Incidental Mutation 'R0578:Gas2l3'
| ID |
56319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gas2l3
|
| Ensembl Gene |
ENSMUSG00000074802 |
| Gene Name |
growth arrest-specific 2 like 3 |
| Synonyms |
LOC237436, 8430435B07Rik |
| MMRRC Submission |
038768-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
R0578 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
89244685-89279829 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89252937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 236
(I236T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099374]
[ENSMUST00000105298]
[ENSMUST00000220128]
[ENSMUST00000220234]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099374
AA Change: I236T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096973
Gene: ENSMUSG00000074802
AA Change: I236T
| 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 damaging
Transcript: ENSMUST00000105298
AA Change: I236T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100935
Gene: ENSMUSG00000074802
AA Change: I236T
| 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 damaging
Transcript: ENSMUST00000220128
AA Change: I236T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220234
|
| Meta Mutation Damage Score |
0.4480 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
100% (53/53) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,943,556 (GRCm39) |
Y56C |
possibly damaging |
Het |
| Abca5 |
A |
T |
11: 110,167,315 (GRCm39) |
C1500* |
probably null |
Het |
| Acr |
C |
G |
15: 89,453,678 (GRCm39) |
H72Q |
probably damaging |
Het |
| Adam18 |
T |
C |
8: 25,131,863 (GRCm39) |
D416G |
possibly damaging |
Het |
| Afap1l2 |
T |
A |
19: 56,904,214 (GRCm39) |
Y691F |
probably benign |
Het |
| Akna |
A |
G |
4: 63,289,147 (GRCm39) |
S1259P |
probably benign |
Het |
| Atad2 |
G |
A |
15: 57,968,964 (GRCm39) |
T525I |
probably damaging |
Het |
| Atp2a1 |
T |
G |
7: 126,049,315 (GRCm39) |
M576L |
probably benign |
Het |
| B4galt6 |
T |
C |
18: 20,861,013 (GRCm39) |
|
probably benign |
Het |
| Best3 |
A |
G |
10: 116,844,904 (GRCm39) |
D353G |
probably benign |
Het |
| Btg3 |
A |
T |
16: 78,161,834 (GRCm39) |
D125E |
probably benign |
Het |
| Cabin1 |
A |
T |
10: 75,549,444 (GRCm39) |
D1320E |
probably damaging |
Het |
| Cachd1 |
A |
C |
4: 100,852,039 (GRCm39) |
|
probably benign |
Het |
| Cad |
T |
C |
5: 31,216,120 (GRCm39) |
V151A |
probably benign |
Het |
| Capns1 |
A |
T |
7: 29,893,453 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
A |
7: 29,404,116 (GRCm39) |
T860S |
possibly damaging |
Het |
| Ccdc61 |
T |
C |
7: 18,637,400 (GRCm39) |
T76A |
probably benign |
Het |
| Cdipt |
T |
A |
7: 126,578,702 (GRCm39) |
|
probably null |
Het |
| Cyp2d12 |
G |
A |
15: 82,440,584 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
C |
A |
4: 86,730,659 (GRCm39) |
P852Q |
probably damaging |
Het |
| Dsg2 |
G |
A |
18: 20,727,291 (GRCm39) |
V613I |
probably benign |
Het |
| Dusp16 |
G |
C |
6: 134,695,284 (GRCm39) |
L516V |
probably damaging |
Het |
| Eif2ak4 |
T |
G |
2: 118,305,472 (GRCm39) |
|
probably benign |
Het |
| Faf2 |
C |
T |
13: 54,769,658 (GRCm39) |
A2V |
possibly damaging |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Got1 |
G |
T |
19: 43,504,222 (GRCm39) |
S66R |
probably benign |
Het |
| Gpr149 |
T |
A |
3: 62,510,110 (GRCm39) |
H335L |
possibly damaging |
Het |
| Hadhb |
A |
G |
5: 30,383,804 (GRCm39) |
I342M |
probably benign |
Het |
| Helz |
T |
A |
11: 107,577,226 (GRCm39) |
V1859D |
unknown |
Het |
| Htr1a |
T |
A |
13: 105,581,595 (GRCm39) |
N278K |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,480,795 (GRCm39) |
E355G |
probably damaging |
Het |
| Isl2 |
A |
G |
9: 55,452,319 (GRCm39) |
Y297C |
probably damaging |
Het |
| Kat7 |
T |
C |
11: 95,182,350 (GRCm39) |
H250R |
probably benign |
Het |
| Klhl30 |
A |
T |
1: 91,282,074 (GRCm39) |
D225V |
probably benign |
Het |
| Mtch2 |
T |
C |
2: 90,683,174 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,755,690 (GRCm38) |
|
probably benign |
Het |
| Ncoa7 |
A |
C |
10: 30,577,913 (GRCm39) |
|
probably null |
Het |
| Nuf2 |
T |
A |
1: 169,338,118 (GRCm39) |
|
probably benign |
Het |
| Or5ak24 |
T |
C |
2: 85,261,017 (GRCm39) |
D52G |
probably benign |
Het |
| Or6c8 |
A |
G |
10: 128,915,062 (GRCm39) |
Y257H |
probably damaging |
Het |
| Pced1a |
T |
A |
2: 130,261,763 (GRCm39) |
S297C |
probably damaging |
Het |
| Pi15 |
A |
T |
1: 17,673,073 (GRCm39) |
K91* |
probably null |
Het |
| Pla2g4e |
C |
T |
2: 120,075,162 (GRCm39) |
|
probably benign |
Het |
| Plce1 |
A |
T |
19: 38,766,383 (GRCm39) |
H2136L |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,061,084 (GRCm39) |
L2973P |
probably damaging |
Het |
| Poln |
A |
G |
5: 34,171,682 (GRCm39) |
I695T |
probably damaging |
Het |
| Pramel32 |
T |
A |
4: 88,552,376 (GRCm39) |
I2F |
probably benign |
Het |
| R3hdm1 |
C |
T |
1: 128,159,174 (GRCm39) |
Q950* |
probably null |
Het |
| Rxra |
C |
T |
2: 27,649,582 (GRCm39) |
A429V |
probably damaging |
Het |
| Scnn1a |
G |
A |
6: 125,299,207 (GRCm39) |
G96S |
probably damaging |
Het |
| Senp5 |
T |
A |
16: 31,808,163 (GRCm39) |
T337S |
possibly damaging |
Het |
| Smg9 |
A |
G |
7: 24,114,468 (GRCm39) |
D269G |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,717,704 (GRCm39) |
|
probably benign |
Het |
| Tmtc1 |
C |
T |
6: 148,256,716 (GRCm39) |
|
probably benign |
Het |
| Vmn2r19 |
T |
C |
6: 123,312,931 (GRCm39) |
V667A |
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 |
|
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 |
|
|
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'- AATTCTTCCATGAATAGCCAGCCCC -3'
(R):5'- TCATGCTGCCTAAAGACCAGCAGG -3'
Sequencing Primer
(F):5'- AATAGCCAGCCCCTGTATTC -3'
(R):5'- GACCAGCAGGGCTGGAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation