Incidental Mutation 'R5018:Flacc1'
ID |
389038 |
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 |
042609-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R5018 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
58696085-58735167 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58730109 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 67
(V67A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055313]
[ENSMUST00000188772]
[ENSMUST00000191252]
[ENSMUST00000191565]
|
AlphaFold |
Q8BVM7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055313
AA Change: V67A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000062497 Gene: ENSMUSG00000047528 AA Change: V67A
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 benign
Transcript: ENSMUST00000188772
AA Change: V67A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140780 Gene: ENSMUSG00000047528 AA Change: V67A
Domain | Start | End | E-Value | Type |
coiled coil region
|
125 |
221 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188839
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191252
AA Change: V67A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191565
AA Change: V67A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139420 Gene: ENSMUSG00000047528 AA Change: V67A
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
A |
T |
14: 68,809,228 (GRCm39) |
F245I |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
Alx4 |
G |
T |
2: 93,507,764 (GRCm39) |
G353V |
probably damaging |
Het |
Apol7b |
A |
G |
15: 77,308,916 (GRCm39) |
F61L |
probably benign |
Het |
Aunip |
T |
A |
4: 134,250,928 (GRCm39) |
|
probably null |
Het |
Bfsp1 |
C |
A |
2: 143,704,802 (GRCm39) |
R17L |
possibly damaging |
Het |
Birc6 |
T |
A |
17: 74,947,054 (GRCm39) |
D2926E |
probably damaging |
Het |
Dmwd |
A |
G |
7: 18,812,044 (GRCm39) |
D166G |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,839,260 (GRCm39) |
S1233P |
possibly damaging |
Het |
Dnah11 |
G |
T |
12: 118,094,463 (GRCm39) |
N868K |
probably benign |
Het |
Eea1 |
T |
C |
10: 95,846,899 (GRCm39) |
V393A |
probably benign |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Fyttd1 |
A |
G |
16: 32,722,787 (GRCm39) |
|
probably null |
Het |
Hal |
T |
C |
10: 93,343,413 (GRCm39) |
|
probably null |
Het |
Hhat |
A |
T |
1: 192,277,346 (GRCm39) |
L371Q |
probably damaging |
Het |
Hpse2 |
A |
G |
19: 43,373,263 (GRCm39) |
F122S |
possibly damaging |
Het |
Kif21b |
A |
G |
1: 136,099,972 (GRCm39) |
I1509V |
probably benign |
Het |
Klhl20 |
T |
C |
1: 160,929,156 (GRCm39) |
D334G |
probably damaging |
Het |
Macf1 |
C |
T |
4: 123,279,392 (GRCm39) |
D3870N |
probably damaging |
Het |
Nlrc5 |
C |
T |
8: 95,252,080 (GRCm39) |
A1867V |
probably damaging |
Het |
Nr1h5 |
A |
G |
3: 102,855,111 (GRCm39) |
L330P |
probably damaging |
Het |
Or10g3b |
A |
C |
14: 52,586,736 (GRCm39) |
C256G |
possibly damaging |
Het |
Pcdh15 |
T |
G |
10: 74,479,607 (GRCm39) |
S573A |
possibly damaging |
Het |
Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
Scd4 |
T |
A |
19: 44,326,048 (GRCm39) |
M134K |
probably benign |
Het |
Sh3gl2 |
A |
G |
4: 85,309,291 (GRCm39) |
|
probably benign |
Het |
Sin3a |
T |
A |
9: 57,018,175 (GRCm39) |
S865T |
probably benign |
Het |
Slitrk3 |
G |
A |
3: 72,957,845 (GRCm39) |
T309I |
probably benign |
Het |
Sspo |
G |
A |
6: 48,432,634 (GRCm39) |
E837K |
probably damaging |
Het |
Stag1 |
A |
G |
9: 100,833,672 (GRCm39) |
D1095G |
probably benign |
Het |
Trat1 |
A |
T |
16: 48,555,168 (GRCm39) |
L188* |
probably null |
Het |
Ubn1 |
A |
G |
16: 4,881,589 (GRCm39) |
D207G |
probably damaging |
Het |
Ugp2 |
A |
G |
11: 21,281,052 (GRCm39) |
Y219H |
probably damaging |
Het |
Ugt2b1 |
G |
T |
5: 87,073,821 (GRCm39) |
Y179* |
probably null |
Het |
Vmn2r27 |
T |
A |
6: 124,201,141 (GRCm39) |
D272V |
probably benign |
Het |
Vmn2r3 |
T |
C |
3: 64,178,774 (GRCm39) |
E497G |
probably benign |
Het |
Vmn2r91 |
G |
T |
17: 18,356,700 (GRCm39) |
C789F |
probably damaging |
Het |
Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
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 |
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 |
R6527:Flacc1
|
UTSW |
1 |
58,731,572 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
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'- AGTTTGGCCACATAGCAGCC -3'
(R):5'- ATTTGCCCTGAGAGCTCCAG -3'
Sequencing Primer
(F):5'- TAGCAGCCACCTCAAATGC -3'
(R):5'- TGAGAGCTCCAGACTGCAC -3'
|
Posted On |
2016-06-06 |