Incidental Mutation 'IGL00561:Fcf1'
| ID |
28686 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fcf1
|
| Ensembl Gene |
ENSMUSG00000021243 |
| Gene Name |
FCF1 rRNA processing protein |
| Synonyms |
1110008B24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.924)
|
| Stock # |
IGL00561
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
85017704-85030077 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85019835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 36
(V36A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021669]
[ENSMUST00000043169]
[ENSMUST00000163231]
[ENSMUST00000165886]
[ENSMUST00000167448]
[ENSMUST00000171040]
|
| AlphaFold |
Q9CTH6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021669
AA Change: V48A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021669
Gene: ENSMUSG00000021243
AA Change: V48A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
|
PINc
|
67 |
166 |
5.75e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043169
|
| SMART Domains |
Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
19 |
N/A |
INTRINSIC |
|
IG_FLMN
|
56 |
160 |
4.53e-2 |
SMART |
|
low complexity region
|
346 |
360 |
N/A |
INTRINSIC |
|
Blast:HECTc
|
401 |
474 |
6e-39 |
BLAST |
|
HECTc
|
481 |
823 |
1.04e-158 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163231
|
| SMART Domains |
Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
19 |
N/A |
INTRINSIC |
|
IG_FLMN
|
56 |
160 |
4.53e-2 |
SMART |
|
low complexity region
|
346 |
360 |
N/A |
INTRINSIC |
|
Blast:HECTc
|
386 |
474 |
1e-51 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165886
|
| SMART Domains |
Protein: ENSMUSP00000126508
Gene: ENSMUSG00000042350
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167448
|
| SMART Domains |
Protein: ENSMUSP00000127426
Gene: ENSMUSG00000042350
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171040
AA Change: V36A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131190
Gene: ENSMUSG00000021243
AA Change: V36A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
28 |
N/A |
INTRINSIC |
|
PINc
|
55 |
154 |
5.75e-12 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
T |
A |
4: 73,860,956 (GRCm39) |
T215S |
possibly damaging |
Het |
| Bcl6b |
T |
C |
11: 70,119,310 (GRCm39) |
|
probably benign |
Het |
| C8a |
G |
A |
4: 104,722,642 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
G |
A |
2: 125,405,643 (GRCm39) |
Q1630* |
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,172,603 (GRCm39) |
N285S |
possibly damaging |
Het |
| Elovl5 |
G |
A |
9: 77,868,256 (GRCm39) |
R56Q |
probably benign |
Het |
| Gdf3 |
A |
G |
6: 122,584,085 (GRCm39) |
L94P |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,450,836 (GRCm39) |
H705L |
probably damaging |
Het |
| Ly75 |
A |
T |
2: 60,206,421 (GRCm39) |
C83S |
probably damaging |
Het |
| Med12l |
T |
A |
3: 59,135,245 (GRCm39) |
S798T |
probably benign |
Het |
| Morc3 |
G |
T |
16: 93,670,283 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
T |
2: 52,096,117 (GRCm39) |
N1049K |
probably benign |
Het |
| Nlrp6 |
A |
G |
7: 140,503,037 (GRCm39) |
D381G |
probably damaging |
Het |
| Pcnx1 |
A |
T |
12: 82,042,827 (GRCm39) |
D2303V |
probably damaging |
Het |
| Prss45 |
A |
T |
9: 110,669,578 (GRCm39) |
N227I |
probably damaging |
Het |
| Rbbp6 |
G |
A |
7: 122,570,286 (GRCm39) |
M34I |
probably damaging |
Het |
| Slc30a7 |
T |
C |
3: 115,740,369 (GRCm39) |
|
probably null |
Het |
| Smpdl3a |
T |
C |
10: 57,684,042 (GRCm39) |
Y267H |
probably benign |
Het |
| Snw1 |
A |
G |
12: 87,497,574 (GRCm39) |
|
probably null |
Het |
| Sp140 |
G |
A |
1: 85,549,393 (GRCm39) |
R208K |
probably benign |
Het |
| Tbx19 |
A |
G |
1: 164,987,968 (GRCm39) |
V55A |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,850,508 (GRCm39) |
S1059P |
probably damaging |
Het |
| Tpo |
G |
A |
12: 30,134,619 (GRCm39) |
P780S |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,570,055 (GRCm39) |
T26946M |
probably damaging |
Het |
| Vps33b |
A |
G |
7: 79,935,591 (GRCm39) |
E372G |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,619,684 (GRCm39) |
V1454A |
possibly damaging |
Het |
| Zbbx |
C |
T |
3: 74,968,839 (GRCm39) |
|
probably null |
Het |
| Zfp747l1 |
T |
A |
7: 126,985,716 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fcf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Fcf1
|
APN |
12 |
85,029,106 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02319:Fcf1
|
APN |
12 |
85,017,982 (GRCm39) |
splice site |
probably null |
|
|
H8562:Fcf1
|
UTSW |
12 |
85,027,386 (GRCm39) |
splice site |
probably benign |
|
|
R0387:Fcf1
|
UTSW |
12 |
85,019,776 (GRCm39) |
missense |
probably benign |
|
|
R4790:Fcf1
|
UTSW |
12 |
85,020,902 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5823:Fcf1
|
UTSW |
12 |
85,020,921 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6050:Fcf1
|
UTSW |
12 |
85,029,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9405:Fcf1
|
UTSW |
12 |
85,021,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation