Incidental Mutation 'R4790:Flnb'
| ID |
368503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flnb
|
| Ensembl Gene |
ENSMUSG00000025278 |
| Gene Name |
filamin, beta |
| Synonyms |
|
| MMRRC Submission |
042418-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4790 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
14518185-14651816 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7905661 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1137
(V1137A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052678]
|
| AlphaFold |
Q80X90 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052678
AA Change: V1137A
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000052020
Gene: ENSMUSG00000025278
AA Change: V1137A
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
18 |
120 |
2.38e-26 |
SMART |
|
CH
|
141 |
237 |
1.83e-18 |
SMART |
|
IG_FLMN
|
253 |
350 |
1.17e-33 |
SMART |
|
IG_FLMN
|
353 |
449 |
2.08e-34 |
SMART |
|
IG_FLMN
|
451 |
546 |
3.42e-35 |
SMART |
|
IG_FLMN
|
548 |
639 |
6.06e-27 |
SMART |
|
IG_FLMN
|
644 |
739 |
1.94e-34 |
SMART |
|
IG_FLMN
|
741 |
842 |
4.25e-31 |
SMART |
|
IG_FLMN
|
844 |
941 |
5.16e-30 |
SMART |
|
IG_FLMN
|
943 |
1037 |
5.12e-25 |
SMART |
|
IG_FLMN
|
1039 |
1130 |
5.31e-41 |
SMART |
|
IG_FLMN
|
1132 |
1225 |
1.4e-31 |
SMART |
|
IG_FLMN
|
1227 |
1325 |
1.42e-32 |
SMART |
|
IG_FLMN
|
1327 |
1418 |
5.19e-35 |
SMART |
|
IG_FLMN
|
1420 |
1514 |
2.48e-41 |
SMART |
|
IG_FLMN
|
1516 |
1611 |
3.15e-34 |
SMART |
|
IG_FLMN
|
1613 |
1707 |
4.99e-37 |
SMART |
|
IG_FLMN
|
1730 |
1819 |
4.44e-11 |
SMART |
|
IG_FLMN
|
1820 |
1911 |
5.82e-38 |
SMART |
|
IG_FLMN
|
1914 |
1997 |
5.68e-9 |
SMART |
|
IG_FLMN
|
2001 |
2092 |
4.45e-34 |
SMART |
|
IG_FLMN
|
2101 |
2188 |
1.24e-9 |
SMART |
|
IG_FLMN
|
2192 |
2283 |
4.48e-39 |
SMART |
|
IG_FLMN
|
2286 |
2378 |
2.94e-25 |
SMART |
|
IG_FLMN
|
2383 |
2474 |
5.66e-27 |
SMART |
|
IG_FLMN
|
2511 |
2602 |
1.63e-27 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mutations in this gene cause skeletal defects including runting, premature mineralization, and bone fusion. Nullizygous mice show a delay and reduction in long bone growth. Truncation mutations cause early fusion of spinal vertebrae due to enhanced chondrocyte hypertrophy and early differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 118 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
G |
11: 110,202,236 (GRCm39) |
T390P |
possibly damaging |
Het |
| Acss3 |
A |
T |
10: 106,859,563 (GRCm39) |
Y345* |
probably null |
Het |
| Adam26b |
A |
T |
8: 43,973,764 (GRCm39) |
S413T |
probably benign |
Het |
| Angpt2 |
T |
A |
8: 18,764,098 (GRCm39) |
Q148L |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,823,981 (GRCm39) |
Y883* |
probably null |
Het |
| Ankrd52 |
A |
G |
10: 128,216,814 (GRCm39) |
K190E |
possibly damaging |
Het |
| Anks1b |
A |
G |
10: 89,999,137 (GRCm39) |
R415G |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,715,264 (GRCm39) |
Q58L |
probably benign |
Het |
| Aoc1l2 |
T |
A |
6: 48,907,486 (GRCm39) |
I162N |
probably damaging |
Het |
| Arhgap39 |
A |
T |
15: 76,610,931 (GRCm39) |
M924K |
possibly damaging |
Het |
| AU040320 |
A |
G |
4: 126,741,008 (GRCm39) |
M910V |
possibly damaging |
Het |
| BC051019 |
T |
A |
7: 109,315,553 (GRCm39) |
H86L |
probably benign |
Het |
| C1qbp |
G |
A |
11: 70,870,856 (GRCm39) |
Q151* |
probably null |
Het |
| C4b |
G |
T |
17: 34,953,117 (GRCm39) |
D1069E |
probably benign |
Het |
| Casp1 |
C |
T |
9: 5,303,020 (GRCm39) |
T158I |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,044,404 (GRCm39) |
D141G |
probably damaging |
Het |
| Ccdc33 |
T |
A |
9: 57,937,240 (GRCm39) |
E653V |
probably damaging |
Het |
| Cd180 |
C |
T |
13: 102,839,330 (GRCm39) |
T71M |
probably damaging |
Het |
| Cdk4 |
T |
C |
10: 126,900,570 (GRCm39) |
L112P |
probably damaging |
Het |
| Celf2 |
A |
G |
2: 6,554,714 (GRCm39) |
F425S |
probably damaging |
Het |
| Chrm3 |
A |
T |
13: 9,927,698 (GRCm39) |
V446E |
probably benign |
Het |
| Chst9 |
A |
T |
18: 15,586,107 (GRCm39) |
L152H |
probably damaging |
Het |
| Cib2 |
A |
G |
9: 54,457,087 (GRCm39) |
|
probably null |
Het |
| Clec18a |
T |
C |
8: 111,798,717 (GRCm39) |
S366G |
probably damaging |
Het |
| Crebbp |
A |
G |
16: 3,997,983 (GRCm39) |
F34L |
probably damaging |
Het |
| Dapk1 |
AT |
A |
13: 60,870,919 (GRCm39) |
|
probably null |
Het |
| Ddi1 |
T |
A |
9: 6,265,761 (GRCm39) |
M203L |
probably benign |
Het |
| Ddx20 |
G |
T |
3: 105,590,485 (GRCm39) |
S270R |
probably benign |
Het |
| Eddm13 |
A |
T |
7: 6,269,317 (GRCm39) |
K31* |
probably null |
Het |
| Espnl |
A |
T |
1: 91,272,146 (GRCm39) |
E458V |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,909,780 (GRCm39) |
D2074G |
probably damaging |
Het |
| Fcf1 |
A |
G |
12: 85,020,902 (GRCm39) |
T61A |
probably benign |
Het |
| Fkbp15 |
T |
C |
4: 62,226,234 (GRCm39) |
R772G |
probably benign |
Het |
| Fosb |
C |
A |
7: 19,043,313 (GRCm39) |
C15F |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,424,162 (GRCm39) |
W3092R |
probably benign |
Het |
| Gm3248 |
T |
C |
14: 5,945,831 (GRCm38) |
I28V |
probably damaging |
Het |
| Gm4922 |
G |
T |
10: 18,659,916 (GRCm39) |
L269I |
possibly damaging |
Het |
| Gucy2e |
G |
A |
11: 69,119,274 (GRCm39) |
R627W |
probably damaging |
Het |
| Hephl1 |
T |
A |
9: 14,970,467 (GRCm39) |
E1009V |
probably damaging |
Het |
| Hsf4 |
A |
T |
8: 105,997,237 (GRCm39) |
Q61L |
probably damaging |
Het |
| Itgam |
T |
A |
7: 127,715,445 (GRCm39) |
N1046K |
probably benign |
Het |
| Itgav |
G |
A |
2: 83,586,154 (GRCm39) |
C138Y |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,611,867 (GRCm39) |
Y157F |
probably damaging |
Het |
| Kcnt2 |
C |
T |
1: 140,282,254 (GRCm39) |
R80C |
probably damaging |
Het |
| Kdm4b |
G |
A |
17: 56,708,618 (GRCm39) |
V986M |
probably damaging |
Het |
| Lamb3 |
T |
A |
1: 193,022,194 (GRCm39) |
V1014D |
probably damaging |
Het |
| Lrrc74b |
G |
T |
16: 17,367,717 (GRCm39) |
N282K |
probably damaging |
Het |
| Map3k20 |
T |
A |
2: 72,272,048 (GRCm39) |
H725Q |
probably benign |
Het |
| Mink1 |
A |
G |
11: 70,489,867 (GRCm39) |
N81S |
probably damaging |
Het |
| Mmp21 |
A |
G |
7: 133,276,759 (GRCm39) |
Y415H |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,466,873 (GRCm39) |
W1297R |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,170,789 (GRCm39) |
M95T |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,133,158 (GRCm39) |
|
probably null |
Het |
| Nanog |
A |
G |
6: 122,684,874 (GRCm39) |
M20V |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,963,146 (GRCm39) |
I484V |
probably benign |
Het |
| Ndufa12 |
A |
T |
10: 94,056,620 (GRCm39) |
N116I |
probably benign |
Het |
| Nedd4l |
A |
G |
18: 65,337,016 (GRCm39) |
I668V |
possibly damaging |
Het |
| Nhsl3 |
C |
A |
4: 129,117,095 (GRCm39) |
R523L |
probably damaging |
Het |
| Nobox |
T |
C |
6: 43,282,480 (GRCm39) |
D309G |
probably benign |
Het |
| Npnt |
A |
G |
3: 132,596,523 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
C |
17: 90,762,477 (GRCm39) |
Y2D |
possibly damaging |
Het |
| Obox6 |
G |
T |
7: 15,568,502 (GRCm39) |
P125T |
possibly damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,633 (GRCm39) |
Y94C |
probably damaging |
Het |
| Or2ag15 |
C |
G |
7: 106,340,998 (GRCm39) |
V48L |
probably benign |
Het |
| Or4s2b |
T |
A |
2: 88,508,731 (GRCm39) |
N177K |
possibly damaging |
Het |
| Or56a3 |
T |
C |
7: 104,735,844 (GRCm39) |
|
probably benign |
Het |
| Or5ac20 |
A |
T |
16: 59,104,821 (GRCm39) |
V13D |
probably damaging |
Het |
| Or5an10 |
A |
G |
19: 12,276,305 (GRCm39) |
Y64H |
possibly damaging |
Het |
| Or8k32 |
T |
C |
2: 86,369,224 (GRCm39) |
T10A |
possibly damaging |
Het |
| Osm |
A |
T |
11: 4,188,435 (GRCm39) |
M21L |
probably benign |
Het |
| Otogl |
T |
A |
10: 107,657,894 (GRCm39) |
|
probably null |
Het |
| Otud4 |
T |
G |
8: 80,393,402 (GRCm39) |
S493A |
possibly damaging |
Het |
| Pars2 |
A |
G |
4: 106,508,308 (GRCm39) |
|
probably benign |
Het |
| Phlda3 |
T |
A |
1: 135,694,557 (GRCm39) |
V124E |
possibly damaging |
Het |
| Pias4 |
T |
C |
10: 80,993,326 (GRCm39) |
D199G |
probably damaging |
Het |
| Pm20d1 |
T |
C |
1: 131,739,777 (GRCm39) |
L375P |
probably benign |
Het |
| Pole2 |
T |
C |
12: 69,273,139 (GRCm39) |
I48V |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,538,050 (GRCm39) |
R527G |
unknown |
Het |
| Rasgrf2 |
G |
T |
13: 92,136,135 (GRCm39) |
N592K |
probably damaging |
Het |
| Rbm7 |
A |
G |
9: 48,406,474 (GRCm39) |
L26P |
probably damaging |
Het |
| Rhag |
A |
G |
17: 41,142,181 (GRCm39) |
H208R |
probably benign |
Het |
| Rnf17 |
A |
G |
14: 56,671,812 (GRCm39) |
E268G |
probably damaging |
Het |
| Rnf220 |
A |
G |
4: 117,146,252 (GRCm39) |
V23A |
probably benign |
Het |
| Rnf7 |
A |
T |
9: 96,360,472 (GRCm39) |
V55D |
probably damaging |
Het |
| Sdr9c7 |
C |
A |
10: 127,739,448 (GRCm39) |
R188S |
possibly damaging |
Het |
| Senp6 |
T |
A |
9: 79,997,140 (GRCm39) |
N51K |
probably benign |
Het |
| Skint3 |
C |
A |
4: 112,113,095 (GRCm39) |
T235K |
possibly damaging |
Het |
| Slc10a5 |
A |
G |
3: 10,400,096 (GRCm39) |
F188S |
probably damaging |
Het |
| Slc41a1 |
G |
A |
1: 131,758,690 (GRCm39) |
G111R |
probably damaging |
Het |
| Smarca1 |
T |
C |
X: 46,972,944 (GRCm39) |
D132G |
probably null |
Het |
| Snrnp48 |
C |
T |
13: 38,405,299 (GRCm39) |
R299W |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,437,705 (GRCm39) |
G1413D |
probably benign |
Het |
| Star |
T |
A |
8: 26,298,644 (GRCm39) |
H16Q |
probably damaging |
Het |
| Strc |
T |
C |
2: 121,206,075 (GRCm39) |
D779G |
probably benign |
Het |
| Sulf2 |
T |
C |
2: 165,931,215 (GRCm39) |
Y264C |
probably damaging |
Het |
| Supt7l |
A |
G |
5: 31,680,248 (GRCm39) |
S6P |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,067,165 (GRCm39) |
D4289G |
probably benign |
Het |
| Szrd1 |
A |
T |
4: 140,867,001 (GRCm39) |
|
probably null |
Het |
| Tada1 |
T |
C |
1: 166,219,523 (GRCm39) |
V275A |
possibly damaging |
Het |
| Tbr1 |
A |
T |
2: 61,641,932 (GRCm39) |
Y136F |
probably benign |
Het |
| Tbx20 |
T |
A |
9: 24,637,010 (GRCm39) |
H359L |
probably benign |
Het |
| Thbs4 |
G |
T |
13: 92,899,314 (GRCm39) |
D560E |
probably damaging |
Het |
| Tnfsf14 |
T |
C |
17: 57,497,740 (GRCm39) |
H164R |
probably damaging |
Het |
| Trmu |
T |
C |
15: 85,767,006 (GRCm39) |
S72P |
probably damaging |
Het |
| Tsnaxip1 |
C |
A |
8: 106,560,155 (GRCm39) |
Q36K |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,372,083 (GRCm39) |
M844K |
possibly damaging |
Het |
| Tubgcp2 |
T |
C |
7: 139,579,201 (GRCm39) |
Y695C |
probably damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,984,009 (GRCm39) |
M269K |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,566,443 (GRCm39) |
L1448* |
probably null |
Het |
| Vmn2r124 |
A |
T |
17: 18,269,855 (GRCm39) |
H37L |
probably damaging |
Het |
| Vmn2r44 |
T |
C |
7: 8,370,949 (GRCm39) |
N699S |
probably damaging |
Het |
| Vps35 |
A |
T |
8: 86,005,486 (GRCm39) |
|
probably null |
Het |
| Yipf1 |
G |
T |
4: 107,193,396 (GRCm39) |
|
probably null |
Het |
| Zfp395 |
A |
G |
14: 65,623,990 (GRCm39) |
N153S |
possibly damaging |
Het |
| Zfp395 |
A |
G |
14: 65,630,656 (GRCm39) |
D402G |
probably damaging |
Het |
| Zfp652 |
T |
C |
11: 95,640,435 (GRCm39) |
V120A |
probably damaging |
Het |
| Zp3r |
T |
C |
1: 130,510,629 (GRCm39) |
I364M |
probably damaging |
Het |
|
| Other mutations in Flnb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01017:Flnb
|
APN |
14 |
7,917,390 (GRCm38) |
splice site |
probably benign |
|
|
IGL01063:Flnb
|
APN |
14 |
7,926,518 (GRCm38) |
splice site |
probably benign |
|
|
IGL01135:Flnb
|
APN |
14 |
7,909,736 (GRCm38) |
missense |
probably benign |
|
|
IGL01139:Flnb
|
APN |
14 |
7,945,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01364:Flnb
|
APN |
14 |
7,934,562 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL01417:Flnb
|
APN |
14 |
7,905,513 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01505:Flnb
|
APN |
14 |
7,902,003 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01560:Flnb
|
APN |
14 |
7,893,829 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL01621:Flnb
|
APN |
14 |
7,950,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01656:Flnb
|
APN |
14 |
7,902,010 (GRCm38) |
splice site |
probably benign |
|
|
IGL01889:Flnb
|
APN |
14 |
7,935,967 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL01987:Flnb
|
APN |
14 |
7,922,748 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02322:Flnb
|
APN |
14 |
7,894,676 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02496:Flnb
|
APN |
14 |
7,930,919 (GRCm38) |
splice site |
probably benign |
|
|
IGL02752:Flnb
|
APN |
14 |
7,917,338 (GRCm38) |
missense |
probably benign |
|
|
IGL03001:Flnb
|
APN |
14 |
7,934,680 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03076:Flnb
|
APN |
14 |
7,901,988 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03085:Flnb
|
APN |
14 |
7,882,211 (GRCm38) |
missense |
probably benign |
|
|
IGL03170:Flnb
|
APN |
14 |
7,818,261 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL03373:Flnb
|
APN |
14 |
7,890,867 (GRCm38) |
critical splice donor site |
probably null |
|
|
Boomerang
|
UTSW |
14 |
7,901,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Queensland
|
UTSW |
14 |
7,927,352 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3437_Flnb_252
|
UTSW |
14 |
7,942,057 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8441_Flnb_221
|
UTSW |
14 |
7,896,488 (GRCm38) |
missense |
probably benign |
0.15 |
|
Rhodelinda
|
UTSW |
14 |
7,887,682 (GRCm38) |
splice site |
probably benign |
|
|
saul
|
UTSW |
14 |
7,889,183 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Xerxes
|
UTSW |
14 |
7,867,551 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0068:Flnb
|
UTSW |
14 |
7,915,290 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R0068:Flnb
|
UTSW |
14 |
7,915,290 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R0084:Flnb
|
UTSW |
14 |
7,935,979 (GRCm38) |
missense |
probably benign |
|
|
R0128:Flnb
|
UTSW |
14 |
7,901,951 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0130:Flnb
|
UTSW |
14 |
7,901,951 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0148:Flnb
|
UTSW |
14 |
7,939,077 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0166:Flnb
|
UTSW |
14 |
7,896,115 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0376:Flnb
|
UTSW |
14 |
7,946,014 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0547:Flnb
|
UTSW |
14 |
7,912,943 (GRCm38) |
splice site |
probably null |
|
|
R0612:Flnb
|
UTSW |
14 |
7,887,682 (GRCm38) |
splice site |
probably benign |
|
|
R0656:Flnb
|
UTSW |
14 |
7,927,352 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0691:Flnb
|
UTSW |
14 |
7,890,810 (GRCm38) |
missense |
probably benign |
0.16 |
|
R1241:Flnb
|
UTSW |
14 |
7,896,503 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1572:Flnb
|
UTSW |
14 |
7,883,908 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1682:Flnb
|
UTSW |
14 |
7,913,121 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1807:Flnb
|
UTSW |
14 |
7,934,645 (GRCm38) |
missense |
probably benign |
0.26 |
|
R1848:Flnb
|
UTSW |
14 |
7,892,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1959:Flnb
|
UTSW |
14 |
7,884,735 (GRCm38) |
nonsense |
probably null |
|
|
R2078:Flnb
|
UTSW |
14 |
7,927,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2132:Flnb
|
UTSW |
14 |
7,873,376 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2209:Flnb
|
UTSW |
14 |
7,905,507 (GRCm38) |
nonsense |
probably null |
|
|
R2212:Flnb
|
UTSW |
14 |
7,881,652 (GRCm38) |
small deletion |
probably benign |
|
|
R2213:Flnb
|
UTSW |
14 |
7,881,652 (GRCm38) |
small deletion |
probably benign |
|
|
R2363:Flnb
|
UTSW |
14 |
7,945,950 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2415:Flnb
|
UTSW |
14 |
7,929,932 (GRCm38) |
missense |
probably benign |
0.07 |
|
R2983:Flnb
|
UTSW |
14 |
7,882,250 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3001:Flnb
|
UTSW |
14 |
7,907,162 (GRCm38) |
missense |
probably benign |
0.22 |
|
R3002:Flnb
|
UTSW |
14 |
7,907,162 (GRCm38) |
missense |
probably benign |
0.22 |
|
R3436:Flnb
|
UTSW |
14 |
7,942,057 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3437:Flnb
|
UTSW |
14 |
7,942,057 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3778:Flnb
|
UTSW |
14 |
7,915,353 (GRCm38) |
missense |
probably benign |
0.06 |
|
R3783:Flnb
|
UTSW |
14 |
7,889,236 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4162:Flnb
|
UTSW |
14 |
7,915,374 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4163:Flnb
|
UTSW |
14 |
7,915,374 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4164:Flnb
|
UTSW |
14 |
7,915,374 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4356:Flnb
|
UTSW |
14 |
7,922,700 (GRCm38) |
missense |
probably benign |
|
|
R4369:Flnb
|
UTSW |
14 |
7,942,216 (GRCm38) |
missense |
probably benign |
|
|
R4783:Flnb
|
UTSW |
14 |
7,905,701 (GRCm38) |
missense |
probably benign |
0.12 |
|
R4785:Flnb
|
UTSW |
14 |
7,905,701 (GRCm38) |
missense |
probably benign |
0.12 |
|
R4828:Flnb
|
UTSW |
14 |
7,919,238 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4882:Flnb
|
UTSW |
14 |
7,929,936 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R5002:Flnb
|
UTSW |
14 |
7,945,882 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5058:Flnb
|
UTSW |
14 |
7,924,262 (GRCm38) |
nonsense |
probably null |
|
|
R5184:Flnb
|
UTSW |
14 |
7,901,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5186:Flnb
|
UTSW |
14 |
7,909,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5395:Flnb
|
UTSW |
14 |
7,883,881 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5421:Flnb
|
UTSW |
14 |
7,926,494 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5667:Flnb
|
UTSW |
14 |
7,890,843 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5671:Flnb
|
UTSW |
14 |
7,890,843 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5714:Flnb
|
UTSW |
14 |
7,929,073 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5860:Flnb
|
UTSW |
14 |
7,931,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5892:Flnb
|
UTSW |
14 |
7,907,183 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5924:Flnb
|
UTSW |
14 |
7,890,765 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6131:Flnb
|
UTSW |
14 |
7,894,635 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R6244:Flnb
|
UTSW |
14 |
7,892,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6489:Flnb
|
UTSW |
14 |
7,867,551 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6582:Flnb
|
UTSW |
14 |
7,892,275 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6586:Flnb
|
UTSW |
14 |
7,929,138 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6611:Flnb
|
UTSW |
14 |
7,915,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6626:Flnb
|
UTSW |
14 |
7,929,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6700:Flnb
|
UTSW |
14 |
7,892,189 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6738:Flnb
|
UTSW |
14 |
7,904,536 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6864:Flnb
|
UTSW |
14 |
7,905,640 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R6916:Flnb
|
UTSW |
14 |
7,907,171 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7117:Flnb
|
UTSW |
14 |
7,894,214 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7164:Flnb
|
UTSW |
14 |
7,915,944 (GRCm38) |
splice site |
probably null |
|
|
R7328:Flnb
|
UTSW |
14 |
7,894,660 (GRCm38) |
nonsense |
probably null |
|
|
R7328:Flnb
|
UTSW |
14 |
7,883,788 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7687:Flnb
|
UTSW |
14 |
7,924,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7716:Flnb
|
UTSW |
14 |
7,917,274 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R7763:Flnb
|
UTSW |
14 |
7,926,478 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7821:Flnb
|
UTSW |
14 |
7,939,113 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7921:Flnb
|
UTSW |
14 |
7,933,800 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R8008:Flnb
|
UTSW |
14 |
7,892,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8075:Flnb
|
UTSW |
14 |
7,913,048 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8084:Flnb
|
UTSW |
14 |
7,907,243 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8259:Flnb
|
UTSW |
14 |
7,889,183 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8441:Flnb
|
UTSW |
14 |
7,896,488 (GRCm38) |
missense |
probably benign |
0.15 |
|
R8493:Flnb
|
UTSW |
14 |
7,869,822 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8508:Flnb
|
UTSW |
14 |
7,950,394 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8531:Flnb
|
UTSW |
14 |
7,929,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8812:Flnb
|
UTSW |
14 |
7,887,624 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8814:Flnb
|
UTSW |
14 |
7,927,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8825:Flnb
|
UTSW |
14 |
7,887,566 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8868:Flnb
|
UTSW |
14 |
7,908,671 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8955:Flnb
|
UTSW |
14 |
7,904,688 (GRCm38) |
nonsense |
probably null |
|
|
R8955:Flnb
|
UTSW |
14 |
7,892,874 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8976:Flnb
|
UTSW |
14 |
7,901,882 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9055:Flnb
|
UTSW |
14 |
7,908,553 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9148:Flnb
|
UTSW |
14 |
7,817,996 (GRCm38) |
start gained |
probably benign |
|
|
R9179:Flnb
|
UTSW |
14 |
7,887,541 (GRCm38) |
nonsense |
probably null |
|
|
R9180:Flnb
|
UTSW |
14 |
7,818,219 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9189:Flnb
|
UTSW |
14 |
7,892,976 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9286:Flnb
|
UTSW |
14 |
7,873,414 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9288:Flnb
|
UTSW |
14 |
7,904,498 (GRCm38) |
missense |
probably benign |
0.43 |
|
R9354:Flnb
|
UTSW |
14 |
7,818,411 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9484:Flnb
|
UTSW |
14 |
7,929,004 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9505:Flnb
|
UTSW |
14 |
7,904,665 (GRCm38) |
missense |
probably benign |
|
|
R9525:Flnb
|
UTSW |
14 |
7,905,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9621:Flnb
|
UTSW |
14 |
7,926,421 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9630:Flnb
|
UTSW |
14 |
7,926,438 (GRCm38) |
nonsense |
probably null |
|
|
R9739:Flnb
|
UTSW |
14 |
7,935,954 (GRCm38) |
nonsense |
probably null |
|
|
R9760:Flnb
|
UTSW |
14 |
7,929,846 (GRCm38) |
missense |
probably damaging |
0.98 |
|
X0066:Flnb
|
UTSW |
14 |
7,908,636 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Flnb
|
UTSW |
14 |
7,905,871 (GRCm38) |
missense |
probably benign |
0.04 |
|
Z1176:Flnb
|
UTSW |
14 |
7,942,066 (GRCm38) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGGAGGTTTGGGCCTAAC -3'
(R):5'- GTGTACATGCCAGCTGTCAG -3'
Sequencing Primer
(F):5'- GCCTAACTGTGGAAGGTCC -3'
(R):5'- CTGTCAGAGGCACATAGGTCAC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation