Incidental Mutation 'R5084:Fbrsl1'
| ID |
387295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbrsl1
|
| Ensembl Gene |
ENSMUSG00000043323 |
| Gene Name |
fibrosin-like 1 |
| Synonyms |
LOC381668, 2410025L10Rik, Gm29766 |
| MMRRC Submission |
042673-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R5084 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
110509617-110596369 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
G to A
at 110527272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056124]
[ENSMUST00000069483]
[ENSMUST00000196801]
[ENSMUST00000198768]
[ENSMUST00000198834]
|
| AlphaFold |
E9Q9T0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056124
|
| SMART Domains |
Protein: ENSMUSP00000054613
Gene: ENSMUSG00000043323
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
100 |
N/A |
INTRINSIC |
|
Pfam:Auts2
|
125 |
329 |
3.1e-96 |
PFAM |
|
low complexity region
|
464 |
480 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
542 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
559 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000069483
|
| SMART Domains |
Protein: ENSMUSP00000063879
Gene: ENSMUSG00000043323
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
514 |
N/A |
INTRINSIC |
|
Pfam:Auts2
|
564 |
767 |
1.9e-95 |
PFAM |
|
low complexity region
|
902 |
918 |
N/A |
INTRINSIC |
|
low complexity region
|
936 |
951 |
N/A |
INTRINSIC |
|
low complexity region
|
966 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
981 |
997 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000196801
|
| SMART Domains |
Protein: ENSMUSP00000142625
Gene: ENSMUSG00000043323
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000198768
|
| SMART Domains |
Protein: ENSMUSP00000142379
Gene: ENSMUSG00000043323
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
232 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198834
|
| SMART Domains |
Protein: ENSMUSP00000143147
Gene: ENSMUSG00000043323
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
100 |
N/A |
INTRINSIC |
|
Pfam:Auts2
|
150 |
353 |
4.1e-107 |
PFAM |
|
low complexity region
|
488 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
583 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
T |
A |
9: 104,204,116 (GRCm39) |
E59D |
probably damaging |
Het |
| Akap7 |
T |
A |
10: 25,155,640 (GRCm39) |
|
probably benign |
Het |
| Anpep |
C |
A |
7: 79,476,618 (GRCm39) |
|
probably null |
Het |
| Aste1 |
T |
A |
9: 105,274,886 (GRCm39) |
Y314* |
probably null |
Het |
| Ccdc183 |
G |
A |
2: 25,498,802 (GRCm39) |
T497I |
probably damaging |
Het |
| Cd4 |
A |
T |
6: 124,847,402 (GRCm39) |
I254N |
probably damaging |
Het |
| Crot |
G |
T |
5: 9,019,994 (GRCm39) |
H449Q |
probably damaging |
Het |
| Dact2 |
A |
T |
17: 14,418,214 (GRCm39) |
W164R |
possibly damaging |
Het |
| Dapk3 |
C |
A |
10: 81,026,152 (GRCm39) |
|
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Flg |
T |
C |
3: 93,184,922 (GRCm39) |
F15L |
probably damaging |
Het |
| Fscn2 |
A |
G |
11: 120,252,686 (GRCm39) |
D51G |
probably damaging |
Het |
| H2-Ob |
G |
T |
17: 34,460,102 (GRCm39) |
G71V |
probably damaging |
Het |
| Hmgcs1 |
T |
C |
13: 120,161,520 (GRCm39) |
V104A |
possibly damaging |
Het |
| Hs3st4 |
G |
T |
7: 123,996,518 (GRCm39) |
D395Y |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Ldlrad3 |
G |
A |
2: 101,900,329 (GRCm39) |
R58C |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,626,983 (GRCm39) |
S188P |
probably damaging |
Het |
| Mamdc2 |
G |
T |
19: 23,336,516 (GRCm39) |
T331K |
possibly damaging |
Het |
| Matr3 |
G |
A |
18: 35,715,135 (GRCm39) |
S195N |
probably damaging |
Het |
| Nktr |
T |
C |
9: 121,577,176 (GRCm39) |
Y390H |
possibly damaging |
Het |
| Notch3 |
C |
T |
17: 32,376,864 (GRCm39) |
|
probably null |
Het |
| Olfm3 |
T |
C |
3: 114,698,202 (GRCm39) |
|
probably null |
Het |
| Or10ak11 |
A |
G |
4: 118,686,767 (GRCm39) |
V290A |
probably damaging |
Het |
| Or2a20 |
T |
C |
6: 43,194,594 (GRCm39) |
L249P |
probably damaging |
Het |
| Or5h25 |
C |
T |
16: 58,930,436 (GRCm39) |
C179Y |
possibly damaging |
Het |
| Or7e173 |
T |
A |
9: 19,938,551 (GRCm39) |
I228F |
probably damaging |
Het |
| Or7g17 |
T |
A |
9: 18,768,632 (GRCm39) |
M237K |
probably benign |
Het |
| Pask |
A |
G |
1: 93,249,819 (GRCm39) |
V527A |
probably benign |
Het |
| Pcdha6 |
A |
T |
18: 37,102,016 (GRCm39) |
N403I |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,710,848 (GRCm39) |
E1458G |
probably damaging |
Het |
| Pip4k2b |
G |
A |
11: 97,610,569 (GRCm39) |
T386M |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,892,004 (GRCm39) |
M272V |
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,844,571 (GRCm39) |
E163G |
probably damaging |
Het |
| Plk5 |
C |
A |
10: 80,194,723 (GRCm39) |
R149S |
possibly damaging |
Het |
| Pou4f3 |
A |
T |
18: 42,528,933 (GRCm39) |
Y292F |
probably damaging |
Het |
| Rasgef1c |
A |
G |
11: 49,860,332 (GRCm39) |
K272E |
probably damaging |
Het |
| Rbl2 |
C |
T |
8: 91,841,759 (GRCm39) |
T942M |
probably benign |
Het |
| Sipa1l3 |
G |
A |
7: 29,048,000 (GRCm39) |
S247F |
probably damaging |
Het |
| Smarca4 |
T |
C |
9: 21,572,059 (GRCm39) |
L777P |
probably damaging |
Het |
| Smpd1 |
T |
C |
7: 105,206,185 (GRCm39) |
Y438H |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,887,673 (GRCm39) |
K2052R |
probably benign |
Het |
| Spata31d1c |
C |
A |
13: 65,182,944 (GRCm39) |
P162Q |
probably damaging |
Het |
| Spmip9 |
A |
G |
6: 70,892,688 (GRCm39) |
S20P |
possibly damaging |
Het |
| Ston1 |
A |
T |
17: 88,944,002 (GRCm39) |
E469D |
probably benign |
Het |
| Syde2 |
AGTTC |
AGTTCGTTC |
3: 145,707,164 (GRCm39) |
|
probably null |
Het |
| Syde2 |
CAGTT |
CAGTTAGTT |
3: 145,707,163 (GRCm39) |
|
probably null |
Het |
| Taar5 |
T |
A |
10: 23,846,836 (GRCm39) |
L78Q |
probably damaging |
Het |
| Tas2r114 |
A |
T |
6: 131,666,251 (GRCm39) |
L259* |
probably null |
Het |
| Topaz1 |
T |
A |
9: 122,577,883 (GRCm39) |
H264Q |
probably benign |
Het |
| Vcl |
G |
T |
14: 21,059,027 (GRCm39) |
V548L |
possibly damaging |
Het |
| Vmn2r57 |
C |
A |
7: 41,075,974 (GRCm39) |
|
probably null |
Het |
| Vmn2r92 |
A |
G |
17: 18,405,439 (GRCm39) |
*861W |
probably null |
Het |
| Ylpm1 |
T |
G |
12: 85,076,095 (GRCm39) |
V940G |
probably damaging |
Het |
| Zfp236 |
A |
G |
18: 82,627,556 (GRCm39) |
S1500P |
probably damaging |
Het |
| Zfp384 |
G |
T |
6: 125,000,642 (GRCm39) |
|
probably benign |
Het |
| Zfp786 |
T |
C |
6: 47,796,953 (GRCm39) |
M662V |
probably benign |
Het |
|
| Other mutations in Fbrsl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01413:Fbrsl1
|
APN |
5 |
110,526,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01743:Fbrsl1
|
APN |
5 |
110,529,506 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01910:Fbrsl1
|
APN |
5 |
110,511,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
FR4342:Fbrsl1
|
UTSW |
5 |
110,525,991 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Fbrsl1
|
UTSW |
5 |
110,526,016 (GRCm39) |
small insertion |
probably benign |
|
|
R0084:Fbrsl1
|
UTSW |
5 |
110,527,381 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0126:Fbrsl1
|
UTSW |
5 |
110,543,906 (GRCm39) |
splice site |
probably benign |
|
|
R0336:Fbrsl1
|
UTSW |
5 |
110,595,817 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1196:Fbrsl1
|
UTSW |
5 |
110,522,385 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1712:Fbrsl1
|
UTSW |
5 |
110,595,862 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1998:Fbrsl1
|
UTSW |
5 |
110,524,305 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2081:Fbrsl1
|
UTSW |
5 |
110,519,491 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2108:Fbrsl1
|
UTSW |
5 |
110,526,300 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4420:Fbrsl1
|
UTSW |
5 |
110,526,852 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4472:Fbrsl1
|
UTSW |
5 |
110,526,932 (GRCm39) |
start gained |
probably benign |
|
|
R4931:Fbrsl1
|
UTSW |
5 |
110,526,895 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4994:Fbrsl1
|
UTSW |
5 |
110,595,817 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5025:Fbrsl1
|
UTSW |
5 |
110,565,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5326:Fbrsl1
|
UTSW |
5 |
110,526,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5542:Fbrsl1
|
UTSW |
5 |
110,526,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5590:Fbrsl1
|
UTSW |
5 |
110,529,484 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6168:Fbrsl1
|
UTSW |
5 |
110,543,922 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6234:Fbrsl1
|
UTSW |
5 |
110,525,917 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6325:Fbrsl1
|
UTSW |
5 |
110,525,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6661:Fbrsl1
|
UTSW |
5 |
110,525,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7269:Fbrsl1
|
UTSW |
5 |
110,580,880 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7514:Fbrsl1
|
UTSW |
5 |
110,580,799 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7586:Fbrsl1
|
UTSW |
5 |
110,526,020 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7791:Fbrsl1
|
UTSW |
5 |
110,595,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8108:Fbrsl1
|
UTSW |
5 |
110,526,245 (GRCm39) |
splice site |
probably null |
|
|
R8182:Fbrsl1
|
UTSW |
5 |
110,526,861 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8679:Fbrsl1
|
UTSW |
5 |
110,526,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9234:Fbrsl1
|
UTSW |
5 |
110,511,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9753:Fbrsl1
|
UTSW |
5 |
110,526,835 (GRCm39) |
missense |
unknown |
|
|
RF008:Fbrsl1
|
UTSW |
5 |
110,525,984 (GRCm39) |
small insertion |
probably benign |
|
|
RF029:Fbrsl1
|
UTSW |
5 |
110,526,005 (GRCm39) |
small insertion |
probably benign |
|
|
RF031:Fbrsl1
|
UTSW |
5 |
110,526,017 (GRCm39) |
small insertion |
probably benign |
|
|
RF033:Fbrsl1
|
UTSW |
5 |
110,525,991 (GRCm39) |
small insertion |
probably benign |
|
|
RF034:Fbrsl1
|
UTSW |
5 |
110,526,015 (GRCm39) |
small insertion |
probably benign |
|
|
RF037:Fbrsl1
|
UTSW |
5 |
110,526,017 (GRCm39) |
nonsense |
probably null |
|
|
RF061:Fbrsl1
|
UTSW |
5 |
110,525,997 (GRCm39) |
small insertion |
probably benign |
|
|
RF063:Fbrsl1
|
UTSW |
5 |
110,526,009 (GRCm39) |
small insertion |
probably benign |
|
|
RF063:Fbrsl1
|
UTSW |
5 |
110,526,005 (GRCm39) |
small insertion |
probably benign |
|
|
RF064:Fbrsl1
|
UTSW |
5 |
110,525,997 (GRCm39) |
small insertion |
probably benign |
|
|
V7582:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0018:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0019:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0020:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0021:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0022:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0022:Fbrsl1
|
UTSW |
5 |
110,519,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0024:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0027:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0050:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0052:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0053:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0054:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0057:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0058:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0060:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0061:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0062:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0063:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0064:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0065:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0066:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0067:Fbrsl1
|
UTSW |
5 |
110,527,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
|
| Posted On |
2016-06-06 |
Incidental Mutation