Incidental Mutation 'IGL03248:Frmd3'
| ID |
414464 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Frmd3
|
| Ensembl Gene |
ENSMUSG00000049122 |
| Gene Name |
FERM domain containing 3 |
| Synonyms |
4.1O, EPB41L4O, 9430066I12Rik, P410 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.343)
|
| Stock # |
IGL03248
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
73931679-74120451 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74046455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 132
(I132V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084474]
[ENSMUST00000098006]
|
| AlphaFold |
Q8BHD4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084474
AA Change: I132V
PolyPhen 2
Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000081514
Gene: ENSMUSG00000049122
AA Change: I132V
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
28 |
225 |
5.17e-57 |
SMART |
|
FERM_C
|
229 |
316 |
1.93e-18 |
SMART |
|
FA
|
322 |
368 |
4.1e-13 |
SMART |
|
low complexity region
|
391 |
401 |
N/A |
INTRINSIC |
|
transmembrane domain
|
530 |
552 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098006
AA Change: I132V
PolyPhen 2
Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000095615
Gene: ENSMUSG00000049122
AA Change: I132V
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
28 |
225 |
5.17e-57 |
SMART |
|
FERM_C
|
229 |
316 |
1.93e-18 |
SMART |
|
FA
|
322 |
368 |
4.1e-13 |
SMART |
|
low complexity region
|
391 |
401 |
N/A |
INTRINSIC |
|
transmembrane domain
|
529 |
551 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
C |
9: 122,197,290 (GRCm39) |
F116S |
probably damaging |
Het |
| Accsl |
A |
G |
2: 93,693,129 (GRCm39) |
|
probably benign |
Het |
| Adgrl2 |
T |
A |
3: 148,523,036 (GRCm39) |
E165V |
probably damaging |
Het |
| Alb |
T |
C |
5: 90,609,573 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 14,978,847 (GRCm39) |
V38A |
probably benign |
Het |
| Astn2 |
A |
G |
4: 65,664,530 (GRCm39) |
|
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,159,235 (GRCm39) |
R154H |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,868,844 (GRCm39) |
Y112H |
probably benign |
Het |
| Chrna5 |
C |
T |
9: 54,911,923 (GRCm39) |
T241I |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,530,206 (GRCm39) |
S1215G |
probably benign |
Het |
| Ddx21 |
C |
T |
10: 62,427,769 (GRCm39) |
R378Q |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 30,991,846 (GRCm39) |
L3052Q |
probably damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,861,016 (GRCm39) |
T445K |
probably benign |
Het |
| Ercc4 |
T |
C |
16: 12,945,457 (GRCm39) |
W291R |
probably damaging |
Het |
| Flvcr1 |
A |
G |
1: 190,757,939 (GRCm39) |
W76R |
probably damaging |
Het |
| Gnb4 |
T |
C |
3: 32,639,324 (GRCm39) |
D323G |
probably damaging |
Het |
| Hnrnpc |
G |
A |
14: 52,312,896 (GRCm39) |
|
probably benign |
Het |
| Hnrnpl |
T |
C |
7: 28,513,505 (GRCm39) |
S202P |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,321,921 (GRCm39) |
F4524L |
probably damaging |
Het |
| Iars2 |
A |
G |
1: 185,023,629 (GRCm39) |
|
probably benign |
Het |
| Ino80d |
A |
G |
1: 63,107,341 (GRCm39) |
|
probably null |
Het |
| Itga8 |
C |
A |
2: 12,137,327 (GRCm39) |
A13S |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 65,020,606 (GRCm39) |
F794S |
probably damaging |
Het |
| Mpp7 |
T |
C |
18: 7,403,269 (GRCm39) |
D347G |
probably benign |
Het |
| Nup93 |
T |
C |
8: 95,032,716 (GRCm39) |
L411P |
probably damaging |
Het |
| Or51f23 |
C |
T |
7: 102,452,846 (GRCm39) |
Q54* |
probably null |
Het |
| Plin1 |
C |
T |
7: 79,372,382 (GRCm39) |
V86I |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,099,324 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
C |
T |
5: 93,100,399 (GRCm39) |
P1473S |
probably benign |
Het |
| Slc12a8 |
A |
G |
16: 33,371,397 (GRCm39) |
I178V |
probably damaging |
Het |
| Slc20a2 |
T |
A |
8: 23,048,999 (GRCm39) |
S219T |
probably benign |
Het |
| Tasor |
C |
T |
14: 27,198,649 (GRCm39) |
T1327I |
probably damaging |
Het |
| Tfeb |
T |
C |
17: 48,097,920 (GRCm39) |
M36T |
probably benign |
Het |
| Trim33 |
G |
A |
3: 103,218,289 (GRCm39) |
|
probably benign |
Het |
| Trnau1ap |
A |
G |
4: 132,049,114 (GRCm39) |
Y30H |
probably damaging |
Het |
| Tulp1 |
T |
C |
17: 28,578,298 (GRCm39) |
K276E |
possibly damaging |
Het |
| Uvssa |
T |
A |
5: 33,549,160 (GRCm39) |
I340N |
probably damaging |
Het |
| Vmn1r32 |
T |
A |
6: 66,529,897 (GRCm39) |
N293I |
possibly damaging |
Het |
| Xpc |
T |
C |
6: 91,481,565 (GRCm39) |
N250S |
probably damaging |
Het |
| Ybey |
T |
C |
10: 76,304,161 (GRCm39) |
I14V |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,673,182 (GRCm39) |
Y1411H |
probably damaging |
Het |
|
| Other mutations in Frmd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01021:Frmd3
|
APN |
4 |
73,992,357 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01774:Frmd3
|
APN |
4 |
74,106,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02213:Frmd3
|
APN |
4 |
74,054,109 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02479:Frmd3
|
APN |
4 |
74,105,752 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0765:Frmd3
|
UTSW |
4 |
74,080,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1411:Frmd3
|
UTSW |
4 |
74,071,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Frmd3
|
UTSW |
4 |
73,931,995 (GRCm39) |
start gained |
probably benign |
|
|
R1990:Frmd3
|
UTSW |
4 |
74,105,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3898:Frmd3
|
UTSW |
4 |
73,992,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4377:Frmd3
|
UTSW |
4 |
74,046,535 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4616:Frmd3
|
UTSW |
4 |
74,106,109 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4965:Frmd3
|
UTSW |
4 |
74,071,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Frmd3
|
UTSW |
4 |
74,016,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5104:Frmd3
|
UTSW |
4 |
74,063,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5418:Frmd3
|
UTSW |
4 |
74,079,935 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5434:Frmd3
|
UTSW |
4 |
74,106,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5878:Frmd3
|
UTSW |
4 |
74,071,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5999:Frmd3
|
UTSW |
4 |
74,088,928 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6031:Frmd3
|
UTSW |
4 |
74,105,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6031:Frmd3
|
UTSW |
4 |
74,105,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6616:Frmd3
|
UTSW |
4 |
74,105,725 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6813:Frmd3
|
UTSW |
4 |
74,077,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6941:Frmd3
|
UTSW |
4 |
74,016,363 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7233:Frmd3
|
UTSW |
4 |
73,932,023 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7334:Frmd3
|
UTSW |
4 |
74,079,955 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7429:Frmd3
|
UTSW |
4 |
74,063,342 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7430:Frmd3
|
UTSW |
4 |
74,063,342 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7979:Frmd3
|
UTSW |
4 |
74,071,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Frmd3
|
UTSW |
4 |
74,080,286 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8994:Frmd3
|
UTSW |
4 |
74,088,985 (GRCm39) |
missense |
probably benign |
|
|
R9065:Frmd3
|
UTSW |
4 |
74,063,269 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9351:Frmd3
|
UTSW |
4 |
74,054,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9498:Frmd3
|
UTSW |
4 |
74,038,055 (GRCm39) |
missense |
probably benign |
0.26 |
|
| Posted On |
2016-08-02 |
Incidental Mutation