATGGTC -3'
|
Posted On | 2015-02-05 |