Incidental Mutation 'R4304:Cfap47'
| ID |
322552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap47
|
| Ensembl Gene |
|
| Gene Name |
cilia and flagella associated protein 47 |
| Synonyms |
Gm3297, Gm7173, Gm8787, Gm16462, Chdc2 |
| MMRRC Submission |
040865-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R4304 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
78310165-78560891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 78541635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 469
(K469N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101410]
[ENSMUST00000197180]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101410
AA Change: K469N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098956
Gene: ENSMUSG00000073077
AA Change: K469N
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1grwa_
|
390 |
460 |
1e-2 |
SMART |
|
low complexity region
|
597 |
608 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
676 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197180
AA Change: K469N
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000142707
Gene: ENSMUSG00000073077
AA Change: K469N
| 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 |
|
| Meta Mutation Damage Score |
0.1961 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,391,545 (GRCm39) |
M323K |
probably damaging |
Het |
| Arhgap42 |
A |
G |
9: 9,006,489 (GRCm39) |
S636P |
probably benign |
Het |
| Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,405,643 (GRCm39) |
Q1630* |
probably null |
Het |
| Cfap157 |
G |
A |
2: 32,669,054 (GRCm39) |
R350W |
probably damaging |
Het |
| Csgalnact1 |
A |
T |
8: 68,825,294 (GRCm39) |
V400D |
possibly damaging |
Het |
| Fam3d |
G |
A |
14: 8,349,324 (GRCm38) |
P209S |
probably damaging |
Het |
| Fig4 |
T |
A |
10: 41,132,423 (GRCm39) |
D461V |
probably benign |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Gcfc2 |
G |
A |
6: 81,919,988 (GRCm39) |
R397Q |
probably damaging |
Het |
| Gm20939 |
A |
C |
17: 95,184,709 (GRCm39) |
Q452H |
probably benign |
Het |
| Gm5592 |
A |
T |
7: 40,935,686 (GRCm39) |
M63L |
probably benign |
Het |
| H2-M3 |
T |
C |
17: 37,583,295 (GRCm39) |
M252T |
probably benign |
Het |
| Lsm14a |
C |
A |
7: 34,056,858 (GRCm39) |
|
probably null |
Het |
| Map4k4 |
T |
C |
1: 40,013,132 (GRCm39) |
Y76H |
possibly damaging |
Het |
| Npc1 |
C |
T |
18: 12,343,584 (GRCm39) |
A470T |
possibly damaging |
Het |
| Or4a68 |
A |
T |
2: 89,270,542 (GRCm39) |
V27D |
probably damaging |
Het |
| Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
| Resf1 |
C |
T |
6: 149,227,736 (GRCm39) |
Q261* |
probably null |
Het |
| Rptn |
C |
A |
3: 93,304,238 (GRCm39) |
H524N |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,530,058 (GRCm39) |
M240K |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,738,741 (GRCm39) |
I3503V |
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,172,941 (GRCm39) |
K625E |
probably benign |
Het |
| Stk10 |
T |
C |
11: 32,560,634 (GRCm39) |
V663A |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tpp1 |
T |
A |
7: 105,399,516 (GRCm39) |
D84V |
possibly damaging |
Het |
| Vmn1r238 |
T |
A |
18: 3,123,040 (GRCm39) |
R125* |
probably null |
Het |
| Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
| Wfdc15b |
A |
C |
2: 164,057,388 (GRCm39) |
M1R |
probably null |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
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 |
|
IGL01679:Cfap47
|
APN |
X |
78,376,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGAAAAGCACTGTTTTGAAC -3'
(R):5'- AATTGCTTATAAATCCCCGTGGTG -3'
Sequencing Primer
(F):5'- GAAAATCACATCACAGCTATGTAGG -3'
(R):5'- ATCCCCGTGGTGAAAATATGTTGC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation