Incidental Mutation 'R4305:Cfap47'
| ID |
324014 |
| 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 |
041091-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R4305 (G1)
|
| Quality Score |
222 |
|
Status
|
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: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
92% (36/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
| Abl2 |
T |
A |
1: 156,469,133 (GRCm39) |
M695K |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,279,482 (GRCm39) |
I426T |
probably damaging |
Het |
| Atxn7l1 |
T |
C |
12: 33,391,991 (GRCm39) |
M93T |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 123,925,111 (GRCm39) |
L238P |
possibly damaging |
Het |
| Cd27 |
A |
G |
6: 125,211,633 (GRCm39) |
V98A |
probably benign |
Het |
| Ceacam23 |
T |
A |
7: 17,639,118 (GRCm39) |
Y372N |
probably benign |
Het |
| Chrdl2 |
A |
G |
7: 99,671,229 (GRCm39) |
T116A |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,346,883 (GRCm39) |
|
probably null |
Het |
| Garin1b |
A |
G |
6: 29,326,611 (GRCm39) |
S243G |
probably damaging |
Het |
| Gart |
T |
C |
16: 91,430,880 (GRCm39) |
E394G |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lpar6 |
G |
A |
14: 73,476,381 (GRCm39) |
R114Q |
probably damaging |
Het |
| Med23 |
G |
T |
10: 24,780,168 (GRCm39) |
E573* |
probably null |
Het |
| Mtch2 |
A |
G |
2: 90,689,827 (GRCm39) |
I183V |
probably benign |
Het |
| Nlrp3 |
C |
T |
11: 59,438,836 (GRCm39) |
R138* |
probably null |
Het |
| Notch1 |
T |
C |
2: 26,367,936 (GRCm39) |
D657G |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,643 (GRCm39) |
D293G |
probably null |
Het |
| Rbm20 |
A |
G |
19: 53,831,691 (GRCm39) |
S642G |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,748,681 (GRCm39) |
S4123G |
probably benign |
Het |
| Ugt3a1 |
A |
C |
15: 9,306,360 (GRCm39) |
S170R |
possibly damaging |
Het |
| Vmn2r71 |
G |
T |
7: 85,273,360 (GRCm39) |
D725Y |
probably damaging |
Het |
| Vps9d1 |
G |
T |
8: 123,974,976 (GRCm39) |
|
probably benign |
Het |
| Yeats2 |
A |
G |
16: 20,027,172 (GRCm39) |
T808A |
probably damaging |
Het |
| Zdhhc4 |
C |
T |
5: 143,310,099 (GRCm39) |
|
probably benign |
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 |
|
R4304: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'- GGGGAAAAGCACTGTTTTGAACATG -3'
(R):5'- ATTGCTTATAAATCCCCGTGGTG -3'
Sequencing Primer
(F):5'- GAAAATCACATCACAGCTATGTAGG -3'
(R):5'- ATCCCCGTGGTGAAAATATGTTGC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation