Incidental Mutation 'R3548:Frs3'
| ID |
348323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frs3
|
| Ensembl Gene |
ENSMUSG00000023266 |
| Gene Name |
fibroblast growth factor receptor substrate 3 |
| Synonyms |
4930417B13Rik, Frs2beta, SNT2 |
| MMRRC Submission |
040667-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.575)
|
| Stock # |
R3548 (G1)
|
| Quality Score |
33 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
47999955-48015211 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 48014561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 418
(I418S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113296]
[ENSMUST00000156118]
|
| AlphaFold |
Q91WJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113296
AA Change: I418S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108921
Gene: ENSMUSG00000023266
AA Change: I418S
| Domain | Start | End | E-Value | Type |
|---|
|
IRS
|
17 |
110 |
4.31e-33 |
SMART |
|
PTBI
|
18 |
110 |
1.23e-48 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136531
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138316
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139405
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156118
|
| Meta Mutation Damage Score |
0.6558 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.8%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a substrate for the fibroblast growth factor receptor. The encoded protein is found in the peripheral plasma membrane and links fibroblast growth factor receptor stimulation to activators of Ras. The encoded protein down-regulates extracellular regulated kinase 2 through direct binding. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
C |
A |
13: 19,287,129 (GRCm39) |
H279Q |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,437,217 (GRCm39) |
L646S |
probably benign |
Het |
| Bmal1 |
A |
T |
7: 112,912,752 (GRCm39) |
I610F |
probably damaging |
Het |
| Celf3 |
T |
G |
3: 94,395,845 (GRCm39) |
C304G |
probably damaging |
Het |
| Chrnb2 |
T |
A |
3: 89,668,898 (GRCm39) |
Y139F |
probably benign |
Het |
| Clcc1 |
T |
A |
3: 108,575,429 (GRCm39) |
C169S |
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,769,141 (GRCm39) |
L532P |
probably damaging |
Het |
| Cr2 |
A |
T |
1: 194,838,196 (GRCm39) |
C1089* |
probably null |
Het |
| Dnah10 |
A |
T |
5: 124,824,694 (GRCm39) |
I617F |
possibly damaging |
Het |
| F12 |
T |
C |
13: 55,565,950 (GRCm39) |
N132D |
probably benign |
Het |
| Fhit |
T |
C |
14: 9,870,095 (GRCm38) |
T125A |
probably benign |
Het |
| Gpr149 |
A |
T |
3: 62,502,549 (GRCm39) |
C436S |
probably benign |
Het |
| Igsf10 |
C |
A |
3: 59,243,935 (GRCm39) |
R133L |
probably damaging |
Het |
| Il17rb |
A |
G |
14: 29,730,729 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Khdc4 |
A |
G |
3: 88,600,443 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
C |
A |
5: 148,232,316 (GRCm39) |
H120Q |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Ncf1 |
T |
A |
5: 134,255,463 (GRCm39) |
K143* |
probably null |
Het |
| Nes |
C |
A |
3: 87,880,429 (GRCm39) |
|
probably benign |
Het |
| Nid2 |
T |
A |
14: 19,813,779 (GRCm39) |
Y195N |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,070,876 (GRCm39) |
C790S |
probably damaging |
Het |
| Or5b12 |
A |
T |
19: 12,897,031 (GRCm39) |
I214N |
probably benign |
Het |
| Phf24 |
T |
G |
4: 42,937,879 (GRCm39) |
Y85* |
probably null |
Het |
| Pycr1 |
T |
C |
11: 120,533,072 (GRCm39) |
S33G |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sirt2 |
A |
G |
7: 28,467,096 (GRCm39) |
E19G |
probably damaging |
Het |
| Sort1 |
T |
C |
3: 108,245,225 (GRCm39) |
V359A |
possibly damaging |
Het |
| Tnni1 |
A |
G |
1: 135,732,791 (GRCm39) |
|
probably null |
Het |
| Ube2q1 |
T |
A |
3: 89,688,383 (GRCm39) |
M183K |
probably damaging |
Het |
| Vmn1r50 |
T |
A |
6: 90,084,476 (GRCm39) |
F74I |
probably damaging |
Het |
|
| Other mutations in Frs3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0310:Frs3
|
UTSW |
17 |
48,014,747 (GRCm39) |
missense |
probably benign |
|
|
R0575:Frs3
|
UTSW |
17 |
48,014,648 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0638:Frs3
|
UTSW |
17 |
48,012,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1519:Frs3
|
UTSW |
17 |
48,013,903 (GRCm39) |
missense |
probably benign |
|
|
R1668:Frs3
|
UTSW |
17 |
48,014,147 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2151:Frs3
|
UTSW |
17 |
48,013,987 (GRCm39) |
missense |
probably benign |
|
|
R2517:Frs3
|
UTSW |
17 |
48,013,997 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3789:Frs3
|
UTSW |
17 |
48,010,621 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3890:Frs3
|
UTSW |
17 |
48,014,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4981:Frs3
|
UTSW |
17 |
48,000,187 (GRCm39) |
splice site |
probably null |
|
|
R4996:Frs3
|
UTSW |
17 |
48,012,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5479:Frs3
|
UTSW |
17 |
48,012,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5944:Frs3
|
UTSW |
17 |
48,003,233 (GRCm39) |
intron |
probably benign |
|
|
R5990:Frs3
|
UTSW |
17 |
48,012,602 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6102:Frs3
|
UTSW |
17 |
48,013,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Frs3
|
UTSW |
17 |
48,000,013 (GRCm39) |
start gained |
probably benign |
|
|
R7219:Frs3
|
UTSW |
17 |
48,013,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7359:Frs3
|
UTSW |
17 |
48,010,450 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7404:Frs3
|
UTSW |
17 |
48,013,651 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7962:Frs3
|
UTSW |
17 |
48,010,463 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8021:Frs3
|
UTSW |
17 |
48,014,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8337:Frs3
|
UTSW |
17 |
48,014,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8407:Frs3
|
UTSW |
17 |
48,009,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8976:Frs3
|
UTSW |
17 |
48,009,546 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTACCCCGTCCTCAAATGG -3'
(R):5'- TTGTGCCGAGTCTTCCTGAC -3'
Sequencing Primer
(F):5'- AAATGGCTTCCCTGATGGC -3'
(R):5'- TGACCGCGCCATCATCTCG -3'
|
| Posted On |
2015-10-06 |
Incidental Mutation