Incidental Mutation 'R3969:Flna'
| ID |
310900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flna
|
| Ensembl Gene |
ENSMUSG00000031328 |
| Gene Name |
filamin, alpha |
| Synonyms |
filamin-1, GENA 379, ABP-280, Dilp2, Fln1, actin-binding protein 280, F730004A14Rik |
| MMRRC Submission |
040937-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.720)
|
| Stock # |
R3969 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
X |
| Chromosomal Location |
73267067-73293426 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73279273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1253
(V1253E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033699]
[ENSMUST00000101454]
[ENSMUST00000114299]
[ENSMUST00000130007]
|
| AlphaFold |
Q8BTM8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033699
AA Change: V1253E
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000033699
Gene: ENSMUSG00000031328
AA Change: V1253E
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
45 |
147 |
1.71e-27 |
SMART |
|
CH
|
168 |
264 |
8.03e-24 |
SMART |
|
IG_FLMN
|
280 |
377 |
1.08e-32 |
SMART |
|
IG_FLMN
|
380 |
477 |
1.46e-38 |
SMART |
|
IG_FLMN
|
479 |
573 |
3.42e-35 |
SMART |
|
IG_FLMN
|
575 |
666 |
3.94e-26 |
SMART |
|
IG_FLMN
|
671 |
766 |
1.9e-42 |
SMART |
|
IG_FLMN
|
768 |
869 |
6.76e-25 |
SMART |
|
IG_FLMN
|
871 |
968 |
2.96e-30 |
SMART |
|
IG_FLMN
|
970 |
1064 |
1.66e-24 |
SMART |
|
IG_FLMN
|
1066 |
1157 |
3.61e-43 |
SMART |
|
IG_FLMN
|
1159 |
1252 |
3.29e-37 |
SMART |
|
IG_FLMN
|
1254 |
1352 |
9.92e-32 |
SMART |
|
IG_FLMN
|
1354 |
1445 |
1.56e-38 |
SMART |
|
IG_FLMN
|
1447 |
1542 |
3.05e-41 |
SMART |
|
IG_FLMN
|
1544 |
1639 |
7.8e-39 |
SMART |
|
IG_FLMN
|
1641 |
1743 |
2.94e-34 |
SMART |
|
IG_FLMN
|
1772 |
1863 |
9.8e-13 |
SMART |
|
IG_FLMN
|
1864 |
1955 |
3.69e-40 |
SMART |
|
IG_FLMN
|
1956 |
2042 |
2.13e-13 |
SMART |
|
IG_FLMN
|
2046 |
2137 |
9.52e-43 |
SMART |
|
IG_FLMN
|
2150 |
2233 |
1.61e-8 |
SMART |
|
IG_FLMN
|
2237 |
2328 |
1.56e-38 |
SMART |
|
IG_FLMN
|
2331 |
2423 |
3.17e-30 |
SMART |
|
IG_FLMN
|
2428 |
2519 |
2.11e-35 |
SMART |
|
IG_FLMN
|
2556 |
2647 |
1.84e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101454
AA Change: V1253E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098997
Gene: ENSMUSG00000031328
AA Change: V1253E
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
45 |
147 |
1.71e-27 |
SMART |
|
CH
|
168 |
264 |
8.03e-24 |
SMART |
|
IG_FLMN
|
280 |
377 |
1.08e-32 |
SMART |
|
IG_FLMN
|
380 |
477 |
1.46e-38 |
SMART |
|
IG_FLMN
|
479 |
573 |
3.42e-35 |
SMART |
|
IG_FLMN
|
575 |
666 |
3.94e-26 |
SMART |
|
IG_FLMN
|
671 |
766 |
1.9e-42 |
SMART |
|
IG_FLMN
|
768 |
869 |
6.76e-25 |
SMART |
|
IG_FLMN
|
871 |
968 |
2.96e-30 |
SMART |
|
IG_FLMN
|
970 |
1064 |
1.66e-24 |
SMART |
|
IG_FLMN
|
1066 |
1157 |
3.61e-43 |
SMART |
|
IG_FLMN
|
1159 |
1252 |
3.29e-37 |
SMART |
|
IG_FLMN
|
1254 |
1352 |
9.92e-32 |
SMART |
|
IG_FLMN
|
1354 |
1445 |
1.56e-38 |
SMART |
|
IG_FLMN
|
1447 |
1542 |
3.05e-41 |
SMART |
|
IG_FLMN
|
1544 |
1639 |
7.8e-39 |
SMART |
|
IG_FLMN
|
1641 |
1735 |
1.86e-36 |
SMART |
|
IG_FLMN
|
1764 |
1855 |
9.8e-13 |
SMART |
|
IG_FLMN
|
1856 |
1947 |
3.69e-40 |
SMART |
|
IG_FLMN
|
1948 |
2034 |
2.13e-13 |
SMART |
|
IG_FLMN
|
2038 |
2129 |
9.52e-43 |
SMART |
|
IG_FLMN
|
2142 |
2225 |
1.61e-8 |
SMART |
|
IG_FLMN
|
2229 |
2320 |
1.56e-38 |
SMART |
|
IG_FLMN
|
2323 |
2415 |
3.17e-30 |
SMART |
|
IG_FLMN
|
2420 |
2511 |
2.11e-35 |
SMART |
|
IG_FLMN
|
2548 |
2639 |
1.84e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114299
AA Change: V1253E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109938
Gene: ENSMUSG00000031328
AA Change: V1253E
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
45 |
147 |
1.71e-27 |
SMART |
|
CH
|
168 |
264 |
8.03e-24 |
SMART |
|
IG_FLMN
|
280 |
377 |
1.08e-32 |
SMART |
|
IG_FLMN
|
380 |
477 |
1.46e-38 |
SMART |
|
IG_FLMN
|
479 |
573 |
3.42e-35 |
SMART |
|
IG_FLMN
|
575 |
666 |
3.94e-26 |
SMART |
|
IG_FLMN
|
671 |
766 |
1.9e-42 |
SMART |
|
IG_FLMN
|
768 |
869 |
6.76e-25 |
SMART |
|
IG_FLMN
|
871 |
968 |
2.96e-30 |
SMART |
|
IG_FLMN
|
970 |
1064 |
1.66e-24 |
SMART |
|
IG_FLMN
|
1066 |
1157 |
3.61e-43 |
SMART |
|
IG_FLMN
|
1159 |
1252 |
3.29e-37 |
SMART |
|
IG_FLMN
|
1254 |
1352 |
9.92e-32 |
SMART |
|
IG_FLMN
|
1354 |
1445 |
1.56e-38 |
SMART |
|
IG_FLMN
|
1447 |
1542 |
3.05e-41 |
SMART |
|
IG_FLMN
|
1544 |
1639 |
7.8e-39 |
SMART |
|
IG_FLMN
|
1641 |
1735 |
1.86e-36 |
SMART |
|
IG_FLMN
|
1764 |
1855 |
9.8e-13 |
SMART |
|
IG_FLMN
|
1856 |
1947 |
3.69e-40 |
SMART |
|
IG_FLMN
|
1948 |
2034 |
2.13e-13 |
SMART |
|
IG_FLMN
|
2038 |
2129 |
9.52e-43 |
SMART |
|
IG_FLMN
|
2142 |
2225 |
1.61e-8 |
SMART |
|
IG_FLMN
|
2229 |
2320 |
1.56e-38 |
SMART |
|
IG_FLMN
|
2323 |
2415 |
3.17e-30 |
SMART |
|
IG_FLMN
|
2420 |
2511 |
2.11e-35 |
SMART |
|
IG_FLMN
|
2548 |
2639 |
1.84e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130007
AA Change: V1229E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121082
Gene: ENSMUSG00000031328
AA Change: V1229E
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
21 |
123 |
1.71e-27 |
SMART |
|
CH
|
144 |
240 |
8.03e-24 |
SMART |
|
IG_FLMN
|
256 |
353 |
1.08e-32 |
SMART |
|
IG_FLMN
|
356 |
453 |
1.46e-38 |
SMART |
|
IG_FLMN
|
455 |
549 |
3.42e-35 |
SMART |
|
IG_FLMN
|
551 |
642 |
3.94e-26 |
SMART |
|
IG_FLMN
|
647 |
742 |
1.9e-42 |
SMART |
|
IG_FLMN
|
744 |
845 |
6.76e-25 |
SMART |
|
IG_FLMN
|
847 |
944 |
2.96e-30 |
SMART |
|
IG_FLMN
|
946 |
1040 |
1.66e-24 |
SMART |
|
IG_FLMN
|
1042 |
1133 |
3.61e-43 |
SMART |
|
IG_FLMN
|
1135 |
1228 |
3.29e-37 |
SMART |
|
IG_FLMN
|
1230 |
1328 |
9.92e-32 |
SMART |
|
IG_FLMN
|
1330 |
1421 |
1.56e-38 |
SMART |
|
IG_FLMN
|
1423 |
1518 |
3.05e-41 |
SMART |
|
IG_FLMN
|
1520 |
1615 |
7.8e-39 |
SMART |
|
IG_FLMN
|
1617 |
1711 |
3.67e-35 |
SMART |
|
IG_FLMN
|
1715 |
1799 |
1.19e-11 |
SMART |
|
IG_FLMN
|
1800 |
1891 |
3.69e-40 |
SMART |
|
IG_FLMN
|
1892 |
1978 |
2.13e-13 |
SMART |
|
IG_FLMN
|
1982 |
2073 |
9.52e-43 |
SMART |
|
IG_FLMN
|
2086 |
2169 |
1.61e-8 |
SMART |
|
IG_FLMN
|
2173 |
2264 |
1.56e-38 |
SMART |
|
IG_FLMN
|
2267 |
2359 |
3.17e-30 |
SMART |
|
IG_FLMN
|
2364 |
2455 |
2.11e-35 |
SMART |
|
IG_FLMN
|
2492 |
2583 |
1.84e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133288
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144429
|
| SMART Domains |
Protein: ENSMUSP00000123278
Gene: ENSMUSG00000031328
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
33 |
135 |
1.71e-27 |
SMART |
|
CH
|
156 |
252 |
8.03e-24 |
SMART |
|
IG_FLMN
|
268 |
365 |
1.08e-32 |
SMART |
|
IG_FLMN
|
368 |
465 |
1.46e-38 |
SMART |
|
internal_repeat_1
|
467 |
510 |
3.09e-8 |
PROSPERO |
|
| Meta Mutation Damage Score |
0.7120 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (48/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
PHENOTYPE: Females heterozygous for an X-linked, ENU-induced mutation exhibit dilated pupils and milder cardiac, sternum, and palate defects than males. Hemizygous males are inviable and exhibit incomplete septation of the outflow tract, septal defects, cleft palate and incomplete fusion of the sternum. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
A |
G |
10: 20,835,846 (GRCm39) |
K60E |
probably damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
| Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
| Camk2d |
G |
T |
3: 126,590,608 (GRCm39) |
C273F |
possibly damaging |
Het |
| Camk4 |
T |
A |
18: 33,312,634 (GRCm39) |
I258N |
possibly damaging |
Het |
| Chia1 |
T |
G |
3: 106,028,951 (GRCm39) |
|
probably null |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cpeb4 |
T |
C |
11: 31,822,811 (GRCm39) |
I175T |
possibly damaging |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Faap100 |
A |
T |
11: 120,269,531 (GRCm39) |
M1K |
probably null |
Het |
| Fryl |
A |
T |
5: 73,269,766 (GRCm39) |
S396R |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,798,172 (GRCm39) |
C774S |
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,300,133 (GRCm39) |
Y194C |
probably damaging |
Het |
| Insyn2b |
A |
T |
11: 34,369,739 (GRCm39) |
Q481L |
probably damaging |
Het |
| Irf5 |
A |
T |
6: 29,536,781 (GRCm39) |
Q497H |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
| Lins1 |
C |
T |
7: 66,357,946 (GRCm39) |
T27I |
probably benign |
Het |
| Ncstn |
A |
C |
1: 171,897,576 (GRCm39) |
V439G |
probably damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
A |
T |
13: 49,813,492 (GRCm39) |
K162* |
probably null |
Het |
| Or7g21 |
A |
G |
9: 19,032,956 (GRCm39) |
E232G |
probably benign |
Het |
| Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
| Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
| Pecr |
G |
A |
1: 72,315,468 (GRCm39) |
T94I |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,144,767 (GRCm39) |
V2776E |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Pole3 |
G |
T |
4: 62,443,198 (GRCm39) |
N12K |
possibly damaging |
Het |
| Prl2a1 |
A |
G |
13: 27,990,263 (GRCm39) |
S71G |
probably benign |
Het |
| Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,318,494 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,088,738 (GRCm39) |
V496A |
probably benign |
Het |
| Slc26a1 |
A |
G |
5: 108,821,818 (GRCm39) |
S24P |
probably benign |
Het |
| Tspoap1 |
A |
T |
11: 87,653,272 (GRCm39) |
N113Y |
probably damaging |
Het |
| Usp17lc |
A |
T |
7: 103,067,626 (GRCm39) |
H307L |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,652,801 (GRCm39) |
W498R |
probably damaging |
Het |
| Vmn2r94 |
C |
A |
17: 18,478,647 (GRCm39) |
Q33H |
possibly damaging |
Het |
| Wwc2 |
T |
C |
8: 48,309,358 (GRCm39) |
D808G |
unknown |
Het |
| Ybx2 |
G |
A |
11: 69,831,242 (GRCm39) |
R84Q |
probably damaging |
Het |
| Zfp462 |
C |
T |
4: 55,012,402 (GRCm39) |
S308F |
probably damaging |
Het |
|
| Other mutations in Flna |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00901:Flna
|
APN |
X |
73,273,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02048:Flna
|
APN |
X |
73,272,106 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02413:Flna
|
APN |
X |
73,284,888 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02620:Flna
|
APN |
X |
73,273,582 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02930:Flna
|
APN |
X |
73,267,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02965:Flna
|
APN |
X |
73,270,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03218:Flna
|
APN |
X |
73,278,208 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1864:Flna
|
UTSW |
X |
73,283,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3970:Flna
|
UTSW |
X |
73,279,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4084:Flna
|
UTSW |
X |
73,280,531 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCAGTCTGTGTAAGAGCC -3'
(R):5'- ACTGTTCAAGTGCTGGCAGTG -3'
Sequencing Primer
(F):5'- TGTGTAAGAGCCCGGGCATC -3'
(R):5'- AGTTGACGATTGAGATCTGCTC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation