Incidental Mutation 'R8168:Flrt1'
| ID |
633927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flrt1
|
| Ensembl Gene |
ENSMUSG00000047787 |
| Gene Name |
fibronectin leucine rich transmembrane protein 1 |
| Synonyms |
D630040I23Rik |
| MMRRC Submission |
067594-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R8168 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
7069366-7083094 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 7074002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 182
(L182F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040261]
[ENSMUST00000113383]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040261
|
| SMART Domains |
Protein: ENSMUSP00000039507
Gene: ENSMUSG00000036278
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
74 |
N/A |
INTRINSIC |
|
A1pp
|
151 |
281 |
7.67e-46 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113383
AA Change: L182F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109010
Gene: ENSMUSG00000047787
AA Change: L182F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
LRRNT
|
53 |
85 |
4.11e-6 |
SMART |
|
LRR
|
127 |
149 |
2.61e1 |
SMART |
|
LRR
|
150 |
175 |
4.71e1 |
SMART |
|
LRR
|
177 |
199 |
1.76e1 |
SMART |
|
LRR
|
200 |
220 |
7.36e0 |
SMART |
|
LRR
|
221 |
246 |
1.49e1 |
SMART |
|
LRR
|
247 |
270 |
9.77e1 |
SMART |
|
LRR
|
271 |
292 |
1.53e1 |
SMART |
|
LRR_TYP
|
293 |
316 |
3.55e-6 |
SMART |
|
LRRCT
|
328 |
379 |
5.19e-9 |
SMART |
|
low complexity region
|
381 |
392 |
N/A |
INTRINSIC |
|
FN3
|
434 |
515 |
1.49e0 |
SMART |
|
transmembrane domain
|
556 |
578 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. The family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. The encoded protein shares sequence similarity with two other family members, FLRT2 and FLRT3. This gene is expressed in kidney and brain. [provided by RefSeq, Jul 2008]
PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
A |
G |
10: 88,816,857 (GRCm39) |
I652T |
probably damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,624,831 (GRCm39) |
T862A |
probably benign |
Het |
| Atp6v1b2 |
T |
C |
8: 69,560,983 (GRCm39) |
S404P |
possibly damaging |
Het |
| Catsperz |
A |
G |
19: 6,900,020 (GRCm39) |
S162P |
possibly damaging |
Het |
| Cfap410 |
G |
A |
10: 77,818,778 (GRCm39) |
A150T |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,744,739 (GRCm39) |
S2170T |
unknown |
Het |
| Copa |
A |
T |
1: 171,927,239 (GRCm39) |
H204L |
probably damaging |
Het |
| Cwc22 |
A |
C |
2: 77,757,615 (GRCm39) |
V171G |
probably damaging |
Het |
| Dock5 |
A |
T |
14: 68,007,646 (GRCm39) |
|
probably null |
Het |
| Foxf1 |
T |
C |
8: 121,811,901 (GRCm39) |
V255A |
probably damaging |
Het |
| Gnptab |
G |
T |
10: 88,254,995 (GRCm39) |
A194S |
probably benign |
Het |
| Gzf1 |
C |
T |
2: 148,526,686 (GRCm39) |
R386C |
probably damaging |
Het |
| H2-Aa |
T |
A |
17: 34,506,695 (GRCm39) |
T16S |
possibly damaging |
Het |
| Hdgfl2 |
T |
C |
17: 56,389,282 (GRCm39) |
F52S |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,040,300 (GRCm39) |
N2154S |
probably benign |
Het |
| Ifi207 |
A |
C |
1: 173,557,504 (GRCm39) |
S411R |
probably benign |
Het |
| Jcad |
A |
T |
18: 4,675,094 (GRCm39) |
D952V |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,639,999 (GRCm39) |
W65R |
probably null |
Het |
| Mef2c |
G |
T |
13: 83,804,469 (GRCm39) |
L356F |
probably damaging |
Het |
| Mrgprb2 |
A |
T |
7: 48,201,767 (GRCm39) |
S319R |
probably benign |
Het |
| Mtrr |
C |
T |
13: 68,720,732 (GRCm39) |
V288I |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,711,968 (GRCm39) |
I713N |
probably damaging |
Het |
| Nelfa |
A |
T |
5: 34,079,251 (GRCm39) |
N107K |
possibly damaging |
Het |
| Nim1k |
A |
T |
13: 120,174,288 (GRCm39) |
V202D |
probably damaging |
Het |
| Nlrc4 |
T |
C |
17: 74,752,206 (GRCm39) |
T726A |
probably benign |
Het |
| Or4p8 |
T |
A |
2: 88,727,120 (GRCm39) |
M274L |
probably benign |
Het |
| Or9m1 |
T |
A |
2: 87,733,543 (GRCm39) |
H159L |
probably damaging |
Het |
| Phaf1 |
C |
T |
8: 105,975,401 (GRCm39) |
P330L |
probably benign |
Het |
| Prdm10 |
G |
A |
9: 31,258,263 (GRCm39) |
A514T |
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,331,601 (GRCm39) |
E357D |
unknown |
Het |
| Ptp4a3 |
T |
G |
15: 73,628,695 (GRCm39) |
Y152D |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,538,779 (GRCm39) |
C389R |
unknown |
Het |
| Rcc1 |
T |
C |
4: 132,063,096 (GRCm39) |
E170G |
probably benign |
Het |
| Spag17 |
C |
T |
3: 99,942,300 (GRCm39) |
T775M |
possibly damaging |
Het |
| Srcap |
T |
A |
7: 127,141,695 (GRCm39) |
V1825D |
probably damaging |
Het |
| Tshr |
T |
A |
12: 91,478,739 (GRCm39) |
H195Q |
probably benign |
Het |
| Vmn1r174 |
A |
T |
7: 23,454,096 (GRCm39) |
D254V |
probably damaging |
Het |
| Vps13a |
A |
C |
19: 16,726,912 (GRCm39) |
I244M |
probably benign |
Het |
|
| Other mutations in Flrt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Flrt1
|
APN |
19 |
7,074,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01082:Flrt1
|
APN |
19 |
7,073,339 (GRCm39) |
missense |
probably benign |
|
|
IGL02535:Flrt1
|
APN |
19 |
7,074,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0240:Flrt1
|
UTSW |
19 |
7,074,475 (GRCm39) |
intron |
probably benign |
|
|
R0240:Flrt1
|
UTSW |
19 |
7,074,475 (GRCm39) |
intron |
probably benign |
|
|
R0403:Flrt1
|
UTSW |
19 |
7,073,284 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0645:Flrt1
|
UTSW |
19 |
7,074,508 (GRCm39) |
intron |
probably benign |
|
|
R0677:Flrt1
|
UTSW |
19 |
7,073,544 (GRCm39) |
nonsense |
probably null |
|
|
R1818:Flrt1
|
UTSW |
19 |
7,072,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Flrt1
|
UTSW |
19 |
7,073,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2228:Flrt1
|
UTSW |
19 |
7,072,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2471:Flrt1
|
UTSW |
19 |
7,073,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4978:Flrt1
|
UTSW |
19 |
7,074,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5460:Flrt1
|
UTSW |
19 |
7,073,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5630:Flrt1
|
UTSW |
19 |
7,073,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Flrt1
|
UTSW |
19 |
7,073,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6734:Flrt1
|
UTSW |
19 |
7,073,524 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6905:Flrt1
|
UTSW |
19 |
7,072,757 (GRCm39) |
nonsense |
probably null |
|
|
R7239:Flrt1
|
UTSW |
19 |
7,073,329 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7799:Flrt1
|
UTSW |
19 |
7,073,229 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
X0024:Flrt1
|
UTSW |
19 |
7,073,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Flrt1
|
UTSW |
19 |
7,074,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGGTGTCGTCGGCAATG -3'
(R):5'- TCATCTACCTGTATGAGAATGACCTG -3'
Sequencing Primer
(F):5'- CGGCAATGCGCTGGTTG -3'
(R):5'- GAATGACCTGGACGAGTTCCCTATC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation