Incidental Mutation 'R4994:Fbrsl1'
| ID |
385091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbrsl1
|
| Ensembl Gene |
ENSMUSG00000043323 |
| Gene Name |
fibrosin-like 1 |
| Synonyms |
LOC381668, 2410025L10Rik, Gm29766 |
| MMRRC Submission |
042588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R4994 (G1)
|
| Quality Score |
99 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110509617-110596369 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110595817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 73
(S73P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069483]
[ENSMUST00000196801]
[ENSMUST00000200293]
|
| AlphaFold |
E9Q9T0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069483
AA Change: S73P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000063879
Gene: ENSMUSG00000043323
AA Change: S73P
| 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 |
noncoding transcript
Transcript: ENSMUST00000196305
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000196801
AA Change: S73P
|
| SMART Domains |
Protein: ENSMUSP00000142625
Gene: ENSMUSG00000043323
AA Change: S73P
| 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: ENSMUST00000200293
AA Change: S73P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143446
Gene: ENSMUSG00000043323
AA Change: S73P
| 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
|
179 |
211 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0775 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (79/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,208,962 (GRCm39) |
E364G |
probably benign |
Het |
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Abcb4 |
A |
G |
5: 8,978,524 (GRCm39) |
T557A |
probably damaging |
Het |
| Acadm |
C |
T |
3: 153,635,221 (GRCm39) |
E298K |
probably damaging |
Het |
| Adrb3 |
T |
C |
8: 27,717,855 (GRCm39) |
|
probably null |
Het |
| Aldh1b1 |
A |
G |
4: 45,803,128 (GRCm39) |
Y222C |
possibly damaging |
Het |
| Ankrd6 |
A |
G |
4: 32,860,387 (GRCm39) |
Y19H |
probably damaging |
Het |
| Arhgap21 |
T |
A |
2: 20,854,701 (GRCm39) |
T1554S |
probably benign |
Het |
| BC043934 |
T |
C |
9: 96,319,173 (GRCm39) |
|
noncoding transcript |
Het |
| Birc6 |
A |
G |
17: 74,901,319 (GRCm39) |
|
probably benign |
Het |
| Blm |
A |
C |
7: 80,108,573 (GRCm39) |
F1357C |
probably benign |
Het |
| Cd209a |
T |
C |
8: 3,797,713 (GRCm39) |
|
probably null |
Het |
| Cdk7 |
G |
A |
13: 100,854,103 (GRCm39) |
H129Y |
probably damaging |
Het |
| Clec14a |
G |
T |
12: 58,315,070 (GRCm39) |
P184Q |
probably damaging |
Het |
| Cma1 |
T |
A |
14: 56,179,128 (GRCm39) |
I243F |
probably damaging |
Het |
| Cntnap3 |
G |
T |
13: 64,909,798 (GRCm39) |
T769K |
possibly damaging |
Het |
| Col5a1 |
A |
C |
2: 27,922,751 (GRCm39) |
K273T |
possibly damaging |
Het |
| Csnk1e |
A |
G |
15: 79,309,129 (GRCm39) |
Y266H |
probably damaging |
Het |
| Cyb5d1 |
A |
G |
11: 69,284,597 (GRCm39) |
L185S |
probably damaging |
Het |
| Dennd5b |
T |
C |
6: 148,942,998 (GRCm39) |
|
probably null |
Het |
| Dipk2a |
C |
A |
9: 94,419,486 (GRCm39) |
R148L |
probably benign |
Het |
| Drp2 |
G |
A |
X: 133,342,065 (GRCm39) |
R567H |
probably damaging |
Homo |
| Dzank1 |
T |
G |
2: 144,364,486 (GRCm39) |
D37A |
probably damaging |
Het |
| Echdc2 |
A |
G |
4: 108,022,825 (GRCm39) |
I34V |
probably benign |
Het |
| Esm1 |
A |
T |
13: 113,349,965 (GRCm39) |
R128S |
probably benign |
Het |
| Fbh1 |
T |
A |
2: 11,769,041 (GRCm39) |
I251F |
probably damaging |
Het |
| Fbxo6 |
A |
T |
4: 148,233,948 (GRCm39) |
S49R |
probably damaging |
Het |
| Gm17093 |
A |
T |
14: 44,756,779 (GRCm39) |
Q82L |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,348,067 (GRCm39) |
|
probably null |
Het |
| Hspa4l |
C |
A |
3: 40,700,081 (GRCm39) |
|
probably benign |
Het |
| Il3ra |
G |
A |
14: 14,351,080 (GRCm38) |
A201T |
probably benign |
Het |
| Irx5 |
T |
A |
8: 93,087,409 (GRCm39) |
V447E |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,410,697 (GRCm39) |
L668F |
probably damaging |
Het |
| Lag3 |
T |
A |
6: 124,881,416 (GRCm39) |
R519W |
unknown |
Het |
| Lgr4 |
A |
G |
2: 109,842,283 (GRCm39) |
N756S |
probably damaging |
Het |
| Lingo4 |
A |
G |
3: 94,309,848 (GRCm39) |
H262R |
probably benign |
Het |
| Lingo4 |
T |
A |
3: 94,310,308 (GRCm39) |
H415Q |
probably benign |
Het |
| Lkaaear1 |
C |
A |
2: 181,339,376 (GRCm39) |
G25* |
probably null |
Het |
| Maco1 |
A |
G |
4: 134,555,610 (GRCm39) |
Y288H |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,932,095 (GRCm39) |
K1641E |
probably benign |
Het |
| Mtfmt |
T |
C |
9: 65,351,133 (GRCm39) |
|
probably benign |
Het |
| Mtif3 |
G |
A |
5: 146,893,598 (GRCm39) |
T203M |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,407,430 (GRCm39) |
I2740T |
probably benign |
Het |
| Nrdc |
A |
G |
4: 108,903,809 (GRCm39) |
T720A |
probably benign |
Het |
| Or2d2 |
T |
C |
7: 106,728,271 (GRCm39) |
T110A |
probably benign |
Het |
| Peak1 |
T |
A |
9: 56,148,560 (GRCm39) |
D32V |
possibly damaging |
Het |
| Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
| Plekhg3 |
A |
G |
12: 76,612,311 (GRCm39) |
R391G |
possibly damaging |
Het |
| Ppfia3 |
T |
C |
7: 44,990,542 (GRCm39) |
D919G |
probably damaging |
Het |
| Pramel23 |
T |
A |
4: 143,424,939 (GRCm39) |
Q168L |
possibly damaging |
Het |
| Rnase2b |
T |
A |
14: 51,400,208 (GRCm39) |
D96E |
possibly damaging |
Het |
| Rsf1 |
CGGCGGC |
CGGCGGCCGCGGCGGC |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Serpina3f |
A |
G |
12: 104,186,615 (GRCm39) |
T394A |
probably benign |
Het |
| Six3 |
A |
G |
17: 85,928,720 (GRCm39) |
N18S |
possibly damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,825,285 (GRCm39) |
|
probably null |
Het |
| Slc35f6 |
A |
G |
5: 30,805,427 (GRCm39) |
N21S |
probably damaging |
Het |
| Slc39a6 |
A |
T |
18: 24,729,351 (GRCm39) |
I454N |
probably damaging |
Het |
| Slc40a1 |
T |
A |
1: 45,948,824 (GRCm39) |
E485D |
probably damaging |
Het |
| Sort1 |
G |
A |
3: 108,235,385 (GRCm39) |
C255Y |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,785,771 (GRCm39) |
T624S |
probably benign |
Het |
| Stk33 |
T |
A |
7: 108,939,605 (GRCm39) |
I99L |
probably benign |
Het |
| Taf4b |
T |
A |
18: 15,031,100 (GRCm39) |
I828N |
probably damaging |
Het |
| Terf2 |
T |
C |
8: 107,803,110 (GRCm39) |
|
probably benign |
Het |
| Timd4 |
C |
T |
11: 46,706,344 (GRCm39) |
R49C |
probably damaging |
Het |
| Tpte |
T |
C |
8: 22,808,362 (GRCm39) |
S166P |
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,264,052 (GRCm39) |
L13P |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,975,476 (GRCm39) |
Y247* |
probably null |
Het |
| Trnt1 |
C |
T |
6: 106,755,853 (GRCm39) |
Q303* |
probably null |
Het |
| Tspyl5 |
T |
A |
15: 33,687,201 (GRCm39) |
Q248L |
possibly damaging |
Het |
| Ubxn7 |
A |
T |
16: 32,200,322 (GRCm39) |
K337N |
probably damaging |
Het |
| Unc13a |
T |
A |
8: 72,095,816 (GRCm39) |
I1234F |
probably benign |
Het |
| Vmn1r127 |
A |
T |
7: 21,052,943 (GRCm39) |
F282I |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,506,111 (GRCm39) |
|
probably null |
Het |
| Zfp605 |
A |
G |
5: 110,275,352 (GRCm39) |
K157E |
probably damaging |
Het |
| Zhx2 |
T |
A |
15: 57,684,755 (GRCm39) |
D41E |
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 |
|
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'- GGTTTAAGTCCTCCCACACAC -3'
(R):5'- GCGTCAGTTGTTATCCGCTC -3'
Sequencing Primer
(F):5'- ACCCCTCACTCCAGGTCC -3'
(R):5'- TCTAGGGTCGCCGAGAGAC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation