Incidental Mutation 'R5406:Cfap58'
| ID |
426303 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap58
|
| Ensembl Gene |
ENSMUSG00000046585 |
| Gene Name |
cilia and flagella associated protein 58 |
| Synonyms |
Ccdc147, LOC381229 |
| MMRRC Submission |
042976-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R5406 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
47926151-48023818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 48017541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 800
(M800I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066308]
|
| AlphaFold |
B2RW38 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066308
AA Change: M800I
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000070533
Gene: ENSMUSG00000046585
AA Change: M800I
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
T |
9: 4,309,387 (GRCm39) |
V17D |
probably damaging |
Het |
| Abcb1a |
C |
A |
5: 8,752,946 (GRCm39) |
Q566K |
probably damaging |
Het |
| Adam26a |
A |
T |
8: 44,022,141 (GRCm39) |
C450S |
probably damaging |
Het |
| Adar |
C |
T |
3: 89,643,418 (GRCm39) |
P433L |
probably damaging |
Het |
| Aldh1a2 |
G |
T |
9: 71,162,403 (GRCm39) |
A151S |
possibly damaging |
Het |
| Arsk |
T |
A |
13: 76,242,066 (GRCm39) |
H69L |
probably benign |
Het |
| Atf6b |
T |
A |
17: 34,872,771 (GRCm39) |
Y600* |
probably null |
Het |
| Blk |
C |
A |
14: 63,618,180 (GRCm39) |
G242V |
probably damaging |
Het |
| Bmt2 |
A |
T |
6: 13,677,831 (GRCm39) |
M1K |
probably null |
Het |
| Catsperg1 |
G |
A |
7: 28,884,948 (GRCm39) |
T891M |
probably damaging |
Het |
| Ccdc32 |
A |
C |
2: 118,852,560 (GRCm39) |
S131A |
possibly damaging |
Het |
| Cdh8 |
A |
G |
8: 99,923,002 (GRCm39) |
V298A |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,837,720 (GRCm39) |
Q1060L |
probably benign |
Het |
| Cntn5 |
A |
T |
9: 9,833,465 (GRCm39) |
V362D |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| G2e3 |
T |
C |
12: 51,419,449 (GRCm39) |
S699P |
probably damaging |
Het |
| Gbp4 |
G |
T |
5: 105,267,387 (GRCm39) |
Q511K |
possibly damaging |
Het |
| Gdap2 |
T |
A |
3: 100,098,991 (GRCm39) |
I361N |
probably damaging |
Het |
| Ino80c |
T |
A |
18: 24,245,819 (GRCm39) |
H92L |
probably benign |
Het |
| Lipo4 |
A |
G |
19: 33,480,618 (GRCm39) |
V250A |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,604,010 (GRCm39) |
R1055W |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,835,138 (GRCm39) |
|
probably null |
Het |
| Mmp1a |
A |
G |
9: 7,467,294 (GRCm39) |
E290G |
probably damaging |
Het |
| Ncstn |
A |
G |
1: 171,899,731 (GRCm39) |
V317A |
probably benign |
Het |
| Nfxl1 |
G |
A |
5: 72,713,541 (GRCm39) |
T134I |
possibly damaging |
Het |
| Nup155 |
A |
T |
15: 8,183,122 (GRCm39) |
|
probably null |
Het |
| Nup214 |
C |
A |
2: 31,892,619 (GRCm39) |
P680T |
probably damaging |
Het |
| Or6c212 |
G |
A |
10: 129,558,799 (GRCm39) |
L205F |
probably damaging |
Het |
| Or7h8 |
A |
G |
9: 20,124,454 (GRCm39) |
K270E |
probably benign |
Het |
| Or8b12 |
A |
G |
9: 37,657,943 (GRCm39) |
N171S |
probably benign |
Het |
| Or8b9 |
G |
A |
9: 37,766,515 (GRCm39) |
V134I |
probably benign |
Het |
| Pkd2 |
T |
C |
5: 104,628,198 (GRCm39) |
F424S |
probably damaging |
Het |
| Plb1 |
A |
G |
5: 32,499,259 (GRCm39) |
D1074G |
probably damaging |
Het |
| Ppm1l |
T |
C |
3: 69,224,927 (GRCm39) |
S10P |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,331,634 (GRCm39) |
H2281R |
probably damaging |
Het |
| Rpa2 |
G |
T |
4: 132,503,559 (GRCm39) |
A3S |
probably benign |
Het |
| Sardh |
A |
G |
2: 27,101,096 (GRCm39) |
V698A |
possibly damaging |
Het |
| Saxo2 |
A |
T |
7: 82,284,586 (GRCm39) |
C91S |
probably benign |
Het |
| Slc3a2 |
T |
C |
19: 8,685,406 (GRCm39) |
D198G |
probably damaging |
Het |
| Spata31d1d |
T |
A |
13: 59,876,592 (GRCm39) |
E314D |
probably benign |
Het |
| Sptlc3 |
T |
C |
2: 139,388,398 (GRCm39) |
V130A |
probably benign |
Het |
| Stpg3 |
C |
A |
2: 25,103,580 (GRCm39) |
E115* |
probably null |
Het |
| Tbcd |
T |
A |
11: 121,342,927 (GRCm39) |
D19E |
probably benign |
Het |
| Xrcc3 |
T |
C |
12: 111,778,545 (GRCm39) |
D2G |
probably damaging |
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 |
|
R4233:Cfap58
|
UTSW |
19 |
47,963,994 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
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 |
|
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'- CTGTTGTAGTTTGAAACCCGG -3'
(R):5'- ATTGGCAGCTCTGAGAAATTCATC -3'
Sequencing Primer
(F):5'- TTGAAACCCGGTTTGGACAG -3'
(R):5'- GCTTCCCGAATGCTACGATTAAAGG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation