Incidental Mutation 'R6616:Frmd3'
| ID |
524040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmd3
|
| Ensembl Gene |
ENSMUSG00000049122 |
| Gene Name |
FERM domain containing 3 |
| Synonyms |
4.1O, EPB41L4O, 9430066I12Rik, P410 |
| MMRRC Submission |
044739-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.300)
|
| Stock # |
R6616 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
73931679-74120451 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74105725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 457
(D457V)
|
| 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: D457V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081514
Gene: ENSMUSG00000049122
AA Change: D457V
| 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: D457V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095615
Gene: ENSMUSG00000049122
AA Change: D457V
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154134
|
| Meta Mutation Damage Score |
0.1915 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (51/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
T |
17: 24,603,509 (GRCm39) |
H567L |
probably damaging |
Het |
| Adck1 |
T |
A |
12: 88,427,958 (GRCm39) |
M525K |
unknown |
Het |
| Alpi |
T |
C |
1: 87,028,836 (GRCm39) |
I74V |
possibly damaging |
Het |
| Ccdc168 |
C |
A |
1: 44,100,634 (GRCm39) |
V155L |
possibly damaging |
Het |
| Creb5 |
A |
C |
6: 53,662,295 (GRCm39) |
Q197H |
possibly damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,785,306 (GRCm39) |
K225R |
probably benign |
Het |
| Dock1 |
G |
A |
7: 134,710,221 (GRCm39) |
E1143K |
possibly damaging |
Het |
| Eef2kmt |
T |
A |
16: 5,065,346 (GRCm39) |
D287V |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,285,326 (GRCm39) |
Y1046* |
probably null |
Het |
| Fbxw10 |
T |
A |
11: 62,743,850 (GRCm39) |
M252K |
probably benign |
Het |
| Fnip2 |
A |
C |
3: 79,388,189 (GRCm39) |
H847Q |
probably benign |
Het |
| Gm13941 |
T |
G |
2: 110,931,520 (GRCm39) |
E37D |
unknown |
Het |
| Grin1 |
T |
A |
2: 25,182,122 (GRCm39) |
I870F |
possibly damaging |
Het |
| Grin2b |
A |
C |
6: 135,709,549 (GRCm39) |
D1332E |
probably benign |
Het |
| Gtpbp4 |
G |
A |
13: 9,039,141 (GRCm39) |
T201I |
possibly damaging |
Het |
| Heatr4 |
A |
G |
12: 84,026,904 (GRCm39) |
C118R |
probably benign |
Het |
| Hltf |
T |
A |
3: 20,163,651 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
C |
T |
1: 150,599,008 (GRCm39) |
|
probably null |
Het |
| Hpd |
A |
T |
5: 123,310,123 (GRCm39) |
L367Q |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,514,487 (GRCm39) |
I40T |
probably benign |
Het |
| Il16 |
A |
G |
7: 83,295,684 (GRCm39) |
S464P |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,589,643 (GRCm39) |
D75V |
unknown |
Het |
| Map3k4 |
A |
T |
17: 12,490,231 (GRCm39) |
L400Q |
probably damaging |
Het |
| Mcts2 |
T |
A |
2: 152,529,582 (GRCm39) |
I131N |
possibly damaging |
Het |
| Mroh2b |
A |
C |
15: 4,982,764 (GRCm39) |
I1528L |
probably benign |
Het |
| Muc4 |
A |
C |
16: 32,602,378 (GRCm39) |
D3467A |
possibly damaging |
Het |
| Mypn |
A |
T |
10: 63,005,091 (GRCm39) |
C339S |
probably damaging |
Het |
| Ncoa5 |
A |
T |
2: 164,852,483 (GRCm39) |
Y130* |
probably null |
Het |
| Or11g27 |
T |
A |
14: 50,771,364 (GRCm39) |
I165N |
probably benign |
Het |
| Or2y11 |
T |
A |
11: 49,442,868 (GRCm39) |
V98E |
probably damaging |
Het |
| Pcdha4 |
A |
G |
18: 37,086,953 (GRCm39) |
T379A |
probably benign |
Het |
| Pkp4 |
C |
G |
2: 59,180,896 (GRCm39) |
Y720* |
probably null |
Het |
| Prl5a1 |
C |
T |
13: 28,333,839 (GRCm39) |
T114I |
probably benign |
Het |
| Rnd3 |
A |
G |
2: 51,024,169 (GRCm39) |
S137P |
probably damaging |
Het |
| Rtel1 |
G |
A |
2: 180,994,579 (GRCm39) |
E680K |
possibly damaging |
Het |
| Sbsn |
T |
A |
7: 30,452,704 (GRCm39) |
V573D |
possibly damaging |
Het |
| Scaf8 |
A |
T |
17: 3,218,330 (GRCm39) |
L233F |
unknown |
Het |
| Sec23a |
A |
T |
12: 59,043,941 (GRCm39) |
I241K |
possibly damaging |
Het |
| Secisbp2l |
A |
T |
2: 125,610,146 (GRCm39) |
S258T |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 111,975,427 (GRCm39) |
H121R |
possibly damaging |
Het |
| Sptbn1 |
T |
A |
11: 30,074,030 (GRCm39) |
E1346D |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stpg4 |
A |
G |
17: 87,730,124 (GRCm39) |
Y74H |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,674,057 (GRCm39) |
V374A |
possibly damaging |
Het |
| Unc45b |
G |
A |
11: 82,802,645 (GRCm39) |
R47Q |
probably damaging |
Het |
| Xirp1 |
A |
G |
9: 119,848,080 (GRCm39) |
S268P |
probably damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,715 (GRCm39) |
I238L |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,843,938 (GRCm39) |
D992G |
possibly 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 |
|
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 |
|
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'- AGGTGTCCCACTGCCTAAAATG -3'
(R):5'- CACAAGGAGCCTGGAGAAACTC -3'
Sequencing Primer
(F):5'- CTAAAATGGATGTGTCTGAGCCCC -3'
(R):5'- CCTGGAGAAACTCTTGACCAGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation