Incidental Mutation 'R4641:Gas2l3'
ID |
351648 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gas2l3
|
Ensembl Gene |
ENSMUSG00000074802 |
Gene Name |
growth arrest-specific 2 like 3 |
Synonyms |
LOC237436, 8430435B07Rik |
MMRRC Submission |
041903-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.195)
|
Stock # |
R4641 (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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
G |
A |
10: 79,841,615 (GRCm39) |
|
probably null |
Het |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Dsg3 |
T |
A |
18: 20,653,615 (GRCm39) |
F54I |
probably benign |
Het |
Ehbp1 |
G |
A |
11: 22,045,892 (GRCm39) |
S619L |
probably benign |
Het |
Eif1ad3 |
A |
G |
12: 87,843,446 (GRCm39) |
Y31C |
probably damaging |
Het |
Eif1ad5 |
A |
G |
12: 87,946,852 (GRCm39) |
D98G |
probably benign |
Het |
Erlec1 |
G |
A |
11: 30,898,442 (GRCm39) |
Q10* |
probably null |
Het |
Fbxw14 |
A |
G |
9: 109,107,750 (GRCm39) |
|
probably null |
Het |
Fhod1 |
C |
T |
8: 106,056,224 (GRCm39) |
R1163H |
probably damaging |
Het |
Gm4846 |
G |
A |
1: 166,311,462 (GRCm39) |
P466S |
probably damaging |
Het |
Ift122 |
A |
T |
6: 115,865,726 (GRCm39) |
K339* |
probably null |
Het |
Il6st |
T |
C |
13: 112,625,064 (GRCm39) |
S227P |
probably damaging |
Het |
Letmd1 |
A |
G |
15: 100,375,708 (GRCm39) |
Y198C |
probably damaging |
Het |
Map3k4 |
A |
T |
17: 12,482,932 (GRCm39) |
L595Q |
probably damaging |
Het |
Mdc1 |
C |
G |
17: 36,168,361 (GRCm39) |
R1656G |
probably benign |
Het |
Megf11 |
C |
T |
9: 64,597,407 (GRCm39) |
S662L |
possibly damaging |
Het |
Mrps25 |
T |
C |
6: 92,160,881 (GRCm39) |
E25G |
probably benign |
Het |
Myh2 |
G |
T |
11: 67,085,520 (GRCm39) |
G1815C |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,393,867 (GRCm39) |
D2353G |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
P2rx5 |
A |
T |
11: 73,058,390 (GRCm39) |
H275L |
possibly damaging |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
Rnf123 |
T |
C |
9: 107,935,786 (GRCm39) |
D920G |
probably damaging |
Het |
Slc44a2 |
A |
G |
9: 21,258,178 (GRCm39) |
Y474C |
probably damaging |
Het |
Slc9a4 |
T |
A |
1: 40,646,285 (GRCm39) |
F439I |
probably damaging |
Het |
Snap91 |
A |
G |
9: 86,761,528 (GRCm39) |
V26A |
probably damaging |
Het |
Spata31d1c |
C |
A |
13: 65,182,862 (GRCm39) |
Q135K |
probably benign |
Het |
Stard8 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
X: 98,110,114 (GRCm39) |
|
probably benign |
Het |
Tlk2 |
T |
C |
11: 105,166,809 (GRCm39) |
I669T |
probably benign |
Het |
Tmem273 |
A |
G |
14: 32,528,839 (GRCm39) |
D68G |
probably damaging |
Het |
Ttc38 |
T |
C |
15: 85,728,659 (GRCm39) |
S204P |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,617,155 (GRCm39) |
Y16403F |
probably damaging |
Het |
Ttyh2 |
G |
T |
11: 114,592,609 (GRCm39) |
W213L |
probably damaging |
Het |
Ugt2a2 |
A |
T |
5: 87,610,755 (GRCm39) |
D360E |
probably damaging |
Het |
Vwa5b2 |
A |
T |
16: 20,423,393 (GRCm39) |
H1102L |
probably damaging |
Het |
Zbtb41 |
A |
T |
1: 139,370,557 (GRCm39) |
T665S |
probably damaging |
Het |
Zfp292 |
T |
C |
4: 34,807,828 (GRCm39) |
I1739V |
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 |
|
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'- GGCCTGACTCTGACATTCACTG -3'
(R):5'- GACATCAACCACTGTATTCAATGC -3'
Sequencing Primer
(F):5'- ACTGAGTATCCCTGGCATCTGG -3'
(R):5'- ACAATTTTGCTTATTCTGGATGGTC -3'
|
Posted On |
2015-10-08 |