Incidental Mutation 'R7982:Cfap58'
ID |
651299 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap58
|
Ensembl Gene |
ENSMUSG00000046585 |
Gene Name |
cilia and flagella associated protein 58 |
Synonyms |
Ccdc147, LOC381229 |
MMRRC Submission |
046023-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R7982 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
47926151-48023818 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 47963006 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 472
(D472G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070533
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066308]
|
AlphaFold |
B2RW38 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066308
AA Change: D472G
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000070533 Gene: ENSMUSG00000046585 AA Change: D472G
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: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
A |
G |
1: 75,150,284 (GRCm39) |
S625P |
probably damaging |
Het |
Actl6b |
A |
G |
5: 137,561,424 (GRCm39) |
N142S |
probably benign |
Het |
Ank1 |
A |
T |
8: 23,609,397 (GRCm39) |
D1363V |
probably damaging |
Het |
Aox4 |
A |
C |
1: 58,296,400 (GRCm39) |
L1032F |
possibly damaging |
Het |
Atosb |
T |
C |
4: 43,034,483 (GRCm39) |
T371A |
probably damaging |
Het |
Bcl2l15 |
T |
C |
3: 103,740,158 (GRCm39) |
M4T |
probably damaging |
Het |
Cand1 |
A |
T |
10: 119,052,378 (GRCm39) |
S242R |
probably damaging |
Het |
Cant1 |
A |
T |
11: 118,300,968 (GRCm39) |
V229D |
probably benign |
Het |
Ccdc117 |
A |
G |
11: 5,481,460 (GRCm39) |
S224P |
possibly damaging |
Het |
Cdc42ep4 |
T |
C |
11: 113,619,402 (GRCm39) |
R330G |
possibly damaging |
Het |
Cep164 |
T |
C |
9: 45,690,162 (GRCm39) |
E527G |
probably benign |
Het |
Cln6 |
A |
C |
9: 62,756,450 (GRCm39) |
K198T |
possibly damaging |
Het |
Col4a4 |
G |
A |
1: 82,549,162 (GRCm39) |
|
probably benign |
Het |
Cyp1b1 |
T |
C |
17: 80,017,919 (GRCm39) |
Y412C |
probably damaging |
Het |
Dhx30 |
A |
T |
9: 109,914,524 (GRCm39) |
L991Q |
probably damaging |
Het |
Dst |
C |
T |
1: 34,221,621 (GRCm39) |
T2475I |
possibly damaging |
Het |
Exoc8 |
A |
T |
8: 125,623,149 (GRCm39) |
V406E |
probably damaging |
Het |
Grk6 |
T |
A |
13: 55,599,519 (GRCm39) |
C201S |
probably damaging |
Het |
Helz |
T |
C |
11: 107,517,456 (GRCm39) |
V664A |
possibly damaging |
Het |
Hsd17b11 |
A |
G |
5: 104,151,090 (GRCm39) |
C215R |
possibly damaging |
Het |
Ift25 |
T |
C |
4: 107,132,480 (GRCm39) |
V89A |
probably benign |
Het |
Kbtbd12 |
T |
C |
6: 88,595,616 (GRCm39) |
I71M |
possibly damaging |
Het |
Khdc1a |
A |
T |
1: 21,421,130 (GRCm39) |
H105L |
probably benign |
Het |
Klf6 |
T |
A |
13: 5,911,822 (GRCm39) |
L62Q |
probably damaging |
Het |
Mc1r |
A |
G |
8: 124,134,879 (GRCm39) |
R211G |
probably damaging |
Het |
Nt5m |
T |
A |
11: 59,739,157 (GRCm39) |
W68R |
possibly damaging |
Het |
Nufip1 |
T |
C |
14: 76,363,679 (GRCm39) |
V301A |
probably benign |
Het |
Or10ac1 |
T |
A |
6: 42,515,225 (GRCm39) |
T244S |
probably damaging |
Het |
Or12d14-ps1 |
T |
G |
17: 37,673,502 (GRCm39) |
F165V |
probably damaging |
Het |
Or2b7 |
T |
C |
13: 21,740,136 (GRCm39) |
N19D |
probably benign |
Het |
Or51f5 |
A |
T |
7: 102,424,310 (GRCm39) |
D193V |
probably damaging |
Het |
Or5ac25 |
A |
G |
16: 59,181,927 (GRCm39) |
I218T |
probably benign |
Het |
Ostn |
T |
C |
16: 27,140,189 (GRCm39) |
|
probably null |
Het |
Pcdhb6 |
C |
T |
18: 37,467,273 (GRCm39) |
R65* |
probably null |
Het |
Pds5b |
T |
C |
5: 150,693,406 (GRCm39) |
I706T |
probably damaging |
Het |
Pgm2 |
T |
G |
5: 64,258,302 (GRCm39) |
Y96D |
probably damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,777,926 (GRCm39) |
T875I |
possibly damaging |
Het |
Poc1b |
A |
G |
10: 99,000,764 (GRCm39) |
S355G |
probably benign |
Het |
Ppp6r1 |
A |
C |
7: 4,646,157 (GRCm39) |
D181E |
probably benign |
Het |
Pstpip2 |
G |
A |
18: 77,967,073 (GRCm39) |
V325M |
probably benign |
Het |
Rras2 |
A |
T |
7: 113,658,186 (GRCm39) |
V92D |
probably damaging |
Het |
Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
GTCTTCTTCTTCTTCTTC |
GTCTTCTTCTTCTTC |
2: 112,499,594 (GRCm39) |
|
probably benign |
Het |
Stac2 |
T |
A |
11: 97,933,379 (GRCm39) |
M188L |
probably benign |
Het |
Synrg |
G |
A |
11: 83,910,644 (GRCm39) |
D859N |
probably damaging |
Het |
Tarbp1 |
A |
T |
8: 127,171,040 (GRCm39) |
S987T |
probably damaging |
Het |
Tbx20 |
C |
A |
9: 24,685,220 (GRCm39) |
|
probably benign |
Het |
Trim30d |
G |
T |
7: 104,121,817 (GRCm39) |
N309K |
possibly damaging |
Het |
Ttc16 |
C |
T |
2: 32,665,047 (GRCm39) |
|
probably benign |
Het |
Ttc34 |
T |
A |
4: 154,945,875 (GRCm39) |
I303N |
possibly damaging |
Het |
Ubr4 |
T |
C |
4: 139,155,519 (GRCm39) |
|
probably null |
Het |
Uros |
A |
T |
7: 133,294,278 (GRCm39) |
S168T |
unknown |
Het |
Vmn2r6 |
C |
T |
3: 64,467,241 (GRCm39) |
G86D |
probably damaging |
Het |
Ybx2 |
C |
T |
11: 69,831,448 (GRCm39) |
T295I |
possibly damaging |
Het |
Zbed5 |
T |
A |
5: 129,929,321 (GRCm39) |
C146S |
possibly damaging |
Het |
Zcchc2 |
G |
A |
1: 105,958,901 (GRCm39) |
C1124Y |
probably damaging |
Het |
Zfp626 |
G |
A |
7: 27,510,175 (GRCm39) |
|
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 |
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 |
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'- CTCTCCGGTTTACTGAGTGC -3'
(R):5'- TTTCAGCTGGATCCAACAGG -3'
Sequencing Primer
(F):5'- ACTGAGTGCTGGCATCTCTAG -3'
(R):5'- TCAGCTGGATCCAACAGGATTTC -3'
|
Posted On |
2020-09-15 |