Incidental Mutation 'R0336:Fbrsl1'
| ID |
216060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbrsl1
|
| Ensembl Gene |
ENSMUSG00000043323 |
| Gene Name |
fibrosin-like 1 |
| Synonyms |
LOC381668, 2410025L10Rik, Gm29766 |
| MMRRC Submission |
038545-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R0336 (G1)
|
| Quality Score |
53 |
|
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: 99.5%
- 3x: 99.0%
- 10x: 98.1%
- 20x: 97.1%
|
| Validation Efficiency |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,248,481 (GRCm39) |
I2743V |
probably benign |
Het |
| Adamts16 |
A |
G |
13: 70,939,913 (GRCm39) |
|
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,458,998 (GRCm39) |
I427V |
probably benign |
Het |
| Arhgef1 |
T |
A |
7: 24,621,382 (GRCm39) |
F510I |
possibly damaging |
Het |
| B3glct |
A |
G |
5: 149,670,057 (GRCm39) |
D342G |
probably damaging |
Het |
| Bcl2a1c |
G |
T |
9: 114,159,353 (GRCm39) |
V44F |
probably damaging |
Het |
| Brca1 |
A |
G |
11: 101,414,819 (GRCm39) |
V1105A |
probably benign |
Het |
| Ccn5 |
C |
A |
2: 163,674,242 (GRCm39) |
A214D |
probably damaging |
Het |
| Cep135 |
A |
G |
5: 76,749,349 (GRCm39) |
H272R |
probably benign |
Het |
| Coa8 |
T |
C |
12: 111,700,092 (GRCm39) |
|
probably benign |
Het |
| Cog1 |
A |
C |
11: 113,553,076 (GRCm39) |
H365P |
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,609,627 (GRCm39) |
L293Q |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,894,570 (GRCm39) |
L1493P |
probably damaging |
Het |
| Ctsh |
A |
G |
9: 89,957,791 (GRCm39) |
Y290C |
probably damaging |
Het |
| Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
| Defb39 |
G |
T |
8: 19,102,985 (GRCm39) |
H37N |
possibly damaging |
Het |
| Epha3 |
A |
G |
16: 63,387,011 (GRCm39) |
I875T |
probably damaging |
Het |
| Fga |
T |
C |
3: 82,938,164 (GRCm39) |
S180P |
probably damaging |
Het |
| Fndc1 |
C |
T |
17: 7,983,939 (GRCm39) |
R1329Q |
unknown |
Het |
| Fyn |
C |
A |
10: 39,402,897 (GRCm39) |
T223K |
possibly damaging |
Het |
| Galnt6 |
A |
T |
15: 100,597,087 (GRCm39) |
S360T |
probably damaging |
Het |
| Grsf1 |
C |
A |
5: 88,811,012 (GRCm39) |
V336F |
probably damaging |
Het |
| Hip1 |
A |
T |
5: 135,457,467 (GRCm39) |
Y720N |
probably benign |
Het |
| Hivep3 |
G |
A |
4: 119,961,044 (GRCm39) |
E1700K |
probably damaging |
Het |
| Ifna6 |
T |
C |
4: 88,746,178 (GRCm39) |
S176P |
probably damaging |
Het |
| Lilrb4b |
T |
A |
10: 51,357,389 (GRCm39) |
L75Q |
probably benign |
Het |
| Lrig3 |
C |
T |
10: 125,802,574 (GRCm39) |
T77I |
probably benign |
Het |
| Mpped1 |
C |
T |
15: 83,720,483 (GRCm39) |
P135L |
probably damaging |
Het |
| Mss51 |
T |
A |
14: 20,533,254 (GRCm39) |
I406F |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,155,040 (GRCm39) |
N956D |
probably damaging |
Het |
| Or4a27 |
T |
C |
2: 88,559,498 (GRCm39) |
I148M |
possibly damaging |
Het |
| Podxl2 |
G |
A |
6: 88,826,577 (GRCm39) |
T243I |
probably benign |
Het |
| Polr2a |
C |
T |
11: 69,627,719 (GRCm39) |
R1396Q |
possibly damaging |
Het |
| Pramel51 |
T |
C |
12: 88,144,961 (GRCm39) |
I122V |
probably benign |
Het |
| Pygm |
C |
T |
19: 6,438,788 (GRCm39) |
R205W |
probably damaging |
Het |
| Rfx3 |
A |
G |
19: 27,783,662 (GRCm39) |
M428T |
probably benign |
Het |
| Ric1 |
A |
T |
19: 29,565,193 (GRCm39) |
T647S |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,806,234 (GRCm39) |
|
probably null |
Het |
| Rnf38 |
A |
T |
4: 44,152,350 (GRCm39) |
|
probably benign |
Het |
| Slc6a21 |
T |
A |
7: 44,935,892 (GRCm39) |
I41K |
probably damaging |
Het |
| St8sia4 |
T |
A |
1: 95,581,283 (GRCm39) |
D153V |
probably benign |
Het |
| Stk33 |
T |
C |
7: 108,930,681 (GRCm39) |
N226S |
probably benign |
Het |
| Strn3 |
A |
G |
12: 51,708,391 (GRCm39) |
|
probably null |
Het |
| Tlr6 |
G |
T |
5: 65,111,289 (GRCm39) |
N539K |
probably benign |
Het |
| Tmem129 |
G |
T |
5: 33,812,946 (GRCm39) |
P134Q |
probably damaging |
Het |
| Tmem94 |
A |
G |
11: 115,678,211 (GRCm39) |
I145V |
probably benign |
Het |
| Trap1 |
A |
C |
16: 3,862,490 (GRCm39) |
V596G |
probably damaging |
Het |
| Tspan2 |
A |
G |
3: 102,642,343 (GRCm39) |
I11V |
probably null |
Het |
| Ttc23 |
A |
T |
7: 67,312,231 (GRCm39) |
H46L |
probably benign |
Het |
| Txnip |
T |
A |
3: 96,467,295 (GRCm39) |
D292E |
probably benign |
Het |
| Vmn1r121 |
T |
A |
7: 20,832,387 (GRCm39) |
I18F |
possibly damaging |
Het |
| Vmn1r61 |
G |
A |
7: 5,614,066 (GRCm39) |
H83Y |
probably benign |
Het |
| Vmn1r82 |
T |
C |
7: 12,039,248 (GRCm39) |
S174P |
probably benign |
Het |
| Vmn2r79 |
A |
C |
7: 86,651,287 (GRCm39) |
T229P |
probably benign |
Het |
| Vps13b |
T |
G |
15: 35,455,279 (GRCm39) |
Y729* |
probably null |
Het |
| Xdh |
C |
T |
17: 74,229,458 (GRCm39) |
V332M |
possibly damaging |
Het |
| Xkr5 |
C |
A |
8: 18,990,652 (GRCm39) |
R205L |
possibly damaging |
Het |
| Zc3h4 |
T |
C |
7: 16,169,103 (GRCm39) |
S1071P |
unknown |
Het |
| Zc3h6 |
A |
G |
2: 128,857,332 (GRCm39) |
H617R |
possibly damaging |
Het |
| Zfp597 |
A |
G |
16: 3,684,243 (GRCm39) |
V171A |
probably benign |
Het |
| Zfp709 |
T |
C |
8: 72,644,449 (GRCm39) |
F626S |
probably damaging |
Het |
| Zfp944 |
C |
A |
17: 22,558,009 (GRCm39) |
D413Y |
probably damaging |
Het |
| Zfp979 |
A |
C |
4: 147,697,592 (GRCm39) |
S372R |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCCTCTTCCTGGCAAGGTTG -3'
(R):5'- GTCGCTGCCACTACTGTGTCTG -3'
Sequencing Primer
(F):5'- GAGGCATACGTATGCGTTTC -3'
(R):5'- TCTAGGGTCGCCGAGAGAC -3'
|
| Posted On |
2014-07-18 |
Incidental Mutation