Incidental Mutation 'R6573:Flacc1'
| ID |
523298 |
| 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 |
044697-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R6573 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
58696085-58735167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58706003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 289
(F289L)
|
| 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: F289L
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000062497
Gene: ENSMUSG00000047528
AA Change: F289L
| 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: F289L
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000140780
Gene: ENSMUSG00000047528
AA Change: F289L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
125 |
221 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191252
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191565
AA Change: F289L
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139420
Gene: ENSMUSG00000047528
AA Change: F289L
| 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: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ceacam5 |
A |
G |
7: 17,447,372 (GRCm39) |
M1V |
probably null |
Het |
| Clstn1 |
A |
G |
4: 149,728,146 (GRCm39) |
T605A |
probably damaging |
Het |
| Cstf2t |
A |
G |
19: 31,061,180 (GRCm39) |
M239V |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,380,838 (GRCm39) |
R1929W |
probably damaging |
Het |
| Edf1 |
G |
T |
2: 25,451,875 (GRCm39) |
R133L |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,971,461 (GRCm39) |
Y129F |
possibly damaging |
Het |
| Entrep1 |
T |
A |
19: 23,965,866 (GRCm39) |
N211I |
probably damaging |
Het |
| Fbxo34 |
A |
T |
14: 47,767,124 (GRCm39) |
L212F |
possibly damaging |
Het |
| Gas2l3 |
C |
A |
10: 89,258,072 (GRCm39) |
|
probably null |
Het |
| Gfod1 |
C |
T |
13: 43,353,841 (GRCm39) |
S378N |
probably damaging |
Het |
| Gse1 |
T |
C |
8: 121,294,536 (GRCm39) |
S288P |
probably damaging |
Het |
| Gzme |
T |
A |
14: 56,356,283 (GRCm39) |
T72S |
probably benign |
Het |
| Hyal5 |
T |
C |
6: 24,891,551 (GRCm39) |
V455A |
probably damaging |
Het |
| Megf9 |
A |
T |
4: 70,406,409 (GRCm39) |
C252* |
probably null |
Het |
| Mrgprg |
T |
C |
7: 143,318,333 (GRCm39) |
K260E |
possibly damaging |
Het |
| Nmi |
T |
A |
2: 51,840,081 (GRCm39) |
K220M |
possibly damaging |
Het |
| Nutm1 |
A |
C |
2: 112,081,388 (GRCm39) |
|
probably null |
Het |
| Or2ag1b |
A |
T |
7: 106,288,670 (GRCm39) |
D89E |
probably benign |
Het |
| Or8k16 |
C |
T |
2: 85,520,343 (GRCm39) |
S190L |
probably damaging |
Het |
| Pde4b |
T |
A |
4: 102,287,359 (GRCm39) |
I34N |
probably damaging |
Het |
| Perm1 |
C |
A |
4: 156,303,130 (GRCm39) |
A558D |
probably damaging |
Het |
| Pgpep1 |
A |
G |
8: 71,103,265 (GRCm39) |
I203T |
probably benign |
Het |
| Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,098,521 (GRCm39) |
G1342C |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,098,522 (GRCm39) |
G1342V |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,106 (GRCm39) |
I512F |
possibly damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,400,110 (GRCm39) |
F183L |
probably damaging |
Het |
| Slc13a1 |
T |
C |
6: 24,137,094 (GRCm39) |
R107G |
probably damaging |
Het |
| Spag5 |
C |
T |
11: 78,205,008 (GRCm39) |
Q598* |
probably null |
Het |
| Spata6 |
T |
A |
4: 111,636,476 (GRCm39) |
F256I |
probably damaging |
Het |
| Tnnt1 |
C |
A |
7: 4,517,333 (GRCm39) |
|
probably null |
Het |
| Top2b |
T |
A |
14: 16,398,991 (GRCm38) |
L537Q |
probably damaging |
Het |
| Unc79 |
G |
A |
12: 103,027,647 (GRCm39) |
E413K |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,262,487 (GRCm39) |
F214L |
probably damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,899,996 (GRCm39) |
C636Y |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,037,703 (GRCm39) |
N917S |
probably damaging |
Het |
| Zfp317 |
T |
C |
9: 19,556,550 (GRCm39) |
S53P |
probably damaging |
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 |
|
R6527:Flacc1
|
UTSW |
1 |
58,731,572 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
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'- AGACAATCCTCCTCCAACTTGG -3'
(R):5'- CCAGTCTGGAACCAGTACTG -3'
Sequencing Primer
(F):5'- GAGGATGAACTGCCCCTTTTAAG -3'
(R):5'- CAGTCTGGAACCAGTACTGTTTTCAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation