Incidental Mutation 'R3982:Frmd6'
| ID |
345318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmd6
|
| Ensembl Gene |
ENSMUSG00000048285 |
| Gene Name |
FERM domain containing 6 |
| Synonyms |
4930488L10Rik, 2610019M19Rik |
| MMRRC Submission |
041608-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3982 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
70872288-70949008 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70934608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 269
(L269P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057859]
|
| AlphaFold |
Q8C0V9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057859
AA Change: L269P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052202
Gene: ENSMUSG00000048285
AA Change: L269P
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
13 |
234 |
2.41e-25 |
SMART |
|
FERM_C
|
241 |
332 |
9.63e-19 |
SMART |
|
low complexity region
|
365 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
512 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220515
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222802
|
| Meta Mutation Damage Score |
0.8320 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,547,180 (GRCm39) |
|
probably null |
Het |
| Adgrg6 |
T |
C |
10: 14,324,589 (GRCm39) |
N445S |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,842,373 (GRCm39) |
T902A |
possibly damaging |
Het |
| Atf4 |
T |
C |
15: 80,141,069 (GRCm39) |
V153A |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,984,365 (GRCm39) |
T3230A |
unknown |
Het |
| Cadps2 |
A |
G |
6: 23,263,530 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,461,070 (GRCm39) |
T194S |
probably benign |
Het |
| Cth |
A |
T |
3: 157,619,334 (GRCm39) |
L163* |
probably null |
Het |
| Flnc |
G |
A |
6: 29,442,940 (GRCm39) |
V492M |
probably damaging |
Het |
| Gpr62 |
G |
A |
9: 106,342,085 (GRCm39) |
A281V |
probably benign |
Het |
| Hapln1 |
T |
A |
13: 89,753,560 (GRCm39) |
F242Y |
probably benign |
Het |
| Ighv1-39 |
A |
T |
12: 114,878,251 (GRCm39) |
S107T |
possibly damaging |
Het |
| Itga8 |
A |
G |
2: 12,305,774 (GRCm39) |
V72A |
possibly damaging |
Het |
| Kcp |
A |
T |
6: 29,484,636 (GRCm39) |
L1314Q |
probably damaging |
Het |
| Klre1 |
T |
A |
6: 129,560,101 (GRCm39) |
C124* |
probably null |
Het |
| Lrrk2 |
T |
A |
15: 91,593,487 (GRCm39) |
M482K |
probably benign |
Het |
| Man2b2 |
T |
C |
5: 36,971,164 (GRCm39) |
N734S |
probably benign |
Het |
| Map3k20 |
C |
T |
2: 72,268,571 (GRCm39) |
T526I |
probably damaging |
Het |
| Mdga1 |
C |
A |
17: 30,150,238 (GRCm39) |
A125S |
unknown |
Het |
| Mmd2 |
T |
C |
5: 142,550,554 (GRCm39) |
Y228C |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,235,485 (GRCm39) |
Y178N |
probably damaging |
Het |
| Nifk |
T |
A |
1: 118,257,282 (GRCm39) |
S138R |
possibly damaging |
Het |
| Nlrp4b |
T |
C |
7: 10,448,358 (GRCm39) |
V187A |
possibly damaging |
Het |
| Palmd |
T |
C |
3: 116,717,472 (GRCm39) |
T342A |
probably benign |
Het |
| Pigo |
A |
T |
4: 43,023,482 (GRCm39) |
S231T |
probably benign |
Het |
| Pik3cb |
G |
A |
9: 98,928,654 (GRCm39) |
T867M |
probably benign |
Het |
| Plag1 |
A |
T |
4: 3,904,055 (GRCm39) |
S379T |
probably damaging |
Het |
| Polg2 |
G |
A |
11: 106,670,028 (GRCm39) |
R81* |
probably null |
Het |
| Prpf4b |
C |
T |
13: 35,068,196 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,379,257 (GRCm39) |
I1981F |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,668,889 (GRCm39) |
V1137A |
probably benign |
Het |
| Usp24 |
G |
A |
4: 106,245,080 (GRCm39) |
E1307K |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,948 (GRCm39) |
M807K |
probably damaging |
Het |
| Wee2 |
A |
T |
6: 40,432,175 (GRCm39) |
N248I |
possibly damaging |
Het |
|
| Other mutations in Frmd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0629:Frmd6
|
UTSW |
12 |
70,930,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0662:Frmd6
|
UTSW |
12 |
70,946,218 (GRCm39) |
nonsense |
probably null |
|
|
R0747:Frmd6
|
UTSW |
12 |
70,910,830 (GRCm39) |
missense |
probably benign |
|
|
R1144:Frmd6
|
UTSW |
12 |
70,923,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1366:Frmd6
|
UTSW |
12 |
70,934,663 (GRCm39) |
splice site |
probably benign |
|
|
R1763:Frmd6
|
UTSW |
12 |
70,940,396 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2135:Frmd6
|
UTSW |
12 |
70,941,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2342:Frmd6
|
UTSW |
12 |
70,930,592 (GRCm39) |
nonsense |
probably null |
|
|
R3963:Frmd6
|
UTSW |
12 |
70,940,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4010:Frmd6
|
UTSW |
12 |
70,946,327 (GRCm39) |
missense |
probably benign |
|
|
R4416:Frmd6
|
UTSW |
12 |
70,924,023 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4823:Frmd6
|
UTSW |
12 |
70,919,349 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4861:Frmd6
|
UTSW |
12 |
70,940,500 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5368:Frmd6
|
UTSW |
12 |
70,910,874 (GRCm39) |
nonsense |
probably null |
|
|
R5806:Frmd6
|
UTSW |
12 |
70,936,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6226:Frmd6
|
UTSW |
12 |
70,910,685 (GRCm39) |
start gained |
probably benign |
|
|
R6253:Frmd6
|
UTSW |
12 |
70,923,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6781:Frmd6
|
UTSW |
12 |
70,946,417 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7051:Frmd6
|
UTSW |
12 |
70,944,170 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7156:Frmd6
|
UTSW |
12 |
70,923,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7481:Frmd6
|
UTSW |
12 |
70,933,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8888:Frmd6
|
UTSW |
12 |
70,940,646 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9368:Frmd6
|
UTSW |
12 |
70,933,865 (GRCm39) |
critical splice donor site |
probably null |
|
|
U24488:Frmd6
|
UTSW |
12 |
70,940,653 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0022:Frmd6
|
UTSW |
12 |
70,910,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Frmd6
|
UTSW |
12 |
70,927,452 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCTGATCTTAATTACTGTCGG -3'
(R):5'- GTGAGTCATTTCACCTGCCC -3'
Sequencing Primer
(F):5'- GATCTTAATTACTGTCGGCCCTTTTC -3'
(R):5'- TGCCCCTAGCTTCTACTTAAAAAC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation