Incidental Mutation 'R8396:Cfap58'
ID |
647630 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap58
|
Ensembl Gene |
ENSMUSG00000046585 |
Gene Name |
cilia and flagella associated protein 58 |
Synonyms |
Ccdc147, LOC381229 |
MMRRC Submission |
067812-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R8396 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
47926151-48023818 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 48017540 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 800
(M800K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070533
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066308]
|
AlphaFold |
B2RW38 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066308
AA Change: M800K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000070533 Gene: ENSMUSG00000046585 AA Change: M800K
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgef3 |
A |
G |
10: 18,528,280 (GRCm39) |
|
probably null |
Het |
Arid1a |
T |
C |
4: 133,479,973 (GRCm39) |
Y317C |
probably damaging |
Het |
Asxl2 |
A |
G |
12: 3,552,220 (GRCm39) |
T1321A |
probably benign |
Het |
Bckdk |
A |
G |
7: 127,504,931 (GRCm39) |
Y129C |
probably damaging |
Het |
Birc2 |
A |
G |
9: 7,834,301 (GRCm39) |
V60A |
probably benign |
Het |
Bmp8a |
T |
C |
4: 123,218,952 (GRCm39) |
H152R |
probably benign |
Het |
C3 |
T |
C |
17: 57,528,029 (GRCm39) |
H730R |
probably benign |
Het |
Ccser1 |
T |
A |
6: 61,289,088 (GRCm39) |
V417E |
probably benign |
Het |
Clip1 |
A |
G |
5: 123,780,627 (GRCm39) |
L352P |
probably damaging |
Het |
Cr2 |
A |
G |
1: 194,840,376 (GRCm39) |
L522P |
probably damaging |
Het |
Ctcf |
T |
A |
8: 106,393,379 (GRCm39) |
H347Q |
possibly damaging |
Het |
Gm13271 |
A |
T |
4: 88,673,318 (GRCm39) |
M72L |
probably benign |
Het |
Gpat4 |
GTGTT |
GT |
8: 23,669,498 (GRCm39) |
|
probably benign |
Het |
Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
Irx5 |
G |
A |
8: 93,086,962 (GRCm39) |
G298D |
probably benign |
Het |
Klf5 |
T |
C |
14: 99,539,670 (GRCm39) |
I361T |
possibly damaging |
Het |
Lsm11 |
G |
A |
11: 45,835,591 (GRCm39) |
A50V |
probably benign |
Het |
Map1b |
T |
C |
13: 99,570,621 (GRCm39) |
K700R |
unknown |
Het |
Muc5b |
A |
T |
7: 141,405,552 (GRCm39) |
T954S |
unknown |
Het |
Nhsl1 |
A |
G |
10: 18,400,910 (GRCm39) |
N678S |
probably benign |
Het |
Npsr1 |
T |
A |
9: 24,221,377 (GRCm39) |
I277N |
possibly damaging |
Het |
Ntsr2 |
A |
G |
12: 16,706,821 (GRCm39) |
H283R |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,893,829 (GRCm39) |
I6746N |
probably benign |
Het |
Obsl1 |
T |
C |
1: 75,480,350 (GRCm39) |
T425A |
probably benign |
Het |
Pag1 |
T |
A |
3: 9,759,112 (GRCm39) |
E335D |
probably benign |
Het |
Parp3 |
T |
A |
9: 106,351,447 (GRCm39) |
Q223L |
probably benign |
Het |
Pogz |
T |
C |
3: 94,786,061 (GRCm39) |
V883A |
probably benign |
Het |
Rsbn1l |
A |
T |
5: 21,132,665 (GRCm39) |
M198K |
probably benign |
Het |
Sh3bgr |
A |
G |
16: 96,007,680 (GRCm39) |
|
probably null |
Het |
Shc4 |
A |
G |
2: 125,471,617 (GRCm39) |
I600T |
probably damaging |
Het |
Slc26a1 |
T |
C |
5: 108,821,715 (GRCm39) |
H74R |
probably benign |
Het |
Slc7a11 |
A |
C |
3: 50,338,578 (GRCm39) |
I277S |
possibly damaging |
Het |
Tep1 |
G |
T |
14: 51,074,529 (GRCm39) |
T1832N |
probably benign |
Het |
Terf2 |
A |
G |
8: 107,809,613 (GRCm39) |
|
probably null |
Het |
Tle4 |
G |
A |
19: 14,432,323 (GRCm39) |
Q458* |
probably null |
Het |
Trim34b |
A |
T |
7: 103,979,083 (GRCm39) |
D110V |
probably damaging |
Het |
Usp9y |
A |
T |
Y: 1,308,034 (GRCm39) |
N2267K |
possibly damaging |
Het |
Vmn2r50 |
G |
A |
7: 9,781,639 (GRCm39) |
Q369* |
probably null |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
Zfp229 |
T |
C |
17: 21,965,077 (GRCm39) |
S436P |
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 |
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 |
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'- GGCAGCTCTGAGAAATTCATCAAAC -3'
Sequencing Primer
(F):5'- TTGAAACCCGGTTTGGACAG -3'
(R):5'- GCTTCCCGAATGCTACGATTAAAGG -3'
|
Posted On |
2020-09-02 |