Incidental Mutation 'R5095:Frmd5'
ID |
395804 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Frmd5
|
Ensembl Gene |
ENSMUSG00000027238 |
Gene Name |
FERM domain containing 5 |
Synonyms |
1500032A09Rik, A930004K21Rik |
MMRRC Submission |
042684-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5095 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
121376010-121637568 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121379402 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 394
(C394S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110592]
[ENSMUST00000110593]
[ENSMUST00000110602]
[ENSMUST00000121219]
[ENSMUST00000128428]
[ENSMUST00000138157]
[ENSMUST00000155570]
[ENSMUST00000212518]
|
AlphaFold |
Q6P5H6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000110592
AA Change: C483S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000106222 Gene: ENSMUSG00000027238 AA Change: C483S
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: C475S
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000106223 Gene: ENSMUSG00000027238 AA Change: C475S
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 |
possibly damaging
Transcript: ENSMUST00000121219
AA Change: C394S
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113568 Gene: ENSMUSG00000027238 AA Change: C394S
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: C173S
|
SMART Domains |
Protein: ENSMUSP00000118272 Gene: ENSMUSG00000027238 AA Change: C173S
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: C401S
|
SMART Domains |
Protein: ENSMUSP00000118269 Gene: ENSMUSG00000027238 AA Change: C401S
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: C483S
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000115136 Gene: ENSMUSG00000027238 AA Change: C483S
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: C475S
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000120176 Gene: ENSMUSG00000027238 AA Change: C475S
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 |
possibly damaging
Transcript: ENSMUST00000212518
AA Change: C169S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153932
|
Meta Mutation Damage Score |
0.0945 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700021A07Rik |
G |
C |
10: 21,301,492 (GRCm39) |
|
noncoding transcript |
Het |
Adgrv1 |
C |
T |
13: 81,243,606 (GRCm39) |
V6265I |
probably benign |
Het |
Agbl1 |
G |
A |
7: 76,369,881 (GRCm39) |
G660D |
probably damaging |
Het |
Arap2 |
A |
G |
5: 62,811,392 (GRCm39) |
Y1140H |
probably damaging |
Het |
Atp6v1c1 |
T |
C |
15: 38,679,657 (GRCm39) |
|
probably null |
Het |
C1rb |
A |
T |
6: 124,557,272 (GRCm39) |
R470W |
possibly damaging |
Het |
Caskin2 |
T |
C |
11: 115,691,564 (GRCm39) |
T1074A |
probably benign |
Het |
Cdh19 |
T |
A |
1: 110,882,391 (GRCm39) |
T34S |
probably benign |
Het |
Csnk1a1 |
T |
A |
18: 61,708,547 (GRCm39) |
Y175N |
probably damaging |
Het |
F2 |
CAGAAAG |
CAG |
2: 91,465,302 (GRCm39) |
|
probably benign |
Het |
Flt4 |
T |
A |
11: 49,517,986 (GRCm39) |
V342D |
possibly damaging |
Het |
Gm5414 |
T |
G |
15: 101,532,473 (GRCm39) |
N550T |
probably benign |
Het |
Hcn3 |
C |
A |
3: 89,057,230 (GRCm39) |
R456L |
probably damaging |
Het |
Htt |
T |
C |
5: 34,981,739 (GRCm39) |
V893A |
possibly damaging |
Het |
Ift46 |
A |
G |
9: 44,698,146 (GRCm39) |
D203G |
probably damaging |
Het |
Itga10 |
G |
T |
3: 96,555,480 (GRCm39) |
V145L |
probably benign |
Het |
Kcnh6 |
A |
G |
11: 105,908,080 (GRCm39) |
D232G |
possibly damaging |
Het |
Mbtd1 |
T |
C |
11: 93,820,497 (GRCm39) |
S431P |
probably damaging |
Het |
Mmp27 |
T |
A |
9: 7,572,159 (GRCm39) |
W120R |
probably damaging |
Het |
Mmp27 |
A |
T |
9: 7,579,001 (GRCm39) |
D418V |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,059,302 (GRCm39) |
D510G |
probably damaging |
Het |
Myo5a |
A |
T |
9: 75,091,671 (GRCm39) |
K1179* |
probably null |
Het |
Neto1 |
T |
C |
18: 86,416,406 (GRCm39) |
S38P |
probably benign |
Het |
Nos3 |
A |
G |
5: 24,573,916 (GRCm39) |
|
probably benign |
Het |
Nuggc |
C |
T |
14: 65,872,539 (GRCm39) |
R512* |
probably null |
Het |
Oas1e |
T |
A |
5: 120,932,329 (GRCm39) |
K105* |
probably null |
Het |
Omd |
T |
A |
13: 49,743,174 (GRCm39) |
S75T |
possibly damaging |
Het |
Or10a3m |
T |
C |
7: 108,313,019 (GRCm39) |
F141S |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Pbrm1 |
A |
G |
14: 30,754,487 (GRCm39) |
N190S |
probably benign |
Het |
Picalm |
T |
C |
7: 89,819,841 (GRCm39) |
F85L |
probably damaging |
Het |
Polg |
A |
G |
7: 79,110,048 (GRCm39) |
V360A |
possibly damaging |
Het |
Prex1 |
T |
C |
2: 166,423,841 (GRCm39) |
D1017G |
probably damaging |
Het |
Prss56 |
G |
C |
1: 87,115,833 (GRCm39) |
R569P |
probably damaging |
Het |
Rab6b |
G |
A |
9: 103,017,583 (GRCm39) |
G25R |
probably damaging |
Het |
Rdh10 |
A |
G |
1: 16,201,609 (GRCm39) |
T332A |
probably benign |
Het |
Rheb |
A |
T |
5: 25,012,639 (GRCm39) |
M115K |
probably benign |
Het |
Rnf149 |
A |
T |
1: 39,594,737 (GRCm39) |
D321E |
probably benign |
Het |
Rps28 |
C |
T |
17: 34,042,177 (GRCm39) |
|
probably null |
Het |
Slc6a20b |
A |
G |
9: 123,424,119 (GRCm39) |
V616A |
probably benign |
Het |
Smarcc2 |
A |
G |
10: 128,305,169 (GRCm39) |
K300R |
probably damaging |
Het |
Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
Spata31h1 |
G |
T |
10: 82,119,501 (GRCm39) |
A4503E |
probably damaging |
Het |
Srp68 |
C |
T |
11: 116,139,573 (GRCm39) |
V459M |
probably damaging |
Het |
Stxbp4 |
C |
T |
11: 90,439,801 (GRCm39) |
V346I |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,999,600 (GRCm39) |
D2331G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,564,536 (GRCm39) |
Y28534N |
probably damaging |
Het |
Usp44 |
A |
T |
10: 93,682,707 (GRCm39) |
I386F |
possibly damaging |
Het |
Vmn2r15 |
T |
C |
5: 109,436,317 (GRCm39) |
|
probably null |
Het |
Vmn2r72 |
T |
A |
7: 85,387,061 (GRCm39) |
L834F |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,923,348 (GRCm39) |
I3741K |
probably damaging |
Het |
Zdbf2 |
A |
G |
1: 63,348,232 (GRCm39) |
T2204A |
possibly damaging |
Het |
Zfp607b |
T |
A |
7: 27,393,061 (GRCm39) |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGAATTGTTCAAACTCGGGG -3'
(R):5'- GCAATGAACGTGTCGCTGTG -3'
Sequencing Primer
(F):5'- TTCAAACTCGGGGGTCTGGC -3'
(R):5'- CTGTGATAGCGGATGAGGCCTAC -3'
|
Posted On |
2016-06-21 |