Incidental Mutation 'R5542:Fbrsl1'
ID |
436020 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbrsl1
|
Ensembl Gene |
ENSMUSG00000043323 |
Gene Name |
fibrosin-like 1 |
Synonyms |
LOC381668, 2410025L10Rik, Gm29766 |
MMRRC Submission |
043100-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R5542 (G1)
|
Quality Score |
215 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
110509617-110596369 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 110526307 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 437
(G437R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142625
(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: G437R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000063879 Gene: ENSMUSG00000043323 AA Change: G437R
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: G437R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000142625 Gene: ENSMUSG00000043323 AA Change: G437R
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 benign
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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
C |
T |
3: 59,932,484 (GRCm39) |
T333I |
probably damaging |
Het |
Acacb |
C |
T |
5: 114,333,798 (GRCm39) |
R574C |
probably damaging |
Het |
Actr10 |
T |
C |
12: 71,001,430 (GRCm39) |
|
probably benign |
Het |
Ankdd1a |
T |
A |
9: 65,411,472 (GRCm39) |
|
probably null |
Het |
Anks4b |
C |
T |
7: 119,781,646 (GRCm39) |
Q226* |
probably null |
Het |
AW146154 |
C |
A |
7: 41,130,801 (GRCm39) |
G105V |
probably benign |
Het |
Cdh4 |
T |
A |
2: 179,502,019 (GRCm39) |
N326K |
probably damaging |
Het |
Cnbd1 |
T |
C |
4: 18,860,517 (GRCm39) |
T410A |
possibly damaging |
Het |
Cndp2 |
A |
T |
18: 84,690,201 (GRCm39) |
M247K |
probably damaging |
Het |
Crx |
G |
A |
7: 15,602,262 (GRCm39) |
R139C |
probably damaging |
Het |
Ctrc |
A |
G |
4: 141,571,037 (GRCm39) |
Y68H |
probably damaging |
Het |
Ddx4 |
T |
C |
13: 112,757,779 (GRCm39) |
D326G |
probably damaging |
Het |
Edem1 |
C |
T |
6: 108,831,290 (GRCm39) |
R584C |
possibly damaging |
Het |
Emcn |
A |
G |
3: 137,085,638 (GRCm39) |
T79A |
probably benign |
Het |
Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
Fbxo7 |
A |
C |
10: 85,869,149 (GRCm39) |
Q201P |
probably benign |
Het |
Fbxo9 |
T |
C |
9: 78,008,938 (GRCm39) |
M12V |
possibly damaging |
Het |
Fcgbpl1 |
A |
T |
7: 27,854,914 (GRCm39) |
I1847F |
probably damaging |
Het |
Flii |
A |
G |
11: 60,609,688 (GRCm39) |
S640P |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,812,207 (GRCm39) |
N2842I |
possibly damaging |
Het |
Fst |
G |
T |
13: 114,592,241 (GRCm39) |
Q159K |
probably damaging |
Het |
Fuom |
A |
T |
7: 139,680,025 (GRCm39) |
*109R |
probably null |
Het |
Hhipl2 |
A |
G |
1: 183,214,055 (GRCm39) |
D377G |
probably damaging |
Het |
Hspa14 |
A |
G |
2: 3,503,560 (GRCm39) |
V116A |
possibly damaging |
Het |
Ighm |
A |
G |
12: 113,382,601 (GRCm39) |
|
probably benign |
Het |
Ighv1-85 |
T |
A |
12: 115,963,847 (GRCm39) |
Y51F |
probably benign |
Het |
Ighv2-3 |
A |
T |
12: 113,574,833 (GRCm39) |
D107E |
probably benign |
Het |
Ighv2-6-8 |
T |
A |
12: 113,760,187 (GRCm39) |
M1L |
probably benign |
Het |
Ipo5 |
T |
C |
14: 121,163,683 (GRCm39) |
V247A |
probably benign |
Het |
Itga9 |
T |
C |
9: 118,672,729 (GRCm39) |
F154L |
possibly damaging |
Het |
Itprid1 |
C |
A |
6: 55,955,380 (GRCm39) |
P996Q |
probably damaging |
Het |
Knl1 |
T |
A |
2: 118,898,829 (GRCm39) |
C177S |
possibly damaging |
Het |
Lrrc17 |
G |
A |
5: 21,780,156 (GRCm39) |
G377S |
probably damaging |
Het |
Marveld3 |
A |
T |
8: 110,675,249 (GRCm39) |
I189K |
probably benign |
Het |
Msantd2 |
G |
A |
9: 37,428,555 (GRCm39) |
G185R |
probably damaging |
Het |
Mtcl1 |
G |
A |
17: 66,691,354 (GRCm39) |
|
probably benign |
Het |
Muc21 |
T |
C |
17: 35,933,395 (GRCm39) |
|
probably benign |
Het |
Mycbpap |
A |
T |
11: 94,398,572 (GRCm39) |
|
probably null |
Het |
Nbeal1 |
A |
G |
1: 60,316,353 (GRCm39) |
D1852G |
probably benign |
Het |
Ndc80 |
A |
T |
17: 71,807,276 (GRCm39) |
V560D |
probably benign |
Het |
Nscme3l |
A |
T |
19: 5,553,463 (GRCm39) |
V106D |
probably damaging |
Het |
Or1e25 |
T |
A |
11: 73,494,030 (GRCm39) |
V208E |
possibly damaging |
Het |
Or2t48 |
A |
C |
11: 58,420,710 (GRCm39) |
V34G |
probably benign |
Het |
Or56a3 |
A |
T |
7: 104,735,565 (GRCm39) |
D214V |
probably damaging |
Het |
Or6a2 |
A |
T |
7: 106,600,286 (GRCm39) |
S260R |
probably damaging |
Het |
Or9i1b |
T |
C |
19: 13,896,411 (GRCm39) |
V9A |
probably benign |
Het |
Pcdhga4 |
A |
T |
18: 37,819,651 (GRCm39) |
Y400F |
probably damaging |
Het |
Pkd2 |
A |
G |
5: 104,634,515 (GRCm39) |
|
silent |
Het |
Plxna4 |
T |
A |
6: 32,183,165 (GRCm39) |
I913F |
probably damaging |
Het |
Psmc1 |
T |
C |
12: 100,086,399 (GRCm39) |
|
probably null |
Het |
Robo2 |
G |
A |
16: 73,695,853 (GRCm39) |
T1430I |
probably benign |
Het |
Safb2 |
G |
A |
17: 56,882,647 (GRCm39) |
R329C |
probably damaging |
Het |
Septin14 |
T |
C |
5: 129,774,926 (GRCm39) |
H83R |
probably damaging |
Het |
Slc16a10 |
A |
G |
10: 39,952,784 (GRCm39) |
F237L |
probably benign |
Het |
Slc37a1 |
A |
T |
17: 31,559,236 (GRCm39) |
T439S |
probably damaging |
Het |
Slc6a6 |
T |
C |
6: 91,712,170 (GRCm39) |
F233S |
probably damaging |
Het |
Smyd3 |
A |
T |
1: 179,238,024 (GRCm39) |
D114E |
probably benign |
Het |
Sned1 |
T |
C |
1: 93,199,324 (GRCm39) |
I468T |
probably benign |
Het |
Speer4a1 |
T |
A |
5: 26,241,736 (GRCm39) |
N130I |
probably damaging |
Het |
Tdrd7 |
T |
C |
4: 46,029,757 (GRCm39) |
V1030A |
probably benign |
Het |
Trip12 |
A |
T |
1: 84,727,065 (GRCm39) |
D1135E |
probably damaging |
Het |
Tsga10 |
T |
A |
1: 37,800,598 (GRCm39) |
D542V |
probably damaging |
Het |
Ubqlnl |
G |
A |
7: 103,798,904 (GRCm39) |
Q198* |
probably null |
Het |
Unc93a2 |
A |
T |
17: 7,637,187 (GRCm39) |
C334S |
probably benign |
Het |
Usp46 |
A |
T |
5: 74,189,902 (GRCm39) |
M43K |
probably benign |
Het |
Vmn1r175 |
A |
T |
7: 23,508,531 (GRCm39) |
I32N |
possibly damaging |
Het |
Vmn1r29 |
C |
T |
6: 58,285,108 (GRCm39) |
T276I |
probably benign |
Het |
Vmn1r81 |
A |
T |
7: 11,994,034 (GRCm39) |
D191E |
probably damaging |
Het |
Zbtb5 |
C |
A |
4: 44,995,052 (GRCm39) |
V111F |
probably damaging |
Het |
Zfp12 |
C |
T |
5: 143,230,240 (GRCm39) |
P189L |
possibly damaging |
Het |
Zfp729b |
A |
G |
13: 67,739,140 (GRCm39) |
F1042L |
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 |
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 |
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'- ACCAGAAACCGCGTGTTCAG -3'
(R):5'- TAATCTCTGAAGGATTTCCGAGC -3'
Sequencing Primer
(F):5'- CCTGAGCAGTTCGTGATCTACAAG -3'
(R):5'- TCTGAAGGATTTCCGAGCAGTCAC -3'
|
Posted On |
2016-10-24 |