Incidental Mutation 'IGL01021:Frmd3'
ID |
53550 |
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: 0.300)
|
Stock # |
IGL01021
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
73931679-74120451 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73992357 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 75
(I75V)
|
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: I75V
PolyPhen 2
Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000081514 Gene: ENSMUSG00000049122 AA Change: I75V
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: I75V
PolyPhen 2
Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000095615 Gene: ENSMUSG00000049122 AA Change: I75V
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930533L02Rik |
T |
C |
7: 124,917,848 (GRCm39) |
V80A |
unknown |
Het |
Adam28 |
A |
G |
14: 68,879,563 (GRCm39) |
S162P |
probably benign |
Het |
Adamts14 |
G |
T |
10: 61,061,152 (GRCm39) |
S426Y |
probably damaging |
Het |
Ankrd24 |
A |
G |
10: 81,470,995 (GRCm39) |
|
probably null |
Het |
B3galt5 |
C |
A |
16: 96,116,923 (GRCm39) |
H185Q |
probably benign |
Het |
Bod1l |
A |
G |
5: 41,995,516 (GRCm39) |
|
probably benign |
Het |
Ddx46 |
T |
A |
13: 55,814,145 (GRCm39) |
Y700* |
probably null |
Het |
Dph7 |
T |
G |
2: 24,861,935 (GRCm39) |
|
probably null |
Het |
Eif1ad9 |
G |
A |
12: 88,296,042 (GRCm39) |
G7R |
unknown |
Het |
Fcho1 |
A |
T |
8: 72,166,167 (GRCm39) |
Y354* |
probably null |
Het |
Fnbp4 |
A |
G |
2: 90,608,013 (GRCm39) |
M912V |
probably benign |
Het |
Fpgt |
T |
A |
3: 154,797,129 (GRCm39) |
E42V |
possibly damaging |
Het |
Gm3278 |
G |
T |
14: 16,082,261 (GRCm39) |
V159L |
possibly damaging |
Het |
Gmds |
T |
C |
13: 32,311,013 (GRCm39) |
I205V |
possibly damaging |
Het |
Gprin1 |
T |
A |
13: 54,888,182 (GRCm39) |
S31C |
probably damaging |
Het |
Igkv4-68 |
T |
C |
6: 69,281,865 (GRCm39) |
E102G |
probably damaging |
Het |
Itga1 |
T |
A |
13: 115,133,536 (GRCm39) |
Y458F |
probably benign |
Het |
Kif20b |
T |
C |
19: 34,915,660 (GRCm39) |
V479A |
possibly damaging |
Het |
Megf8 |
T |
A |
7: 25,037,799 (GRCm39) |
W772R |
probably benign |
Het |
Muc6 |
T |
A |
7: 141,217,075 (GRCm39) |
I2533F |
possibly damaging |
Het |
Npas3 |
T |
C |
12: 54,050,343 (GRCm39) |
S258P |
probably damaging |
Het |
Padi3 |
T |
C |
4: 140,523,645 (GRCm39) |
|
probably benign |
Het |
Pmfbp1 |
G |
T |
8: 110,264,625 (GRCm39) |
R897L |
possibly damaging |
Het |
Rims1 |
A |
T |
1: 22,525,701 (GRCm39) |
W407R |
probably damaging |
Het |
Scnn1b |
G |
T |
7: 121,517,259 (GRCm39) |
D632Y |
probably damaging |
Het |
Tas2r123 |
G |
A |
6: 132,824,369 (GRCm39) |
A89T |
probably benign |
Het |
Tbk1 |
T |
C |
10: 121,387,177 (GRCm39) |
E706G |
probably benign |
Het |
Thra |
A |
G |
11: 98,653,754 (GRCm39) |
D195G |
possibly damaging |
Het |
Tpp2 |
T |
A |
1: 43,973,347 (GRCm39) |
Y33* |
probably null |
Het |
Usp6nl |
T |
A |
2: 6,429,198 (GRCm39) |
M220K |
probably damaging |
Het |
Vmn2r112 |
C |
T |
17: 22,837,885 (GRCm39) |
T782I |
probably damaging |
Het |
Zbtb43 |
T |
C |
2: 33,343,771 (GRCm39) |
T485A |
probably benign |
Het |
Zfat |
T |
C |
15: 68,042,015 (GRCm39) |
I840V |
possibly damaging |
Het |
|
Other mutations in Frmd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL03248:Frmd3
|
APN |
4 |
74,046,455 (GRCm39) |
missense |
possibly damaging |
0.71 |
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 |
2013-06-28 |