Incidental Mutation 'R8462:Cfap58'
ID |
656629 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap58
|
Ensembl Gene |
ENSMUSG00000046585 |
Gene Name |
cilia and flagella associated protein 58 |
Synonyms |
Ccdc147, LOC381229 |
MMRRC Submission |
067906-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R8462 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
47926151-48023818 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 47972089 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 673
(V673E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070533
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066308]
|
AlphaFold |
B2RW38 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066308
AA Change: V673E
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000070533 Gene: ENSMUSG00000046585 AA Change: V673E
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: 98.7%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544G11Rik |
T |
C |
6: 65,930,074 (GRCm39) |
V103A |
possibly damaging |
Het |
Abcb11 |
T |
C |
2: 69,104,499 (GRCm39) |
N729S |
probably benign |
Het |
Ap2a2 |
T |
A |
7: 141,210,394 (GRCm39) |
N883K |
probably damaging |
Het |
Atr |
T |
C |
9: 95,749,579 (GRCm39) |
I464T |
probably benign |
Het |
Atrn |
T |
A |
2: 130,777,504 (GRCm39) |
H184Q |
probably damaging |
Het |
Bmp5 |
A |
G |
9: 75,746,874 (GRCm39) |
D244G |
probably benign |
Het |
Celsr2 |
C |
A |
3: 108,320,167 (GRCm39) |
E882* |
probably null |
Het |
Chl1 |
A |
G |
6: 103,706,130 (GRCm39) |
N1155S |
probably benign |
Het |
Colgalt2 |
C |
A |
1: 152,378,823 (GRCm39) |
H416Q |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,561,404 (GRCm39) |
L230F |
probably benign |
Het |
Dixdc1 |
G |
T |
9: 50,622,079 (GRCm39) |
S84* |
probably null |
Het |
Dnah8 |
A |
G |
17: 30,875,603 (GRCm39) |
D475G |
probably damaging |
Het |
Egr2 |
T |
A |
10: 67,374,173 (GRCm39) |
N54K |
probably null |
Het |
Grm3 |
T |
C |
5: 9,562,365 (GRCm39) |
D495G |
probably benign |
Het |
Kif1b |
G |
A |
4: 149,266,797 (GRCm39) |
T1629I |
probably benign |
Het |
Klf2 |
A |
T |
8: 73,073,373 (GRCm39) |
N59I |
probably benign |
Het |
Krt86 |
T |
C |
15: 101,377,284 (GRCm39) |
V436A |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,615,680 (GRCm39) |
V838A |
probably benign |
Het |
Ltbp1 |
T |
C |
17: 75,620,069 (GRCm39) |
S786P |
probably damaging |
Het |
Matk |
C |
G |
10: 81,097,859 (GRCm39) |
R315G |
probably damaging |
Het |
Meikin |
T |
C |
11: 54,290,666 (GRCm39) |
V249A |
probably benign |
Het |
Mrnip |
A |
G |
11: 50,090,654 (GRCm39) |
R273G |
probably benign |
Het |
Naf1 |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
8: 67,313,200 (GRCm39) |
|
probably benign |
Het |
Nsd1 |
T |
A |
13: 55,446,189 (GRCm39) |
|
probably null |
Het |
Pitpnm1 |
A |
T |
19: 4,155,135 (GRCm39) |
H321L |
probably benign |
Het |
Plekhm2 |
T |
C |
4: 141,367,130 (GRCm39) |
Y170C |
probably damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,723,303 (GRCm39) |
D2197G |
possibly damaging |
Het |
Rmdn2 |
C |
T |
17: 79,978,053 (GRCm39) |
T338M |
probably damaging |
Het |
Rps10 |
A |
G |
17: 27,853,208 (GRCm39) |
S54P |
probably damaging |
Het |
S100a11 |
T |
C |
3: 93,433,422 (GRCm39) |
S89P |
probably benign |
Het |
Sh3yl1 |
T |
C |
12: 30,992,072 (GRCm39) |
Y176H |
probably damaging |
Het |
Sppl2c |
G |
T |
11: 104,077,532 (GRCm39) |
A111S |
possibly damaging |
Het |
Stab2 |
T |
C |
10: 86,803,598 (GRCm39) |
E317G |
possibly damaging |
Het |
Stim1 |
A |
G |
7: 102,076,324 (GRCm39) |
E425G |
probably damaging |
Het |
Stxbp1 |
C |
T |
2: 32,707,293 (GRCm39) |
|
probably null |
Het |
Traf6 |
G |
A |
2: 101,527,801 (GRCm39) |
R517Q |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,804,387 (GRCm39) |
V295A |
probably damaging |
Het |
Vps45 |
A |
T |
3: 95,941,091 (GRCm39) |
D383E |
possibly damaging |
Het |
Zfp984 |
A |
G |
4: 147,839,796 (GRCm39) |
C352R |
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 |
R8396:Cfap58
|
UTSW |
19 |
48,017,540 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CATCCTGGGGTCTCAACTTG -3'
(R):5'- CATTTTAGTGACCCAGCATGAGC -3'
Sequencing Primer
(F):5'- GTCTCAACTTGTCCGGCGAAAC -3'
(R):5'- TGACCCAGCATGAGCACAGG -3'
|
Posted On |
2021-01-18 |