Incidental Mutation 'R7520:Frmd5'
ID |
582613 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Frmd5
|
Ensembl Gene |
ENSMUSG00000027238 |
Gene Name |
FERM domain containing 5 |
Synonyms |
1500032A09Rik, A930004K21Rik |
MMRRC Submission |
045592-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7520 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
121376010-121637568 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 121384745 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106223
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110592]
[ENSMUST00000110592]
[ENSMUST00000110593]
[ENSMUST00000110593]
[ENSMUST00000121219]
[ENSMUST00000121219]
[ENSMUST00000128428]
[ENSMUST00000138157]
[ENSMUST00000138157]
[ENSMUST00000155570]
[ENSMUST00000155570]
[ENSMUST00000212518]
|
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: 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 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: 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 null
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 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 |
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 |
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 |
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 |
probably benign
Transcript: ENSMUST00000212518
|
Meta Mutation Damage Score |
0.9491 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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 |
Aadacl4fm2 |
T |
C |
4: 144,281,859 (GRCm39) |
Y311C |
probably damaging |
Het |
Abca1 |
A |
T |
4: 53,078,114 (GRCm39) |
I886N |
probably benign |
Het |
Adamts6 |
A |
G |
13: 104,433,694 (GRCm39) |
H41R |
probably benign |
Het |
Adck1 |
T |
C |
12: 88,425,975 (GRCm39) |
|
probably null |
Het |
Atat1 |
G |
T |
17: 36,208,706 (GRCm39) |
T398K |
probably benign |
Het |
Bahcc1 |
A |
G |
11: 120,167,031 (GRCm39) |
E1144G |
possibly damaging |
Het |
Cand2 |
G |
T |
6: 115,762,212 (GRCm39) |
E213* |
probably null |
Het |
Cep350 |
A |
G |
1: 155,791,375 (GRCm39) |
S1250P |
probably benign |
Het |
Cln3 |
A |
G |
7: 126,180,852 (GRCm39) |
L63P |
probably damaging |
Het |
Col4a4 |
A |
T |
1: 82,484,808 (GRCm39) |
C486* |
probably null |
Het |
Ctnnal1 |
A |
T |
4: 56,837,838 (GRCm39) |
M264K |
probably damaging |
Het |
Ddr2 |
T |
A |
1: 169,812,008 (GRCm39) |
D738V |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,104,887 (GRCm39) |
M1901V |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,345,255 (GRCm39) |
T2200A |
probably benign |
Het |
Dolk |
A |
G |
2: 30,174,555 (GRCm39) |
Y497H |
probably benign |
Het |
Drd5 |
T |
C |
5: 38,478,195 (GRCm39) |
V396A |
probably benign |
Het |
Epsti1 |
A |
T |
14: 78,200,883 (GRCm39) |
|
probably null |
Het |
Erich3 |
A |
G |
3: 154,468,763 (GRCm39) |
T1072A |
unknown |
Het |
Ero1a |
A |
T |
14: 45,544,032 (GRCm39) |
N57K |
probably damaging |
Het |
Exph5 |
T |
C |
9: 53,278,514 (GRCm39) |
|
probably null |
Het |
H2-Q7 |
A |
G |
17: 35,661,686 (GRCm39) |
T310A |
probably benign |
Het |
Hecw2 |
G |
T |
1: 53,965,215 (GRCm39) |
A537E |
probably benign |
Het |
Itga4 |
A |
T |
2: 79,131,333 (GRCm39) |
D567V |
probably damaging |
Het |
Kcnu1 |
A |
T |
8: 26,375,368 (GRCm39) |
N361Y |
probably damaging |
Het |
Keap1 |
A |
G |
9: 21,144,787 (GRCm39) |
S408P |
probably benign |
Het |
Mamdc4 |
T |
A |
2: 25,455,360 (GRCm39) |
I928F |
possibly damaging |
Het |
Mboat4 |
T |
C |
8: 34,591,028 (GRCm39) |
F155S |
probably benign |
Het |
Mtbp |
A |
G |
15: 55,440,742 (GRCm39) |
|
probably benign |
Het |
Nmi |
T |
G |
2: 51,842,492 (GRCm39) |
K200T |
probably benign |
Het |
Or2n1e |
G |
A |
17: 38,586,331 (GRCm39) |
C223Y |
probably benign |
Het |
Or8g19 |
G |
T |
9: 39,055,414 (GRCm39) |
R6L |
probably benign |
Het |
Pcdha7 |
G |
A |
18: 37,108,366 (GRCm39) |
V464M |
probably damaging |
Het |
Peg10 |
T |
A |
6: 4,756,796 (GRCm39) |
N457K |
unknown |
Het |
Plekha7 |
A |
T |
7: 115,736,519 (GRCm39) |
I944N |
possibly damaging |
Het |
Plpp1 |
T |
A |
13: 112,937,781 (GRCm39) |
D13E |
possibly damaging |
Het |
Pnpla6 |
G |
T |
8: 3,587,508 (GRCm39) |
V1070F |
probably damaging |
Het |
Riox1 |
T |
A |
12: 83,998,545 (GRCm39) |
Y360* |
probably null |
Het |
Sdhb |
A |
G |
4: 140,693,882 (GRCm39) |
D50G |
possibly damaging |
Het |
Slc35f2 |
T |
A |
9: 53,708,385 (GRCm39) |
V126D |
possibly damaging |
Het |
Slmap |
A |
G |
14: 26,148,575 (GRCm39) |
V612A |
probably benign |
Het |
Snap91 |
T |
A |
9: 86,721,702 (GRCm39) |
I46F |
probably damaging |
Het |
Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
Taar7b |
T |
C |
10: 23,876,381 (GRCm39) |
L182P |
probably damaging |
Het |
Tmc1 |
T |
A |
19: 20,776,542 (GRCm39) |
M606L |
probably damaging |
Het |
Trpm8 |
T |
A |
1: 88,271,043 (GRCm39) |
D444E |
probably benign |
Het |
Tsen54 |
A |
G |
11: 115,711,797 (GRCm39) |
T405A |
probably damaging |
Het |
Ttll5 |
T |
C |
12: 85,946,245 (GRCm39) |
W492R |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,728,123 (GRCm39) |
T5566S |
unknown |
Het |
Utp20 |
A |
T |
10: 88,654,457 (GRCm39) |
M210K |
probably damaging |
Het |
Zfand1 |
A |
G |
3: 10,411,009 (GRCm39) |
V115A |
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 |
|
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 |
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'- TTTGGCCAGAAGCTTCATGG -3'
(R):5'- CCACAGAGACTGAAGCCTTG -3'
Sequencing Primer
(F):5'- AAGCTTCATGGGCTTGGC -3'
(R):5'- ACTGAAGCCTTGGGGGATG -3'
|
Posted On |
2019-10-17 |