Incidental Mutation 'R1411:Frmd3'
| ID |
200792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmd3
|
| Ensembl Gene |
ENSMUSG00000049122 |
| Gene Name |
FERM domain containing 3 |
| Synonyms |
4.1O, EPB41L4O, 9430066I12Rik, P410 |
| MMRRC Submission |
039467-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.300)
|
| Stock # |
R1411 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
73931679-74120451 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74071858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 247
(F247L)
|
| 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: F247L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081514
Gene: ENSMUSG00000049122
AA Change: F247L
| 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: F247L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095615
Gene: ENSMUSG00000049122
AA Change: F247L
| 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 |
|
| Meta Mutation Damage Score |
0.2659 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| Validation Efficiency |
100% (46/46) |
| 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 |
|---|
| Abhd8 |
T |
A |
8: 71,914,374 (GRCm39) |
I85F |
probably damaging |
Het |
| Acp4 |
A |
G |
7: 43,906,267 (GRCm39) |
|
probably benign |
Het |
| Baz1b |
T |
C |
5: 135,259,177 (GRCm39) |
F1080L |
possibly damaging |
Het |
| Cbx5 |
A |
T |
15: 103,121,547 (GRCm39) |
M30K |
probably benign |
Het |
| Cdc73 |
A |
G |
1: 143,485,252 (GRCm39) |
|
probably benign |
Het |
| Cdcp1 |
A |
T |
9: 123,019,177 (GRCm39) |
L34Q |
probably damaging |
Het |
| Chd8 |
C |
T |
14: 52,462,103 (GRCm39) |
V738I |
probably benign |
Het |
| Cpeb2 |
T |
G |
5: 43,391,113 (GRCm39) |
|
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,627,035 (GRCm39) |
D265V |
probably damaging |
Het |
| Cyp2j11 |
A |
G |
4: 96,233,453 (GRCm39) |
I81T |
probably benign |
Het |
| Dbx2 |
T |
C |
15: 95,530,262 (GRCm39) |
E235G |
probably damaging |
Het |
| Dgkq |
C |
A |
5: 108,798,228 (GRCm39) |
V677F |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,217,441 (GRCm39) |
N928S |
probably damaging |
Het |
| Flt1 |
C |
T |
5: 147,517,126 (GRCm39) |
V1054M |
probably damaging |
Het |
| Flywch1 |
T |
C |
17: 23,974,798 (GRCm39) |
D614G |
probably damaging |
Het |
| Gm1527 |
A |
G |
3: 28,968,632 (GRCm39) |
N228S |
probably benign |
Het |
| Gpld1 |
T |
A |
13: 25,146,791 (GRCm39) |
L251Q |
probably damaging |
Het |
| Gvin-ps3 |
C |
T |
7: 105,682,686 (GRCm39) |
A190T |
probably benign |
Het |
| Gzma |
C |
T |
13: 113,232,742 (GRCm39) |
V117I |
probably benign |
Het |
| Hydin |
C |
A |
8: 111,301,663 (GRCm39) |
T3798K |
probably benign |
Het |
| Il1rapl1 |
T |
A |
X: 85,790,904 (GRCm39) |
S679C |
possibly damaging |
Het |
| Lrrc8c |
G |
A |
5: 105,756,045 (GRCm39) |
A607T |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Mfsd4b4 |
A |
T |
10: 39,768,136 (GRCm39) |
M319K |
probably damaging |
Het |
| Mroh2b |
A |
C |
15: 4,947,799 (GRCm39) |
H538P |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nup188 |
A |
G |
2: 30,233,807 (GRCm39) |
T1733A |
probably benign |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Ofcc1 |
A |
G |
13: 40,296,263 (GRCm39) |
S524P |
probably benign |
Het |
| Or6x1 |
C |
T |
9: 40,098,435 (GRCm39) |
T8I |
possibly damaging |
Het |
| Padi4 |
C |
T |
4: 140,479,914 (GRCm39) |
S413N |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,668,894 (GRCm39) |
*1015W |
probably null |
Het |
| Pkhd1 |
G |
A |
1: 20,444,120 (GRCm39) |
P2314L |
probably damaging |
Het |
| Serpinb9c |
C |
G |
13: 33,335,817 (GRCm39) |
V212L |
probably benign |
Het |
| Slc25a23 |
A |
G |
17: 57,366,622 (GRCm39) |
F18L |
probably damaging |
Het |
| Smarca4 |
C |
A |
9: 21,570,251 (GRCm39) |
N751K |
probably damaging |
Het |
| Tfip11 |
G |
T |
5: 112,480,899 (GRCm39) |
V292L |
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,751,702 (GRCm39) |
K1201R |
unknown |
Het |
| Vmn1r199 |
T |
C |
13: 22,567,671 (GRCm39) |
F322L |
probably benign |
Het |
| Vmn1r201 |
T |
C |
13: 22,658,849 (GRCm39) |
V21A |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,107 (GRCm39) |
I699K |
probably damaging |
Het |
| Vmn2r117 |
T |
C |
17: 23,679,527 (GRCm39) |
N566D |
probably damaging |
Het |
| Wdr12 |
A |
T |
1: 60,127,231 (GRCm39) |
D141E |
probably benign |
Het |
| Zfp974 |
A |
G |
7: 27,610,634 (GRCm39) |
S364P |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCTTGATTCAAATTAGCCCACG -3'
(R):5'- CGCTCAGGTGAATCCCACTCACTC -3'
Sequencing Primer
(F):5'- TTCAAATTAGCCCACGATGAAGG -3'
(R):5'- AACTACCTGAAAGTTTCAGAAAGAAA -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation