Incidental Mutation 'R1366:Frmd6'
| ID |
156046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmd6
|
| Ensembl Gene |
ENSMUSG00000048285 |
| Gene Name |
FERM domain containing 6 |
| Synonyms |
4930488L10Rik, 2610019M19Rik |
| MMRRC Submission |
039431-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1366 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
70872288-70949008 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 70934663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057859]
|
| AlphaFold |
Q8C0V9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057859
|
| SMART Domains |
Protein: ENSMUSP00000052202
Gene: ENSMUSG00000048285
| 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
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 92.3%
- 20x: 80.8%
|
| Validation Efficiency |
93% (43/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,036,651 (GRCm39) |
S297T |
probably benign |
Het |
| Acsm1 |
T |
C |
7: 119,257,511 (GRCm39) |
|
probably benign |
Het |
| Ankar |
T |
A |
1: 72,737,808 (GRCm39) |
N125Y |
probably damaging |
Het |
| Ccdc121 |
T |
A |
5: 31,644,861 (GRCm39) |
C205S |
probably benign |
Het |
| Chd1l |
T |
C |
3: 97,488,465 (GRCm39) |
D517G |
probably damaging |
Het |
| Cir1 |
A |
T |
2: 73,136,757 (GRCm39) |
|
probably benign |
Het |
| Cpxm1 |
G |
A |
2: 130,238,042 (GRCm39) |
R136W |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,830,390 (GRCm39) |
E761D |
probably benign |
Het |
| Fam186a |
T |
A |
15: 99,841,270 (GRCm39) |
E1658V |
possibly damaging |
Het |
| Fam98a |
A |
G |
17: 75,846,381 (GRCm39) |
|
probably benign |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Gmpr2 |
T |
C |
14: 55,914,200 (GRCm39) |
|
probably benign |
Het |
| Hck |
G |
A |
2: 152,980,215 (GRCm39) |
G348D |
probably damaging |
Het |
| Ifnab |
T |
A |
4: 88,609,337 (GRCm39) |
Q43L |
possibly damaging |
Het |
| Ilkap |
A |
G |
1: 91,314,937 (GRCm39) |
I142T |
possibly damaging |
Het |
| Lamc3 |
T |
C |
2: 31,818,859 (GRCm39) |
S1206P |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,382,851 (GRCm39) |
T134A |
probably benign |
Het |
| Mmp9 |
T |
A |
2: 164,795,262 (GRCm39) |
V628E |
probably damaging |
Het |
| Msi2 |
A |
T |
11: 88,607,406 (GRCm39) |
V67D |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,969,236 (GRCm39) |
V630E |
probably damaging |
Het |
| Nkain1 |
A |
G |
4: 130,537,316 (GRCm38) |
V73A |
probably damaging |
Het |
| Nphp4 |
T |
A |
4: 152,587,383 (GRCm39) |
D245E |
probably damaging |
Het |
| Or14j3 |
T |
C |
17: 37,900,655 (GRCm39) |
I196M |
probably benign |
Het |
| Or7a41 |
T |
G |
10: 78,870,876 (GRCm39) |
M82R |
probably damaging |
Het |
| Or9g8 |
G |
A |
2: 85,607,348 (GRCm39) |
C140Y |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,891,038 (GRCm39) |
|
probably benign |
Het |
| Plcxd1 |
A |
C |
5: 110,250,096 (GRCm39) |
I184L |
probably damaging |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Scube2 |
A |
G |
7: 109,403,821 (GRCm39) |
Y890H |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,055,928 (GRCm39) |
|
probably null |
Het |
| Tnfaip2 |
T |
G |
12: 111,415,756 (GRCm39) |
F485V |
probably benign |
Het |
| Tpd52 |
T |
C |
3: 9,028,993 (GRCm39) |
D17G |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,419,606 (GRCm39) |
D1034G |
probably damaging |
Het |
| Vmn2r118 |
G |
A |
17: 55,900,237 (GRCm39) |
Q556* |
probably null |
Het |
| Zftraf1 |
T |
C |
15: 76,533,169 (GRCm39) |
R190G |
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 |
|
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 |
|
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'- AGTGACAGTTGCCTTCGGAAGC -3'
(R):5'- AGGGATTCAATCCAGGTTGCCAAG -3'
Sequencing Primer
(F):5'- CCTTTTCCAAAAAAGGGCTGAG -3'
(R):5'- AAGTTTGGCTGCAAGCCC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation