Incidental Mutation 'R3898:Frmd3'
| ID |
309044 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmd3
|
| Ensembl Gene |
ENSMUSG00000049122 |
| Gene Name |
FERM domain containing 3 |
| Synonyms |
4.1O, EPB41L4O, 9430066I12Rik, P410 |
| MMRRC Submission |
040906-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.300)
|
| Stock # |
R3898 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
73931679-74120451 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73992346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 71
(D71G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084474]
[ENSMUST00000098006]
|
| AlphaFold |
Q8BHD4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084474
AA Change: D71G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081514
Gene: ENSMUSG00000049122
AA Change: D71G
| 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 |
probably damaging
Transcript: ENSMUST00000098006
AA Change: D71G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095615
Gene: ENSMUSG00000049122
AA Change: D71G
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg1 |
A |
C |
16: 5,054,253 (GRCm39) |
I154L |
possibly damaging |
Het |
| Ankra2 |
C |
T |
13: 98,410,317 (GRCm39) |
L136F |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,488,973 (GRCm39) |
S372P |
probably benign |
Het |
| Cabyr |
T |
C |
18: 12,884,580 (GRCm39) |
S356P |
probably benign |
Het |
| Cad |
G |
T |
5: 31,231,366 (GRCm39) |
C1633F |
probably benign |
Het |
| Cadps2 |
G |
A |
6: 23,528,125 (GRCm39) |
R425W |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,912,799 (GRCm39) |
K593E |
possibly damaging |
Het |
| Cdh8 |
T |
A |
8: 99,898,005 (GRCm39) |
E436V |
probably damaging |
Het |
| Cfap95 |
A |
G |
19: 23,570,466 (GRCm39) |
V101A |
probably benign |
Het |
| Cln6 |
T |
G |
9: 62,757,934 (GRCm39) |
F231C |
probably damaging |
Het |
| Cul2 |
A |
G |
18: 3,434,033 (GRCm39) |
K677E |
probably benign |
Het |
| Cyp2c69 |
T |
C |
19: 39,864,834 (GRCm39) |
I215V |
probably benign |
Het |
| Dhx36 |
T |
C |
3: 62,399,790 (GRCm39) |
D393G |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,282,417 (GRCm39) |
V2850A |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Drg2 |
T |
A |
11: 60,347,460 (GRCm39) |
S50T |
probably benign |
Het |
| Ecscr |
A |
G |
18: 35,846,705 (GRCm39) |
S230P |
possibly damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,261,404 (GRCm39) |
V527A |
probably damaging |
Het |
| Elfn1 |
G |
A |
5: 139,957,719 (GRCm39) |
R241H |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,841,006 (GRCm39) |
K172E |
possibly damaging |
Het |
| Fli1 |
C |
T |
9: 32,388,018 (GRCm39) |
G24R |
possibly damaging |
Het |
| Ggnbp1 |
A |
G |
17: 27,244,312 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
T |
C |
2: 127,277,018 (GRCm39) |
F713S |
probably damaging |
Het |
| H2-Q2 |
C |
T |
17: 35,561,743 (GRCm39) |
P78S |
probably damaging |
Het |
| Kcnq2 |
C |
T |
2: 180,751,479 (GRCm39) |
A306T |
probably damaging |
Het |
| Lmntd1 |
G |
A |
6: 145,359,152 (GRCm39) |
P333S |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,427,969 (GRCm39) |
R535* |
probably null |
Het |
| Mmrn2 |
G |
T |
14: 34,121,517 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
G |
A |
11: 71,013,700 (GRCm39) |
P517S |
probably benign |
Het |
| Or2y13 |
A |
T |
11: 49,415,386 (GRCm39) |
I279F |
probably damaging |
Het |
| Pou4f1 |
T |
C |
14: 104,703,165 (GRCm39) |
*422W |
probably null |
Het |
| Ptpn14 |
C |
T |
1: 189,582,728 (GRCm39) |
P525L |
probably benign |
Het |
| Pyroxd2 |
C |
A |
19: 42,728,831 (GRCm39) |
G190C |
probably damaging |
Het |
| Rd3 |
T |
C |
1: 191,717,217 (GRCm39) |
V114A |
probably damaging |
Het |
| Sptbn5 |
T |
C |
2: 119,887,691 (GRCm39) |
|
noncoding transcript |
Het |
| Tbc1d5 |
A |
T |
17: 51,270,772 (GRCm39) |
F153Y |
probably damaging |
Het |
| Thop1 |
G |
A |
10: 80,916,278 (GRCm39) |
G429S |
probably damaging |
Het |
| Trim30d |
T |
A |
7: 104,132,736 (GRCm39) |
I184L |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,997,983 (GRCm39) |
S1727G |
probably benign |
Het |
| Vezf1 |
T |
C |
11: 87,966,999 (GRCm39) |
F77L |
probably benign |
Het |
| Vmn2r12 |
C |
T |
5: 109,238,370 (GRCm39) |
A457T |
probably benign |
Het |
| Xirp1 |
A |
T |
9: 119,848,406 (GRCm39) |
M159K |
probably benign |
Het |
| Zkscan17 |
C |
T |
11: 59,394,263 (GRCm39) |
A113T |
probably damaging |
Het |
| Zyg11a |
T |
A |
4: 108,067,391 (GRCm39) |
N40Y |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCAATATTTGAAGTAACCAAACC -3'
(R):5'- ATGTGAGCCCAGCATTCCG -3'
Sequencing Primer
(F):5'- CCATTATTCTAAACACAGATCCAGC -3'
(R):5'- CCAGCATTCCGAGAAAGACTTTTTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation