Incidental Mutation 'R9753:Fbrsl1'
| ID |
732627 |
| 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 # |
R9753 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
110509617-110596369 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110526835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 2
(F2L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056124]
[ENSMUST00000069483]
[ENSMUST00000196801]
[ENSMUST00000198768]
[ENSMUST00000198834]
|
| AlphaFold |
E9Q9T0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000056124
AA Change: F2L
|
| SMART Domains |
Protein: ENSMUSP00000054613
Gene: ENSMUSG00000043323
AA Change: F2L
| 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 |
possibly damaging
Transcript: ENSMUST00000069483
AA Change: F393L
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000063879
Gene: ENSMUSG00000043323
AA Change: F393L
| 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
AA Change: F393L
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142625
Gene: ENSMUSG00000043323
AA Change: F393L
| 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
AA Change: F230L
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142379
Gene: ENSMUSG00000043323
AA Change: F230L
| 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 |
unknown
Transcript: ENSMUST00000198834
AA Change: F2L
|
| SMART Domains |
Protein: ENSMUSP00000143147
Gene: ENSMUSG00000043323
AA Change: F2L
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
G |
A |
10: 41,259,496 (GRCm39) |
V843I |
|
Het |
| Bbs12 |
T |
C |
3: 37,373,680 (GRCm39) |
C43R |
possibly damaging |
Het |
| Brwd1 |
T |
C |
16: 95,825,028 (GRCm39) |
E1145G |
probably damaging |
Het |
| C2cd4c |
A |
C |
10: 79,448,067 (GRCm39) |
I360S |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,417,539 (GRCm39) |
N599S |
probably damaging |
Het |
| Cd79b |
A |
G |
11: 106,203,457 (GRCm39) |
|
probably null |
Het |
| Ces2c |
A |
G |
8: 105,580,249 (GRCm39) |
M489V |
probably benign |
Het |
| Clip4 |
A |
G |
17: 72,106,068 (GRCm39) |
N84D |
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,191,320 (GRCm39) |
D1047G |
possibly damaging |
Het |
| Cyp2c69 |
C |
T |
19: 39,865,991 (GRCm39) |
V201M |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,223,673 (GRCm39) |
S1154P |
possibly damaging |
Het |
| Elk4 |
T |
G |
1: 131,945,881 (GRCm39) |
V253G |
probably benign |
Het |
| Erbb4 |
T |
A |
1: 68,238,062 (GRCm39) |
H809L |
probably benign |
Het |
| Ext1 |
A |
T |
15: 53,208,067 (GRCm39) |
D231E |
probably damaging |
Het |
| Fam221b |
T |
C |
4: 43,665,574 (GRCm39) |
K295E |
probably benign |
Het |
| Fnip2 |
C |
T |
3: 79,415,411 (GRCm39) |
R209H |
probably benign |
Het |
| Gart |
C |
T |
16: 91,430,949 (GRCm39) |
G371D |
probably damaging |
Het |
| Gata6 |
T |
A |
18: 11,064,706 (GRCm39) |
V506D |
possibly damaging |
Het |
| Gba2 |
T |
C |
4: 43,568,716 (GRCm39) |
Y620C |
probably damaging |
Het |
| Gprc6a |
T |
C |
10: 51,504,364 (GRCm39) |
N160S |
probably benign |
Het |
| Gstm3 |
A |
G |
3: 107,875,493 (GRCm39) |
W46R |
probably damaging |
Het |
| Hcn4 |
G |
A |
9: 58,751,319 (GRCm39) |
R315H |
unknown |
Het |
| Hydin |
T |
C |
8: 111,217,398 (GRCm39) |
F1429L |
possibly damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Itgb1bp1 |
A |
G |
12: 21,326,890 (GRCm39) |
S28P |
unknown |
Het |
| Krt10 |
A |
G |
11: 99,279,792 (GRCm39) |
F123L |
unknown |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Lingo4 |
C |
T |
3: 94,309,493 (GRCm39) |
R144* |
probably null |
Het |
| Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
| Nrsn1 |
C |
A |
13: 25,437,563 (GRCm39) |
V122L |
probably benign |
Het |
| Or10h5 |
C |
A |
17: 33,434,688 (GRCm39) |
G210V |
possibly damaging |
Het |
| Or2r2 |
T |
C |
6: 42,463,507 (GRCm39) |
M207V |
probably benign |
Het |
| Or4d6 |
T |
A |
19: 12,086,056 (GRCm39) |
M59L |
probably benign |
Het |
| Pcgf6 |
T |
C |
19: 47,023,073 (GRCm39) |
T353A |
probably damaging |
Het |
| Pcsk2 |
T |
C |
2: 143,635,150 (GRCm39) |
Y342H |
probably damaging |
Het |
| Pou2af1 |
A |
T |
9: 51,149,636 (GRCm39) |
N243Y |
possibly damaging |
Het |
| Prkcz |
T |
C |
4: 155,377,659 (GRCm39) |
D197G |
probably benign |
Het |
| Sec14l4 |
G |
A |
11: 3,989,982 (GRCm39) |
E94K |
probably benign |
Het |
| Sik2 |
T |
C |
9: 50,807,139 (GRCm39) |
E757G |
probably damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,463,763 (GRCm39) |
S1154T |
possibly damaging |
Het |
| Speer1k |
A |
T |
5: 10,999,020 (GRCm39) |
T53S |
|
Het |
| Ssb |
T |
C |
2: 69,697,865 (GRCm39) |
Y175H |
probably damaging |
Het |
| St6galnac6 |
T |
C |
2: 32,502,261 (GRCm39) |
I50T |
probably benign |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tmcc1 |
G |
C |
6: 115,999,071 (GRCm39) |
R323G |
possibly damaging |
Het |
| Unc13b |
C |
T |
4: 43,182,842 (GRCm39) |
R396* |
probably null |
Het |
| Vezt |
A |
G |
10: 93,806,183 (GRCm39) |
S743P |
probably benign |
Het |
| Vmn1r77 |
A |
C |
7: 11,775,659 (GRCm39) |
N145T |
probably damaging |
Het |
| Vmn2r98 |
A |
C |
17: 19,285,665 (GRCm39) |
T162P |
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 |
|
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 |
|
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'- GAGGGATGTACAGAATCCTCG -3'
(R):5'- GGATGCCACTGAACCCTATGTC -3'
Sequencing Primer
(F):5'- GGATGTACAGAATCCTCGAAGATCC -3'
(R):5'- TGAACCCTATGTCCTACAGCAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation