Incidental Mutation 'R6404:Frmd5'
| ID |
518882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmd5
|
| Ensembl Gene |
ENSMUSG00000027238 |
| Gene Name |
FERM domain containing 5 |
| Synonyms |
1500032A09Rik, A930004K21Rik |
| MMRRC Submission |
044549-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6404 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121376010-121637568 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 121379699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 70
(R70*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110592]
[ENSMUST00000110593]
[ENSMUST00000110602]
[ENSMUST00000121219]
[ENSMUST00000128428]
[ENSMUST00000138157]
[ENSMUST00000155570]
[ENSMUST00000212518]
|
| AlphaFold |
Q6P5H6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000110592
AA Change: R384*
|
| SMART Domains |
Protein: ENSMUSP00000106222
Gene: ENSMUSG00000027238
AA Change: R384*
| 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
AA Change: R376*
|
| SMART Domains |
Protein: ENSMUSP00000106223
Gene: ENSMUSG00000027238
AA Change: R376*
| 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 null
Transcript: ENSMUST00000121219
AA Change: R295*
|
| SMART Domains |
Protein: ENSMUSP00000113568
Gene: ENSMUSG00000027238
AA Change: R295*
| 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
AA Change: R74*
|
| SMART Domains |
Protein: ENSMUSP00000118272
Gene: ENSMUSG00000027238
AA Change: R74*
| 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
AA Change: R302*
|
| SMART Domains |
Protein: ENSMUSP00000118269
Gene: ENSMUSG00000027238
AA Change: R302*
| 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
AA Change: R384*
|
| SMART Domains |
Protein: ENSMUSP00000115136
Gene: ENSMUSG00000027238
AA Change: R384*
| 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
AA Change: R376*
|
| SMART Domains |
Protein: ENSMUSP00000120176
Gene: ENSMUSG00000027238
AA Change: R376*
| 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: ENSMUST00000212518
AA Change: R70*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153932
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,484,892 (GRCm39) |
D1540G |
probably benign |
Het |
| Adamts7 |
A |
T |
9: 90,062,509 (GRCm39) |
|
probably null |
Het |
| Apol10a |
C |
A |
15: 77,373,241 (GRCm39) |
F292L |
probably benign |
Het |
| Atp13a4 |
A |
T |
16: 29,290,719 (GRCm39) |
Y243* |
probably null |
Het |
| Cc2d2a |
A |
G |
5: 43,861,416 (GRCm39) |
N660D |
possibly damaging |
Het |
| Ccdc57 |
T |
C |
11: 120,785,538 (GRCm39) |
T466A |
probably benign |
Het |
| Ccdc74a |
A |
T |
16: 17,467,889 (GRCm39) |
N249Y |
possibly damaging |
Het |
| Cd3e |
T |
A |
9: 44,912,426 (GRCm39) |
E106V |
probably damaging |
Het |
| Col4a1 |
G |
T |
8: 11,257,409 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
T |
C |
4: 128,415,743 (GRCm39) |
Y2691H |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,282,820 (GRCm39) |
R2786G |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 119,059,606 (GRCm39) |
T768A |
probably benign |
Het |
| Endou |
T |
A |
15: 97,610,012 (GRCm39) |
Q428L |
probably damaging |
Het |
| Fam13c |
T |
C |
10: 70,284,646 (GRCm39) |
|
probably null |
Het |
| Fhip1b |
G |
A |
7: 105,034,198 (GRCm39) |
R478* |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gm4131 |
T |
A |
14: 62,718,598 (GRCm39) |
R3* |
probably null |
Het |
| Habp4 |
A |
G |
13: 64,330,000 (GRCm39) |
T302A |
possibly damaging |
Het |
| Ift81 |
A |
T |
5: 122,749,069 (GRCm39) |
D27E |
probably damaging |
Het |
| Iqcf3 |
T |
C |
9: 106,430,083 (GRCm39) |
I107V |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,865,985 (GRCm39) |
I298T |
probably benign |
Het |
| Lilrb4b |
A |
G |
10: 51,361,825 (GRCm39) |
D199G |
probably damaging |
Het |
| Lsm8 |
C |
T |
6: 18,848,739 (GRCm39) |
S3F |
possibly damaging |
Het |
| Meox1 |
T |
C |
11: 101,769,482 (GRCm39) |
E238G |
probably benign |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,097,737 (GRCm39) |
Y901C |
probably damaging |
Het |
| Nfat5 |
A |
G |
8: 108,097,220 (GRCm39) |
M121V |
probably benign |
Het |
| Notch2 |
G |
A |
3: 97,989,314 (GRCm39) |
G278D |
probably damaging |
Het |
| Or4c121 |
T |
C |
2: 89,023,906 (GRCm39) |
I157M |
probably damaging |
Het |
| Pbld2 |
T |
A |
10: 62,890,107 (GRCm39) |
S172T |
probably damaging |
Het |
| Pla2g7 |
T |
A |
17: 43,905,688 (GRCm39) |
Y83N |
probably damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,945,705 (GRCm39) |
I2079F |
probably damaging |
Het |
| Rara |
T |
C |
11: 98,851,839 (GRCm39) |
F17L |
probably benign |
Het |
| Skint5 |
G |
A |
4: 113,799,806 (GRCm39) |
T121I |
probably damaging |
Het |
| Slco6c1 |
T |
C |
1: 97,046,330 (GRCm39) |
Y251C |
probably damaging |
Het |
| Slmap |
T |
A |
14: 26,143,566 (GRCm39) |
|
probably null |
Het |
| Uba2 |
A |
T |
7: 33,853,985 (GRCm39) |
L319Q |
probably damaging |
Het |
| Vmn2r96 |
A |
T |
17: 18,817,793 (GRCm39) |
I457F |
probably damaging |
Het |
| Zfp57 |
A |
T |
17: 37,320,716 (GRCm39) |
H190L |
probably damaging |
Het |
| Zfp738 |
A |
G |
13: 67,819,179 (GRCm39) |
S271P |
possibly damaging |
Het |
| Zp2 |
A |
T |
7: 119,734,765 (GRCm39) |
H474Q |
possibly 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 |
|
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'- TCCTCAATGCTGCACGTGG -3'
(R):5'- AAATGTCCACTGGGTACTTCTTTTG -3'
Sequencing Primer
(F):5'- TTGATCTGCCGGGAGAGC -3'
(R):5'- GCCCTGTTCTTGATGTCTGCATATG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation