Incidental Mutation 'IGL01679:Cfap47'
| ID |
103738 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cfap47
|
| Ensembl Gene |
|
| Gene Name |
cilia and flagella associated protein 47 |
| Synonyms |
Gm3297, Gm7173, Gm8787, Gm16462, Chdc2 |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
IGL01679
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
78310165-78560891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78376439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 266
(Y266H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114021]
[ENSMUST00000197180]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114021
AA Change: Y266H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109654
Gene: ENSMUSG00000073077
AA Change: Y266H
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
8 |
110 |
9.24e-5 |
PROSPERO |
|
internal_repeat_1
|
101 |
205 |
9.24e-5 |
PROSPERO |
|
low complexity region
|
223 |
234 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197180
AA Change: Y2483H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142707
Gene: ENSMUSG00000073077
AA Change: Y2483H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
597 |
608 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
1437 |
1450 |
N/A |
INTRINSIC |
|
low complexity region
|
1599 |
1611 |
N/A |
INTRINSIC |
|
CH
|
1679 |
1797 |
9e-6 |
SMART |
|
low complexity region
|
2440 |
2451 |
N/A |
INTRINSIC |
|
low complexity region
|
2578 |
2590 |
N/A |
INTRINSIC |
|
low complexity region
|
2901 |
2911 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199433
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,248,071 (GRCm39) |
M2606K |
probably benign |
Het |
| Abl2 |
A |
G |
1: 156,470,035 (GRCm39) |
I1100V |
probably benign |
Het |
| Atp2a1 |
T |
C |
7: 126,055,981 (GRCm39) |
N280S |
probably benign |
Het |
| Car8 |
G |
A |
4: 8,169,674 (GRCm39) |
T278I |
possibly damaging |
Het |
| Catsperb |
G |
A |
12: 101,557,841 (GRCm39) |
|
probably null |
Het |
| Cilk1 |
T |
C |
9: 78,047,307 (GRCm39) |
I69T |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,201,828 (GRCm39) |
E3378G |
probably damaging |
Het |
| Ctsq |
C |
T |
13: 61,186,722 (GRCm39) |
G94D |
probably benign |
Het |
| Entpd8 |
A |
G |
2: 24,974,378 (GRCm39) |
K388E |
probably benign |
Het |
| Gab1 |
C |
T |
8: 81,518,178 (GRCm39) |
A145T |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,233,038 (GRCm39) |
|
probably null |
Het |
| Gm6685 |
T |
C |
11: 28,289,586 (GRCm39) |
T77A |
possibly damaging |
Het |
| Miga2 |
A |
G |
2: 30,268,262 (GRCm39) |
K387R |
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,468,006 (GRCm39) |
V143A |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,114,752 (GRCm39) |
|
probably benign |
Het |
| Plekhg6 |
T |
C |
6: 125,351,942 (GRCm39) |
T201A |
probably benign |
Het |
| Pxdn |
T |
C |
12: 30,049,901 (GRCm39) |
S650P |
probably damaging |
Het |
| Rplp2 |
T |
G |
7: 141,028,679 (GRCm39) |
I55S |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,031,919 (GRCm39) |
D998G |
probably benign |
Het |
| Slc13a2 |
C |
A |
11: 78,295,537 (GRCm39) |
A110S |
probably damaging |
Het |
| Slc38a2 |
A |
T |
15: 96,595,835 (GRCm39) |
Y94* |
probably null |
Het |
| Smarcc1 |
A |
G |
9: 110,042,598 (GRCm39) |
R889G |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,339,936 (GRCm39) |
T364A |
probably benign |
Het |
| Zfp655 |
A |
G |
5: 145,180,637 (GRCm39) |
E165G |
probably damaging |
Het |
|
| Other mutations in Cfap47 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Cfap47
|
APN |
X |
78,532,764 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02025:Cfap47
|
APN |
X |
78,554,036 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02632:Cfap47
|
APN |
X |
78,540,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Cfap47
|
UTSW |
X |
78,553,507 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1551:Cfap47
|
UTSW |
X |
78,532,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2121:Cfap47
|
UTSW |
X |
78,553,927 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2124:Cfap47
|
UTSW |
X |
78,553,927 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2192:Cfap47
|
UTSW |
X |
78,454,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3725:Cfap47
|
UTSW |
X |
78,553,621 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4304:Cfap47
|
UTSW |
X |
78,541,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4305:Cfap47
|
UTSW |
X |
78,541,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4522:Cfap47
|
UTSW |
X |
78,553,601 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4523:Cfap47
|
UTSW |
X |
78,553,601 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
Z1088:Cfap47
|
UTSW |
X |
78,374,420 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Cfap47
|
UTSW |
X |
78,374,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation