Incidental Mutation 'R9703:Gas2l3'
| ID |
729671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gas2l3
|
| Ensembl Gene |
ENSMUSG00000074802 |
| Gene Name |
growth arrest-specific 2 like 3 |
| Synonyms |
LOC237436, 8430435B07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
R9703 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
89244685-89279829 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89249943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 392
(A392T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096973
(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: A392T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000096973
Gene: ENSMUSG00000074802
AA Change: A392T
| 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: A392T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000100935
Gene: ENSMUSG00000074802
AA Change: A392T
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 98.2%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
T |
A |
8: 41,248,971 (GRCm39) |
N360K |
probably damaging |
Het |
| Aoc1l2 |
A |
G |
6: 48,909,629 (GRCm39) |
T625A |
probably benign |
Het |
| Apob |
T |
A |
12: 8,030,507 (GRCm39) |
L82Q |
probably damaging |
Het |
| Arhgap30 |
T |
G |
1: 171,235,339 (GRCm39) |
L571R |
probably damaging |
Het |
| Atg9a |
C |
T |
1: 75,162,431 (GRCm39) |
C493Y |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 85,952,830 (GRCm39) |
T984A |
possibly damaging |
Het |
| Btbd9 |
A |
G |
17: 30,749,200 (GRCm39) |
V38A |
possibly damaging |
Het |
| Crocc2 |
C |
A |
1: 93,130,444 (GRCm39) |
D908E |
probably benign |
Het |
| Crybg3 |
C |
G |
16: 59,375,939 (GRCm39) |
A58P |
probably damaging |
Het |
| Cts7 |
T |
C |
13: 61,504,350 (GRCm39) |
N71S |
probably damaging |
Het |
| Ddx46 |
A |
G |
13: 55,824,635 (GRCm39) |
Y962C |
probably damaging |
Het |
| Dock10 |
G |
A |
1: 80,517,540 (GRCm39) |
R1373C |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,781,989 (GRCm39) |
*2043R |
probably null |
Het |
| Efs |
A |
T |
14: 55,156,871 (GRCm39) |
V388E |
possibly damaging |
Het |
| Esyt1 |
C |
T |
10: 128,354,796 (GRCm39) |
|
probably null |
Het |
| Extl3 |
G |
T |
14: 65,292,103 (GRCm39) |
R907S |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,806,400 (GRCm39) |
V2123M |
probably damaging |
Het |
| Golm1 |
A |
T |
13: 59,797,433 (GRCm39) |
D137E |
probably benign |
Het |
| Grxcr2 |
T |
C |
18: 42,124,988 (GRCm39) |
D140G |
possibly damaging |
Het |
| H2ac19 |
G |
A |
3: 96,147,557 (GRCm39) |
R4C |
probably benign |
Het |
| Hrh1 |
G |
A |
6: 114,457,979 (GRCm39) |
C420Y |
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,459,063 (GRCm39) |
L316Q |
probably damaging |
Het |
| Iws1 |
T |
A |
18: 32,212,738 (GRCm39) |
D55E |
probably damaging |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
| Klrc2 |
G |
C |
6: 129,633,407 (GRCm39) |
S215* |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,425,535 (GRCm39) |
T4727A |
possibly damaging |
Het |
| Nsd3 |
T |
C |
8: 26,131,228 (GRCm39) |
S198P |
probably benign |
Het |
| Or2n1b |
A |
T |
17: 38,459,856 (GRCm39) |
I126F |
possibly damaging |
Het |
| Or6c214 |
A |
T |
10: 129,591,286 (GRCm39) |
I11N |
possibly damaging |
Het |
| Ovch2 |
T |
A |
7: 107,383,777 (GRCm39) |
I523F |
probably damaging |
Het |
| Pals1 |
T |
A |
12: 78,843,850 (GRCm39) |
I18K |
probably benign |
Het |
| Pcdhb1 |
T |
A |
18: 37,399,019 (GRCm39) |
D323E |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,826,142 (GRCm39) |
|
probably null |
Het |
| Pigc |
T |
A |
1: 161,798,176 (GRCm39) |
F53I |
probably benign |
Het |
| Pramel29 |
T |
A |
4: 143,939,510 (GRCm39) |
D9V |
probably damaging |
Het |
| Prph2 |
G |
A |
17: 47,234,447 (GRCm39) |
A339T |
unknown |
Het |
| Prrc2a |
T |
C |
17: 35,378,320 (GRCm39) |
K452E |
unknown |
Het |
| Rab36 |
T |
C |
10: 74,886,474 (GRCm39) |
W151R |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,100,283 (GRCm39) |
T1438A |
possibly damaging |
Het |
| Slc25a17 |
A |
T |
15: 81,224,193 (GRCm39) |
I55K |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,739,744 (GRCm39) |
I3401N |
possibly damaging |
Het |
| Smpd3 |
T |
A |
8: 106,991,713 (GRCm39) |
H280L |
probably damaging |
Het |
| Srsf10 |
A |
G |
4: 135,591,153 (GRCm39) |
H202R |
probably benign |
Het |
| Swap70 |
C |
T |
7: 109,872,512 (GRCm39) |
R376C |
probably damaging |
Het |
| Syde1 |
G |
T |
10: 78,421,557 (GRCm39) |
L665M |
probably damaging |
Het |
| Tha1 |
A |
G |
11: 117,761,863 (GRCm39) |
V126A |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,293,938 (GRCm39) |
H230R |
probably damaging |
Het |
| Tnc |
G |
A |
4: 63,889,412 (GRCm39) |
A1698V |
probably benign |
Het |
| Twist2 |
C |
A |
1: 91,729,744 (GRCm39) |
S132R |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,732,092 (GRCm39) |
C1170Y |
probably damaging |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGATCTCTTGAATTCTGGGCTG -3'
(R):5'- TCCAGAAATGAACCCTTTGTCAG -3'
Sequencing Primer
(F):5'- ATCTCTTGAATTCTGGGCTGGAATAG -3'
(R):5'- GAACCCTTTGTCAGCAGTTAATATG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation