Incidental Mutation 'R4643:Gas2l3'
ID |
351740 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gas2l3
|
Ensembl Gene |
ENSMUSG00000074802 |
Gene Name |
growth arrest-specific 2 like 3 |
Synonyms |
LOC237436, 8430435B07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
R4643 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
89244685-89279829 bp(-) (GRCm39) |
Type of Mutation |
small deletion (3 aa in frame mutation) |
DNA Base Change (assembly) |
CACTCGTCATACT to CACT
at 89266820 bp (GRCm39)
|
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]
|
AlphaFold |
no structure available at present |
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
A |
G |
13: 119,611,396 (GRCm39) |
N398D |
probably damaging |
Het |
Adamtsl4 |
G |
A |
3: 95,591,929 (GRCm39) |
A58V |
possibly damaging |
Het |
Anapc2 |
T |
A |
2: 25,166,406 (GRCm39) |
V105E |
probably benign |
Het |
C3ar1 |
A |
T |
6: 122,827,933 (GRCm39) |
C95S |
probably damaging |
Het |
Ccdc87 |
G |
A |
19: 4,891,877 (GRCm39) |
G790R |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,391,786 (GRCm39) |
M682K |
probably benign |
Het |
Cyp2j13 |
T |
C |
4: 95,945,161 (GRCm39) |
Q289R |
possibly damaging |
Het |
Dclk2 |
A |
T |
3: 86,713,487 (GRCm39) |
M453K |
possibly damaging |
Het |
Dscam |
G |
A |
16: 96,486,501 (GRCm39) |
T1058M |
probably damaging |
Het |
Grip1 |
A |
G |
10: 119,856,006 (GRCm39) |
N659S |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,487,118 (GRCm39) |
K3371R |
possibly damaging |
Het |
Il1a |
T |
A |
2: 129,146,623 (GRCm39) |
T157S |
probably benign |
Het |
Il23r |
A |
G |
6: 67,400,977 (GRCm39) |
V451A |
probably benign |
Het |
Iqch |
T |
C |
9: 63,502,084 (GRCm39) |
T40A |
probably benign |
Het |
Irag2 |
A |
T |
6: 145,113,786 (GRCm39) |
D318V |
probably benign |
Het |
Kazald1 |
G |
T |
19: 45,066,788 (GRCm39) |
V196L |
probably benign |
Het |
L1td1 |
T |
C |
4: 98,626,120 (GRCm39) |
S772P |
probably damaging |
Het |
Lgi1 |
A |
T |
19: 38,289,158 (GRCm39) |
D145V |
probably damaging |
Het |
Lrp12 |
A |
T |
15: 39,735,418 (GRCm39) |
L838Q |
probably damaging |
Het |
Mrgprf |
C |
A |
7: 144,862,242 (GRCm39) |
P268Q |
probably benign |
Het |
Myef2 |
T |
C |
2: 124,958,731 (GRCm39) |
K66R |
possibly damaging |
Het |
Myo3b |
A |
G |
2: 70,069,186 (GRCm39) |
D475G |
possibly damaging |
Het |
Numa1 |
C |
G |
7: 101,649,872 (GRCm39) |
|
probably null |
Het |
Or6c214 |
T |
C |
10: 129,590,824 (GRCm39) |
E165G |
probably damaging |
Het |
Prdm8 |
T |
C |
5: 98,332,446 (GRCm39) |
S116P |
possibly damaging |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
R3hcc1l |
G |
T |
19: 42,551,239 (GRCm39) |
V79F |
probably benign |
Het |
Rasal1 |
C |
T |
5: 120,817,029 (GRCm39) |
T779I |
probably benign |
Het |
Scaper |
A |
C |
9: 55,745,463 (GRCm39) |
F596V |
probably damaging |
Het |
Slco2b1 |
C |
T |
7: 99,316,214 (GRCm39) |
V439M |
probably benign |
Het |
Slco6c1 |
A |
T |
1: 96,990,149 (GRCm39) |
D680E |
probably benign |
Het |
Smurf1 |
A |
T |
5: 144,816,179 (GRCm39) |
F725L |
probably damaging |
Het |
Snd1 |
A |
G |
6: 28,880,248 (GRCm39) |
E674G |
probably benign |
Het |
Srcap |
C |
T |
7: 127,140,948 (GRCm39) |
P1515L |
probably damaging |
Het |
Sycp2l |
A |
G |
13: 41,296,941 (GRCm39) |
M341V |
probably benign |
Het |
Tmprss6 |
T |
A |
15: 78,329,556 (GRCm39) |
I492F |
probably damaging |
Het |
Trip10 |
G |
T |
17: 57,568,658 (GRCm39) |
E416* |
probably null |
Het |
Tstd2 |
T |
C |
4: 46,129,297 (GRCm39) |
D177G |
possibly damaging |
Het |
Ugt1a5 |
A |
T |
1: 88,094,147 (GRCm39) |
N125I |
possibly damaging |
Het |
Vmn2r7 |
G |
T |
3: 64,623,825 (GRCm39) |
S165Y |
probably damaging |
Het |
Zfp663 |
A |
T |
2: 165,194,925 (GRCm39) |
H431Q |
probably benign |
Het |
|
Other mutations in Gas2l3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00321:Gas2l3
|
APN |
10 |
89,249,489 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01148:Gas2l3
|
APN |
10 |
89,249,366 (GRCm39) |
missense |
probably benign |
0.25 |
R0472:Gas2l3
|
UTSW |
10 |
89,262,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R0578:Gas2l3
|
UTSW |
10 |
89,252,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R0720:Gas2l3
|
UTSW |
10 |
89,249,805 (GRCm39) |
missense |
probably benign |
0.00 |
R1386:Gas2l3
|
UTSW |
10 |
89,250,215 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1470:Gas2l3
|
UTSW |
10 |
89,249,796 (GRCm39) |
missense |
probably benign |
|
R1470:Gas2l3
|
UTSW |
10 |
89,249,796 (GRCm39) |
missense |
probably benign |
|
R1530:Gas2l3
|
UTSW |
10 |
89,269,631 (GRCm39) |
missense |
probably benign |
0.02 |
R1733:Gas2l3
|
UTSW |
10 |
89,250,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R1772:Gas2l3
|
UTSW |
10 |
89,252,876 (GRCm39) |
unclassified |
probably benign |
|
R1840:Gas2l3
|
UTSW |
10 |
89,258,113 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2168:Gas2l3
|
UTSW |
10 |
89,249,960 (GRCm39) |
missense |
probably benign |
0.01 |
R3082:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R3083:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4639:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4641:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4642:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4644:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4645:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4809:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4810:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4820:Gas2l3
|
UTSW |
10 |
89,252,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R4852:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4853:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4855:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4865:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4900:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4906:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4926:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4946:Gas2l3
|
UTSW |
10 |
89,249,634 (GRCm39) |
missense |
probably benign |
|
R5072:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R5073:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R5074:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R5137:Gas2l3
|
UTSW |
10 |
89,249,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R5579:Gas2l3
|
UTSW |
10 |
89,249,928 (GRCm39) |
missense |
probably benign |
|
R5919:Gas2l3
|
UTSW |
10 |
89,252,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R6573:Gas2l3
|
UTSW |
10 |
89,258,072 (GRCm39) |
splice site |
probably null |
|
R6763:Gas2l3
|
UTSW |
10 |
89,249,231 (GRCm39) |
missense |
probably benign |
0.00 |
R6961:Gas2l3
|
UTSW |
10 |
89,249,153 (GRCm39) |
missense |
probably benign |
0.00 |
R7491:Gas2l3
|
UTSW |
10 |
89,249,763 (GRCm39) |
missense |
probably benign |
0.02 |
R7707:Gas2l3
|
UTSW |
10 |
89,250,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R7806:Gas2l3
|
UTSW |
10 |
89,249,232 (GRCm39) |
missense |
probably benign |
0.00 |
R8167:Gas2l3
|
UTSW |
10 |
89,262,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R8781:Gas2l3
|
UTSW |
10 |
89,266,841 (GRCm39) |
missense |
probably damaging |
0.99 |
R8862:Gas2l3
|
UTSW |
10 |
89,250,282 (GRCm39) |
missense |
probably damaging |
0.97 |
R9063:Gas2l3
|
UTSW |
10 |
89,249,558 (GRCm39) |
missense |
probably benign |
|
R9119:Gas2l3
|
UTSW |
10 |
89,249,319 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9258:Gas2l3
|
UTSW |
10 |
89,262,315 (GRCm39) |
missense |
probably benign |
0.18 |
R9574:Gas2l3
|
UTSW |
10 |
89,258,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R9634:Gas2l3
|
UTSW |
10 |
89,249,943 (GRCm39) |
missense |
probably benign |
0.00 |
R9640:Gas2l3
|
UTSW |
10 |
89,266,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R9702:Gas2l3
|
UTSW |
10 |
89,249,943 (GRCm39) |
missense |
probably benign |
0.00 |
R9703:Gas2l3
|
UTSW |
10 |
89,249,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTGACTCTGACATTCACTG -3'
(R):5'- TGACATCAACCACTGTATTCAATGC -3'
Sequencing Primer
(F):5'- ACTGAGTATCCCTGGCATCTGG -3'
(R):5'- ACAATTTTGCTTATTCTGGATGGTC -3'
|
Posted On |
2015-10-08 |