Incidental Mutation 'IGL00807:Frs2'
| ID |
10828 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Frs2
|
| Ensembl Gene |
ENSMUSG00000020170 |
| Gene Name |
fibroblast growth factor receptor substrate 2 |
| Synonyms |
Frs2alpha, SNT1, C330018A15Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00807
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
116905332-116984439 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 116910791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020381]
|
| AlphaFold |
Q8C180 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020381
|
| SMART Domains |
Protein: ENSMUSP00000020381
Gene: ENSMUSG00000020170
| Domain | Start | End | E-Value | Type |
|---|
|
IRS
|
17 |
110 |
2.04e-34 |
SMART |
|
PTBI
|
18 |
110 |
5.71e-35 |
SMART |
|
low complexity region
|
130 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
468 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice exhibit embryonic lethality between E5.75 and E8 and defects in primitive streak formation and anterior-posterior axis formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,328,285 (GRCm39) |
T3453S |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,985,886 (GRCm39) |
V2390E |
possibly damaging |
Het |
| Aldh8a1 |
A |
T |
10: 21,271,329 (GRCm39) |
I352F |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,725,628 (GRCm39) |
|
probably benign |
Het |
| Ccr1l1 |
A |
T |
9: 123,777,506 (GRCm39) |
W314R |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,969,018 (GRCm39) |
I1218V |
possibly damaging |
Het |
| Dlc1 |
G |
A |
8: 37,040,002 (GRCm39) |
T1386I |
probably benign |
Het |
| Gria1 |
T |
C |
11: 56,902,866 (GRCm39) |
Y3H |
probably benign |
Het |
| Iigp1c |
C |
T |
18: 60,378,483 (GRCm39) |
S6F |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,123,961 (GRCm39) |
N609S |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,825,008 (GRCm39) |
M1541K |
possibly damaging |
Het |
| Mmachc |
A |
T |
4: 116,563,118 (GRCm39) |
V79E |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,509,757 (GRCm39) |
D21G |
probably damaging |
Het |
| Pde2a |
G |
A |
7: 101,153,619 (GRCm39) |
V436M |
probably damaging |
Het |
| Polr1has |
G |
T |
17: 37,275,813 (GRCm39) |
A132S |
probably damaging |
Het |
| Rhot1 |
C |
T |
11: 80,116,928 (GRCm39) |
H101Y |
probably benign |
Het |
| Sh2d4a |
T |
C |
8: 68,782,018 (GRCm39) |
|
probably null |
Het |
| Taar2 |
A |
G |
10: 23,816,573 (GRCm39) |
M38V |
probably benign |
Het |
| Tek |
A |
T |
4: 94,686,956 (GRCm39) |
N158I |
probably damaging |
Het |
|
| Other mutations in Frs2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02300:Frs2
|
APN |
10 |
116,913,496 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL03028:Frs2
|
APN |
10 |
116,909,838 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0001:Frs2
|
UTSW |
10 |
116,910,781 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0513:Frs2
|
UTSW |
10 |
116,910,570 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0708:Frs2
|
UTSW |
10 |
116,909,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0735:Frs2
|
UTSW |
10 |
116,910,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1296:Frs2
|
UTSW |
10 |
116,916,979 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1934:Frs2
|
UTSW |
10 |
116,914,806 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1938:Frs2
|
UTSW |
10 |
116,917,011 (GRCm39) |
start gained |
probably benign |
|
|
R1992:Frs2
|
UTSW |
10 |
116,910,459 (GRCm39) |
missense |
probably benign |
|
|
R2095:Frs2
|
UTSW |
10 |
116,910,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3878:Frs2
|
UTSW |
10 |
116,914,815 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4732:Frs2
|
UTSW |
10 |
116,909,998 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4733:Frs2
|
UTSW |
10 |
116,909,998 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5186:Frs2
|
UTSW |
10 |
116,914,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5326:Frs2
|
UTSW |
10 |
116,913,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5894:Frs2
|
UTSW |
10 |
116,917,011 (GRCm39) |
start gained |
probably benign |
|
|
R6084:Frs2
|
UTSW |
10 |
116,912,714 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7468:Frs2
|
UTSW |
10 |
116,910,007 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7603:Frs2
|
UTSW |
10 |
116,909,968 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8179:Frs2
|
UTSW |
10 |
116,912,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8190:Frs2
|
UTSW |
10 |
116,910,784 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8721:Frs2
|
UTSW |
10 |
116,909,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9104:Frs2
|
UTSW |
10 |
116,910,070 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1177:Frs2
|
UTSW |
10 |
116,910,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation