Incidental Mutation 'R6763:Gas2l3'
| ID |
531785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gas2l3
|
| Ensembl Gene |
ENSMUSG00000074802 |
| Gene Name |
growth arrest-specific 2 like 3 |
| Synonyms |
LOC237436, 8430435B07Rik |
| MMRRC Submission |
044879-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R6763 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
89244685-89279829 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89249231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 629
(Y629C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099374]
[ENSMUST00000105298]
[ENSMUST00000220128]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099374
AA Change: Y629C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000096973
Gene: ENSMUSG00000074802
AA Change: Y629C
| 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
AA Change: Y629C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000100935
Gene: ENSMUSG00000074802
AA Change: Y629C
| 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: ENSMUST00000220128
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.2%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
C |
A |
15: 102,248,457 (GRCm39) |
R286L |
probably null |
Het |
| Actrt2 |
A |
G |
4: 154,751,836 (GRCm39) |
V100A |
probably damaging |
Het |
| Adra1b |
A |
G |
11: 43,666,833 (GRCm39) |
L468P |
possibly damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,776,022 (GRCm39) |
E1457G |
probably benign |
Het |
| Aspm |
A |
T |
1: 139,398,255 (GRCm39) |
M974L |
possibly damaging |
Het |
| Atp8a2 |
T |
A |
14: 60,245,857 (GRCm39) |
I612F |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,582,564 (GRCm39) |
L284P |
probably damaging |
Het |
| Cand2 |
T |
A |
6: 115,776,930 (GRCm39) |
M1106K |
probably benign |
Het |
| Ccbe1 |
A |
T |
18: 66,194,459 (GRCm39) |
F376I |
possibly damaging |
Het |
| Ceacam14 |
A |
G |
7: 17,549,268 (GRCm39) |
T220A |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,704,549 (GRCm39) |
D344G |
probably damaging |
Het |
| Chaf1b |
A |
G |
16: 93,688,393 (GRCm39) |
K163E |
probably damaging |
Het |
| Clec2d |
C |
A |
6: 129,161,107 (GRCm39) |
T68K |
probably benign |
Het |
| Cwc27 |
T |
C |
13: 104,947,809 (GRCm39) |
T19A |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,668,050 (GRCm39) |
Y1519F |
possibly damaging |
Het |
| E130308A19Rik |
A |
T |
4: 59,752,288 (GRCm39) |
K467M |
probably damaging |
Het |
| Garnl3 |
T |
C |
2: 32,944,208 (GRCm39) |
Y117C |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,053,868 (GRCm39) |
N470D |
unknown |
Het |
| Lmtk2 |
T |
A |
5: 144,110,615 (GRCm39) |
I445N |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,261,570 (GRCm39) |
D1508G |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,416,021 (GRCm39) |
H2989R |
probably benign |
Het |
| Niban2 |
T |
C |
2: 32,801,460 (GRCm39) |
|
probably null |
Het |
| Nln |
A |
T |
13: 104,172,163 (GRCm39) |
W638R |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,671,017 (GRCm39) |
I127V |
possibly damaging |
Het |
| Nup155 |
C |
T |
15: 8,165,379 (GRCm39) |
R672* |
probably null |
Het |
| Prkcb |
A |
G |
7: 122,193,887 (GRCm39) |
Y532C |
probably damaging |
Het |
| Ptpro |
A |
G |
6: 137,395,279 (GRCm39) |
|
probably null |
Het |
| Rab11fip5 |
A |
G |
6: 85,319,152 (GRCm39) |
L579S |
probably benign |
Het |
| Rtca |
A |
G |
3: 116,301,398 (GRCm39) |
|
probably null |
Het |
| Sdccag8 |
A |
G |
1: 176,682,193 (GRCm39) |
|
probably null |
Het |
| Svil |
G |
T |
18: 5,056,437 (GRCm39) |
D524Y |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,560,636 (GRCm39) |
N788S |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 32,764,469 (GRCm39) |
R2140S |
probably damaging |
Het |
| Zfp518a |
A |
G |
19: 40,902,192 (GRCm39) |
K707R |
probably damaging |
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 |
|
|
R4643: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 |
|
|
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'- ACCCTGATTTGCTGAAACGATAC -3'
(R):5'- GCAAAAGCTACTCAGGGATCG -3'
Sequencing Primer
(F):5'- CCTGATTTGCTGAAACGATACAAGTG -3'
(R):5'- GGTAAGAATACAGTTTCAGTTGCC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation