Incidental Mutation 'R0529:Frmd4a'
ID |
49032 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Frmd4a
|
Ensembl Gene |
ENSMUSG00000026657 |
Gene Name |
FERM domain containing 4A |
Synonyms |
2700017I06Rik, C230040M21Rik, Gm13190 |
MMRRC Submission |
038721-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.134)
|
Stock # |
R0529 (G1)
|
Quality Score |
167 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
4022528-4618854 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4610834 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 995
(T995A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089079
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075767]
[ENSMUST00000091497]
[ENSMUST00000176828]
[ENSMUST00000177457]
|
AlphaFold |
Q8BIE6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075767
AA Change: T984A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000075172 Gene: ENSMUSG00000026657 AA Change: T984A
Domain | Start | End | E-Value | Type |
B41
|
1 |
206 |
3.24e-40 |
SMART |
FERM_C
|
210 |
311 |
7.69e-27 |
SMART |
Pfam:DUF3338
|
340 |
477 |
1.9e-63 |
PFAM |
low complexity region
|
558 |
571 |
N/A |
INTRINSIC |
low complexity region
|
610 |
623 |
N/A |
INTRINSIC |
low complexity region
|
732 |
741 |
N/A |
INTRINSIC |
low complexity region
|
764 |
785 |
N/A |
INTRINSIC |
low complexity region
|
790 |
801 |
N/A |
INTRINSIC |
low complexity region
|
924 |
947 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091497
AA Change: T995A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000089079 Gene: ENSMUSG00000026657 AA Change: T995A
Domain | Start | End | E-Value | Type |
B41
|
12 |
217 |
3.24e-40 |
SMART |
FERM_C
|
221 |
322 |
7.69e-27 |
SMART |
Pfam:DUF3338
|
352 |
487 |
6.3e-61 |
PFAM |
low complexity region
|
569 |
582 |
N/A |
INTRINSIC |
low complexity region
|
621 |
634 |
N/A |
INTRINSIC |
low complexity region
|
743 |
752 |
N/A |
INTRINSIC |
low complexity region
|
775 |
796 |
N/A |
INTRINSIC |
low complexity region
|
801 |
812 |
N/A |
INTRINSIC |
low complexity region
|
935 |
958 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176828
AA Change: T690A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000134803 Gene: ENSMUSG00000026657 AA Change: T690A
Domain | Start | End | E-Value | Type |
Pfam:DUF3338
|
46 |
183 |
4.1e-64 |
PFAM |
low complexity region
|
264 |
277 |
N/A |
INTRINSIC |
low complexity region
|
316 |
329 |
N/A |
INTRINSIC |
low complexity region
|
438 |
447 |
N/A |
INTRINSIC |
low complexity region
|
470 |
491 |
N/A |
INTRINSIC |
low complexity region
|
496 |
507 |
N/A |
INTRINSIC |
low complexity region
|
630 |
653 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177457
AA Change: T999A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000134788 Gene: ENSMUSG00000026657 AA Change: T999A
Domain | Start | End | E-Value | Type |
B41
|
16 |
221 |
3.24e-40 |
SMART |
FERM_C
|
225 |
326 |
7.69e-27 |
SMART |
Pfam:DUF3338
|
355 |
492 |
3.9e-63 |
PFAM |
low complexity region
|
573 |
586 |
N/A |
INTRINSIC |
low complexity region
|
625 |
638 |
N/A |
INTRINSIC |
low complexity region
|
747 |
756 |
N/A |
INTRINSIC |
low complexity region
|
779 |
800 |
N/A |
INTRINSIC |
low complexity region
|
805 |
816 |
N/A |
INTRINSIC |
low complexity region
|
939 |
962 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1453 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
97% (58/60) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
G |
A |
17: 9,211,228 (GRCm39) |
V126I |
probably benign |
Het |
Aasdh |
A |
C |
5: 77,024,114 (GRCm39) |
Y179* |
probably null |
Het |
Afp |
A |
G |
5: 90,652,254 (GRCm39) |
Y415C |
probably damaging |
Het |
Aldh5a1 |
G |
T |
13: 25,097,856 (GRCm39) |
T393K |
probably benign |
Het |
Arhgef26 |
T |
C |
3: 62,247,146 (GRCm39) |
S77P |
probably benign |
Het |
Axl |
A |
G |
7: 25,486,712 (GRCm39) |
|
probably benign |
Het |
Card10 |
A |
G |
15: 78,664,675 (GRCm39) |
|
probably null |
Het |
Ccdc71l |
G |
A |
12: 32,429,251 (GRCm39) |
S90N |
probably damaging |
Het |
Cebpa |
A |
T |
7: 34,819,624 (GRCm39) |
T261S |
probably benign |
Het |
Cnmd |
T |
C |
14: 79,879,481 (GRCm39) |
E219G |
probably benign |
Het |
Cntln |
T |
A |
4: 84,986,062 (GRCm39) |
L1010H |
probably damaging |
Het |
Cul9 |
A |
G |
17: 46,831,394 (GRCm39) |
|
probably benign |
Het |
Cyld |
A |
G |
8: 89,456,387 (GRCm39) |
E479G |
probably benign |
Het |
Dmp1 |
A |
G |
5: 104,360,092 (GRCm39) |
E256G |
probably benign |
Het |
Dnmt1 |
T |
C |
9: 20,822,846 (GRCm39) |
D1140G |
probably damaging |
Het |
Drd2 |
A |
C |
9: 49,318,374 (GRCm39) |
M439L |
probably benign |
Het |
Drd3 |
G |
A |
16: 43,643,077 (GRCm39) |
V438M |
probably damaging |
Het |
Dyrk3 |
A |
G |
1: 131,057,858 (GRCm39) |
I70T |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,639,057 (GRCm39) |
K1082E |
probably damaging |
Het |
Fbxw10 |
A |
C |
11: 62,750,671 (GRCm39) |
D428A |
probably damaging |
Het |
Fmn1 |
T |
A |
2: 113,538,198 (GRCm39) |
|
probably benign |
Het |
Fmnl2 |
A |
T |
2: 52,932,377 (GRCm39) |
I119F |
probably damaging |
Het |
Gda |
T |
A |
19: 21,402,901 (GRCm39) |
I82F |
probably damaging |
Het |
Gpatch4 |
T |
A |
3: 87,958,583 (GRCm39) |
H22Q |
probably damaging |
Het |
Gpr55 |
A |
G |
1: 85,869,225 (GRCm39) |
F119L |
probably benign |
Het |
Gtf2i |
A |
T |
5: 134,290,723 (GRCm39) |
L425* |
probably null |
Het |
Knstrn |
T |
A |
2: 118,661,461 (GRCm39) |
|
probably benign |
Het |
Lipo2 |
T |
A |
19: 33,724,335 (GRCm39) |
I144L |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,377,463 (GRCm39) |
|
probably null |
Het |
Mtmr14 |
T |
C |
6: 113,243,213 (GRCm39) |
|
probably benign |
Het |
Nsmce4a |
A |
T |
7: 130,135,536 (GRCm39) |
S345R |
probably benign |
Het |
Oacyl |
T |
A |
18: 65,875,290 (GRCm39) |
V385D |
probably damaging |
Het |
Or6k8-ps1 |
G |
A |
1: 173,979,696 (GRCm39) |
A205T |
probably benign |
Het |
Or8b52 |
A |
T |
9: 38,576,808 (GRCm39) |
C111S |
probably benign |
Het |
Phlpp2 |
T |
C |
8: 110,603,603 (GRCm39) |
S55P |
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,390,150 (GRCm39) |
V1422E |
possibly damaging |
Het |
Plcd3 |
T |
G |
11: 102,971,013 (GRCm39) |
H181P |
probably benign |
Het |
Psmc5 |
G |
A |
11: 106,151,990 (GRCm39) |
|
probably null |
Het |
Psmd11 |
T |
C |
11: 80,361,515 (GRCm39) |
|
probably benign |
Het |
Rab39 |
T |
C |
9: 53,598,016 (GRCm39) |
Y83C |
probably damaging |
Het |
Ric8a |
A |
G |
7: 140,440,806 (GRCm39) |
E93G |
probably damaging |
Het |
Rtp3 |
T |
C |
9: 110,816,152 (GRCm39) |
E133G |
possibly damaging |
Het |
Serpina1e |
A |
C |
12: 103,915,363 (GRCm39) |
L281R |
probably damaging |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Tent5c |
A |
G |
3: 100,379,686 (GRCm39) |
Y357H |
probably benign |
Het |
Tmem63a |
A |
T |
1: 180,788,659 (GRCm39) |
E332V |
probably benign |
Het |
Tnk1 |
T |
C |
11: 69,745,990 (GRCm39) |
T312A |
probably damaging |
Het |
Traf3ip3 |
G |
T |
1: 192,877,119 (GRCm39) |
|
probably benign |
Het |
Trappc11 |
A |
G |
8: 47,980,014 (GRCm39) |
V174A |
possibly damaging |
Het |
Vmn1r174 |
G |
A |
7: 23,453,622 (GRCm39) |
R96H |
probably benign |
Het |
Vmn1r7 |
T |
A |
6: 57,001,450 (GRCm39) |
Y270F |
possibly damaging |
Het |
Vmn2r12 |
A |
G |
5: 109,240,714 (GRCm39) |
V133A |
probably benign |
Het |
Vmn2r18 |
T |
A |
5: 151,485,988 (GRCm39) |
E502V |
probably damaging |
Het |
Wipf3 |
C |
A |
6: 54,462,348 (GRCm39) |
P186Q |
probably damaging |
Het |
Yipf5 |
A |
T |
18: 40,345,215 (GRCm39) |
M55K |
probably benign |
Het |
Zbtb7a |
G |
A |
10: 80,979,820 (GRCm39) |
V5M |
probably damaging |
Het |
Zfy1 |
G |
T |
Y: 726,040 (GRCm39) |
S575Y |
probably damaging |
Het |
|
Other mutations in Frmd4a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00339:Frmd4a
|
APN |
2 |
4,599,525 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00508:Frmd4a
|
APN |
2 |
4,599,545 (GRCm39) |
nonsense |
probably null |
|
IGL01331:Frmd4a
|
APN |
2 |
4,607,036 (GRCm39) |
missense |
probably benign |
0.32 |
IGL01774:Frmd4a
|
APN |
2 |
4,540,047 (GRCm39) |
splice site |
probably benign |
|
IGL01909:Frmd4a
|
APN |
2 |
4,608,844 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02170:Frmd4a
|
APN |
2 |
4,570,988 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02269:Frmd4a
|
APN |
2 |
4,609,045 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02377:Frmd4a
|
APN |
2 |
4,539,385 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL03308:Frmd4a
|
APN |
2 |
4,502,837 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0066:Frmd4a
|
UTSW |
2 |
4,477,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R0066:Frmd4a
|
UTSW |
2 |
4,477,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R0081:Frmd4a
|
UTSW |
2 |
4,577,252 (GRCm39) |
critical splice donor site |
probably null |
|
R0128:Frmd4a
|
UTSW |
2 |
4,608,903 (GRCm39) |
missense |
probably damaging |
0.98 |
R0130:Frmd4a
|
UTSW |
2 |
4,608,903 (GRCm39) |
missense |
probably damaging |
0.98 |
R0376:Frmd4a
|
UTSW |
2 |
4,577,198 (GRCm39) |
missense |
probably damaging |
0.97 |
R0549:Frmd4a
|
UTSW |
2 |
4,608,778 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1593:Frmd4a
|
UTSW |
2 |
4,477,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R1959:Frmd4a
|
UTSW |
2 |
4,539,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R2002:Frmd4a
|
UTSW |
2 |
4,577,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R2100:Frmd4a
|
UTSW |
2 |
4,610,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R2310:Frmd4a
|
UTSW |
2 |
4,577,210 (GRCm39) |
frame shift |
probably null |
|
R2340:Frmd4a
|
UTSW |
2 |
4,591,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R2426:Frmd4a
|
UTSW |
2 |
4,534,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R2680:Frmd4a
|
UTSW |
2 |
4,539,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R3409:Frmd4a
|
UTSW |
2 |
4,157,839 (GRCm39) |
intron |
probably benign |
|
R3772:Frmd4a
|
UTSW |
2 |
4,595,433 (GRCm39) |
missense |
probably damaging |
0.99 |
R3773:Frmd4a
|
UTSW |
2 |
4,595,433 (GRCm39) |
missense |
probably damaging |
0.99 |
R3932:Frmd4a
|
UTSW |
2 |
4,542,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R4094:Frmd4a
|
UTSW |
2 |
4,615,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R4226:Frmd4a
|
UTSW |
2 |
4,337,889 (GRCm39) |
missense |
probably benign |
0.00 |
R4299:Frmd4a
|
UTSW |
2 |
4,337,882 (GRCm39) |
missense |
probably benign |
0.02 |
R4304:Frmd4a
|
UTSW |
2 |
4,337,889 (GRCm39) |
missense |
probably benign |
0.00 |
R4306:Frmd4a
|
UTSW |
2 |
4,337,889 (GRCm39) |
missense |
probably benign |
0.00 |
R4307:Frmd4a
|
UTSW |
2 |
4,337,889 (GRCm39) |
missense |
probably benign |
0.00 |
R4346:Frmd4a
|
UTSW |
2 |
4,612,844 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4360:Frmd4a
|
UTSW |
2 |
4,606,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R4384:Frmd4a
|
UTSW |
2 |
4,599,374 (GRCm39) |
nonsense |
probably null |
|
R4547:Frmd4a
|
UTSW |
2 |
4,477,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R4575:Frmd4a
|
UTSW |
2 |
4,608,490 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4577:Frmd4a
|
UTSW |
2 |
4,608,490 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4578:Frmd4a
|
UTSW |
2 |
4,608,490 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4688:Frmd4a
|
UTSW |
2 |
4,542,122 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4764:Frmd4a
|
UTSW |
2 |
4,608,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R4826:Frmd4a
|
UTSW |
2 |
4,606,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R4879:Frmd4a
|
UTSW |
2 |
4,534,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R5053:Frmd4a
|
UTSW |
2 |
4,608,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R5392:Frmd4a
|
UTSW |
2 |
4,599,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R5733:Frmd4a
|
UTSW |
2 |
4,305,768 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5762:Frmd4a
|
UTSW |
2 |
4,488,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R5920:Frmd4a
|
UTSW |
2 |
4,337,927 (GRCm39) |
missense |
probably benign |
0.02 |
R5932:Frmd4a
|
UTSW |
2 |
4,534,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R6117:Frmd4a
|
UTSW |
2 |
4,607,060 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6328:Frmd4a
|
UTSW |
2 |
4,595,509 (GRCm39) |
missense |
probably damaging |
0.99 |
R6622:Frmd4a
|
UTSW |
2 |
4,610,873 (GRCm39) |
missense |
probably benign |
0.00 |
R6903:Frmd4a
|
UTSW |
2 |
4,591,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R7065:Frmd4a
|
UTSW |
2 |
4,570,923 (GRCm39) |
|
|
|
R7098:Frmd4a
|
UTSW |
2 |
4,577,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R7258:Frmd4a
|
UTSW |
2 |
4,305,764 (GRCm39) |
missense |
probably benign |
|
R7336:Frmd4a
|
UTSW |
2 |
4,478,025 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7582:Frmd4a
|
UTSW |
2 |
4,599,408 (GRCm39) |
frame shift |
probably null |
|
R7607:Frmd4a
|
UTSW |
2 |
4,596,747 (GRCm39) |
nonsense |
probably null |
|
R7697:Frmd4a
|
UTSW |
2 |
4,488,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R7750:Frmd4a
|
UTSW |
2 |
4,606,160 (GRCm39) |
missense |
probably benign |
0.14 |
R7795:Frmd4a
|
UTSW |
2 |
4,595,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R7848:Frmd4a
|
UTSW |
2 |
4,596,728 (GRCm39) |
intron |
probably benign |
|
R7899:Frmd4a
|
UTSW |
2 |
4,608,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R8024:Frmd4a
|
UTSW |
2 |
4,608,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R8399:Frmd4a
|
UTSW |
2 |
4,577,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R8778:Frmd4a
|
UTSW |
2 |
4,478,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R8876:Frmd4a
|
UTSW |
2 |
4,606,111 (GRCm39) |
missense |
probably damaging |
0.99 |
R9074:Frmd4a
|
UTSW |
2 |
4,608,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R9075:Frmd4a
|
UTSW |
2 |
4,608,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R9076:Frmd4a
|
UTSW |
2 |
4,608,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R9105:Frmd4a
|
UTSW |
2 |
4,539,994 (GRCm39) |
missense |
probably damaging |
0.96 |
R9213:Frmd4a
|
UTSW |
2 |
4,608,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R9227:Frmd4a
|
UTSW |
2 |
4,612,844 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9230:Frmd4a
|
UTSW |
2 |
4,612,844 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9235:Frmd4a
|
UTSW |
2 |
4,599,366 (GRCm39) |
missense |
probably damaging |
0.99 |
R9266:Frmd4a
|
UTSW |
2 |
4,610,846 (GRCm39) |
missense |
probably damaging |
0.99 |
R9301:Frmd4a
|
UTSW |
2 |
4,157,904 (GRCm39) |
missense |
probably benign |
0.27 |
R9307:Frmd4a
|
UTSW |
2 |
4,609,044 (GRCm39) |
missense |
probably benign |
|
R9365:Frmd4a
|
UTSW |
2 |
4,606,973 (GRCm39) |
missense |
probably benign |
0.01 |
R9476:Frmd4a
|
UTSW |
2 |
4,608,324 (GRCm39) |
missense |
probably benign |
0.32 |
R9484:Frmd4a
|
UTSW |
2 |
4,609,026 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9510:Frmd4a
|
UTSW |
2 |
4,608,324 (GRCm39) |
missense |
probably benign |
0.32 |
R9513:Frmd4a
|
UTSW |
2 |
4,608,711 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Frmd4a
|
UTSW |
2 |
4,502,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACATTGGTCACACCTGCCAC -3'
(R):5'- TGCCGCCCAGAATTGAATCCAC -3'
Sequencing Primer
(F):5'- ACTGGGTCTGTCATTGACTTAC -3'
(R):5'- TGTTTCAGCCCAGGAATCAC -3'
|
Posted On |
2013-06-12 |