Incidental Mutation 'R1629:Cfap58'
| ID |
172706 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap58
|
| Ensembl Gene |
ENSMUSG00000046585 |
| Gene Name |
cilia and flagella associated protein 58 |
| Synonyms |
Ccdc147, LOC381229 |
| MMRRC Submission |
039666-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R1629 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
47926151-48023818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47929778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 80
(T80A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066308]
|
| AlphaFold |
B2RW38 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066308
AA Change: T80A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000070533
Gene: ENSMUSG00000046585
AA Change: T80A
| 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: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
C |
18: 59,087,691 (GRCm39) |
I574L |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| BC005624 |
T |
C |
2: 30,864,020 (GRCm39) |
E191G |
probably damaging |
Het |
| Cbx2 |
A |
G |
11: 118,919,806 (GRCm39) |
D457G |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,395,164 (GRCm39) |
K352E |
probably benign |
Het |
| Cdk14 |
A |
T |
5: 5,153,807 (GRCm39) |
H183Q |
probably benign |
Het |
| Cftr |
C |
T |
6: 18,226,105 (GRCm39) |
T351I |
probably damaging |
Het |
| Col27a1 |
A |
G |
4: 63,248,100 (GRCm39) |
|
probably benign |
Het |
| Cp |
T |
A |
3: 20,020,614 (GRCm39) |
|
probably null |
Het |
| Cpne8 |
A |
T |
15: 90,456,175 (GRCm39) |
V196E |
probably benign |
Het |
| Dmxl1 |
T |
G |
18: 49,992,353 (GRCm39) |
|
probably null |
Het |
| Dnm2 |
T |
A |
9: 21,415,754 (GRCm39) |
L642Q |
probably damaging |
Het |
| Dock2 |
G |
T |
11: 34,212,480 (GRCm39) |
|
probably null |
Het |
| Dock9 |
A |
G |
14: 121,780,986 (GRCm39) |
F2091L |
possibly damaging |
Het |
| Eaf2 |
A |
G |
16: 36,645,063 (GRCm39) |
V53A |
probably damaging |
Het |
| Fbl |
G |
T |
7: 27,874,212 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,159,610 (GRCm39) |
D2373G |
probably damaging |
Het |
| Gbp2b |
A |
G |
3: 142,316,735 (GRCm39) |
Y462C |
possibly damaging |
Het |
| Il1rl2 |
T |
A |
1: 40,396,020 (GRCm39) |
F348I |
probably benign |
Het |
| Khdc1a |
T |
A |
1: 21,421,121 (GRCm39) |
I102N |
possibly damaging |
Het |
| Klhl11 |
T |
C |
11: 100,355,012 (GRCm39) |
T270A |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,112,423 (GRCm39) |
S2288P |
probably benign |
Het |
| Lrfn4 |
T |
C |
19: 4,663,523 (GRCm39) |
E337G |
possibly damaging |
Het |
| Macf1 |
C |
A |
4: 123,402,208 (GRCm39) |
E549* |
probably null |
Het |
| Mmp3 |
G |
T |
9: 7,447,641 (GRCm39) |
V209F |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myh9 |
G |
A |
15: 77,648,601 (GRCm39) |
R1725W |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,910,312 (GRCm39) |
D1294E |
possibly damaging |
Het |
| Nrcam |
G |
A |
12: 44,610,769 (GRCm39) |
A496T |
probably benign |
Het |
| Nufip2 |
A |
G |
11: 77,583,834 (GRCm39) |
T583A |
probably benign |
Het |
| Or5m3b |
A |
G |
2: 85,871,766 (GRCm39) |
T36A |
probably damaging |
Het |
| Ppig |
C |
A |
2: 69,566,217 (GRCm39) |
T128K |
probably damaging |
Het |
| Ppp2r2a |
A |
T |
14: 67,257,208 (GRCm39) |
C341S |
possibly damaging |
Het |
| Ptpre |
A |
T |
7: 135,271,528 (GRCm39) |
D374V |
probably damaging |
Het |
| Ranbp3l |
A |
C |
15: 9,065,068 (GRCm39) |
Q485P |
probably damaging |
Het |
| Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
| Slc1a7 |
A |
G |
4: 107,865,340 (GRCm39) |
Y276C |
probably damaging |
Het |
| Smarcad1 |
A |
G |
6: 65,044,091 (GRCm39) |
D221G |
probably benign |
Het |
| Smn1 |
C |
A |
13: 100,264,404 (GRCm39) |
T45N |
probably damaging |
Het |
| Son |
T |
C |
16: 91,454,510 (GRCm39) |
S1086P |
probably damaging |
Het |
| Ssmem1 |
T |
A |
6: 30,512,491 (GRCm39) |
Y45N |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,624,121 (GRCm39) |
H1943R |
possibly damaging |
Het |
| Tmem184c |
A |
C |
8: 78,329,551 (GRCm39) |
F170V |
possibly damaging |
Het |
| Tmem184c |
A |
T |
8: 78,332,791 (GRCm39) |
|
probably null |
Het |
| Vmn1r59 |
C |
T |
7: 5,457,466 (GRCm39) |
C98Y |
probably damaging |
Het |
| Vmn2r23 |
T |
A |
6: 123,690,386 (GRCm39) |
S421T |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,287,645 (GRCm39) |
S493P |
possibly 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 |
|
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 |
|
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'- TCGCTCTTTCTCGCAGGACAAG -3'
(R):5'- TTTCAGCACAGTAAACCTCACCAGG -3'
Sequencing Primer
(F):5'- CCGGAGGAAACTGCATTTG -3'
(R):5'- AACCTCACCAGGGTTAATTACTTTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation