Incidental Mutation 'IGL01413:Fbrsl1'
ID |
80158 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fbrsl1
|
Ensembl Gene |
ENSMUSG00000043323 |
Gene Name |
fibrosin-like 1 |
Synonyms |
LOC381668, 2410025L10Rik, Gm29766 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
IGL01413
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
110509617-110596369 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 110526114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 443
(E443D)
|
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
AA Change: E29D
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000054613 Gene: ENSMUSG00000043323 AA Change: E29D
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: E443D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000063879 Gene: ENSMUSG00000043323 AA Change: E443D
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: 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 |
possibly damaging
Transcript: ENSMUST00000198834
AA Change: E29D
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143147 Gene: ENSMUSG00000043323 AA Change: E29D
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa2 |
A |
T |
18: 74,939,015 (GRCm39) |
|
probably benign |
Het |
Adgrl1 |
T |
A |
8: 84,656,486 (GRCm39) |
I268N |
probably damaging |
Het |
Asic1 |
T |
A |
15: 99,569,998 (GRCm39) |
N106K |
probably damaging |
Het |
Ass1 |
A |
G |
2: 31,366,934 (GRCm39) |
Y11C |
probably damaging |
Het |
Cd44 |
T |
C |
2: 102,644,632 (GRCm39) |
E448G |
probably damaging |
Het |
Cdca2 |
A |
G |
14: 67,915,343 (GRCm39) |
S639P |
probably damaging |
Het |
Cfap221 |
T |
A |
1: 119,912,801 (GRCm39) |
H91L |
possibly damaging |
Het |
Cmtr1 |
T |
C |
17: 29,916,956 (GRCm39) |
S618P |
probably benign |
Het |
Cnga4 |
A |
T |
7: 105,054,169 (GRCm39) |
M46L |
probably benign |
Het |
Col4a4 |
C |
T |
1: 82,448,969 (GRCm39) |
G1207E |
unknown |
Het |
Cracdl |
G |
A |
1: 37,651,387 (GRCm39) |
A1160V |
possibly damaging |
Het |
Cthrc1 |
T |
A |
15: 38,943,894 (GRCm39) |
L58Q |
possibly damaging |
Het |
Cyb561a3 |
T |
A |
19: 10,562,610 (GRCm39) |
H83Q |
probably damaging |
Het |
Dlgap1 |
C |
A |
17: 70,823,069 (GRCm39) |
A18E |
probably benign |
Het |
Dnah2 |
G |
A |
11: 69,323,790 (GRCm39) |
L3707F |
probably damaging |
Het |
Dnai7 |
A |
T |
6: 145,120,812 (GRCm39) |
M669K |
probably damaging |
Het |
Duox1 |
A |
G |
2: 122,151,191 (GRCm39) |
N289D |
probably benign |
Het |
Fgfr1 |
T |
A |
8: 26,052,239 (GRCm39) |
C288* |
probably null |
Het |
Gabbr1 |
A |
G |
17: 37,373,598 (GRCm39) |
N498S |
possibly damaging |
Het |
Gja10 |
T |
C |
4: 32,602,070 (GRCm39) |
K105E |
probably damaging |
Het |
Glra4 |
C |
T |
X: 135,663,493 (GRCm39) |
R352H |
probably benign |
Het |
Gm19402 |
G |
T |
10: 77,526,323 (GRCm39) |
|
probably benign |
Het |
Hadha |
T |
A |
5: 30,346,025 (GRCm39) |
M200L |
probably benign |
Het |
Hoxc9 |
T |
A |
15: 102,892,432 (GRCm39) |
M215K |
probably damaging |
Het |
Huwe1 |
A |
T |
X: 150,665,676 (GRCm39) |
Q1231L |
possibly damaging |
Het |
Ifi214 |
T |
A |
1: 173,356,995 (GRCm39) |
N36I |
probably damaging |
Het |
Il17ra |
A |
G |
6: 120,452,542 (GRCm39) |
N242D |
probably benign |
Het |
Il1rl1 |
A |
T |
1: 40,485,329 (GRCm39) |
K260N |
possibly damaging |
Het |
Lhx6 |
C |
A |
2: 35,993,528 (GRCm39) |
A57S |
probably benign |
Het |
Mdh2 |
T |
A |
5: 135,814,879 (GRCm39) |
I116N |
probably damaging |
Het |
Met |
T |
C |
6: 17,558,895 (GRCm39) |
|
probably benign |
Het |
Mgam |
A |
G |
6: 40,638,211 (GRCm39) |
D387G |
probably damaging |
Het |
Myo3a |
T |
C |
2: 22,302,411 (GRCm39) |
S287P |
probably benign |
Het |
Nol8 |
T |
G |
13: 49,813,428 (GRCm39) |
N140K |
possibly damaging |
Het |
Nrap |
C |
A |
19: 56,377,823 (GRCm39) |
A56S |
probably damaging |
Het |
Nuggc |
A |
G |
14: 65,876,030 (GRCm39) |
T548A |
probably benign |
Het |
Or10j2 |
T |
A |
1: 173,098,275 (GRCm39) |
C178S |
probably damaging |
Het |
Or2i1 |
A |
T |
17: 37,508,554 (GRCm39) |
F102I |
possibly damaging |
Het |
Pcdh11x |
A |
G |
X: 119,309,282 (GRCm39) |
T242A |
probably benign |
Het |
Pcdhb8 |
A |
G |
18: 37,489,029 (GRCm39) |
N236D |
probably damaging |
Het |
Pdzph1 |
T |
C |
17: 59,186,147 (GRCm39) |
I1215V |
possibly damaging |
Het |
Plekha8 |
C |
T |
6: 54,599,261 (GRCm39) |
T265I |
probably benign |
Het |
Pou4f2 |
T |
A |
8: 79,161,734 (GRCm39) |
I290F |
probably damaging |
Het |
Pramel22 |
A |
T |
4: 143,381,887 (GRCm39) |
F270I |
probably benign |
Het |
Ptpn3 |
G |
A |
4: 57,270,156 (GRCm39) |
T2I |
probably damaging |
Het |
Rab28 |
A |
T |
5: 41,855,790 (GRCm39) |
D68E |
probably damaging |
Het |
Rbl1 |
T |
C |
2: 156,994,812 (GRCm39) |
|
probably null |
Het |
Samd4 |
A |
G |
14: 47,254,249 (GRCm39) |
T137A |
probably benign |
Het |
Serpinb1b |
T |
G |
13: 33,277,842 (GRCm39) |
D358E |
probably damaging |
Het |
Serpinb9c |
G |
A |
13: 33,335,787 (GRCm39) |
L222F |
probably damaging |
Het |
Slc24a3 |
A |
G |
2: 145,482,169 (GRCm39) |
D609G |
probably damaging |
Het |
Slc25a40 |
A |
C |
5: 8,503,298 (GRCm39) |
*338Y |
probably null |
Het |
Spef2 |
T |
A |
15: 9,676,376 (GRCm39) |
I732L |
probably benign |
Het |
Srrm2 |
T |
C |
17: 24,034,999 (GRCm39) |
|
probably benign |
Het |
Ssxb13 |
A |
G |
X: 8,615,692 (GRCm39) |
E75G |
probably benign |
Het |
Stmnd1 |
A |
T |
13: 46,453,157 (GRCm39) |
I278L |
probably benign |
Het |
Strap |
C |
A |
6: 137,722,502 (GRCm39) |
|
probably benign |
Het |
Supt16 |
C |
T |
14: 52,414,489 (GRCm39) |
E438K |
probably benign |
Het |
Tcf4 |
A |
C |
18: 69,788,090 (GRCm39) |
E160D |
probably damaging |
Het |
Themis3 |
A |
G |
17: 66,863,092 (GRCm39) |
Y289H |
probably benign |
Het |
Tmem87a |
T |
C |
2: 120,216,351 (GRCm39) |
T180A |
probably benign |
Het |
Trappc10 |
A |
G |
10: 78,033,678 (GRCm39) |
V963A |
possibly damaging |
Het |
Trav19 |
G |
T |
14: 54,083,072 (GRCm39) |
C49F |
probably damaging |
Het |
Trim30c |
A |
G |
7: 104,031,541 (GRCm39) |
S425P |
possibly damaging |
Het |
Ubap1 |
A |
T |
4: 41,387,333 (GRCm39) |
R414S |
probably benign |
Het |
Usp9x |
A |
G |
X: 13,017,579 (GRCm39) |
S1696G |
probably benign |
Het |
Vipas39 |
G |
A |
12: 87,296,171 (GRCm39) |
T274I |
probably benign |
Het |
Vmn1r185 |
A |
T |
7: 26,311,046 (GRCm39) |
V153E |
probably damaging |
Het |
Vmn2r124 |
A |
G |
17: 18,282,827 (GRCm39) |
T174A |
probably benign |
Het |
Wdr59 |
T |
A |
8: 112,227,706 (GRCm39) |
S124C |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,340,270 (GRCm39) |
D837V |
probably damaging |
Het |
Zfp185 |
A |
G |
X: 72,061,997 (GRCm39) |
D403G |
possibly damaging |
Het |
Zfp516 |
A |
T |
18: 83,005,795 (GRCm39) |
K900* |
probably null |
Het |
|
Other mutations in Fbrsl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2013-11-05 |