Incidental Mutation 'R0084:Fbrsl1'
| ID |
19801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbrsl1
|
| Ensembl Gene |
ENSMUSG00000043323 |
| Gene Name |
fibrosin-like 1 |
| Synonyms |
LOC381668, 2410025L10Rik, Gm29766 |
| MMRRC Submission |
038371-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R0084 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110509617-110596369 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110527381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 262
(L262P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063879
(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 |
probably damaging
Transcript: ENSMUST00000069483
AA Change: L262P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000063879
Gene: ENSMUSG00000043323
AA Change: L262P
| 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 |
probably damaging
Transcript: ENSMUST00000196801
AA Change: L262P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142625
Gene: ENSMUSG00000043323
AA Change: L262P
| 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 |
probably damaging
Transcript: ENSMUST00000198768
AA Change: L99P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142379
Gene: ENSMUSG00000043323
AA Change: L99P
| 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 |
|
| Meta Mutation Damage Score |
0.0907 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.0%
- 10x: 94.5%
- 20x: 86.0%
|
| Validation Efficiency |
99% (77/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,927,423 (GRCm39) |
|
probably benign |
Het |
| Abcc9 |
A |
G |
6: 142,604,277 (GRCm39) |
Y653H |
probably damaging |
Het |
| Acp3 |
A |
T |
9: 104,191,564 (GRCm39) |
S241T |
probably benign |
Het |
| Acvr1 |
A |
G |
2: 58,348,895 (GRCm39) |
|
probably null |
Het |
| Adgb |
T |
C |
10: 10,272,088 (GRCm39) |
N832S |
possibly damaging |
Het |
| AI182371 |
A |
G |
2: 34,975,714 (GRCm39) |
|
probably null |
Het |
| Anapc1 |
G |
A |
2: 128,465,886 (GRCm39) |
|
probably benign |
Het |
| Apba1 |
T |
C |
19: 23,889,861 (GRCm39) |
S420P |
possibly damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Bpifb2 |
A |
T |
2: 153,733,011 (GRCm39) |
M365L |
probably benign |
Het |
| Btnl9 |
A |
T |
11: 49,069,606 (GRCm39) |
N224K |
possibly damaging |
Het |
| Cntn1 |
A |
T |
15: 92,215,798 (GRCm39) |
I944L |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,296,265 (GRCm39) |
|
probably benign |
Het |
| Dcaf11 |
C |
T |
14: 55,806,700 (GRCm39) |
R468C |
probably benign |
Het |
| E4f1 |
T |
C |
17: 24,663,056 (GRCm39) |
T750A |
possibly damaging |
Het |
| Ercc5 |
A |
G |
1: 44,215,136 (GRCm39) |
K890E |
possibly damaging |
Het |
| Flnb |
A |
G |
14: 7,935,979 (GRCm38) |
D2273G |
probably benign |
Het |
| Gm9848 |
A |
T |
13: 113,244,776 (GRCm39) |
|
noncoding transcript |
Het |
| Hcrtr1 |
T |
A |
4: 130,031,059 (GRCm39) |
H75L |
possibly damaging |
Het |
| Heatr9 |
A |
T |
11: 83,403,721 (GRCm39) |
|
probably benign |
Het |
| Htatip2 |
G |
A |
7: 49,409,420 (GRCm39) |
G58D |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,445,918 (GRCm39) |
Y210* |
probably null |
Het |
| Lmntd1 |
G |
A |
6: 145,350,254 (GRCm39) |
H234Y |
unknown |
Het |
| Ly6g2 |
T |
A |
15: 75,089,624 (GRCm39) |
M44K |
probably benign |
Het |
| Map4k3 |
T |
C |
17: 80,963,343 (GRCm39) |
K85E |
possibly damaging |
Het |
| Moxd2 |
T |
C |
6: 40,856,342 (GRCm39) |
D510G |
probably null |
Het |
| Mpv17l2 |
A |
T |
8: 71,217,190 (GRCm39) |
|
probably benign |
Het |
| Nbeal2 |
A |
G |
9: 110,472,778 (GRCm39) |
|
probably null |
Het |
| Ncapd3 |
A |
G |
9: 26,967,407 (GRCm39) |
D581G |
probably damaging |
Het |
| Ndufb5 |
T |
C |
3: 32,791,352 (GRCm39) |
V33A |
probably benign |
Het |
| Or10a49 |
A |
T |
7: 108,468,007 (GRCm39) |
M118K |
probably damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,890,669 (GRCm39) |
T524A |
probably benign |
Het |
| Otogl |
A |
C |
10: 107,737,202 (GRCm39) |
S71A |
probably damaging |
Het |
| Ovol2 |
G |
T |
2: 144,147,808 (GRCm39) |
N180K |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,823,774 (GRCm39) |
V219A |
probably benign |
Het |
| Paox |
C |
T |
7: 139,712,359 (GRCm39) |
R197* |
probably null |
Het |
| Pax2 |
T |
A |
19: 44,806,874 (GRCm39) |
Y290N |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,516,937 (GRCm39) |
M933T |
possibly damaging |
Het |
| Ppfia4 |
G |
T |
1: 134,227,164 (GRCm39) |
R1124S |
possibly damaging |
Het |
| Prkch |
T |
C |
12: 73,744,761 (GRCm39) |
F258S |
possibly damaging |
Het |
| Rhob |
G |
A |
12: 8,549,107 (GRCm39) |
R176C |
probably benign |
Het |
| Sbf2 |
A |
T |
7: 110,041,573 (GRCm39) |
I326N |
possibly damaging |
Het |
| Scgb2b2 |
A |
T |
7: 31,003,041 (GRCm39) |
E45D |
probably benign |
Het |
| Scube3 |
T |
A |
17: 28,381,935 (GRCm39) |
D320E |
probably benign |
Het |
| Serpina1f |
A |
G |
12: 103,659,847 (GRCm39) |
V145A |
possibly damaging |
Het |
| Slc28a2b |
A |
G |
2: 122,353,314 (GRCm39) |
Y498C |
possibly damaging |
Het |
| Slc6a5 |
A |
C |
7: 49,579,761 (GRCm39) |
I380L |
probably benign |
Het |
| Spag16 |
A |
G |
1: 70,035,998 (GRCm39) |
N342S |
probably benign |
Het |
| Spata16 |
A |
G |
3: 26,721,559 (GRCm39) |
T27A |
possibly damaging |
Het |
| Spock3 |
A |
C |
8: 63,596,963 (GRCm39) |
K89T |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,481,797 (GRCm39) |
V795A |
probably damaging |
Het |
| Tirap |
G |
T |
9: 35,100,458 (GRCm39) |
H75Q |
probably benign |
Het |
| Tpk1 |
C |
A |
6: 43,323,763 (GRCm39) |
V229L |
possibly damaging |
Het |
| Tshz2 |
A |
G |
2: 169,726,286 (GRCm39) |
H294R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,703,043 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
C |
T |
11: 115,954,657 (GRCm39) |
V984M |
probably damaging |
Het |
| Zbtb43 |
A |
T |
2: 33,343,996 (GRCm39) |
Y373N |
probably damaging |
Het |
| Zfp646 |
T |
A |
7: 127,480,476 (GRCm39) |
H884Q |
possibly damaging |
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 |
|
|
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 |
|
R5084:Fbrsl1
|
UTSW |
5 |
110,527,272 (GRCm39) |
start gained |
probably benign |
|
|
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 |
PCR Primer
(F):5'- AGTGGCATCCTTGCTCTCAGAACC -3'
(R):5'- ACACCCGAGCTTATCTGTGTGACC -3'
Sequencing Primer
(F):5'- TTGCTCTCAGAACCCGGAC -3'
(R):5'- acttatttctgttcatgtttcccc -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation