Incidental Mutation 'R5863:Flacc1'
| ID |
453992 |
| 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 |
043232-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R5863 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
58696085-58735167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 58730908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 49
(H49Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055313]
[ENSMUST00000188772]
[ENSMUST00000191252]
[ENSMUST00000191565]
|
| AlphaFold |
Q8BVM7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055313
AA Change: H49Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000062497
Gene: ENSMUSG00000047528
AA Change: H49Q
| 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: H49Q
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000140780
Gene: ENSMUSG00000047528
AA Change: H49Q
| 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: H49Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191565
AA Change: H49Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139420
Gene: ENSMUSG00000047528
AA Change: H49Q
| 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 |
0.0690 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,580,287 (GRCm39) |
I204T |
possibly damaging |
Het |
| Abcc2 |
A |
G |
19: 43,786,575 (GRCm39) |
I136V |
probably benign |
Het |
| Adam6a |
T |
C |
12: 113,507,987 (GRCm39) |
I120T |
probably benign |
Het |
| Add3 |
C |
A |
19: 53,222,301 (GRCm39) |
L303I |
probably benign |
Het |
| Anln |
A |
G |
9: 22,249,280 (GRCm39) |
L149P |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,761,926 (GRCm39) |
E394G |
unknown |
Het |
| Asns |
G |
A |
6: 7,675,443 (GRCm39) |
Q520* |
probably null |
Het |
| Auh |
T |
G |
13: 53,052,694 (GRCm39) |
N141T |
probably benign |
Het |
| B3galt2 |
G |
A |
1: 143,522,104 (GRCm39) |
R80Q |
probably benign |
Het |
| Bcl9 |
T |
C |
3: 97,117,666 (GRCm39) |
T343A |
probably benign |
Het |
| C3 |
T |
A |
17: 57,530,141 (GRCm39) |
I487F |
probably benign |
Het |
| Cast |
T |
C |
13: 74,884,875 (GRCm39) |
K326E |
probably damaging |
Het |
| Ccdc185 |
T |
A |
1: 182,576,122 (GRCm39) |
H189L |
possibly damaging |
Het |
| Cep112 |
A |
G |
11: 108,497,058 (GRCm39) |
E51G |
probably damaging |
Het |
| Cpvl |
G |
A |
6: 53,850,413 (GRCm39) |
P475S |
probably damaging |
Het |
| Cstf2t |
G |
T |
19: 31,060,477 (GRCm39) |
L4F |
probably damaging |
Het |
| Dido1 |
A |
G |
2: 180,303,566 (GRCm39) |
V1446A |
probably benign |
Het |
| Dlg2 |
T |
A |
7: 91,360,987 (GRCm39) |
M35K |
probably benign |
Het |
| Dnah12 |
C |
T |
14: 26,576,878 (GRCm39) |
L3043F |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,053,863 (GRCm39) |
S1225P |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,258,810 (GRCm39) |
F1443S |
probably benign |
Het |
| Gm14226 |
C |
A |
2: 154,866,211 (GRCm39) |
T56N |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,881,748 (GRCm39) |
R766W |
probably damaging |
Het |
| Kcnj8 |
T |
A |
6: 142,511,414 (GRCm39) |
I398F |
probably benign |
Het |
| Khdrbs1 |
G |
A |
4: 129,616,493 (GRCm39) |
R284C |
probably damaging |
Het |
| Nog |
A |
G |
11: 89,192,356 (GRCm39) |
L164P |
probably damaging |
Het |
| Or13a18 |
G |
A |
7: 140,190,544 (GRCm39) |
G155D |
probably damaging |
Het |
| Or8c20 |
T |
C |
9: 38,261,083 (GRCm39) |
S235P |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,590,434 (GRCm39) |
Q1771L |
possibly damaging |
Het |
| Prl3c1 |
T |
A |
13: 27,387,593 (GRCm39) |
*193K |
probably null |
Het |
| Prpf4b |
T |
A |
13: 35,083,111 (GRCm39) |
I829N |
possibly damaging |
Het |
| Rassf1 |
C |
T |
9: 107,435,023 (GRCm39) |
P103S |
probably damaging |
Het |
| Rdh16f2 |
A |
C |
10: 127,712,256 (GRCm39) |
I238L |
probably benign |
Het |
| Sdk2 |
G |
T |
11: 113,725,810 (GRCm39) |
D1146E |
probably damaging |
Het |
| Slc16a3 |
T |
C |
11: 120,848,779 (GRCm39) |
F412L |
probably benign |
Het |
| Slc24a1 |
T |
C |
9: 64,835,824 (GRCm39) |
T768A |
unknown |
Het |
| Stk32a |
A |
G |
18: 43,448,209 (GRCm39) |
N396S |
probably benign |
Het |
| Ston1 |
T |
C |
17: 88,943,373 (GRCm39) |
S260P |
possibly damaging |
Het |
| Tmem135 |
A |
G |
7: 88,797,176 (GRCm39) |
|
probably null |
Het |
| Tmem30c |
A |
G |
16: 57,090,418 (GRCm39) |
V263A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,587,102 (GRCm39) |
T21632S |
probably damaging |
Het |
| Ube2w |
A |
G |
1: 16,655,531 (GRCm39) |
I141T |
probably damaging |
Het |
| Zbtb47 |
A |
G |
9: 121,596,596 (GRCm39) |
S651G |
probably benign |
Het |
| Zscan20 |
A |
T |
4: 128,480,141 (GRCm39) |
C783* |
probably null |
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 |
|
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'- CTAGGGTAATTTGTTGGCACAG -3'
(R):5'- TCGTGCTGATGACCAGGAGATAG -3'
Sequencing Primer
(F):5'- CAGGGCCTCAGTGAAGAAGTCC -3'
(R):5'- TAGATAAGAACCTGCACCTTGG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation