Incidental Mutation 'R0730:Cfap57'
ID |
67447 |
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 |
038911-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0730 (G1)
|
Quality Score |
213 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
118411748-118477974 bp(-) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
T to C
at 118470117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071972]
[ENSMUST00000081921]
|
AlphaFold |
Q9D180 |
Predicted Effect |
probably null
Transcript: ENSMUST00000071972
|
SMART Domains |
Protein: ENSMUSP00000071863 Gene: ENSMUSG00000028730
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 |
probably null
Transcript: ENSMUST00000081921
|
SMART Domains |
Protein: ENSMUSP00000080592 Gene: ENSMUSG00000028730
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.1%
|
Validation Efficiency |
99% (99/100) |
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: 99 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam9 |
A |
T |
8: 25,486,774 (GRCm39) |
I168N |
probably benign |
Het |
Adamts20 |
G |
A |
15: 94,245,571 (GRCm39) |
A577V |
probably benign |
Het |
Agtr1a |
A |
T |
13: 30,565,279 (GRCm39) |
S115C |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,618,692 (GRCm39) |
Y1720C |
probably damaging |
Het |
Ano6 |
A |
T |
15: 95,818,252 (GRCm39) |
T353S |
probably damaging |
Het |
App |
A |
G |
16: 84,876,840 (GRCm39) |
F184L |
probably damaging |
Het |
Arhgef38 |
T |
A |
3: 132,843,232 (GRCm39) |
Y446F |
probably benign |
Het |
Aspg |
T |
A |
12: 112,078,693 (GRCm39) |
Y57* |
probably null |
Het |
Atp1a4 |
G |
A |
1: 172,067,774 (GRCm39) |
|
probably benign |
Het |
Bdp1 |
G |
A |
13: 100,195,459 (GRCm39) |
|
probably benign |
Het |
Bicd2 |
T |
A |
13: 49,531,717 (GRCm39) |
S246T |
possibly damaging |
Het |
Brd10 |
T |
A |
19: 29,695,381 (GRCm39) |
I1438F |
probably benign |
Het |
Bsn |
T |
A |
9: 107,984,011 (GRCm39) |
M3348L |
unknown |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,704,322 (GRCm39) |
I820V |
probably benign |
Het |
Cdc40 |
A |
G |
10: 40,720,952 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,159,493 (GRCm39) |
E2094G |
probably damaging |
Het |
Celsr2 |
T |
A |
3: 108,305,922 (GRCm39) |
N2061Y |
probably damaging |
Het |
Cfap206 |
G |
A |
4: 34,711,391 (GRCm39) |
A502V |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,870,599 (GRCm39) |
T29A |
probably benign |
Het |
Chd5 |
A |
G |
4: 152,432,441 (GRCm39) |
E43G |
possibly damaging |
Het |
Clk1 |
G |
A |
1: 58,453,558 (GRCm39) |
H343Y |
probably benign |
Het |
Cntn4 |
A |
C |
6: 106,527,447 (GRCm39) |
K443T |
probably damaging |
Het |
Csn2 |
G |
A |
5: 87,842,811 (GRCm39) |
A72V |
possibly damaging |
Het |
Ctdp1 |
T |
A |
18: 80,493,457 (GRCm39) |
H346L |
probably benign |
Het |
Ctif |
A |
T |
18: 75,698,083 (GRCm39) |
N192K |
probably damaging |
Het |
Ddr2 |
G |
A |
1: 169,823,135 (GRCm39) |
A383V |
probably benign |
Het |
Derl3 |
C |
T |
10: 75,731,076 (GRCm39) |
|
probably benign |
Het |
Dgkh |
T |
C |
14: 78,821,919 (GRCm39) |
I865V |
probably damaging |
Het |
Dip2b |
C |
T |
15: 100,069,532 (GRCm39) |
A619V |
probably damaging |
Het |
Elapor1 |
T |
A |
3: 108,376,851 (GRCm39) |
H509L |
probably benign |
Het |
Eml1 |
A |
G |
12: 108,496,585 (GRCm39) |
T614A |
possibly damaging |
Het |
Eogt |
G |
C |
6: 97,092,970 (GRCm39) |
Y402* |
probably null |
Het |
Erbb4 |
A |
G |
1: 68,298,449 (GRCm39) |
V647A |
probably damaging |
Het |
Esm1 |
G |
T |
13: 113,350,036 (GRCm39) |
|
probably null |
Het |
Fbxo31 |
A |
G |
8: 122,282,103 (GRCm39) |
|
probably benign |
Het |
Fbxw5 |
T |
A |
2: 25,394,630 (GRCm39) |
D201E |
possibly damaging |
Het |
Fgfr1 |
G |
A |
8: 26,045,760 (GRCm39) |
D123N |
probably benign |
Het |
G530012D18Rik |
A |
C |
1: 85,504,757 (GRCm39) |
|
probably benign |
Het |
Gnat1 |
G |
A |
9: 107,556,662 (GRCm39) |
T29I |
probably damaging |
Het |
Gtf2ird2 |
A |
T |
5: 134,221,597 (GRCm39) |
R67* |
probably null |
Het |
Il22b |
A |
T |
10: 118,130,142 (GRCm39) |
D87E |
probably benign |
Het |
Kcnq3 |
T |
C |
15: 65,867,457 (GRCm39) |
T729A |
probably benign |
Het |
Klrc2 |
A |
T |
6: 129,635,659 (GRCm39) |
S156R |
probably damaging |
Het |
Krt76 |
A |
T |
15: 101,795,784 (GRCm39) |
L462Q |
probably damaging |
Het |
Lama3 |
C |
A |
18: 12,589,907 (GRCm39) |
|
probably benign |
Het |
Lin28a |
A |
T |
4: 133,735,319 (GRCm39) |
S56T |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,276,323 (GRCm39) |
|
probably benign |
Het |
Macrod2 |
C |
T |
2: 142,059,594 (GRCm39) |
|
probably benign |
Het |
Mansc1 |
C |
T |
6: 134,594,424 (GRCm39) |
|
probably benign |
Het |
Map1b |
G |
T |
13: 99,566,274 (GRCm39) |
S2149* |
probably null |
Het |
Mgst1 |
A |
T |
6: 138,124,667 (GRCm39) |
T34S |
probably benign |
Het |
Mlf2 |
C |
T |
6: 124,911,354 (GRCm39) |
T123M |
probably damaging |
Het |
Mospd2 |
C |
T |
X: 163,731,253 (GRCm39) |
|
probably benign |
Het |
Mrpl15 |
A |
T |
1: 4,847,834 (GRCm39) |
V155E |
probably damaging |
Het |
Mstn |
A |
T |
1: 53,100,953 (GRCm39) |
Y10F |
possibly damaging |
Het |
Myo1g |
C |
T |
11: 6,470,794 (GRCm39) |
V21M |
probably damaging |
Het |
Myom2 |
T |
C |
8: 15,149,326 (GRCm39) |
I599T |
probably benign |
Het |
Ndc80 |
A |
T |
17: 71,803,241 (GRCm39) |
N633K |
probably benign |
Het |
Nhs |
C |
A |
X: 160,620,296 (GRCm39) |
V1487L |
possibly damaging |
Het |
Npc1 |
T |
C |
18: 12,352,382 (GRCm39) |
T106A |
probably benign |
Het |
Nup133 |
C |
T |
8: 124,675,747 (GRCm39) |
V57M |
probably benign |
Het |
Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
Oprm1 |
T |
C |
10: 6,782,652 (GRCm39) |
|
probably benign |
Het |
Or5j1 |
T |
C |
2: 86,879,492 (GRCm39) |
I29M |
probably benign |
Het |
Or6c219 |
T |
A |
10: 129,780,980 (GRCm39) |
H317L |
probably benign |
Het |
Or8j3 |
A |
G |
2: 86,029,069 (GRCm39) |
V9A |
probably benign |
Het |
Ostf1 |
C |
T |
19: 18,581,571 (GRCm39) |
V14I |
unknown |
Het |
Pcdhb14 |
C |
A |
18: 37,581,921 (GRCm39) |
D342E |
probably damaging |
Het |
Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
Pdpr |
T |
C |
8: 111,852,387 (GRCm39) |
|
probably null |
Het |
Plce1 |
G |
A |
19: 38,705,135 (GRCm39) |
V847M |
probably damaging |
Het |
Pon3 |
A |
G |
6: 5,230,444 (GRCm39) |
M288T |
probably benign |
Het |
Psd2 |
A |
T |
18: 36,111,627 (GRCm39) |
D84V |
possibly damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,712,448 (GRCm39) |
K1808E |
probably damaging |
Het |
Ramp3 |
T |
C |
11: 6,626,476 (GRCm39) |
|
probably benign |
Het |
Rasgrf1 |
T |
A |
9: 89,833,062 (GRCm39) |
|
probably benign |
Het |
Rictor |
A |
G |
15: 6,803,467 (GRCm39) |
|
probably benign |
Het |
Rptor |
A |
T |
11: 119,775,780 (GRCm39) |
I984F |
probably benign |
Het |
Slc1a6 |
C |
T |
10: 78,631,842 (GRCm39) |
P223S |
probably benign |
Het |
Taar8b |
A |
C |
10: 23,967,924 (GRCm39) |
V90G |
probably damaging |
Het |
Tbc1d21 |
A |
G |
9: 58,267,160 (GRCm39) |
V327A |
probably benign |
Het |
Tex21 |
T |
C |
12: 76,250,940 (GRCm39) |
T499A |
probably benign |
Het |
Tg |
A |
T |
15: 66,550,638 (GRCm39) |
D256V |
probably damaging |
Het |
Tmf1 |
A |
G |
6: 97,153,453 (GRCm39) |
S207P |
probably benign |
Het |
Tpr |
A |
G |
1: 150,269,158 (GRCm39) |
|
probably benign |
Het |
Ufd1 |
A |
G |
16: 18,633,637 (GRCm39) |
T21A |
probably damaging |
Het |
Unc13a |
T |
C |
8: 72,108,929 (GRCm39) |
D115G |
possibly damaging |
Het |
Usb1 |
T |
A |
8: 96,070,669 (GRCm39) |
F198L |
probably damaging |
Het |
Utrn |
A |
T |
10: 12,573,902 (GRCm39) |
|
probably benign |
Het |
Vars1 |
A |
G |
17: 35,233,276 (GRCm39) |
N954S |
probably damaging |
Het |
Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
Wdr33 |
C |
T |
18: 31,968,429 (GRCm39) |
|
probably benign |
Het |
Zfp236 |
A |
G |
18: 82,658,369 (GRCm39) |
|
probably benign |
Het |
Zfp445 |
A |
T |
9: 122,690,823 (GRCm39) |
V124E |
probably damaging |
Het |
Zfp616 |
A |
T |
11: 73,975,648 (GRCm39) |
H639L |
probably damaging |
Het |
Zfyve16 |
C |
A |
13: 92,657,985 (GRCm39) |
S642I |
probably damaging |
Het |
Zswim5 |
C |
T |
4: 116,842,943 (GRCm39) |
T896I |
possibly 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 |
|
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 |
R7033:Cfap57
|
UTSW |
4 |
118,470,323 (GRCm39) |
missense |
possibly damaging |
0.67 |
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'- TGCTTGGATGCAGACAGATGCTG -3'
(R):5'- TCTCCGCTTTGCTGAAGGAACC -3'
Sequencing Primer
(F):5'- gtgtagtgcccgcagag -3'
(R):5'- TTTGCTGAAGGAACCCTAAAGC -3'
|
Posted On |
2013-09-03 |