Incidental Mutation 'IGL03098:Flacc1'
| ID |
452959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flacc1
|
| Ensembl Gene |
ENSMUSG00000047528 |
| Gene Name |
flagellum associated containing coiled-coil domains 1 |
| Synonyms |
Als2cr12, 4933405P16Rik, 4933425F06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL03098 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
92% (44/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Abca15 |
T |
C |
7: 119,987,499 (GRCm39) |
|
probably null |
Het |
| Adcy4 |
T |
C |
14: 56,019,038 (GRCm39) |
Q173R |
probably null |
Het |
| Arhgef19 |
A |
G |
4: 140,974,879 (GRCm39) |
D113G |
possibly damaging |
Het |
| Btbd6 |
A |
G |
12: 112,942,038 (GRCm39) |
E501G |
probably damaging |
Het |
| Btnl2 |
T |
C |
17: 34,584,190 (GRCm39) |
V371A |
probably benign |
Het |
| Cd84 |
G |
T |
1: 171,700,267 (GRCm39) |
R128L |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Dsg3 |
A |
T |
18: 20,643,422 (GRCm39) |
|
probably benign |
Het |
| Efnb2 |
A |
T |
8: 8,713,420 (GRCm39) |
|
probably benign |
Het |
| Fam24b |
T |
C |
7: 130,927,977 (GRCm39) |
S71G |
probably benign |
Het |
| Hgd |
G |
A |
16: 37,436,607 (GRCm39) |
C180Y |
probably benign |
Het |
| Hjurp |
TGGG |
TTGCGGG |
1: 88,194,002 (GRCm39) |
|
probably benign |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Kcmf1 |
A |
T |
6: 72,826,567 (GRCm39) |
M1K |
probably null |
Het |
| Letm2 |
T |
A |
8: 26,071,745 (GRCm39) |
T386S |
possibly damaging |
Het |
| Lvrn |
A |
T |
18: 47,014,477 (GRCm39) |
|
probably null |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nid2 |
G |
A |
14: 19,856,006 (GRCm39) |
D1244N |
probably damaging |
Het |
| Nvl |
G |
T |
1: 180,921,471 (GRCm39) |
Q843K |
probably benign |
Het |
| Obi1 |
T |
C |
14: 104,716,253 (GRCm39) |
I707V |
possibly damaging |
Het |
| Or1e30 |
T |
G |
11: 73,678,529 (GRCm39) |
I255S |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,143,891 (GRCm39) |
I726N |
probably damaging |
Het |
| Rab25 |
A |
T |
3: 88,449,567 (GRCm39) |
C209S |
probably damaging |
Het |
| Rgs6 |
A |
T |
12: 83,032,150 (GRCm39) |
I21F |
probably damaging |
Het |
| Rnf10 |
T |
C |
5: 115,410,426 (GRCm39) |
D16G |
probably damaging |
Het |
| Rnmt |
G |
A |
18: 68,439,073 (GRCm39) |
V61M |
probably damaging |
Het |
| Rrs1 |
GCTC |
GC |
1: 9,616,328 (GRCm39) |
|
probably null |
Het |
| Scd4 |
A |
T |
19: 44,321,931 (GRCm39) |
M1L |
possibly damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
G |
12: 76,668,273 (GRCm39) |
I608T |
probably damaging |
Het |
| Sstr5 |
A |
G |
17: 25,710,251 (GRCm39) |
V326A |
probably benign |
Het |
| Sugct |
T |
C |
13: 17,846,321 (GRCm39) |
D62G |
probably damaging |
Het |
| Thada |
C |
G |
17: 84,641,569 (GRCm39) |
D1306H |
possibly damaging |
Het |
| Thap1 |
C |
G |
8: 26,652,498 (GRCm39) |
P79A |
probably benign |
Het |
| Tra2a |
G |
A |
6: 49,225,969 (GRCm39) |
S157L |
probably damaging |
Het |
| Trappc10 |
C |
T |
10: 78,050,520 (GRCm39) |
R307Q |
probably damaging |
Het |
| Trim9 |
A |
G |
12: 70,327,467 (GRCm39) |
I390T |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,228,230 (GRCm39) |
V765A |
probably benign |
Het |
| Wdr90 |
C |
A |
17: 26,078,961 (GRCm39) |
|
probably benign |
Het |
| Ybey |
A |
T |
10: 76,304,078 (GRCm39) |
C41* |
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 |
|
|
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 |
|
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'- ACCTAGGGTAATTTGTTGGCACAG -3'
(R):5'- CGTGCTGATGACCAGGAGATAG -3'
Sequencing Primer
(F):5'- CAGGGCCTCAGTGAAGAAGTCC -3'
(R):5'- TAGATAAGAACCTGCACCTTGG -3'
|
| Posted On |
2017-01-24 |
Incidental Mutation