Incidental Mutation 'R8321:Cfap58'
| ID |
641988 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap58
|
| Ensembl Gene |
ENSMUSG00000046585 |
| Gene Name |
cilia and flagella associated protein 58 |
| Synonyms |
Ccdc147, LOC381229 |
| MMRRC Submission |
067723-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R8321 (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 47946586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 373
(E373G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066308]
|
| AlphaFold |
B2RW38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066308
AA Change: E373G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000070533
Gene: ENSMUSG00000046585
AA Change: E373G
| 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: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap44 |
A |
G |
11: 64,899,053 (GRCm39) |
V708A |
probably benign |
Het |
| Atg9a |
G |
A |
1: 75,162,342 (GRCm39) |
Q523* |
probably null |
Het |
| Bank1 |
T |
A |
3: 135,940,395 (GRCm39) |
E329V |
possibly damaging |
Het |
| Ccdc162 |
C |
A |
10: 41,510,029 (GRCm39) |
A859S |
probably damaging |
Het |
| Cdh11 |
T |
C |
8: 103,361,416 (GRCm39) |
R641G |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,470,024 (GRCm39) |
T529A |
probably benign |
Het |
| Chtf18 |
G |
A |
17: 25,939,865 (GRCm39) |
T747I |
probably benign |
Het |
| Cyp2j6 |
A |
G |
4: 96,441,684 (GRCm39) |
L2P |
probably benign |
Het |
| Cyp4f18 |
G |
A |
8: 72,742,427 (GRCm39) |
P518S |
possibly damaging |
Het |
| Dmrtc1a |
G |
A |
X: 101,952,221 (GRCm39) |
R8W |
probably benign |
Het |
| Dpyd |
T |
C |
3: 118,575,573 (GRCm39) |
V137A |
possibly damaging |
Het |
| Epha6 |
A |
G |
16: 59,736,317 (GRCm39) |
V739A |
probably damaging |
Het |
| Ern2 |
C |
T |
7: 121,772,431 (GRCm39) |
A676T |
probably damaging |
Het |
| Fam20c |
A |
T |
5: 138,743,686 (GRCm39) |
I241F |
possibly damaging |
Het |
| Fastkd2 |
A |
G |
1: 63,787,138 (GRCm39) |
H524R |
probably benign |
Het |
| Foxq1 |
T |
C |
13: 31,743,251 (GRCm39) |
Y118H |
probably damaging |
Het |
| Gfm1 |
C |
T |
3: 67,337,594 (GRCm39) |
A8V |
probably benign |
Het |
| Gfm2 |
C |
T |
13: 97,299,500 (GRCm39) |
T407M |
possibly damaging |
Het |
| Gldc |
G |
A |
19: 30,120,807 (GRCm39) |
Q375* |
probably null |
Het |
| Gm5114 |
A |
G |
7: 39,060,273 (GRCm39) |
I192T |
possibly damaging |
Het |
| Gnb1 |
A |
T |
4: 155,639,482 (GRCm39) |
N237I |
possibly damaging |
Het |
| Herc2 |
C |
T |
7: 55,879,096 (GRCm39) |
P4662S |
possibly damaging |
Het |
| Herc3 |
C |
T |
6: 58,820,754 (GRCm39) |
S46F |
possibly damaging |
Het |
| Hgsnat |
C |
T |
8: 26,461,179 (GRCm39) |
G153E |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igkv2-137 |
GA |
GAA |
6: 67,533,154 (GRCm39) |
|
probably null |
Het |
| Invs |
T |
A |
4: 48,283,267 (GRCm39) |
D6E |
probably benign |
Het |
| Jakmip3 |
T |
C |
7: 138,628,613 (GRCm39) |
V463A |
probably benign |
Het |
| Jarid2 |
T |
A |
13: 45,001,862 (GRCm39) |
S96R |
probably damaging |
Het |
| Krtap6-1 |
A |
C |
16: 88,828,624 (GRCm39) |
N7H |
unknown |
Het |
| Matn4 |
A |
T |
2: 164,235,207 (GRCm39) |
V455D |
probably damaging |
Het |
| Nbea |
G |
A |
3: 56,090,518 (GRCm39) |
P47S |
possibly damaging |
Het |
| Oit3 |
T |
C |
10: 59,263,982 (GRCm39) |
H384R |
probably benign |
Het |
| Or1e27-ps1 |
G |
A |
11: 73,556,362 (GRCm39) |
R309H |
unknown |
Het |
| Or8b42 |
A |
T |
9: 38,341,850 (GRCm39) |
I91F |
probably damaging |
Het |
| Pabpc4l |
T |
A |
3: 46,400,729 (GRCm39) |
D305V |
probably damaging |
Het |
| Papln |
G |
A |
12: 83,821,715 (GRCm39) |
W314* |
probably null |
Het |
| Pask |
G |
A |
1: 93,248,377 (GRCm39) |
R975C |
possibly damaging |
Het |
| Pate13 |
G |
T |
9: 35,820,749 (GRCm39) |
C111F |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,640,380 (GRCm39) |
N542S |
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Sez6l2 |
C |
A |
7: 126,557,588 (GRCm39) |
T334N |
probably damaging |
Het |
| Sh3d19 |
A |
G |
3: 86,001,071 (GRCm39) |
T256A |
probably damaging |
Het |
| Slit2 |
A |
T |
5: 48,387,609 (GRCm39) |
N545Y |
probably damaging |
Het |
| Sprtn |
A |
T |
8: 125,629,994 (GRCm39) |
D429V |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,140,068 (GRCm39) |
V1389A |
probably damaging |
Het |
| Tecta |
C |
A |
9: 42,284,349 (GRCm39) |
C912F |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 74,024,939 (GRCm39) |
|
probably null |
Het |
| Tprg1l |
A |
G |
4: 154,244,860 (GRCm39) |
V76A |
probably benign |
Het |
| Trav12-2 |
G |
T |
14: 53,853,840 (GRCm39) |
|
probably benign |
Het |
| Trio |
T |
C |
15: 27,881,412 (GRCm39) |
D612G |
possibly damaging |
Het |
| Usp6nl |
A |
T |
2: 6,395,900 (GRCm39) |
Q36H |
possibly damaging |
Het |
| Vps9d1 |
A |
T |
8: 123,975,544 (GRCm39) |
M167K |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,466,187 (GRCm39) |
L2140Q |
probably damaging |
Het |
| Zfp512b |
A |
G |
2: 181,228,931 (GRCm39) |
V678A |
possibly damaging |
Het |
| Zfp800 |
A |
G |
6: 28,242,992 (GRCm39) |
S658P |
probably damaging |
Het |
| Zscan22 |
A |
G |
7: 12,637,625 (GRCm39) |
S6G |
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 |
|
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 |
|
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'- TGGGACCGGAAGATTCTCATC -3'
(R):5'- GCGGCGTGATTTATTCTAATCC -3'
Sequencing Primer
(F):5'- TCATCCTTGAGCTAGAGTGACAC -3'
(R):5'- GGCGTGATTTATTCTAATCCCTTGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation