Incidental Mutation 'R7033:Cfap57'
ID |
546439 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap57
|
Ensembl Gene |
ENSMUSG00000028730 |
Gene Name |
cilia and flagella associated protein 57 |
Synonyms |
LOC384050, Wdr65, 1110020C03Rik, C130004B06Rik |
MMRRC Submission |
045134-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7033 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
118411748-118477974 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 118470323 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 186
(T186P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071972]
[ENSMUST00000081921]
|
AlphaFold |
Q9D180 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071972
AA Change: T186P
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000071863 Gene: ENSMUSG00000028730 AA Change: T186P
Domain | Start | End | E-Value | Type |
Blast:WD40
|
44 |
88 |
3e-12 |
BLAST |
Blast:WD40
|
95 |
137 |
1e-9 |
BLAST |
WD40
|
140 |
181 |
1.77e2 |
SMART |
internal_repeat_1
|
182 |
237 |
7.23e-5 |
PROSPERO |
WD40
|
329 |
365 |
1.27e2 |
SMART |
WD40
|
376 |
416 |
3.4e-2 |
SMART |
WD40
|
418 |
456 |
1.59e1 |
SMART |
Blast:WD40
|
461 |
497 |
4e-18 |
BLAST |
WD40
|
500 |
539 |
9.67e-7 |
SMART |
WD40
|
544 |
581 |
3.96e1 |
SMART |
Blast:WD40
|
582 |
621 |
8e-16 |
BLAST |
WD40
|
626 |
665 |
3.21e-1 |
SMART |
coiled coil region
|
690 |
1056 |
N/A |
INTRINSIC |
coiled coil region
|
1094 |
1166 |
N/A |
INTRINSIC |
coiled coil region
|
1197 |
1222 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081921
AA Change: T186P
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000080592 Gene: ENSMUSG00000028730 AA Change: T186P
Domain | Start | End | E-Value | Type |
Blast:WD40
|
44 |
88 |
3e-12 |
BLAST |
Blast:WD40
|
95 |
137 |
1e-9 |
BLAST |
WD40
|
140 |
181 |
1.77e2 |
SMART |
internal_repeat_1
|
182 |
237 |
7.23e-5 |
PROSPERO |
WD40
|
329 |
365 |
1.27e2 |
SMART |
WD40
|
376 |
416 |
3.4e-2 |
SMART |
WD40
|
418 |
456 |
1.59e1 |
SMART |
Blast:WD40
|
461 |
497 |
4e-18 |
BLAST |
WD40
|
500 |
539 |
9.67e-7 |
SMART |
WD40
|
544 |
581 |
3.96e1 |
SMART |
Blast:WD40
|
582 |
621 |
8e-16 |
BLAST |
WD40
|
626 |
665 |
3.21e-1 |
SMART |
coiled coil region
|
690 |
1056 |
N/A |
INTRINSIC |
coiled coil region
|
1094 |
1166 |
N/A |
INTRINSIC |
coiled coil region
|
1197 |
1222 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
96% (70/73) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700024B05Rik |
A |
G |
14: 41,819,374 (GRCm39) |
Y105C |
probably damaging |
Het |
Acr |
T |
C |
15: 89,453,703 (GRCm39) |
S81P |
probably benign |
Het |
Akr1c14 |
T |
C |
13: 4,129,178 (GRCm39) |
|
probably null |
Het |
Ank2 |
C |
A |
3: 126,738,499 (GRCm39) |
E2375* |
probably null |
Het |
Avpi1 |
A |
G |
19: 42,113,416 (GRCm39) |
W14R |
probably damaging |
Het |
Brd4 |
A |
G |
17: 32,417,989 (GRCm39) |
V55A |
probably benign |
Het |
Casp8ap2 |
A |
G |
4: 32,639,392 (GRCm39) |
N149D |
probably damaging |
Het |
Ccl25 |
A |
T |
8: 4,399,641 (GRCm39) |
|
probably benign |
Het |
Celf5 |
A |
G |
10: 81,298,548 (GRCm39) |
L299P |
probably damaging |
Het |
Cfap418 |
A |
G |
4: 10,898,014 (GRCm39) |
T199A |
probably benign |
Het |
Chrm4 |
A |
G |
2: 91,758,692 (GRCm39) |
M367V |
probably benign |
Het |
Col1a2 |
A |
T |
6: 4,516,904 (GRCm39) |
|
probably benign |
Het |
Crybg3 |
G |
A |
16: 59,374,528 (GRCm39) |
P2242L |
probably damaging |
Het |
Cspg4 |
T |
C |
9: 56,795,358 (GRCm39) |
V1031A |
probably damaging |
Het |
Dbnl |
C |
A |
11: 5,748,102 (GRCm39) |
P313T |
probably benign |
Het |
Dnah1 |
A |
G |
14: 30,986,882 (GRCm39) |
F3637L |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,518,820 (GRCm39) |
I2979N |
probably damaging |
Het |
Dusp10 |
T |
C |
1: 183,769,802 (GRCm39) |
V256A |
possibly damaging |
Het |
Dync2i1 |
T |
C |
12: 116,175,511 (GRCm39) |
M889V |
probably benign |
Het |
Erlin2 |
T |
C |
8: 27,521,792 (GRCm39) |
V164A |
probably benign |
Het |
Fam110a |
T |
C |
2: 151,812,131 (GRCm39) |
D213G |
probably damaging |
Het |
Fkbp1a |
T |
C |
2: 151,399,420 (GRCm39) |
|
probably null |
Het |
Foxg1 |
G |
A |
12: 49,431,503 (GRCm39) |
|
probably benign |
Het |
Gm12185 |
T |
C |
11: 48,806,826 (GRCm39) |
S122G |
probably benign |
Het |
Gm2042 |
A |
T |
12: 87,927,051 (GRCm39) |
D456V |
probably damaging |
Het |
Grin2b |
A |
G |
6: 135,900,036 (GRCm39) |
Y282H |
probably damaging |
Het |
Gys2 |
T |
C |
6: 142,418,448 (GRCm39) |
D27G |
probably benign |
Het |
H2-DMa |
T |
A |
17: 34,355,971 (GRCm39) |
|
probably null |
Het |
Hectd4 |
T |
A |
5: 121,502,631 (GRCm39) |
I4245N |
possibly damaging |
Het |
Incenp |
A |
G |
19: 9,870,736 (GRCm39) |
Y298H |
unknown |
Het |
Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
Kifc1 |
A |
T |
17: 34,102,671 (GRCm39) |
V314E |
probably damaging |
Het |
Lurap1l |
C |
T |
4: 80,829,604 (GRCm39) |
P5S |
probably benign |
Het |
Mtmr11 |
A |
G |
3: 96,077,262 (GRCm39) |
Y540C |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,576,698 (GRCm39) |
|
probably benign |
Het |
Myh13 |
A |
G |
11: 67,260,142 (GRCm39) |
E1860G |
possibly damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Nbeal1 |
G |
A |
1: 60,350,106 (GRCm39) |
G2385D |
probably damaging |
Het |
Ncaph2 |
G |
A |
15: 89,255,559 (GRCm39) |
A578T |
probably benign |
Het |
Ncr1 |
T |
C |
7: 4,341,144 (GRCm39) |
V8A |
possibly damaging |
Het |
Nutm1 |
T |
C |
2: 112,086,513 (GRCm39) |
T73A |
probably damaging |
Het |
Olfm1 |
G |
A |
2: 28,119,348 (GRCm39) |
D313N |
probably damaging |
Het |
Or11h4 |
A |
G |
14: 50,974,164 (GRCm39) |
F152L |
possibly damaging |
Het |
Or13f5 |
A |
G |
4: 52,826,089 (GRCm39) |
M231V |
probably benign |
Het |
Or4a66 |
T |
A |
2: 88,531,164 (GRCm39) |
N170Y |
probably damaging |
Het |
Otog |
T |
A |
7: 45,916,822 (GRCm39) |
|
probably null |
Het |
Peak1 |
G |
T |
9: 56,166,991 (GRCm39) |
D312E |
probably damaging |
Het |
Plekhg1 |
T |
C |
10: 3,890,251 (GRCm39) |
I331T |
probably damaging |
Het |
Polr1b |
T |
C |
2: 128,957,562 (GRCm39) |
V539A |
possibly damaging |
Het |
Polr2a |
A |
T |
11: 69,638,039 (GRCm39) |
H143Q |
possibly damaging |
Het |
Ppargc1b |
G |
T |
18: 61,440,785 (GRCm39) |
A711D |
probably damaging |
Het |
Prnd |
T |
A |
2: 131,795,362 (GRCm39) |
C161S |
possibly damaging |
Het |
Prrt4 |
A |
G |
6: 29,171,147 (GRCm39) |
L435P |
possibly damaging |
Het |
Psen2 |
C |
T |
1: 180,055,085 (GRCm39) |
|
probably null |
Het |
Psg23 |
T |
C |
7: 18,348,669 (GRCm39) |
E46G |
possibly damaging |
Het |
Rasgef1b |
C |
T |
5: 99,380,195 (GRCm39) |
R350H |
probably damaging |
Het |
Rfxank |
G |
C |
8: 70,590,820 (GRCm39) |
P16A |
probably benign |
Het |
Sema6a |
A |
G |
18: 47,381,637 (GRCm39) |
I944T |
probably damaging |
Het |
Serpinc1 |
A |
G |
1: 160,825,091 (GRCm39) |
T313A |
probably benign |
Het |
Slc27a4 |
T |
C |
2: 29,694,283 (GRCm39) |
S36P |
possibly damaging |
Het |
Slc36a1 |
C |
A |
11: 55,114,563 (GRCm39) |
R214S |
probably benign |
Het |
Sorl1 |
C |
T |
9: 41,942,279 (GRCm39) |
S982N |
possibly damaging |
Het |
Speer1k |
G |
T |
5: 11,000,518 (GRCm39) |
|
probably null |
Het |
Syt1 |
A |
C |
10: 108,526,797 (GRCm39) |
D37E |
probably benign |
Het |
Tcl1b5 |
A |
T |
12: 105,142,750 (GRCm39) |
D26V |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,544,430 (GRCm39) |
K2149* |
probably null |
Het |
Ubc |
T |
A |
5: 125,465,238 (GRCm39) |
I30F |
probably damaging |
Het |
Ugt1a7c |
A |
T |
1: 88,023,250 (GRCm39) |
E136D |
possibly damaging |
Het |
Utp20 |
A |
G |
10: 88,590,337 (GRCm39) |
|
probably null |
Het |
Vmn1r159 |
C |
T |
7: 22,542,289 (GRCm39) |
V248I |
probably damaging |
Het |
Vmn2r105 |
T |
C |
17: 20,428,874 (GRCm39) |
H734R |
probably damaging |
Het |
Xrcc2 |
T |
G |
5: 25,897,707 (GRCm39) |
I81L |
possibly damaging |
Het |
Zfat |
A |
C |
15: 68,052,864 (GRCm39) |
I310S |
probably damaging |
Het |
Zfp119a |
A |
G |
17: 56,173,009 (GRCm39) |
V278A |
probably benign |
Het |
Zfp53 |
A |
G |
17: 21,720,508 (GRCm39) |
K33E |
probably benign |
Het |
Zfp866 |
G |
T |
8: 70,218,491 (GRCm39) |
H376Q |
probably damaging |
Het |
|
Other mutations in Cfap57 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00502:Cfap57
|
APN |
4 |
118,438,198 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00508:Cfap57
|
APN |
4 |
118,438,367 (GRCm39) |
splice site |
probably null |
|
IGL00857:Cfap57
|
APN |
4 |
118,470,120 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01147:Cfap57
|
APN |
4 |
118,446,198 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01396:Cfap57
|
APN |
4 |
118,467,792 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01420:Cfap57
|
APN |
4 |
118,470,137 (GRCm39) |
missense |
probably benign |
0.21 |
IGL01615:Cfap57
|
APN |
4 |
118,457,993 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02154:Cfap57
|
APN |
4 |
118,470,214 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02161:Cfap57
|
APN |
4 |
118,436,569 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02481:Cfap57
|
APN |
4 |
118,438,302 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02483:Cfap57
|
APN |
4 |
118,438,302 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02503:Cfap57
|
APN |
4 |
118,426,545 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02800:Cfap57
|
APN |
4 |
118,471,947 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03083:Cfap57
|
APN |
4 |
118,441,936 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03146:Cfap57
|
APN |
4 |
118,456,216 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03246:Cfap57
|
APN |
4 |
118,433,842 (GRCm39) |
missense |
probably benign |
0.29 |
IGL03376:Cfap57
|
APN |
4 |
118,441,917 (GRCm39) |
missense |
probably damaging |
0.96 |
G1Funyon:Cfap57
|
UTSW |
4 |
118,450,271 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0144:Cfap57
|
UTSW |
4 |
118,441,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R0184:Cfap57
|
UTSW |
4 |
118,456,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R0415:Cfap57
|
UTSW |
4 |
118,426,628 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0515:Cfap57
|
UTSW |
4 |
118,477,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R0690:Cfap57
|
UTSW |
4 |
118,426,924 (GRCm39) |
splice site |
probably benign |
|
R0730:Cfap57
|
UTSW |
4 |
118,470,117 (GRCm39) |
splice site |
probably null |
|
R0737:Cfap57
|
UTSW |
4 |
118,438,299 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0854:Cfap57
|
UTSW |
4 |
118,419,069 (GRCm39) |
missense |
probably benign |
0.04 |
R0880:Cfap57
|
UTSW |
4 |
118,439,035 (GRCm39) |
nonsense |
probably null |
|
R1085:Cfap57
|
UTSW |
4 |
118,452,976 (GRCm39) |
missense |
probably benign |
0.20 |
R1119:Cfap57
|
UTSW |
4 |
118,463,873 (GRCm39) |
nonsense |
probably null |
|
R1217:Cfap57
|
UTSW |
4 |
118,463,849 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1294:Cfap57
|
UTSW |
4 |
118,463,731 (GRCm39) |
critical splice donor site |
probably null |
|
R1487:Cfap57
|
UTSW |
4 |
118,471,978 (GRCm39) |
missense |
probably benign |
0.01 |
R1676:Cfap57
|
UTSW |
4 |
118,453,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R1688:Cfap57
|
UTSW |
4 |
118,426,843 (GRCm39) |
missense |
probably null |
0.20 |
R1709:Cfap57
|
UTSW |
4 |
118,428,901 (GRCm39) |
missense |
probably benign |
0.00 |
R1719:Cfap57
|
UTSW |
4 |
118,463,828 (GRCm39) |
missense |
probably benign |
0.04 |
R1782:Cfap57
|
UTSW |
4 |
118,472,172 (GRCm39) |
missense |
probably damaging |
0.98 |
R1791:Cfap57
|
UTSW |
4 |
118,428,921 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1850:Cfap57
|
UTSW |
4 |
118,457,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R1866:Cfap57
|
UTSW |
4 |
118,457,124 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1912:Cfap57
|
UTSW |
4 |
118,472,207 (GRCm39) |
missense |
probably damaging |
0.96 |
R1978:Cfap57
|
UTSW |
4 |
118,450,329 (GRCm39) |
missense |
probably benign |
0.03 |
R2177:Cfap57
|
UTSW |
4 |
118,463,885 (GRCm39) |
missense |
probably benign |
0.00 |
R2322:Cfap57
|
UTSW |
4 |
118,467,922 (GRCm39) |
missense |
probably benign |
|
R3905:Cfap57
|
UTSW |
4 |
118,453,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R4013:Cfap57
|
UTSW |
4 |
118,450,340 (GRCm39) |
missense |
probably benign |
0.01 |
R4079:Cfap57
|
UTSW |
4 |
118,456,194 (GRCm39) |
missense |
probably benign |
0.34 |
R4962:Cfap57
|
UTSW |
4 |
118,470,262 (GRCm39) |
missense |
probably benign |
0.21 |
R4970:Cfap57
|
UTSW |
4 |
118,477,568 (GRCm39) |
missense |
probably damaging |
0.99 |
R4974:Cfap57
|
UTSW |
4 |
118,450,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R4999:Cfap57
|
UTSW |
4 |
118,453,045 (GRCm39) |
missense |
probably benign |
0.01 |
R5482:Cfap57
|
UTSW |
4 |
118,426,838 (GRCm39) |
missense |
probably benign |
|
R5522:Cfap57
|
UTSW |
4 |
118,453,085 (GRCm39) |
missense |
probably benign |
0.41 |
R5626:Cfap57
|
UTSW |
4 |
118,471,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R5685:Cfap57
|
UTSW |
4 |
118,426,656 (GRCm39) |
missense |
probably benign |
|
R5712:Cfap57
|
UTSW |
4 |
118,471,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R5961:Cfap57
|
UTSW |
4 |
118,428,942 (GRCm39) |
missense |
probably benign |
0.00 |
R6244:Cfap57
|
UTSW |
4 |
118,436,607 (GRCm39) |
missense |
probably damaging |
0.99 |
R6268:Cfap57
|
UTSW |
4 |
118,426,648 (GRCm39) |
nonsense |
probably null |
|
R6271:Cfap57
|
UTSW |
4 |
118,452,956 (GRCm39) |
missense |
probably benign |
0.13 |
R6330:Cfap57
|
UTSW |
4 |
118,426,593 (GRCm39) |
missense |
probably benign |
|
R6439:Cfap57
|
UTSW |
4 |
118,446,172 (GRCm39) |
critical splice donor site |
probably null |
|
R6639:Cfap57
|
UTSW |
4 |
118,411,909 (GRCm39) |
missense |
probably benign |
0.13 |
R6722:Cfap57
|
UTSW |
4 |
118,441,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R7143:Cfap57
|
UTSW |
4 |
118,477,906 (GRCm39) |
unclassified |
probably benign |
|
R7162:Cfap57
|
UTSW |
4 |
118,472,128 (GRCm39) |
missense |
probably benign |
|
R7174:Cfap57
|
UTSW |
4 |
118,446,264 (GRCm39) |
missense |
probably benign |
0.35 |
R7210:Cfap57
|
UTSW |
4 |
118,433,900 (GRCm39) |
nonsense |
probably null |
|
R7242:Cfap57
|
UTSW |
4 |
118,450,293 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7244:Cfap57
|
UTSW |
4 |
118,411,997 (GRCm39) |
nonsense |
probably null |
|
R7359:Cfap57
|
UTSW |
4 |
118,456,162 (GRCm39) |
missense |
probably benign |
0.01 |
R7373:Cfap57
|
UTSW |
4 |
118,472,128 (GRCm39) |
missense |
probably benign |
|
R7394:Cfap57
|
UTSW |
4 |
118,450,334 (GRCm39) |
missense |
probably benign |
0.00 |
R7401:Cfap57
|
UTSW |
4 |
118,472,128 (GRCm39) |
missense |
probably benign |
|
R7412:Cfap57
|
UTSW |
4 |
118,472,128 (GRCm39) |
missense |
probably benign |
|
R7414:Cfap57
|
UTSW |
4 |
118,472,128 (GRCm39) |
missense |
probably benign |
|
R7452:Cfap57
|
UTSW |
4 |
118,452,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R7457:Cfap57
|
UTSW |
4 |
118,446,198 (GRCm39) |
missense |
probably damaging |
0.97 |
R7559:Cfap57
|
UTSW |
4 |
118,472,128 (GRCm39) |
missense |
probably benign |
|
R7642:Cfap57
|
UTSW |
4 |
118,472,128 (GRCm39) |
missense |
probably benign |
|
R7741:Cfap57
|
UTSW |
4 |
118,472,128 (GRCm39) |
missense |
probably benign |
|
R7744:Cfap57
|
UTSW |
4 |
118,472,128 (GRCm39) |
missense |
probably benign |
|
R7745:Cfap57
|
UTSW |
4 |
118,472,128 (GRCm39) |
missense |
probably benign |
|
R7842:Cfap57
|
UTSW |
4 |
118,411,952 (GRCm39) |
nonsense |
probably null |
|
R7936:Cfap57
|
UTSW |
4 |
118,472,128 (GRCm39) |
missense |
probably benign |
|
R7940:Cfap57
|
UTSW |
4 |
118,472,128 (GRCm39) |
missense |
probably benign |
|
R7942:Cfap57
|
UTSW |
4 |
118,472,128 (GRCm39) |
missense |
probably benign |
|
R8074:Cfap57
|
UTSW |
4 |
118,426,822 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8301:Cfap57
|
UTSW |
4 |
118,450,271 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8411:Cfap57
|
UTSW |
4 |
118,472,128 (GRCm39) |
missense |
probably benign |
|
R8447:Cfap57
|
UTSW |
4 |
118,472,128 (GRCm39) |
missense |
probably benign |
|
R8491:Cfap57
|
UTSW |
4 |
118,472,128 (GRCm39) |
missense |
probably benign |
|
R8524:Cfap57
|
UTSW |
4 |
118,472,128 (GRCm39) |
missense |
probably benign |
|
R8670:Cfap57
|
UTSW |
4 |
118,472,122 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8707:Cfap57
|
UTSW |
4 |
118,450,203 (GRCm39) |
missense |
probably benign |
0.04 |
R8790:Cfap57
|
UTSW |
4 |
118,439,111 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8941:Cfap57
|
UTSW |
4 |
118,426,799 (GRCm39) |
missense |
probably damaging |
0.99 |
R9139:Cfap57
|
UTSW |
4 |
118,412,048 (GRCm39) |
missense |
probably benign |
0.02 |
R9212:Cfap57
|
UTSW |
4 |
118,436,649 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9442:Cfap57
|
UTSW |
4 |
118,463,731 (GRCm39) |
critical splice donor site |
probably null |
|
R9525:Cfap57
|
UTSW |
4 |
118,433,778 (GRCm39) |
missense |
probably damaging |
1.00 |
X0022:Cfap57
|
UTSW |
4 |
118,471,942 (GRCm39) |
missense |
probably benign |
|
Z1088:Cfap57
|
UTSW |
4 |
118,439,079 (GRCm39) |
missense |
probably benign |
0.22 |
Z1177:Cfap57
|
UTSW |
4 |
118,456,153 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGCTAGTAGACTCCTTGACC -3'
(R):5'- TTGACTGATAGTACATCCTGTAGAC -3'
Sequencing Primer
(F):5'- GCTAGTAGACTCCTTGACCATTATG -3'
(R):5'- AAATTCCATCATTTTGTGATATGCAC -3'
|
Posted On |
2019-05-13 |