Incidental Mutation 'IGL03025:Frmd5'
| ID |
408119 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Frmd5
|
| Ensembl Gene |
ENSMUSG00000027238 |
| Gene Name |
FERM domain containing 5 |
| Synonyms |
1500032A09Rik, A930004K21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03025
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
121376010-121637568 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121383825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 369
(M369L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110592]
[ENSMUST00000110593]
[ENSMUST00000121219]
[ENSMUST00000128428]
[ENSMUST00000138157]
[ENSMUST00000155570]
[ENSMUST00000212518]
|
| AlphaFold |
Q6P5H6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110592
AA Change: M377L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106222
Gene: ENSMUSG00000027238
AA Change: M377L
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
13 |
210 |
2.23e-61 |
SMART |
|
FERM_C
|
214 |
302 |
6.86e-24 |
SMART |
|
FA
|
308 |
354 |
1.45e-13 |
SMART |
|
low complexity region
|
452 |
474 |
N/A |
INTRINSIC |
|
transmembrane domain
|
501 |
523 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110593
AA Change: M369L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106223
Gene: ENSMUSG00000027238
AA Change: M369L
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
2 |
202 |
4.13e-56 |
SMART |
|
FERM_C
|
206 |
294 |
6.86e-24 |
SMART |
|
FA
|
300 |
346 |
1.45e-13 |
SMART |
|
low complexity region
|
444 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
504 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121219
AA Change: M288L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113568
Gene: ENSMUSG00000027238
AA Change: M288L
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
1 |
121 |
1.92e-4 |
SMART |
|
FERM_C
|
125 |
213 |
6.86e-24 |
SMART |
|
FA
|
219 |
265 |
1.45e-13 |
SMART |
|
low complexity region
|
363 |
385 |
N/A |
INTRINSIC |
|
transmembrane domain
|
412 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128428
|
| SMART Domains |
Protein: ENSMUSP00000116468
Gene: ENSMUSG00000027238
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
13 |
202 |
3.21e-44 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131092
AA Change: M67L
|
| SMART Domains |
Protein: ENSMUSP00000118272
Gene: ENSMUSG00000027238
AA Change: M67L
| Domain | Start | End | E-Value | Type |
|---|
|
FA
|
2 |
45 |
2.55e-9 |
SMART |
|
low complexity region
|
143 |
165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000133898
AA Change: M295L
|
| SMART Domains |
Protein: ENSMUSP00000118269
Gene: ENSMUSG00000027238
AA Change: M295L
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
1 |
129 |
8.68e-9 |
SMART |
|
FERM_C
|
133 |
221 |
6.86e-24 |
SMART |
|
FA
|
227 |
273 |
1.45e-13 |
SMART |
|
low complexity region
|
371 |
393 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138157
AA Change: M377L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115136
Gene: ENSMUSG00000027238
AA Change: M377L
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
13 |
210 |
2.23e-61 |
SMART |
|
FERM_C
|
214 |
302 |
6.86e-24 |
SMART |
|
FA
|
308 |
354 |
1.45e-13 |
SMART |
|
low complexity region
|
452 |
474 |
N/A |
INTRINSIC |
|
low complexity region
|
497 |
512 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155570
AA Change: M369L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120176
Gene: ENSMUSG00000027238
AA Change: M369L
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
2 |
202 |
4.13e-56 |
SMART |
|
FERM_C
|
206 |
294 |
6.86e-24 |
SMART |
|
FA
|
300 |
346 |
1.45e-13 |
SMART |
|
low complexity region
|
444 |
466 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212518
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,315,405 (GRCm39) |
N91S |
possibly damaging |
Het |
| Adora1 |
T |
C |
1: 134,130,807 (GRCm39) |
Y288C |
probably damaging |
Het |
| Avil |
A |
T |
10: 126,849,446 (GRCm39) |
T581S |
probably benign |
Het |
| Cacna1h |
C |
T |
17: 25,651,868 (GRCm39) |
W92* |
probably null |
Het |
| Calr3 |
A |
C |
8: 73,188,735 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
T |
C |
2: 120,561,222 (GRCm39) |
E181G |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,663,079 (GRCm39) |
N590S |
probably benign |
Het |
| Cnga1 |
T |
A |
5: 72,762,756 (GRCm39) |
I253F |
probably benign |
Het |
| Cngb3 |
T |
G |
4: 19,283,498 (GRCm39) |
|
probably benign |
Het |
| Cstf3 |
T |
A |
2: 104,439,276 (GRCm39) |
Y30N |
possibly damaging |
Het |
| Cyp2a12 |
T |
A |
7: 26,730,631 (GRCm39) |
S199T |
probably benign |
Het |
| Dlg1 |
A |
G |
16: 31,624,545 (GRCm39) |
I412V |
probably benign |
Het |
| Fasn |
C |
T |
11: 120,708,974 (GRCm39) |
V570M |
probably benign |
Het |
| Fhit |
A |
G |
14: 10,421,534 (GRCm38) |
S85P |
probably damaging |
Het |
| Ftdc2 |
A |
C |
16: 58,458,076 (GRCm39) |
I75S |
probably damaging |
Het |
| Gatb |
T |
C |
3: 85,483,181 (GRCm39) |
W63R |
probably damaging |
Het |
| Gga1 |
G |
T |
15: 78,772,382 (GRCm39) |
L227F |
probably damaging |
Het |
| Itgb1 |
A |
G |
8: 129,449,065 (GRCm39) |
N557S |
possibly damaging |
Het |
| Ltf |
T |
C |
9: 110,854,169 (GRCm39) |
V328A |
possibly damaging |
Het |
| Nefh |
T |
C |
11: 4,895,289 (GRCm39) |
E300G |
probably damaging |
Het |
| Nrip1 |
A |
G |
16: 76,091,353 (GRCm39) |
V68A |
probably benign |
Het |
| Or1m1 |
T |
C |
9: 18,666,665 (GRCm39) |
N89D |
probably benign |
Het |
| Pcdhb13 |
T |
G |
18: 37,575,817 (GRCm39) |
V65G |
probably damaging |
Het |
| Pcdhb4 |
A |
T |
18: 37,443,030 (GRCm39) |
Y780F |
possibly damaging |
Het |
| Plcd3 |
C |
T |
11: 102,965,724 (GRCm39) |
E503K |
probably benign |
Het |
| Rbm6 |
T |
A |
9: 107,651,918 (GRCm39) |
D903V |
possibly damaging |
Het |
| Rnf133 |
A |
G |
6: 23,649,134 (GRCm39) |
M265T |
probably benign |
Het |
| Sbf1 |
T |
C |
15: 89,173,848 (GRCm39) |
T1775A |
probably damaging |
Het |
| Serpina1f |
T |
A |
12: 103,659,805 (GRCm39) |
D159V |
probably damaging |
Het |
| Skap1 |
C |
A |
11: 96,593,508 (GRCm39) |
S118R |
probably damaging |
Het |
| Slc17a9 |
C |
A |
2: 180,381,609 (GRCm39) |
|
probably null |
Het |
| Slc30a5 |
A |
G |
13: 100,950,395 (GRCm39) |
S231P |
probably damaging |
Het |
| Stac2 |
A |
G |
11: 97,934,548 (GRCm39) |
F52S |
probably damaging |
Het |
| Them7 |
T |
C |
2: 105,128,150 (GRCm39) |
S44P |
probably benign |
Het |
| Tnmd |
A |
G |
X: 132,766,162 (GRCm39) |
|
probably benign |
Het |
| Trdmt1 |
A |
T |
2: 13,528,246 (GRCm39) |
I105N |
probably damaging |
Het |
| Trpc1 |
C |
T |
9: 95,592,313 (GRCm39) |
G554E |
probably damaging |
Het |
| Vmn1r37 |
A |
G |
6: 66,708,740 (GRCm39) |
Y85C |
probably benign |
Het |
| Zim1 |
T |
C |
7: 6,685,058 (GRCm39) |
T131A |
probably benign |
Het |
|
| Other mutations in Frmd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
big_rip
|
UTSW |
2 |
121,379,699 (GRCm39) |
nonsense |
probably null |
|
|
PIT4812001:Frmd5
|
UTSW |
2 |
121,416,927 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0385:Frmd5
|
UTSW |
2 |
121,386,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1667:Frmd5
|
UTSW |
2 |
121,379,211 (GRCm39) |
frame shift |
probably null |
|
|
R4243:Frmd5
|
UTSW |
2 |
121,393,363 (GRCm39) |
splice site |
probably null |
|
|
R4590:Frmd5
|
UTSW |
2 |
121,595,512 (GRCm39) |
splice site |
probably null |
|
|
R4705:Frmd5
|
UTSW |
2 |
121,393,344 (GRCm39) |
intron |
probably benign |
|
|
R4909:Frmd5
|
UTSW |
2 |
121,422,134 (GRCm39) |
splice site |
probably null |
|
|
R4935:Frmd5
|
UTSW |
2 |
121,393,405 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5008:Frmd5
|
UTSW |
2 |
121,379,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5095:Frmd5
|
UTSW |
2 |
121,379,402 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5431:Frmd5
|
UTSW |
2 |
121,393,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5875:Frmd5
|
UTSW |
2 |
121,388,959 (GRCm39) |
intron |
probably benign |
|
|
R6246:Frmd5
|
UTSW |
2 |
121,381,529 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6404:Frmd5
|
UTSW |
2 |
121,379,699 (GRCm39) |
nonsense |
probably null |
|
|
R7039:Frmd5
|
UTSW |
2 |
121,378,128 (GRCm39) |
unclassified |
probably benign |
|
|
R7072:Frmd5
|
UTSW |
2 |
121,388,351 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7520:Frmd5
|
UTSW |
2 |
121,384,745 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7804:Frmd5
|
UTSW |
2 |
121,422,225 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8302:Frmd5
|
UTSW |
2 |
121,378,060 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation