Incidental Mutation 'R0677:Flrt1'
| ID |
61693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flrt1
|
| Ensembl Gene |
ENSMUSG00000047787 |
| Gene Name |
fibronectin leucine rich transmembrane protein 1 |
| Synonyms |
D630040I23Rik |
| MMRRC Submission |
038862-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R0677 (G1)
|
| Quality Score |
136 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
7069366-7083094 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 7073544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 334
(C334*)
|
| 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 null
Transcript: ENSMUST00000113383
AA Change: C334*
|
| SMART Domains |
Protein: ENSMUSP00000109010
Gene: ENSMUSG00000047787
AA Change: C334*
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
G |
A |
6: 132,603,520 (GRCm39) |
Q79* |
probably null |
Het |
| Apol8 |
A |
C |
15: 77,634,051 (GRCm39) |
I175S |
probably damaging |
Het |
| BC004004 |
T |
C |
17: 29,517,638 (GRCm39) |
F284S |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Dchs1 |
G |
A |
7: 105,414,191 (GRCm39) |
R875C |
probably damaging |
Het |
| Depdc5 |
A |
C |
5: 33,058,814 (GRCm39) |
N261T |
probably damaging |
Het |
| Galnt5 |
T |
A |
2: 57,888,992 (GRCm39) |
Y197* |
probably null |
Het |
| Gp5 |
A |
G |
16: 30,127,193 (GRCm39) |
S494P |
probably benign |
Het |
| Ifnlr1 |
T |
A |
4: 135,432,945 (GRCm39) |
D460E |
possibly damaging |
Het |
| Mrgpra4 |
C |
T |
7: 47,630,728 (GRCm39) |
S291N |
probably benign |
Het |
| Msh4 |
G |
A |
3: 153,585,004 (GRCm39) |
P367S |
possibly damaging |
Het |
| Myct1 |
G |
T |
10: 5,554,261 (GRCm39) |
V43F |
probably benign |
Het |
| Ndst2 |
G |
A |
14: 20,779,647 (GRCm39) |
R198W |
probably benign |
Het |
| Ogdhl |
A |
T |
14: 32,061,882 (GRCm39) |
H500L |
probably damaging |
Het |
| Or52s1 |
C |
T |
7: 102,862,005 (GRCm39) |
R302* |
probably null |
Het |
| Or6c2b |
T |
A |
10: 128,947,947 (GRCm39) |
M116L |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,594,454 (GRCm39) |
G1220S |
probably benign |
Het |
| Slc26a4 |
A |
G |
12: 31,599,910 (GRCm39) |
|
probably null |
Het |
| Spata31g1 |
T |
A |
4: 42,970,952 (GRCm39) |
L59* |
probably null |
Het |
| Sytl1 |
A |
T |
4: 132,980,536 (GRCm39) |
C551S |
possibly damaging |
Het |
| Uri1 |
T |
C |
7: 37,664,925 (GRCm39) |
N256D |
probably benign |
Het |
| Vmn2r114 |
T |
G |
17: 23,529,568 (GRCm39) |
D178A |
probably damaging |
Het |
| Vmn2r23 |
C |
T |
6: 123,690,410 (GRCm39) |
L429F |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,221,577 (GRCm39) |
L685P |
probably damaging |
Het |
| Wipi2 |
A |
T |
5: 142,643,989 (GRCm39) |
I124F |
probably damaging |
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 |
|
|
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 |
|
R8168:Flrt1
|
UTSW |
19 |
7,074,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGGCTTCACCTGGATGACCAATG -3'
(R):5'- TGCAGGACAATGCCATCAGTCAC -3'
Sequencing Primer
(F):5'- ACCTGGATGACCAATGTCTTG -3'
(R):5'- ATGCCATCAGTCACATTCCC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation