Incidental Mutation 'R1029:Lrfn3'
| ID |
95139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrfn3
|
| Ensembl Gene |
ENSMUSG00000036957 |
| Gene Name |
leucine rich repeat and fibronectin type III domain containing 3 |
| Synonyms |
A530045B06Rik, SALM4 |
| MMRRC Submission |
039131-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1029 (G1)
|
| Quality Score |
178 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30054939-30062197 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30055347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 533
(P533S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046351]
|
| AlphaFold |
Q8BLY3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046351
AA Change: P533S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037616
Gene: ENSMUSG00000036957
AA Change: P533S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
LRRNT
|
27 |
63 |
7.74e-2 |
SMART |
|
LRR_TYP
|
82 |
105 |
5.81e-2 |
SMART |
|
LRR_TYP
|
106 |
129 |
5.06e-2 |
SMART |
|
LRR_TYP
|
130 |
153 |
6.42e-4 |
SMART |
|
LRR
|
158 |
178 |
9.24e1 |
SMART |
|
LRR
|
179 |
202 |
2.67e-1 |
SMART |
|
LRR
|
203 |
226 |
1.12e1 |
SMART |
|
LRRCT
|
249 |
294 |
2.72e-3 |
SMART |
|
IGc2
|
308 |
373 |
2.23e-10 |
SMART |
|
FN3
|
423 |
506 |
4e-1 |
SMART |
|
transmembrane domain
|
538 |
560 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
606 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083048
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208824
|
| Meta Mutation Damage Score |
0.1928 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
92% (36/39) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased frequency of excitatory and inhibitory postsynaptic freuqency and synapse density, [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
A |
G |
11: 30,376,177 (GRCm39) |
L230S |
probably damaging |
Het |
| 4930505A04Rik |
A |
G |
11: 30,396,389 (GRCm39) |
|
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,602,032 (GRCm39) |
I1648T |
probably damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,394,817 (GRCm39) |
F236S |
probably damaging |
Het |
| Ccdc178 |
T |
C |
18: 22,230,782 (GRCm39) |
D363G |
possibly damaging |
Het |
| Cntn5 |
T |
A |
9: 9,831,577 (GRCm39) |
D601V |
probably damaging |
Het |
| Cog7 |
C |
T |
7: 121,529,752 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
A |
G |
1: 46,651,881 (GRCm39) |
K1365E |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,837,096 (GRCm39) |
|
probably null |
Het |
| Ehd3 |
T |
A |
17: 74,123,321 (GRCm39) |
I108N |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,348,773 (GRCm39) |
S535P |
probably damaging |
Het |
| Fam170a |
T |
C |
18: 50,414,741 (GRCm39) |
V129A |
probably damaging |
Het |
| Gfra3 |
T |
C |
18: 34,823,892 (GRCm39) |
T361A |
probably benign |
Het |
| Gm10295 |
A |
T |
7: 71,000,448 (GRCm39) |
I44K |
unknown |
Het |
| Gm10553 |
T |
C |
1: 85,078,170 (GRCm39) |
S96P |
probably benign |
Het |
| Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
| Hspa13 |
A |
T |
16: 75,562,125 (GRCm39) |
Y25N |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,317,372 (GRCm39) |
|
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,911,639 (GRCm39) |
D1991G |
probably benign |
Het |
| Myoz1 |
A |
G |
14: 20,700,600 (GRCm39) |
Y206H |
probably damaging |
Het |
| Or2at1 |
A |
T |
7: 99,416,431 (GRCm39) |
I21F |
probably benign |
Het |
| Otog |
A |
G |
7: 45,924,019 (GRCm39) |
E1126G |
probably damaging |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,472,613 (GRCm39) |
|
probably benign |
Het |
| Pttg1ip2 |
C |
T |
5: 5,505,919 (GRCm39) |
A121T |
probably benign |
Het |
| Rab7 |
A |
G |
6: 87,990,624 (GRCm39) |
S17P |
probably damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Sppl2a |
A |
G |
2: 126,765,514 (GRCm39) |
S203P |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,868,439 (GRCm39) |
I314T |
possibly damaging |
Het |
| Tgs1 |
T |
C |
4: 3,593,471 (GRCm39) |
I453T |
probably damaging |
Het |
| Tmem117 |
C |
A |
15: 94,909,217 (GRCm39) |
T210N |
probably benign |
Het |
| Trim55 |
A |
G |
3: 19,698,906 (GRCm39) |
N45S |
probably damaging |
Het |
| Ugt2b34 |
G |
C |
5: 87,052,246 (GRCm39) |
S250* |
probably null |
Het |
| Vmn2r67 |
G |
A |
7: 84,785,974 (GRCm39) |
T677I |
probably damaging |
Het |
| Zfp335 |
C |
G |
2: 164,734,598 (GRCm39) |
|
probably benign |
Het |
| Znrf1 |
T |
A |
8: 112,263,986 (GRCm39) |
Y72N |
probably damaging |
Het |
|
| Other mutations in Lrfn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02187:Lrfn3
|
APN |
7 |
30,055,389 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0565:Lrfn3
|
UTSW |
7 |
30,060,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0826:Lrfn3
|
UTSW |
7 |
30,059,676 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1434:Lrfn3
|
UTSW |
7 |
30,055,352 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1442:Lrfn3
|
UTSW |
7 |
30,059,469 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2078:Lrfn3
|
UTSW |
7 |
30,059,879 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4580:Lrfn3
|
UTSW |
7 |
30,059,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4883:Lrfn3
|
UTSW |
7 |
30,055,238 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4928:Lrfn3
|
UTSW |
7 |
30,060,048 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5000:Lrfn3
|
UTSW |
7 |
30,059,805 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5364:Lrfn3
|
UTSW |
7 |
30,055,078 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5732:Lrfn3
|
UTSW |
7 |
30,059,031 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5857:Lrfn3
|
UTSW |
7 |
30,058,863 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7999:Lrfn3
|
UTSW |
7 |
30,059,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8146:Lrfn3
|
UTSW |
7 |
30,059,304 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8249:Lrfn3
|
UTSW |
7 |
30,059,298 (GRCm39) |
nonsense |
probably null |
|
|
R8937:Lrfn3
|
UTSW |
7 |
30,059,451 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8991:Lrfn3
|
UTSW |
7 |
30,059,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9568:Lrfn3
|
UTSW |
7 |
30,058,916 (GRCm39) |
missense |
probably benign |
0.41 |
|
X0064:Lrfn3
|
UTSW |
7 |
30,059,886 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1088:Lrfn3
|
UTSW |
7 |
30,059,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Lrfn3
|
UTSW |
7 |
30,060,084 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGTGAGCAATTTGGTGAGTCTG -3'
(R):5'- TTGGGTATTGGGTGACCACAGTCC -3'
Sequencing Primer
(F):5'- CAATTGGACCACAGTATGGGC -3'
(R):5'- TCCCTCAGGATGATCCCAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation