Incidental Mutation 'R6234:Fbrsl1'
ID |
504814 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbrsl1
|
Ensembl Gene |
ENSMUSG00000043323 |
Gene Name |
fibrosin-like 1 |
Synonyms |
LOC381668, 2410025L10Rik, Gm29766 |
MMRRC Submission |
044399-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R6234 (G1)
|
Quality Score |
95.0077 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
110509617-110596369 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 110525917 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 95
(T95I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056124]
[ENSMUST00000069483]
[ENSMUST00000196801]
[ENSMUST00000198768]
[ENSMUST00000198834]
|
AlphaFold |
E9Q9T0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056124
AA Change: T95I
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000054613 Gene: ENSMUSG00000043323 AA Change: T95I
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: T509I
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000063879 Gene: ENSMUSG00000043323 AA Change: T509I
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: T95I
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000143147 Gene: ENSMUSG00000043323 AA Change: T95I
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
G |
8: 44,078,949 (GRCm39) |
N425T |
probably benign |
Het |
Adgb |
A |
C |
10: 10,228,824 (GRCm39) |
|
probably null |
Het |
Aldoart1 |
A |
G |
4: 72,770,409 (GRCm39) |
I78T |
probably damaging |
Het |
Bcl2l2 |
A |
G |
14: 55,122,245 (GRCm39) |
D136G |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,037,620 (GRCm39) |
T2475A |
probably benign |
Het |
Cd34 |
A |
T |
1: 194,630,308 (GRCm39) |
I81F |
probably damaging |
Het |
Chmp1b |
T |
A |
18: 67,339,169 (GRCm39) |
*200R |
probably null |
Het |
Clic6 |
T |
C |
16: 92,296,110 (GRCm39) |
S257P |
probably benign |
Het |
Cnga4 |
T |
G |
7: 105,056,906 (GRCm39) |
Y336* |
probably null |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Eef1akmt2 |
T |
C |
7: 132,429,585 (GRCm39) |
T215A |
probably damaging |
Het |
Fer1l6 |
T |
C |
15: 58,432,488 (GRCm39) |
I345T |
probably damaging |
Het |
Fmn1 |
T |
C |
2: 113,196,000 (GRCm39) |
F567L |
unknown |
Het |
Ftdc1 |
T |
A |
16: 58,435,034 (GRCm39) |
D97V |
probably benign |
Het |
Gabrg1 |
A |
T |
5: 70,999,484 (GRCm39) |
L22I |
probably benign |
Het |
Gfm1 |
A |
G |
3: 67,342,847 (GRCm39) |
D127G |
probably damaging |
Het |
Gm5114 |
T |
A |
7: 39,058,768 (GRCm39) |
T284S |
probably benign |
Het |
Gm9925 |
A |
T |
18: 74,198,308 (GRCm39) |
|
probably benign |
Het |
Hc |
T |
C |
2: 34,918,058 (GRCm39) |
I742V |
probably benign |
Het |
Heatr5a |
A |
T |
12: 51,924,237 (GRCm39) |
M1992K |
possibly damaging |
Het |
Homer3 |
T |
C |
8: 70,743,815 (GRCm39) |
|
probably null |
Het |
Hsf5 |
C |
G |
11: 87,508,120 (GRCm39) |
T8S |
probably benign |
Het |
Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
Il21r |
A |
G |
7: 125,231,757 (GRCm39) |
D395G |
probably damaging |
Het |
Kctd14 |
T |
A |
7: 97,107,219 (GRCm39) |
V190E |
probably damaging |
Het |
Mamdc4 |
C |
G |
2: 25,460,092 (GRCm39) |
G57A |
probably damaging |
Het |
Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
Mroh2a |
T |
C |
1: 88,184,476 (GRCm39) |
V1453A |
probably benign |
Het |
Mtch1 |
A |
T |
17: 29,559,485 (GRCm39) |
|
probably null |
Het |
Nasp |
G |
A |
4: 116,479,979 (GRCm39) |
A31V |
possibly damaging |
Het |
Neil3 |
G |
T |
8: 54,061,774 (GRCm39) |
D202E |
probably damaging |
Het |
Nfkb1 |
C |
T |
3: 135,332,471 (GRCm39) |
V95I |
possibly damaging |
Het |
Ptpra |
T |
A |
2: 130,379,508 (GRCm39) |
M327K |
probably damaging |
Het |
Ptprg |
C |
A |
14: 12,213,747 (GRCm38) |
F263L |
probably damaging |
Het |
Sap30 |
A |
G |
8: 57,938,152 (GRCm39) |
V155A |
probably damaging |
Het |
Serpinb2 |
G |
A |
1: 107,452,501 (GRCm39) |
V360M |
probably damaging |
Het |
Stradb |
A |
G |
1: 59,027,707 (GRCm39) |
H79R |
probably damaging |
Het |
Svep1 |
A |
T |
4: 58,113,458 (GRCm39) |
|
probably null |
Het |
Tcaf2 |
A |
T |
6: 42,607,308 (GRCm39) |
H215Q |
probably benign |
Het |
Tdrd5 |
A |
T |
1: 156,120,947 (GRCm39) |
S227T |
possibly damaging |
Het |
Timmdc1 |
A |
T |
16: 38,338,861 (GRCm39) |
Y76* |
probably null |
Het |
Tmbim4 |
T |
A |
10: 120,057,628 (GRCm39) |
|
probably null |
Het |
Tpr |
A |
G |
1: 150,293,790 (GRCm39) |
K854R |
probably benign |
Het |
Trav6-5 |
A |
G |
14: 53,728,832 (GRCm39) |
T30A |
probably benign |
Het |
Trrap |
T |
A |
5: 144,776,523 (GRCm39) |
|
probably null |
Het |
Ube2o |
A |
T |
11: 116,430,316 (GRCm39) |
S1141T |
probably benign |
Het |
Usp54 |
T |
A |
14: 20,633,518 (GRCm39) |
K339I |
probably damaging |
Het |
Vwf |
T |
G |
6: 125,634,128 (GRCm39) |
V202G |
unknown |
Het |
Wdr7 |
T |
C |
18: 63,857,203 (GRCm39) |
L93P |
probably damaging |
Het |
Zfp871 |
CCACAC |
CC |
17: 32,994,494 (GRCm39) |
|
probably null |
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 |
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'- AAGACTGAGCACTGCTGCAG -3'
(R):5'- AGCTGAACACGCGGTTTCTG -3'
Sequencing Primer
(F):5'- AGCACTGCTGCAGCTAGC -3'
(R):5'- TTCTGGTGCAGAACGCG -3'
|
Posted On |
2018-02-28 |