Incidental Mutation 'R4233:Cfap58'
| ID |
320988 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap58
|
| Ensembl Gene |
ENSMUSG00000046585 |
| Gene Name |
cilia and flagella associated protein 58 |
| Synonyms |
Ccdc147, LOC381229 |
| MMRRC Submission |
041642-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R4233 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
47926151-48023818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 47963994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 541
(V541M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066308]
|
| AlphaFold |
B2RW38 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066308
AA Change: V541M
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000070533
Gene: ENSMUSG00000046585
AA Change: V541M
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
106 |
579 |
N/A |
INTRINSIC |
|
coiled coil region
|
642 |
706 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
762 |
N/A |
INTRINSIC |
|
coiled coil region
|
772 |
832 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0927 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
A |
T |
5: 138,562,454 (GRCm39) |
Y96N |
probably damaging |
Het |
| Abca15 |
C |
T |
7: 120,002,202 (GRCm39) |
Q1572* |
probably null |
Het |
| Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Aph1c |
A |
G |
9: 66,740,603 (GRCm39) |
F41S |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,227,628 (GRCm39) |
V458A |
possibly damaging |
Het |
| Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
| Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,388,540 (GRCm39) |
T169A |
possibly damaging |
Het |
| Coro2b |
T |
C |
9: 62,333,467 (GRCm39) |
E376G |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 117,880,526 (GRCm39) |
T3865A |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,134,360 (GRCm39) |
E1549G |
probably benign |
Het |
| Ercc6l2 |
T |
C |
13: 64,019,982 (GRCm39) |
|
probably benign |
Het |
| Fbxo32 |
G |
T |
15: 58,055,729 (GRCm39) |
T135K |
possibly damaging |
Het |
| Fhip2b |
A |
C |
14: 70,824,318 (GRCm39) |
V473G |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,862,235 (GRCm39) |
I2205F |
possibly damaging |
Het |
| Gm12034 |
A |
G |
11: 20,396,785 (GRCm39) |
|
noncoding transcript |
Het |
| Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5108 |
C |
A |
5: 68,132,496 (GRCm39) |
T55K |
unknown |
Het |
| Gpa33 |
A |
T |
1: 165,974,340 (GRCm39) |
D59V |
probably damaging |
Het |
| Gpn2 |
T |
A |
4: 133,312,016 (GRCm39) |
Y83N |
probably damaging |
Het |
| Gzf1 |
C |
T |
2: 148,528,453 (GRCm39) |
P460S |
possibly damaging |
Het |
| Ifi203 |
A |
T |
1: 173,764,099 (GRCm39) |
S124R |
possibly damaging |
Het |
| Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
| Ldlrap1 |
T |
A |
4: 134,484,649 (GRCm39) |
|
probably null |
Het |
| Madd |
T |
C |
2: 91,008,581 (GRCm39) |
E107G |
probably benign |
Het |
| Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
| Nxpe4 |
A |
T |
9: 48,310,137 (GRCm39) |
T467S |
probably damaging |
Het |
| Or52n4 |
A |
G |
7: 104,294,195 (GRCm39) |
V126A |
probably benign |
Het |
| Or7g30 |
T |
A |
9: 19,352,886 (GRCm39) |
L226I |
probably damaging |
Het |
| Pam |
A |
T |
1: 97,792,119 (GRCm39) |
V434D |
possibly damaging |
Het |
| Plxnd1 |
T |
C |
6: 115,942,914 (GRCm39) |
N1257D |
probably benign |
Het |
| Prkdc |
C |
T |
16: 15,653,783 (GRCm39) |
A3870V |
probably benign |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,765,611 (GRCm39) |
D1375G |
probably benign |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Slc13a2 |
A |
G |
11: 78,294,361 (GRCm39) |
|
probably benign |
Het |
| Slc7a13 |
T |
C |
4: 19,819,070 (GRCm39) |
F90S |
probably damaging |
Het |
| Spc24 |
T |
C |
9: 21,667,498 (GRCm39) |
|
probably null |
Het |
| Stard13 |
A |
G |
5: 150,986,164 (GRCm39) |
S331P |
probably benign |
Het |
| Sult2a8 |
T |
A |
7: 14,147,608 (GRCm39) |
I228L |
probably benign |
Het |
| Tas2r140 |
A |
T |
6: 133,031,915 (GRCm39) |
V281D |
probably damaging |
Het |
| Tmem38b |
T |
C |
4: 53,840,710 (GRCm39) |
C66R |
probably damaging |
Het |
| Tshz1 |
C |
A |
18: 84,034,320 (GRCm39) |
E29D |
probably benign |
Het |
| Zfp599 |
T |
A |
9: 22,161,041 (GRCm39) |
K375* |
probably null |
Het |
|
| Other mutations in Cfap58 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01688:Cfap58
|
APN |
19 |
47,963,006 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02068:Cfap58
|
APN |
19 |
47,974,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02609:Cfap58
|
APN |
19 |
47,963,941 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03376:Cfap58
|
APN |
19 |
48,023,164 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
PIT4515001:Cfap58
|
UTSW |
19 |
48,023,122 (GRCm39) |
missense |
probably benign |
|
|
PIT4618001:Cfap58
|
UTSW |
19 |
47,963,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Cfap58
|
UTSW |
19 |
48,017,539 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0015:Cfap58
|
UTSW |
19 |
48,017,539 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0454:Cfap58
|
UTSW |
19 |
47,963,119 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0545:Cfap58
|
UTSW |
19 |
47,929,536 (GRCm39) |
splice site |
probably benign |
|
|
R0789:Cfap58
|
UTSW |
19 |
47,943,748 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0926:Cfap58
|
UTSW |
19 |
47,951,001 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1148:Cfap58
|
UTSW |
19 |
47,976,943 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1148:Cfap58
|
UTSW |
19 |
47,976,943 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1462:Cfap58
|
UTSW |
19 |
47,950,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Cfap58
|
UTSW |
19 |
47,950,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1493:Cfap58
|
UTSW |
19 |
47,976,943 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1541:Cfap58
|
UTSW |
19 |
47,971,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1629:Cfap58
|
UTSW |
19 |
47,929,778 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1648:Cfap58
|
UTSW |
19 |
47,943,844 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1837:Cfap58
|
UTSW |
19 |
48,017,578 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2307:Cfap58
|
UTSW |
19 |
47,950,925 (GRCm39) |
nonsense |
probably null |
|
|
R2513:Cfap58
|
UTSW |
19 |
47,950,981 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3802:Cfap58
|
UTSW |
19 |
47,941,498 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4258:Cfap58
|
UTSW |
19 |
47,937,923 (GRCm39) |
splice site |
probably null |
|
|
R4414:Cfap58
|
UTSW |
19 |
47,941,480 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4763:Cfap58
|
UTSW |
19 |
47,971,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5300:Cfap58
|
UTSW |
19 |
47,929,595 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5406:Cfap58
|
UTSW |
19 |
48,017,541 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5497:Cfap58
|
UTSW |
19 |
48,017,548 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5635:Cfap58
|
UTSW |
19 |
47,971,981 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6315:Cfap58
|
UTSW |
19 |
47,929,716 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6483:Cfap58
|
UTSW |
19 |
47,971,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6727:Cfap58
|
UTSW |
19 |
47,943,856 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6896:Cfap58
|
UTSW |
19 |
47,932,626 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7461:Cfap58
|
UTSW |
19 |
47,970,561 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7473:Cfap58
|
UTSW |
19 |
47,963,064 (GRCm39) |
nonsense |
probably null |
|
|
R7613:Cfap58
|
UTSW |
19 |
47,970,561 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7650:Cfap58
|
UTSW |
19 |
47,974,967 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7982:Cfap58
|
UTSW |
19 |
47,963,006 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8083:Cfap58
|
UTSW |
19 |
47,971,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8121:Cfap58
|
UTSW |
19 |
48,017,543 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8321:Cfap58
|
UTSW |
19 |
47,946,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8396:Cfap58
|
UTSW |
19 |
48,017,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8462:Cfap58
|
UTSW |
19 |
47,972,089 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8745:Cfap58
|
UTSW |
19 |
47,929,553 (GRCm39) |
nonsense |
probably null |
|
|
R8805:Cfap58
|
UTSW |
19 |
47,941,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9049:Cfap58
|
UTSW |
19 |
48,015,157 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9142:Cfap58
|
UTSW |
19 |
47,974,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9358:Cfap58
|
UTSW |
19 |
47,962,987 (GRCm39) |
nonsense |
probably null |
|
|
R9709:Cfap58
|
UTSW |
19 |
47,963,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Cfap58
|
UTSW |
19 |
47,943,747 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAATTCCGTGCCATGTC -3'
(R):5'- TGAGACTTTGGGTCCCTTCC -3'
Sequencing Primer
(F):5'- CAATTCCGTGCCATGTCTATAAGG -3'
(R):5'- GACTTTGGGTCCCTTCCTTGGTC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation