Incidental Mutation 'R3905:Lrfn1'
| ID |
309145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrfn1
|
| Ensembl Gene |
ENSMUSG00000030600 |
| Gene Name |
leucine rich repeat and fibronectin type III domain containing 1 |
| Synonyms |
SALM2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.405)
|
| Stock # |
R3905 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28151405-28167667 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28166294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 563
(G563R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040531]
[ENSMUST00000055110]
[ENSMUST00000108288]
[ENSMUST00000189877]
|
| AlphaFold |
Q2WF71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040531
|
| SMART Domains |
Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
81 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
290 |
N/A |
INTRINSIC |
|
SAM
|
296 |
359 |
1.02e-9 |
SMART |
|
low complexity region
|
406 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055110
|
| SMART Domains |
Protein: ENSMUSP00000057645
Gene: ENSMUSG00000030600
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
LRR
|
88 |
111 |
8.67e-1 |
SMART |
|
LRR
|
112 |
135 |
4.57e0 |
SMART |
|
LRR_TYP
|
136 |
159 |
1.69e-3 |
SMART |
|
LRR
|
161 |
184 |
2.54e1 |
SMART |
|
LRR
|
185 |
208 |
2.32e-1 |
SMART |
|
LRR
|
209 |
233 |
3.75e0 |
SMART |
|
LRRCT
|
252 |
297 |
1.36e-3 |
SMART |
|
IGc2
|
312 |
377 |
1.51e-12 |
SMART |
|
low complexity region
|
389 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
460 |
471 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108288
AA Change: G563R
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103923
Gene: ENSMUSG00000030600
AA Change: G563R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
LRR
|
88 |
111 |
8.67e-1 |
SMART |
|
LRR
|
112 |
135 |
4.57e0 |
SMART |
|
LRR_TYP
|
136 |
159 |
1.69e-3 |
SMART |
|
LRR
|
161 |
184 |
2.54e1 |
SMART |
|
LRR
|
185 |
208 |
2.32e-1 |
SMART |
|
LRR
|
209 |
233 |
3.75e0 |
SMART |
|
LRRCT
|
252 |
297 |
1.36e-3 |
SMART |
|
IGc2
|
312 |
377 |
1.51e-12 |
SMART |
|
low complexity region
|
389 |
403 |
N/A |
INTRINSIC |
|
FN3
|
422 |
502 |
2.68e-2 |
SMART |
|
transmembrane domain
|
535 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
609 |
625 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
725 |
N/A |
INTRINSIC |
|
low complexity region
|
730 |
747 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189877
|
| SMART Domains |
Protein: ENSMUSP00000139609
Gene: ENSMUSG00000030600
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
LRR
|
88 |
111 |
8.67e-1 |
SMART |
|
LRR
|
112 |
135 |
4.57e0 |
SMART |
|
LRR_TYP
|
136 |
159 |
1.69e-3 |
SMART |
|
LRR
|
161 |
184 |
2.54e1 |
SMART |
|
LRR
|
185 |
208 |
2.32e-1 |
SMART |
|
LRR
|
209 |
233 |
3.75e0 |
SMART |
|
LRRCT
|
252 |
297 |
1.36e-3 |
SMART |
|
IGc2
|
312 |
377 |
1.51e-12 |
SMART |
|
low complexity region
|
389 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
460 |
471 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,307,389 (GRCm39) |
I1964N |
possibly damaging |
Het |
| Abca12 |
A |
G |
1: 71,318,616 (GRCm39) |
F1796L |
probably benign |
Het |
| Abca17 |
T |
A |
17: 24,515,257 (GRCm39) |
M821L |
probably benign |
Het |
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Ap4b1 |
A |
T |
3: 103,726,209 (GRCm39) |
I262F |
possibly damaging |
Het |
| Atp1a1 |
T |
A |
3: 101,497,928 (GRCm39) |
E286D |
probably benign |
Het |
| Bard1 |
T |
C |
1: 71,106,339 (GRCm39) |
I429M |
possibly damaging |
Het |
| Bcl7c |
T |
C |
7: 127,266,155 (GRCm39) |
R198G |
possibly damaging |
Het |
| Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
| Ccdc159 |
T |
A |
9: 21,845,815 (GRCm39) |
|
probably null |
Het |
| Cct7 |
A |
T |
6: 85,443,690 (GRCm39) |
I353F |
possibly damaging |
Het |
| Cfap57 |
A |
G |
4: 118,453,036 (GRCm39) |
Y556H |
probably damaging |
Het |
| Fat1 |
G |
C |
8: 45,476,072 (GRCm39) |
R1706T |
probably benign |
Het |
| Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
| Gcat |
T |
C |
15: 78,927,531 (GRCm39) |
L324P |
possibly damaging |
Het |
| Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
| Il22 |
C |
T |
10: 118,041,529 (GRCm39) |
R81* |
probably null |
Het |
| Impa1 |
T |
C |
3: 10,381,094 (GRCm39) |
T263A |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,956,166 (GRCm39) |
Y609C |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,706,624 (GRCm39) |
N1396D |
probably benign |
Het |
| Mark1 |
A |
C |
1: 184,640,632 (GRCm39) |
|
probably null |
Het |
| Mxd1 |
G |
T |
6: 86,627,942 (GRCm39) |
Q199K |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,448,227 (GRCm39) |
Y1N |
probably damaging |
Het |
| Nek3 |
T |
C |
8: 22,623,107 (GRCm39) |
E309G |
probably benign |
Het |
| Or10h28 |
T |
C |
17: 33,487,749 (GRCm39) |
F17S |
probably damaging |
Het |
| Otoa |
A |
T |
7: 120,724,788 (GRCm39) |
Q489L |
probably damaging |
Het |
| Oxsr1 |
T |
C |
9: 119,076,178 (GRCm39) |
E376G |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,208,882 (GRCm39) |
E2494K |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,373,511 (GRCm39) |
H1349R |
probably benign |
Het |
| Psmd2 |
A |
G |
16: 20,474,392 (GRCm39) |
D316G |
probably benign |
Het |
| Pwwp3a |
T |
C |
10: 80,074,150 (GRCm39) |
V401A |
probably damaging |
Het |
| Robo4 |
T |
A |
9: 37,314,801 (GRCm39) |
C218* |
probably null |
Het |
| Rxfp2 |
A |
T |
5: 149,979,450 (GRCm39) |
|
probably null |
Het |
| Slc10a1 |
A |
G |
12: 81,014,441 (GRCm39) |
I93T |
probably damaging |
Het |
| Tarbp1 |
C |
T |
8: 127,154,891 (GRCm39) |
R1411Q |
probably damaging |
Het |
| Tbl3 |
C |
T |
17: 24,921,006 (GRCm39) |
D563N |
probably damaging |
Het |
| Tec |
A |
G |
5: 72,917,705 (GRCm39) |
S505P |
probably damaging |
Het |
| Toporsl |
A |
T |
4: 52,611,750 (GRCm39) |
R548* |
probably null |
Het |
| Vmn1r39 |
G |
A |
6: 66,781,479 (GRCm39) |
Q243* |
probably null |
Het |
| Vmn2r9 |
C |
A |
5: 108,995,785 (GRCm39) |
A288S |
probably benign |
Het |
|
| Other mutations in Lrfn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00494:Lrfn1
|
APN |
7 |
28,159,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01565:Lrfn1
|
APN |
7 |
28,158,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01622:Lrfn1
|
APN |
7 |
28,166,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01623:Lrfn1
|
APN |
7 |
28,166,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02176:Lrfn1
|
APN |
7 |
28,158,111 (GRCm39) |
intron |
probably benign |
|
|
IGL02642:Lrfn1
|
APN |
7 |
28,158,113 (GRCm39) |
intron |
probably benign |
|
|
R1123:Lrfn1
|
UTSW |
7 |
28,166,544 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1838:Lrfn1
|
UTSW |
7 |
28,159,193 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3000:Lrfn1
|
UTSW |
7 |
28,166,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3551:Lrfn1
|
UTSW |
7 |
28,159,479 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4246:Lrfn1
|
UTSW |
7 |
28,159,367 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5621:Lrfn1
|
UTSW |
7 |
28,166,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6267:Lrfn1
|
UTSW |
7 |
28,159,169 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6902:Lrfn1
|
UTSW |
7 |
28,159,238 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7059:Lrfn1
|
UTSW |
7 |
28,166,355 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7073:Lrfn1
|
UTSW |
7 |
28,159,397 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7208:Lrfn1
|
UTSW |
7 |
28,166,564 (GRCm39) |
missense |
probably benign |
|
|
R7402:Lrfn1
|
UTSW |
7 |
28,158,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8378:Lrfn1
|
UTSW |
7 |
28,159,157 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8791:Lrfn1
|
UTSW |
7 |
28,159,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8870:Lrfn1
|
UTSW |
7 |
28,158,918 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9452:Lrfn1
|
UTSW |
7 |
28,159,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9483:Lrfn1
|
UTSW |
7 |
28,158,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9579:Lrfn1
|
UTSW |
7 |
28,166,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9649:Lrfn1
|
UTSW |
7 |
28,166,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Lrfn1
|
UTSW |
7 |
28,158,540 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCAGTCTATGACGACGG -3'
(R):5'- CACCTCTAGCTCAGTGGAAG -3'
Sequencing Primer
(F):5'- TCTATGACGACGGGGCCAC -3'
(R):5'- TCTAGCTCAGTGGAAGTCGCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation