Incidental Mutation 'R4243:Frmd5'
ID |
320280 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Frmd5
|
Ensembl Gene |
ENSMUSG00000027238 |
Gene Name |
FERM domain containing 5 |
Synonyms |
1500032A09Rik, A930004K21Rik |
MMRRC Submission |
041643-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4243 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
121376010-121637568 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
C to A
at 121393363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120176
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110592]
[ENSMUST00000110592]
[ENSMUST00000110593]
[ENSMUST00000121219]
[ENSMUST00000128428]
[ENSMUST00000138157]
[ENSMUST00000155570]
|
AlphaFold |
Q6P5H6 |
Predicted Effect |
probably null
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 null
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 null
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 null
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 |
probably null
Transcript: ENSMUST00000133898
|
SMART Domains |
Protein: ENSMUSP00000118269 Gene: ENSMUSG00000027238
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 null
Transcript: ENSMUST00000133898
|
SMART Domains |
Protein: ENSMUSP00000118269 Gene: ENSMUSG00000027238
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000142016
|
Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000153932
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500011B03Rik |
C |
A |
5: 114,951,855 (GRCm39) |
R40L |
possibly damaging |
Het |
4930449A18Rik |
T |
A |
3: 59,733,203 (GRCm39) |
|
noncoding transcript |
Het |
4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
4933409G03Rik |
C |
T |
2: 68,423,887 (GRCm39) |
|
probably benign |
Het |
Actr1b |
T |
C |
1: 36,740,911 (GRCm39) |
Y171C |
possibly damaging |
Het |
Birc2 |
T |
C |
9: 7,834,386 (GRCm39) |
T32A |
probably benign |
Het |
Cdh13 |
T |
A |
8: 119,968,996 (GRCm39) |
V451E |
probably damaging |
Het |
Cdh20 |
C |
T |
1: 104,869,868 (GRCm39) |
T196I |
probably damaging |
Het |
Cdt1 |
A |
G |
8: 123,298,157 (GRCm39) |
M383V |
probably benign |
Het |
Chrna9 |
T |
C |
5: 66,092,379 (GRCm39) |
|
probably null |
Het |
Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
Cspg4 |
T |
C |
9: 56,795,141 (GRCm39) |
S959P |
probably benign |
Het |
Ctbp2 |
A |
G |
7: 132,600,583 (GRCm39) |
I647T |
probably benign |
Het |
Cyld |
A |
T |
8: 89,457,383 (GRCm39) |
R536* |
probably null |
Het |
Ddx1 |
A |
T |
12: 13,290,910 (GRCm39) |
C68* |
probably null |
Het |
Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
Dynlt1b |
T |
C |
17: 6,697,639 (GRCm39) |
|
probably null |
Het |
Faxc |
G |
A |
4: 21,982,491 (GRCm39) |
R310Q |
probably benign |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Gm5174 |
C |
A |
10: 86,492,144 (GRCm39) |
|
noncoding transcript |
Het |
Hspa12b |
C |
T |
2: 130,983,778 (GRCm39) |
H293Y |
possibly damaging |
Het |
Jakmip2 |
A |
G |
18: 43,710,501 (GRCm39) |
V234A |
probably benign |
Het |
Jkamp |
G |
A |
12: 72,140,799 (GRCm39) |
V108I |
probably benign |
Het |
Mettl23 |
T |
C |
11: 116,739,126 (GRCm39) |
V72A |
possibly damaging |
Het |
Morc2b |
T |
A |
17: 33,355,375 (GRCm39) |
Y799F |
probably benign |
Het |
Mtmr11 |
T |
A |
3: 96,075,393 (GRCm39) |
C358S |
probably damaging |
Het |
Myo18b |
G |
A |
5: 112,840,261 (GRCm39) |
H2511Y |
possibly damaging |
Het |
Mysm1 |
A |
G |
4: 94,857,248 (GRCm39) |
V120A |
probably benign |
Het |
Nhlrc1 |
C |
T |
13: 47,167,502 (GRCm39) |
V252I |
probably benign |
Het |
Or12j3 |
G |
A |
7: 139,952,857 (GRCm39) |
A222V |
probably benign |
Het |
Or2ak6 |
T |
G |
11: 58,593,277 (GRCm39) |
L250R |
probably damaging |
Het |
Or7g35 |
C |
A |
9: 19,495,854 (GRCm39) |
T7K |
probably damaging |
Het |
Pard3 |
G |
A |
8: 128,098,128 (GRCm39) |
A390T |
probably benign |
Het |
Pcdhga1 |
T |
A |
18: 37,796,605 (GRCm39) |
D536E |
probably damaging |
Het |
Phactr3 |
G |
A |
2: 177,924,982 (GRCm39) |
|
probably null |
Het |
Pkn2 |
T |
C |
3: 142,526,339 (GRCm39) |
N413D |
possibly damaging |
Het |
Ppp1r12b |
T |
G |
1: 134,709,846 (GRCm39) |
|
probably benign |
Het |
Ptprf |
A |
G |
4: 118,083,649 (GRCm39) |
|
probably null |
Het |
Rab3gap1 |
T |
C |
1: 127,865,304 (GRCm39) |
|
probably null |
Het |
Rasa1 |
A |
G |
13: 85,392,314 (GRCm39) |
Y407H |
probably damaging |
Het |
Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
Slc27a1 |
A |
G |
8: 72,037,617 (GRCm39) |
T535A |
probably benign |
Het |
Stra6 |
G |
A |
9: 58,050,309 (GRCm39) |
A237T |
probably benign |
Het |
Tor1aip2 |
A |
G |
1: 155,941,182 (GRCm39) |
E496G |
probably damaging |
Het |
Usp47 |
A |
G |
7: 111,707,836 (GRCm39) |
D1294G |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,643,187 (GRCm39) |
|
probably null |
Het |
Vmn1r79 |
T |
A |
7: 11,910,971 (GRCm39) |
C284* |
probably null |
Het |
Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
possibly damaging |
Het |
Zbtb40 |
C |
T |
4: 136,745,860 (GRCm39) |
A58T |
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,518,952 (GRCm39) |
T25A |
probably damaging |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTTTCCCTAGAGATCAAACCCC -3'
(R):5'- ACTTAGAGGAATGTGTTCTTCCCC -3'
Sequencing Primer
(F):5'- TGTTGACTCTCAGGGACACC -3'
(R):5'- AGAGGAATGTGTTCTTCCCCTATCTC -3'
|
Posted On |
2015-06-12 |