Incidental Mutation 'R6527:Flacc1'
ID |
521930 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Flacc1
|
Ensembl Gene |
ENSMUSG00000047528 |
Gene Name |
flagellum associated containing coiled-coil domains 1 |
Synonyms |
Als2cr12, 4933405P16Rik, 4933425F06Rik |
MMRRC Submission |
044653-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R6527 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
58696085-58735167 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to C
at 58731572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055313]
[ENSMUST00000188772]
[ENSMUST00000191252]
[ENSMUST00000191565]
|
AlphaFold |
Q8BVM7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000055313
AA Change: M1V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000062497 Gene: ENSMUSG00000047528 AA Change: M1V
Domain | Start | End | E-Value | Type |
coiled coil region
|
125 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
276 |
359 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185953
|
Predicted Effect |
probably null
Transcript: ENSMUST00000188772
AA Change: M1V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000140780 Gene: ENSMUSG00000047528 AA Change: M1V
Domain | Start | End | E-Value | Type |
coiled coil region
|
125 |
221 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188839
|
Predicted Effect |
probably null
Transcript: ENSMUST00000191252
AA Change: M1V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000191565
AA Change: M1V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000139420 Gene: ENSMUSG00000047528 AA Change: M1V
Domain | Start | End | E-Value | Type |
coiled coil region
|
125 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
276 |
359 |
N/A |
INTRINSIC |
low complexity region
|
386 |
404 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,773,288 (GRCm39) |
T826A |
probably damaging |
Het |
Abca16 |
T |
A |
7: 120,076,995 (GRCm39) |
I686N |
possibly damaging |
Het |
Abcb6 |
T |
C |
1: 75,154,132 (GRCm39) |
|
probably null |
Het |
Adgrl3 |
A |
C |
5: 81,935,364 (GRCm39) |
E1299A |
probably damaging |
Het |
Amd2 |
A |
C |
10: 35,586,802 (GRCm39) |
Y252D |
probably damaging |
Het |
Cfap74 |
A |
G |
4: 155,506,722 (GRCm39) |
|
probably null |
Het |
Dhx29 |
G |
T |
13: 113,069,076 (GRCm39) |
K135N |
probably damaging |
Het |
Dlg5 |
T |
A |
14: 24,240,516 (GRCm39) |
D245V |
possibly damaging |
Het |
Dscaml1 |
C |
T |
9: 45,623,482 (GRCm39) |
Q83* |
probably null |
Het |
Dsp |
T |
A |
13: 38,379,849 (GRCm39) |
L1599Q |
probably damaging |
Het |
Duox2 |
A |
G |
2: 122,125,095 (GRCm39) |
V369A |
probably benign |
Het |
Gbe1 |
T |
A |
16: 70,230,560 (GRCm39) |
|
probably null |
Het |
Gm7298 |
A |
G |
6: 121,746,669 (GRCm39) |
K600R |
probably benign |
Het |
Heatr4 |
C |
T |
12: 84,026,537 (GRCm39) |
G240E |
probably damaging |
Het |
Jakmip2 |
A |
G |
18: 43,689,589 (GRCm39) |
V651A |
possibly damaging |
Het |
Jam3 |
C |
T |
9: 27,066,640 (GRCm39) |
R8Q |
unknown |
Het |
Letm2 |
A |
G |
8: 26,082,522 (GRCm39) |
|
probably benign |
Het |
Lmod3 |
T |
C |
6: 97,224,339 (GRCm39) |
D494G |
probably benign |
Het |
Mast2 |
T |
C |
4: 116,172,136 (GRCm39) |
D604G |
probably damaging |
Het |
Mif4gd |
C |
T |
11: 115,500,101 (GRCm39) |
|
probably null |
Het |
Msr1 |
T |
C |
8: 40,077,274 (GRCm39) |
E112G |
possibly damaging |
Het |
Mtus2 |
A |
G |
5: 148,214,408 (GRCm39) |
|
probably null |
Het |
Muc4 |
A |
G |
16: 32,753,433 (GRCm38) |
H1103R |
probably benign |
Het |
Nudt14 |
T |
A |
12: 112,898,507 (GRCm39) |
I198F |
possibly damaging |
Het |
Or11j4 |
T |
A |
14: 50,630,885 (GRCm39) |
L224* |
probably null |
Het |
Or13p3 |
T |
A |
4: 118,567,045 (GRCm39) |
F147Y |
possibly damaging |
Het |
Or1n1b |
T |
C |
2: 36,780,594 (GRCm39) |
T89A |
probably benign |
Het |
Osbpl8 |
T |
C |
10: 111,129,066 (GRCm39) |
I884T |
probably benign |
Het |
Podxl2 |
T |
C |
6: 88,819,912 (GRCm39) |
N550S |
probably damaging |
Het |
Ppp1r9a |
A |
G |
6: 5,045,949 (GRCm39) |
Y151C |
probably damaging |
Het |
Prss42 |
T |
C |
9: 110,629,924 (GRCm39) |
V226A |
possibly damaging |
Het |
Psmd12 |
A |
G |
11: 107,379,794 (GRCm39) |
I116V |
probably damaging |
Het |
Psme4 |
A |
C |
11: 30,782,175 (GRCm39) |
I872L |
probably benign |
Het |
Rab11fip1 |
A |
T |
8: 27,664,420 (GRCm39) |
V65E |
probably damaging |
Het |
Ros1 |
T |
C |
10: 52,019,473 (GRCm39) |
N700S |
possibly damaging |
Het |
Slc15a4 |
G |
A |
5: 127,673,773 (GRCm39) |
T547M |
probably damaging |
Het |
Slfn3 |
T |
A |
11: 83,103,932 (GRCm39) |
C268S |
probably benign |
Het |
Smc5 |
T |
C |
19: 23,205,554 (GRCm39) |
Q794R |
probably benign |
Het |
Sqor |
A |
G |
2: 122,651,206 (GRCm39) |
Y434C |
probably damaging |
Het |
Steap4 |
T |
A |
5: 8,028,502 (GRCm39) |
L360H |
probably damaging |
Het |
Sycp1 |
A |
G |
3: 102,806,203 (GRCm39) |
V496A |
probably benign |
Het |
Tmem161b |
T |
G |
13: 84,420,383 (GRCm39) |
M128R |
probably benign |
Het |
Tmem59l |
T |
C |
8: 70,938,775 (GRCm39) |
E102G |
probably damaging |
Het |
Tnks |
A |
T |
8: 35,340,247 (GRCm39) |
V457D |
probably benign |
Het |
Tomt |
A |
G |
7: 101,549,599 (GRCm39) |
Y230H |
probably damaging |
Het |
Trim37 |
A |
G |
11: 87,080,910 (GRCm39) |
N561D |
probably damaging |
Het |
V1ra8 |
T |
A |
6: 90,180,295 (GRCm39) |
I166K |
probably damaging |
Het |
Vmn1r56 |
A |
G |
7: 5,199,575 (GRCm39) |
V14A |
probably benign |
Het |
Vsig8 |
T |
C |
1: 172,387,925 (GRCm39) |
V5A |
possibly damaging |
Het |
Vwa8 |
A |
T |
14: 79,184,653 (GRCm39) |
S384C |
possibly damaging |
Het |
Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
Zfp984 |
T |
C |
4: 147,840,381 (GRCm39) |
N157D |
probably benign |
Het |
Zzef1 |
G |
A |
11: 72,765,816 (GRCm39) |
D1448N |
probably benign |
Het |
|
Other mutations in Flacc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01521:Flacc1
|
APN |
1 |
58,709,553 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02549:Flacc1
|
APN |
1 |
58,698,441 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02647:Flacc1
|
APN |
1 |
58,709,613 (GRCm39) |
missense |
probably benign |
|
IGL03098:Flacc1
|
UTSW |
1 |
58,730,908 (GRCm39) |
missense |
probably benign |
0.06 |
PIT4504001:Flacc1
|
UTSW |
1 |
58,698,258 (GRCm39) |
missense |
probably benign |
0.20 |
R1147:Flacc1
|
UTSW |
1 |
58,708,622 (GRCm39) |
missense |
probably damaging |
0.99 |
R1147:Flacc1
|
UTSW |
1 |
58,708,622 (GRCm39) |
missense |
probably damaging |
0.99 |
R1959:Flacc1
|
UTSW |
1 |
58,698,437 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1960:Flacc1
|
UTSW |
1 |
58,698,437 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3815:Flacc1
|
UTSW |
1 |
58,698,164 (GRCm39) |
missense |
probably damaging |
0.98 |
R4445:Flacc1
|
UTSW |
1 |
58,706,080 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4617:Flacc1
|
UTSW |
1 |
58,700,601 (GRCm39) |
missense |
probably benign |
0.19 |
R4720:Flacc1
|
UTSW |
1 |
58,717,507 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4816:Flacc1
|
UTSW |
1 |
58,709,567 (GRCm39) |
missense |
probably benign |
0.10 |
R4947:Flacc1
|
UTSW |
1 |
58,715,698 (GRCm39) |
missense |
probably benign |
0.05 |
R4960:Flacc1
|
UTSW |
1 |
58,706,965 (GRCm39) |
missense |
probably damaging |
0.98 |
R4970:Flacc1
|
UTSW |
1 |
58,698,441 (GRCm39) |
missense |
probably benign |
0.05 |
R5018:Flacc1
|
UTSW |
1 |
58,730,109 (GRCm39) |
missense |
probably benign |
|
R5112:Flacc1
|
UTSW |
1 |
58,698,441 (GRCm39) |
missense |
probably benign |
0.05 |
R5269:Flacc1
|
UTSW |
1 |
58,730,919 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5426:Flacc1
|
UTSW |
1 |
58,706,045 (GRCm39) |
nonsense |
probably null |
|
R5541:Flacc1
|
UTSW |
1 |
58,697,588 (GRCm39) |
missense |
probably benign |
0.03 |
R5845:Flacc1
|
UTSW |
1 |
58,706,937 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5863:Flacc1
|
UTSW |
1 |
58,730,908 (GRCm39) |
missense |
probably benign |
0.06 |
R6364:Flacc1
|
UTSW |
1 |
58,697,531 (GRCm39) |
missense |
probably damaging |
0.96 |
R6430:Flacc1
|
UTSW |
1 |
58,717,448 (GRCm39) |
missense |
probably damaging |
0.98 |
R6573:Flacc1
|
UTSW |
1 |
58,706,003 (GRCm39) |
missense |
probably benign |
0.27 |
R7367:Flacc1
|
UTSW |
1 |
58,706,023 (GRCm39) |
missense |
probably benign |
0.07 |
R7459:Flacc1
|
UTSW |
1 |
58,730,911 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7497:Flacc1
|
UTSW |
1 |
58,717,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R8317:Flacc1
|
UTSW |
1 |
58,715,707 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8925:Flacc1
|
UTSW |
1 |
58,706,882 (GRCm39) |
splice site |
probably null |
|
R9542:Flacc1
|
UTSW |
1 |
58,717,504 (GRCm39) |
missense |
probably benign |
0.10 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTGGCAAGCTCTCTACTG -3'
(R):5'- TGCTTTCCTGTCAAGTAGCAACC -3'
Sequencing Primer
(F):5'- CAAGCTCTCTACTGGGAAGTC -3'
(R):5'- TTCCTGTCAAGTAGCAACCATAAGG -3'
|
Posted On |
2018-06-06 |