Incidental Mutation 'R9234:Fbrsl1'
| ID |
700968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbrsl1
|
| Ensembl Gene |
ENSMUSG00000043323 |
| Gene Name |
fibrosin-like 1 |
| Synonyms |
LOC381668, 2410025L10Rik, Gm29766 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R9234 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
110509617-110596369 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 110511250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 504
(F504L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056124]
[ENSMUST00000069483]
[ENSMUST00000196801]
[ENSMUST00000198834]
|
| AlphaFold |
E9Q9T0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056124
AA Change: F480L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000054613
Gene: ENSMUSG00000043323
AA Change: F480L
| 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 benign
Transcript: ENSMUST00000069483
AA Change: F918L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000063879
Gene: ENSMUSG00000043323
AA Change: F918L
| 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 benign
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 |
probably benign
Transcript: ENSMUST00000198834
AA Change: F504L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000143147
Gene: ENSMUSG00000043323
AA Change: F504L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
A |
G |
2: 155,845,798 (GRCm39) |
Y20H |
probably benign |
Het |
| Arid5b |
A |
G |
10: 67,964,628 (GRCm39) |
F348L |
possibly damaging |
Het |
| Bms1 |
C |
A |
6: 118,375,044 (GRCm39) |
A777S |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,049,012 (GRCm39) |
Y61C |
|
Het |
| Caprin2 |
A |
T |
6: 148,744,337 (GRCm39) |
Y1029* |
probably null |
Het |
| Casp1 |
A |
T |
9: 5,303,128 (GRCm39) |
D194V |
probably benign |
Het |
| Crkl |
A |
G |
16: 17,286,822 (GRCm39) |
E126G |
probably damaging |
Het |
| Crp |
A |
T |
1: 172,526,413 (GRCm39) |
D166V |
probably damaging |
Het |
| Dnah10 |
A |
C |
5: 124,818,989 (GRCm39) |
D425A |
possibly damaging |
Het |
| Dnah11 |
A |
T |
12: 117,951,095 (GRCm39) |
L3071Q |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,924,751 (GRCm39) |
I2168F |
possibly damaging |
Het |
| Elp3 |
T |
A |
14: 65,788,920 (GRCm39) |
I388F |
probably damaging |
Het |
| Espn |
C |
A |
4: 152,217,380 (GRCm39) |
|
probably null |
Het |
| Fzd9 |
A |
C |
5: 135,279,540 (GRCm39) |
M115R |
probably damaging |
Het |
| Git2 |
A |
T |
5: 114,899,682 (GRCm39) |
Y224N |
possibly damaging |
Het |
| Gm9195 |
A |
T |
14: 72,695,786 (GRCm39) |
Y1415* |
probably null |
Het |
| Gnpat |
T |
A |
8: 125,610,179 (GRCm39) |
L454Q |
probably damaging |
Het |
| Grm5 |
C |
T |
7: 87,723,440 (GRCm39) |
P577S |
probably damaging |
Het |
| Hfm1 |
T |
C |
5: 107,041,334 (GRCm39) |
N683S |
probably benign |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Leng8 |
C |
A |
7: 4,145,247 (GRCm39) |
P216T |
probably damaging |
Het |
| Letm2 |
C |
A |
8: 26,084,102 (GRCm39) |
R43L |
probably benign |
Het |
| Lims2 |
A |
T |
18: 32,090,943 (GRCm39) |
Y309F |
probably benign |
Het |
| Llgl1 |
T |
C |
11: 60,600,956 (GRCm39) |
|
probably null |
Het |
| Ltn1 |
A |
T |
16: 87,194,089 (GRCm39) |
D1417E |
probably damaging |
Het |
| Map4k4 |
T |
A |
1: 40,029,261 (GRCm39) |
N345K |
unknown |
Het |
| Mapre2 |
T |
C |
18: 23,937,236 (GRCm39) |
I26T |
probably benign |
Het |
| Nfe2 |
A |
G |
15: 103,159,636 (GRCm39) |
|
probably benign |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,695,622 (GRCm39) |
|
probably null |
Het |
| Or51b6b |
T |
A |
7: 103,309,950 (GRCm39) |
Y169F |
possibly damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,651 (GRCm39) |
F96S |
probably damaging |
Het |
| Or5h19 |
T |
C |
16: 58,856,789 (GRCm39) |
N104D |
probably benign |
Het |
| Otud7b |
G |
T |
3: 96,047,771 (GRCm39) |
Q43H |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,453,695 (GRCm39) |
V25A |
probably benign |
Het |
| Pcolce2 |
A |
G |
9: 95,560,439 (GRCm39) |
T163A |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,324,262 (GRCm39) |
V39E |
possibly damaging |
Het |
| Pdgfrb |
T |
A |
18: 61,194,300 (GRCm39) |
W26R |
probably null |
Het |
| Pigp |
T |
A |
16: 94,165,522 (GRCm39) |
*206Y |
probably null |
Het |
| Pip5kl1 |
G |
T |
2: 32,468,211 (GRCm39) |
G126C |
probably benign |
Het |
| Plekhg2 |
G |
T |
7: 28,064,215 (GRCm39) |
T442K |
probably benign |
Het |
| Prmt5 |
A |
T |
14: 54,748,674 (GRCm39) |
S375T |
possibly damaging |
Het |
| Rnf213 |
T |
A |
11: 119,340,943 (GRCm39) |
M3529K |
|
Het |
| Ror2 |
C |
A |
13: 53,265,374 (GRCm39) |
D573Y |
probably damaging |
Het |
| Shank1 |
A |
G |
7: 43,962,579 (GRCm39) |
T98A |
unknown |
Het |
| Shcbp1 |
A |
T |
8: 4,798,800 (GRCm39) |
I373K |
possibly damaging |
Het |
| Slc25a42 |
A |
G |
8: 70,642,736 (GRCm39) |
S64P |
probably damaging |
Het |
| Smco3 |
T |
A |
6: 136,808,410 (GRCm39) |
I155F |
probably damaging |
Het |
| Snx4 |
C |
A |
16: 33,087,161 (GRCm39) |
S102* |
probably null |
Het |
| Snx4 |
T |
A |
16: 33,108,069 (GRCm39) |
S288T |
probably benign |
Het |
| Socs4 |
A |
G |
14: 47,527,716 (GRCm39) |
N217S |
probably benign |
Het |
| Tatdn2 |
G |
A |
6: 113,679,683 (GRCm39) |
|
probably null |
Het |
| Tmprss2 |
A |
G |
16: 97,379,821 (GRCm39) |
Y160H |
probably damaging |
Het |
| Trim37 |
T |
C |
11: 87,036,393 (GRCm39) |
I158T |
possibly damaging |
Het |
| Trip11 |
C |
T |
12: 101,811,990 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
G |
A |
2: 69,727,990 (GRCm39) |
A118T |
probably benign |
Het |
| Ubxn7 |
T |
C |
16: 32,178,895 (GRCm39) |
|
probably null |
Het |
| Unc5cl |
C |
T |
17: 48,770,658 (GRCm39) |
H369Y |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,250,877 (GRCm39) |
N263K |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,907 (GRCm39) |
I636T |
possibly damaging |
Het |
| Vps13d |
G |
T |
4: 144,875,792 (GRCm39) |
Q1578K |
|
Het |
| Wnk2 |
T |
C |
13: 49,224,274 (GRCm39) |
D1171G |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,966,470 (GRCm39) |
Y985C |
probably damaging |
Het |
| Zpbp2 |
A |
T |
11: 98,443,398 (GRCm39) |
N77I |
probably 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 |
|
|
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 |
|
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 |
|
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'- GAATTTAAGTGAGCCAGCTCG -3'
(R):5'- TCACCTAGCAAAGAGGATGGC -3'
Sequencing Primer
(F):5'- AGCGTCGTCCTGGGATG -3'
(R):5'- TCCGTCACCCTACTGCAAGG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation