Incidental Mutation 'R8302:Frmd5'
| ID |
646434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmd5
|
| Ensembl Gene |
ENSMUSG00000027238 |
| Gene Name |
FERM domain containing 5 |
| Synonyms |
1500032A09Rik, A930004K21Rik |
| MMRRC Submission |
067790-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8302 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
121376010-121637568 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121378060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 435
(T435S)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028676]
[ENSMUST00000110592]
[ENSMUST00000110593]
[ENSMUST00000110602]
[ENSMUST00000110603]
[ENSMUST00000121219]
[ENSMUST00000128428]
[ENSMUST00000138157]
[ENSMUST00000155570]
[ENSMUST00000212518]
|
| AlphaFold |
Q6P5H6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028676
|
| SMART Domains |
Protein: ENSMUSP00000028676
Gene: ENSMUSG00000027242
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
154 |
N/A |
INTRINSIC |
|
WD40
|
205 |
244 |
8.59e-1 |
SMART |
|
WD40
|
249 |
289 |
1.63e-4 |
SMART |
|
WD40
|
292 |
331 |
1.98e1 |
SMART |
|
WD40
|
336 |
375 |
4.75e1 |
SMART |
|
WD40
|
383 |
423 |
9.24e-4 |
SMART |
|
low complexity region
|
424 |
435 |
N/A |
INTRINSIC |
|
WD40
|
479 |
520 |
2.28e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110592
|
| SMART Domains |
Protein: ENSMUSP00000106222
Gene: ENSMUSG00000027238
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106223
Gene: ENSMUSG00000027238
| 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: ENSMUST00000110602
|
| SMART Domains |
Protein: ENSMUSP00000106232
Gene: ENSMUSG00000027242
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
154 |
N/A |
INTRINSIC |
|
WD40
|
205 |
244 |
8.59e-1 |
SMART |
|
WD40
|
249 |
289 |
1.63e-4 |
SMART |
|
WD40
|
292 |
331 |
1.98e1 |
SMART |
|
WD40
|
336 |
375 |
4.75e1 |
SMART |
|
WD40
|
383 |
423 |
9.24e-4 |
SMART |
|
low complexity region
|
424 |
435 |
N/A |
INTRINSIC |
|
WD40
|
479 |
520 |
2.28e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110603
|
| SMART Domains |
Protein: ENSMUSP00000106234
Gene: ENSMUSG00000027242
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
252 |
N/A |
INTRINSIC |
|
WD40
|
303 |
342 |
8.59e-1 |
SMART |
|
WD40
|
347 |
387 |
1.63e-4 |
SMART |
|
WD40
|
390 |
429 |
1.98e1 |
SMART |
|
WD40
|
434 |
473 |
4.75e1 |
SMART |
|
WD40
|
481 |
521 |
9.24e-4 |
SMART |
|
low complexity region
|
522 |
533 |
N/A |
INTRINSIC |
|
WD40
|
577 |
618 |
2.28e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121219
|
| SMART Domains |
Protein: ENSMUSP00000113568
Gene: ENSMUSG00000027238
| 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: ENSMUST00000133898
AA Change: T435S
|
| SMART Domains |
Protein: ENSMUSP00000118269
Gene: ENSMUSG00000027238
AA Change: T435S
| 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: ENSMUST00000131092
|
| SMART Domains |
Protein: ENSMUSP00000118272
Gene: ENSMUSG00000027238
| Domain | Start | End | E-Value | Type |
|---|
|
FA
|
2 |
45 |
2.55e-9 |
SMART |
|
low complexity region
|
143 |
165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138157
|
| SMART Domains |
Protein: ENSMUSP00000115136
Gene: ENSMUSG00000027238
| 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
|
| SMART Domains |
Protein: ENSMUSP00000120176
Gene: ENSMUSG00000027238
| 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 |
probably benign
Transcript: ENSMUST00000212518
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
T |
11: 109,853,406 (GRCm39) |
|
probably null |
Het |
| Ank3 |
T |
C |
10: 69,840,810 (GRCm39) |
S1937P |
possibly damaging |
Het |
| Atg5 |
T |
A |
10: 44,162,115 (GRCm39) |
D10E |
probably benign |
Het |
| Car12 |
A |
G |
9: 66,654,879 (GRCm39) |
D103G |
probably benign |
Het |
| Cpa3 |
A |
G |
3: 20,276,316 (GRCm39) |
Y306H |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,796,066 (GRCm39) |
V104A |
probably damaging |
Het |
| Cyp2c66 |
A |
T |
19: 39,165,078 (GRCm39) |
H353L |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,256,021 (GRCm39) |
|
probably null |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Exph5 |
A |
G |
9: 53,287,776 (GRCm39) |
E1619G |
possibly damaging |
Het |
| Gm3371 |
T |
C |
14: 44,641,181 (GRCm39) |
R128G |
|
Het |
| Gper1 |
A |
G |
5: 139,412,030 (GRCm39) |
D125G |
probably benign |
Het |
| Il17re |
C |
A |
6: 113,443,280 (GRCm39) |
S340* |
probably null |
Het |
| Kazald1 |
T |
A |
19: 45,065,278 (GRCm39) |
L53Q |
probably damaging |
Het |
| Kdm3b |
A |
T |
18: 34,967,388 (GRCm39) |
H1731L |
probably damaging |
Het |
| Kif20a |
T |
C |
18: 34,765,030 (GRCm39) |
S755P |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 75,032,772 (GRCm39) |
N526S |
probably benign |
Het |
| Map3k8 |
T |
C |
18: 4,334,064 (GRCm39) |
I343V |
probably damaging |
Het |
| Nabp1 |
A |
T |
1: 51,511,498 (GRCm39) |
F140L |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,224,681 (GRCm39) |
S860P |
probably benign |
Het |
| Ndufaf5 |
T |
A |
2: 140,030,698 (GRCm39) |
Y195N |
possibly damaging |
Het |
| Nsfl1c |
T |
C |
2: 151,346,056 (GRCm39) |
L157P |
probably damaging |
Het |
| Or2aj5 |
T |
A |
16: 19,425,116 (GRCm39) |
I100L |
probably benign |
Het |
| Or4c104 |
T |
A |
2: 88,586,987 (GRCm39) |
I11F |
possibly damaging |
Het |
| Or5ak24 |
T |
A |
2: 85,260,430 (GRCm39) |
T248S |
possibly damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,335,933 (GRCm39) |
Y749C |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,974,163 (GRCm39) |
K93I |
probably damaging |
Het |
| Plpbp |
T |
C |
8: 27,539,216 (GRCm39) |
S109P |
|
Het |
| Prkdc |
G |
A |
16: 15,653,946 (GRCm39) |
R3901H |
probably damaging |
Het |
| Psma6 |
A |
T |
12: 55,456,966 (GRCm39) |
Y103F |
probably benign |
Het |
| Ptpn3 |
A |
G |
4: 57,218,514 (GRCm39) |
F650L |
probably benign |
Het |
| Pxk |
T |
C |
14: 8,164,094 (GRCm38) |
F562S |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,812,073 (GRCm39) |
D214G |
probably damaging |
Het |
| Rgs17 |
C |
T |
10: 5,812,525 (GRCm39) |
C58Y |
possibly damaging |
Het |
| Rnf6 |
A |
T |
5: 146,148,334 (GRCm39) |
V228E |
probably benign |
Het |
| Sardh |
T |
C |
2: 27,105,122 (GRCm39) |
D667G |
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,032,209 (GRCm39) |
V620D |
probably damaging |
Het |
| Slc39a7 |
A |
G |
17: 34,249,686 (GRCm39) |
I153T |
probably damaging |
Het |
| Slc5a11 |
T |
C |
7: 122,847,162 (GRCm39) |
V125A |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,368,058 (GRCm39) |
F216L |
probably benign |
Het |
| Strip1 |
A |
T |
3: 107,533,024 (GRCm39) |
I208N |
probably damaging |
Het |
| Top1 |
T |
C |
2: 160,545,496 (GRCm39) |
M288T |
probably damaging |
Het |
| Tpbgl |
G |
T |
7: 99,274,774 (GRCm39) |
A361E |
probably damaging |
Het |
| Trmt2a |
T |
C |
16: 18,067,813 (GRCm39) |
V162A |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,078,110 (GRCm39) |
I1167T |
probably benign |
Het |
| Wdr76 |
C |
A |
2: 121,341,044 (GRCm39) |
H30N |
probably benign |
Het |
| Zan |
A |
G |
5: 137,407,923 (GRCm39) |
S3624P |
unknown |
Het |
| Zc3h7a |
T |
C |
16: 10,955,249 (GRCm39) |
K942E |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,893 (GRCm39) |
V722A |
possibly damaging |
Het |
| Zfp943 |
A |
G |
17: 22,211,091 (GRCm39) |
H59R |
probably benign |
Het |
|
| Other mutations in Frmd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03025:Frmd5
|
APN |
2 |
121,383,825 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAGGCTTAGGGACTGCAG -3'
(R):5'- TGTGCTGAGTCACACGAGAG -3'
Sequencing Primer
(F):5'- CTTAGGGACTGCAGCTCGTG -3'
(R):5'- TCACACGAGAGCCTGCAGAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation