Incidental Mutation 'R2342:Frmd6'
| ID |
246794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmd6
|
| Ensembl Gene |
ENSMUSG00000048285 |
| Gene Name |
FERM domain containing 6 |
| Synonyms |
4930488L10Rik, 2610019M19Rik |
| MMRRC Submission |
040328-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2342 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
70872288-70949008 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 70930592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 237
(Y237*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057859]
|
| AlphaFold |
Q8C0V9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000057859
AA Change: Y237*
|
| SMART Domains |
Protein: ENSMUSP00000052202
Gene: ENSMUSG00000048285
AA Change: Y237*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
C |
T |
13: 98,130,537 (GRCm39) |
E434K |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,855,515 (GRCm39) |
M236K |
probably benign |
Het |
| Camk1 |
T |
C |
6: 113,318,942 (GRCm39) |
|
probably benign |
Het |
| Chd8 |
A |
C |
14: 52,442,674 (GRCm39) |
N625K |
probably benign |
Het |
| Dcaf8 |
A |
G |
1: 172,013,928 (GRCm39) |
H373R |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,420,702 (GRCm39) |
T1728M |
probably damaging |
Het |
| Elf1 |
T |
C |
14: 79,802,896 (GRCm39) |
|
probably benign |
Het |
| Epha2 |
C |
T |
4: 141,050,842 (GRCm39) |
A866V |
probably benign |
Het |
| Glg1 |
A |
T |
8: 111,914,439 (GRCm39) |
C448* |
probably null |
Het |
| Gm4787 |
G |
T |
12: 81,425,532 (GRCm39) |
R209S |
possibly damaging |
Het |
| Hhipl1 |
T |
C |
12: 108,284,721 (GRCm39) |
L358P |
probably damaging |
Het |
| Hmgxb3 |
G |
A |
18: 61,296,063 (GRCm39) |
T315I |
possibly damaging |
Het |
| Irak2 |
C |
A |
6: 113,670,632 (GRCm39) |
T539K |
probably benign |
Het |
| Lrp1b |
C |
A |
2: 40,809,208 (GRCm39) |
G2568C |
possibly damaging |
Het |
| Meis1 |
C |
T |
11: 18,831,647 (GRCm39) |
A464T |
probably damaging |
Het |
| Or10g1b |
C |
A |
14: 52,627,322 (GRCm39) |
A303S |
possibly damaging |
Het |
| Or6a2 |
T |
C |
7: 106,600,116 (GRCm39) |
D317G |
probably benign |
Het |
| Orc4 |
A |
G |
2: 48,817,152 (GRCm39) |
S179P |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,729,691 (GRCm39) |
|
probably benign |
Het |
| Prpf40b |
T |
A |
15: 99,204,049 (GRCm39) |
V174D |
probably damaging |
Het |
| Rnf169 |
T |
C |
7: 99,574,652 (GRCm39) |
K648E |
possibly damaging |
Het |
| Rtf1 |
A |
G |
2: 119,542,598 (GRCm39) |
T301A |
probably benign |
Het |
| Sdccag8 |
T |
C |
1: 176,747,207 (GRCm39) |
V528A |
probably benign |
Het |
| Sgsh |
A |
G |
11: 119,238,540 (GRCm39) |
V308A |
probably benign |
Het |
| Shmt2 |
A |
G |
10: 127,354,680 (GRCm39) |
V335A |
possibly damaging |
Het |
| Skint6 |
T |
A |
4: 113,034,180 (GRCm39) |
T316S |
probably benign |
Het |
| Tbl2 |
G |
A |
5: 135,187,607 (GRCm39) |
R288Q |
possibly damaging |
Het |
| Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,353,599 (GRCm39) |
K1469E |
possibly damaging |
Het |
| Virma |
T |
C |
4: 11,501,316 (GRCm39) |
Y92H |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Wnt16 |
A |
G |
6: 22,288,923 (GRCm39) |
E80G |
probably damaging |
Het |
| Zbtb10 |
C |
T |
3: 9,330,255 (GRCm39) |
P538S |
possibly damaging |
Het |
| Zup1 |
G |
A |
10: 33,804,113 (GRCm39) |
H454Y |
probably 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 |
|
R3963:Frmd6
|
UTSW |
12 |
70,940,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3982:Frmd6
|
UTSW |
12 |
70,934,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGTGGCCTGAATTAGCTTCTCATC -3'
(R):5'- CAGCCCTTCGTTATCACACG -3'
Sequencing Primer
(F):5'- GAATTAGCTTCTCATCCTCTTGTCGG -3'
(R):5'- GCCCTTCGTTATCACACGTTACAAAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation