Incidental Mutation 'R2307:Cfap58'
| ID |
244663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap58
|
| Ensembl Gene |
ENSMUSG00000046585 |
| Gene Name |
cilia and flagella associated protein 58 |
| Synonyms |
Ccdc147, LOC381229 |
| MMRRC Submission |
040306-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R2307 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
47926151-48023818 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 47950925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 429
(Q429*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066308]
|
| AlphaFold |
B2RW38 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000066308
AA Change: Q429*
|
| SMART Domains |
Protein: ENSMUSP00000070533
Gene: ENSMUSG00000046585
AA Change: Q429*
| 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: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
T |
C |
12: 84,122,375 (GRCm39) |
F320L |
possibly damaging |
Het |
| Alox12e |
T |
C |
11: 70,212,087 (GRCm39) |
K170R |
probably damaging |
Het |
| Ano2 |
T |
C |
6: 125,969,849 (GRCm39) |
S722P |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,946,970 (GRCm39) |
Y215C |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,695,044 (GRCm39) |
N555S |
probably benign |
Het |
| Clcnkb |
A |
G |
4: 141,139,640 (GRCm39) |
S121P |
probably damaging |
Het |
| Cltb |
T |
A |
13: 54,746,564 (GRCm39) |
E67D |
probably damaging |
Het |
| Ddhd1 |
A |
T |
14: 45,846,447 (GRCm39) |
L581Q |
probably damaging |
Het |
| Dnajc3 |
T |
C |
14: 119,190,633 (GRCm39) |
|
probably null |
Het |
| Fgf14 |
T |
A |
14: 124,221,234 (GRCm39) |
N190I |
probably damaging |
Het |
| Galnt17 |
T |
G |
5: 130,929,460 (GRCm39) |
Y449S |
probably damaging |
Het |
| Grin3a |
C |
T |
4: 49,793,033 (GRCm39) |
|
probably null |
Het |
| Gxylt2 |
A |
G |
6: 100,764,173 (GRCm39) |
N286S |
probably damaging |
Het |
| H2-K2 |
A |
G |
17: 34,216,113 (GRCm39) |
V120A |
probably benign |
Het |
| Inpp5f |
T |
C |
7: 128,296,034 (GRCm39) |
V168A |
probably damaging |
Het |
| Kif1a |
G |
T |
1: 93,006,491 (GRCm39) |
H59N |
probably damaging |
Het |
| Krt24 |
T |
C |
11: 99,175,456 (GRCm39) |
Q193R |
possibly damaging |
Het |
| Krtap5-4 |
C |
A |
7: 141,857,351 (GRCm39) |
S7* |
probably null |
Het |
| Ltn1 |
A |
G |
16: 87,229,312 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mep1b |
A |
T |
18: 21,221,632 (GRCm39) |
D194V |
probably damaging |
Het |
| Mettl25b |
A |
T |
3: 87,834,162 (GRCm39) |
M171K |
possibly damaging |
Het |
| Orc3 |
C |
T |
4: 34,586,503 (GRCm39) |
V382M |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,728,665 (GRCm39) |
|
probably benign |
Het |
| Pcolce |
T |
C |
5: 137,607,356 (GRCm39) |
H45R |
probably damaging |
Het |
| Prf1 |
T |
C |
10: 61,138,942 (GRCm39) |
V300A |
possibly damaging |
Het |
| Prorp |
T |
C |
12: 55,351,101 (GRCm39) |
F137L |
probably damaging |
Het |
| Prss53 |
T |
C |
7: 127,490,037 (GRCm39) |
I18V |
probably benign |
Het |
| Rnase2b |
A |
G |
14: 51,400,188 (GRCm39) |
T90A |
probably benign |
Het |
| Rpap1 |
G |
A |
2: 119,614,247 (GRCm39) |
P50L |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec16b |
G |
A |
1: 157,363,062 (GRCm39) |
V298I |
probably damaging |
Het |
| Smarcd3 |
C |
T |
5: 24,800,746 (GRCm39) |
R156Q |
probably damaging |
Het |
| St6galnac2 |
C |
T |
11: 116,572,731 (GRCm39) |
A242T |
probably damaging |
Het |
| Syce1l |
T |
C |
8: 114,369,937 (GRCm39) |
|
probably null |
Het |
| Tcam1 |
T |
C |
11: 106,174,940 (GRCm39) |
C132R |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,982,605 (GRCm39) |
I84V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,717,342 (GRCm39) |
R455* |
probably null |
Het |
| Ubl5 |
T |
A |
9: 20,557,876 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
T |
A |
17: 47,277,141 (GRCm39) |
K779* |
probably null |
Het |
| Ugt1a10 |
A |
G |
1: 87,983,669 (GRCm39) |
I156V |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,239,854 (GRCm39) |
T3513A |
probably damaging |
Het |
| Vmn1r20 |
C |
T |
6: 57,409,121 (GRCm39) |
T149I |
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,087,201 (GRCm39) |
D343E |
probably benign |
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 |
|
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'- CAGGTTCTCGAACACGTGAG -3'
(R):5'- CTGGAGCAAGACCCAAATCTG -3'
Sequencing Primer
(F):5'- AGTAAGGCGCCCGCTTTG -3'
(R):5'- CCGTAGGCGAACACTGGAAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation