Incidental Mutation 'R1782:Cfap57'
| ID |
195369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap57
|
| Ensembl Gene |
ENSMUSG00000028730 |
| Gene Name |
cilia and flagella associated protein 57 |
| Synonyms |
Wdr65, 1110020C03Rik, C130004B06Rik, LOC384050 |
| MMRRC Submission |
039813-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1782 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118554551-118620777 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 118614975 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 69
(R69L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071972]
[ENSMUST00000081921]
|
| AlphaFold |
Q9D180 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071972
AA Change: R69L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: R69L
| 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 damaging
Transcript: ENSMUST00000081921
AA Change: R69L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: R69L
| 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: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.3%
|
| Validation Efficiency |
|
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921501E09Rik |
T |
C |
17: 33,067,688 (GRCm38) |
I47V |
probably benign |
Het |
| 9330182L06Rik |
A |
T |
5: 9,421,620 (GRCm38) |
K320N |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,297,971 (GRCm38) |
T2573S |
probably benign |
Het |
| Adgra3 |
G |
T |
5: 49,972,062 (GRCm38) |
T738K |
probably benign |
Het |
| Adgrl4 |
C |
T |
3: 151,542,805 (GRCm38) |
Q705* |
probably null |
Het |
| Atp2b1 |
T |
G |
10: 99,003,201 (GRCm38) |
D630E |
probably benign |
Het |
| Atp2c1 |
G |
A |
9: 105,431,587 (GRCm38) |
R577C |
probably damaging |
Het |
| Atp9b |
A |
G |
18: 80,765,922 (GRCm38) |
V211A |
probably damaging |
Het |
| C8g |
T |
A |
2: 25,499,082 (GRCm38) |
D163V |
possibly damaging |
Het |
| Catsper1 |
T |
C |
19: 5,335,909 (GRCm38) |
Y57H |
probably benign |
Het |
| Ccdc25 |
C |
T |
14: 65,854,148 (GRCm38) |
A72V |
probably benign |
Het |
| Cdca2 |
T |
G |
14: 67,677,811 (GRCm38) |
E666D |
probably benign |
Het |
| Cdh23 |
G |
A |
10: 60,488,542 (GRCm38) |
T313I |
probably damaging |
Het |
| Chat |
C |
A |
14: 32,408,987 (GRCm38) |
V566L |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,273,811 (GRCm38) |
I259V |
probably damaging |
Het |
| Cog1 |
A |
G |
11: 113,653,966 (GRCm38) |
T325A |
probably benign |
Het |
| Cxcl10 |
A |
G |
5: 92,347,803 (GRCm38) |
*94Q |
probably null |
Het |
| Cyp4a12b |
T |
C |
4: 115,433,981 (GRCm38) |
Y369H |
probably damaging |
Het |
| Dhx33 |
T |
C |
11: 71,001,640 (GRCm38) |
Y101C |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,811,846 (GRCm38) |
M1593T |
probably damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,708,155 (GRCm38) |
T488A |
possibly damaging |
Het |
| Fam198b |
T |
C |
3: 79,886,531 (GRCm38) |
L102S |
possibly damaging |
Het |
| Fbxw14 |
A |
G |
9: 109,278,691 (GRCm38) |
I205T |
possibly damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,903,819 (GRCm38) |
F84L |
probably benign |
Het |
| Flii |
T |
C |
11: 60,714,636 (GRCm38) |
T1212A |
probably benign |
Het |
| Fosl1 |
T |
A |
19: 5,450,182 (GRCm38) |
I43N |
probably damaging |
Het |
| Gabrr2 |
G |
A |
4: 33,085,593 (GRCm38) |
A338T |
probably damaging |
Het |
| Gatad2b |
T |
C |
3: 90,341,871 (GRCm38) |
V72A |
probably benign |
Het |
| Gorasp1 |
G |
T |
9: 119,932,822 (GRCm38) |
N48K |
probably damaging |
Het |
| Gramd1b |
C |
A |
9: 40,413,337 (GRCm38) |
D139Y |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,667,074 (GRCm38) |
V1030E |
probably damaging |
Het |
| H2afy |
A |
T |
13: 56,074,321 (GRCm38) |
M339K |
probably damaging |
Het |
| Havcr2 |
C |
T |
11: 46,455,017 (GRCm38) |
T6I |
unknown |
Het |
| Hgs |
A |
G |
11: 120,478,505 (GRCm38) |
E340G |
probably damaging |
Het |
| Irx2 |
A |
G |
13: 72,631,466 (GRCm38) |
T290A |
probably benign |
Het |
| Itgb8 |
T |
A |
12: 119,192,118 (GRCm38) |
I200F |
probably damaging |
Het |
| Josd2 |
A |
G |
7: 44,471,153 (GRCm38) |
I105V |
probably damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,736,169 (GRCm38) |
D806V |
probably damaging |
Het |
| Kctd8 |
A |
G |
5: 69,340,976 (GRCm38) |
V109A |
possibly damaging |
Het |
| Kmt2d |
T |
A |
15: 98,857,548 (GRCm38) |
|
probably benign |
Het |
| Krtap2-4 |
A |
T |
11: 99,614,527 (GRCm38) |
V86E |
probably damaging |
Het |
| Lgr6 |
C |
G |
1: 134,987,979 (GRCm38) |
V344L |
probably damaging |
Het |
| Lime1 |
A |
T |
2: 181,383,056 (GRCm38) |
R168W |
possibly damaging |
Het |
| Magel2 |
C |
T |
7: 62,380,857 (GRCm38) |
Q1170* |
probably null |
Het |
| Ndufaf3 |
A |
T |
9: 108,566,011 (GRCm38) |
I169N |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,284,345 (GRCm38) |
K1501* |
probably null |
Het |
| Nim1k |
A |
T |
13: 119,712,151 (GRCm38) |
S402R |
probably benign |
Het |
| Nt5dc2 |
T |
G |
14: 31,138,201 (GRCm38) |
S395R |
probably damaging |
Het |
| Oaz2 |
G |
T |
9: 65,688,861 (GRCm38) |
V132L |
probably benign |
Het |
| Olfr1089 |
T |
C |
2: 86,732,682 (GRCm38) |
K310R |
probably benign |
Het |
| Olfr1457 |
T |
A |
19: 13,094,803 (GRCm38) |
I282F |
probably damaging |
Het |
| Olfr315 |
T |
A |
11: 58,778,805 (GRCm38) |
L226H |
probably damaging |
Het |
| Olfr723 |
A |
T |
14: 49,928,639 (GRCm38) |
W302R |
probably benign |
Het |
| Olfr843 |
C |
T |
9: 19,248,581 (GRCm38) |
V273I |
probably benign |
Het |
| Pfkl |
A |
G |
10: 77,988,720 (GRCm38) |
V717A |
probably benign |
Het |
| Phgdh |
C |
T |
3: 98,320,747 (GRCm38) |
V231I |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,565,711 (GRCm38) |
M465K |
probably damaging |
Het |
| Ppp3r1 |
A |
G |
11: 17,198,281 (GRCm38) |
H163R |
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,122,173 (GRCm38) |
N1680K |
probably benign |
Het |
| Puf60 |
T |
A |
15: 76,071,875 (GRCm38) |
I216L |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,799,885 (GRCm38) |
N190K |
probably benign |
Het |
| Rp1 |
G |
A |
1: 4,349,089 (GRCm38) |
S600L |
probably benign |
Het |
| Rpl3l |
A |
G |
17: 24,733,456 (GRCm38) |
I217V |
probably benign |
Het |
| Scly |
T |
A |
1: 91,308,380 (GRCm38) |
V194D |
probably damaging |
Het |
| Scnn1b |
A |
G |
7: 121,917,961 (GRCm38) |
T607A |
probably benign |
Het |
| Slc13a3 |
G |
A |
2: 165,445,519 (GRCm38) |
L172F |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 45,805,696 (GRCm38) |
Y1090C |
probably damaging |
Het |
| Spag17 |
T |
A |
3: 100,010,754 (GRCm38) |
M351K |
probably benign |
Het |
| St14 |
A |
G |
9: 31,100,164 (GRCm38) |
Y444H |
probably damaging |
Het |
| Taf8 |
C |
A |
17: 47,498,211 (GRCm38) |
A109S |
probably benign |
Het |
| Tbc1d30 |
T |
A |
10: 121,267,620 (GRCm38) |
K502N |
probably damaging |
Het |
| Them5 |
T |
C |
3: 94,344,489 (GRCm38) |
S136P |
probably benign |
Het |
| Tmem248 |
T |
A |
5: 130,231,928 (GRCm38) |
N111K |
probably damaging |
Het |
| Tmem74 |
C |
A |
15: 43,866,952 (GRCm38) |
V232L |
probably damaging |
Het |
| Tnip2 |
A |
T |
5: 34,499,668 (GRCm38) |
H264Q |
probably benign |
Het |
| Trim5 |
A |
G |
7: 104,265,816 (GRCm38) |
|
probably null |
Het |
| Trim63 |
A |
G |
4: 134,323,038 (GRCm38) |
Q211R |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,822,703 (GRCm38) |
V2231A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,735,487 (GRCm38) |
S28174G |
probably benign |
Het |
| Ugt2b36 |
T |
C |
5: 87,081,581 (GRCm38) |
D341G |
possibly damaging |
Het |
| Uroc1 |
G |
A |
6: 90,336,919 (GRCm38) |
E63K |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,911,185 (GRCm38) |
V4248A |
probably benign |
Het |
| Usp1 |
A |
G |
4: 98,934,198 (GRCm38) |
H583R |
probably damaging |
Het |
| Usp8 |
T |
A |
2: 126,720,051 (GRCm38) |
F55Y |
probably damaging |
Het |
| Vmn2r13 |
T |
A |
5: 109,158,174 (GRCm38) |
T513S |
probably benign |
Het |
| Wdr73 |
T |
C |
7: 80,891,778 (GRCm38) |
T339A |
probably damaging |
Het |
| Wnt2 |
T |
A |
6: 18,008,640 (GRCm38) |
N266I |
possibly damaging |
Het |
| Wwp2 |
AGAACT |
A |
8: 107,506,399 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Cfap57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Cfap57
|
APN |
4 |
118,581,001 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00508:Cfap57
|
APN |
4 |
118,581,170 (GRCm38) |
splice site |
probably null |
|
|
IGL00857:Cfap57
|
APN |
4 |
118,612,923 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01147:Cfap57
|
APN |
4 |
118,589,001 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01396:Cfap57
|
APN |
4 |
118,610,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01420:Cfap57
|
APN |
4 |
118,612,940 (GRCm38) |
missense |
probably benign |
0.21 |
|
IGL01615:Cfap57
|
APN |
4 |
118,600,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02154:Cfap57
|
APN |
4 |
118,613,017 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02161:Cfap57
|
APN |
4 |
118,579,372 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL02481:Cfap57
|
APN |
4 |
118,581,105 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02483:Cfap57
|
APN |
4 |
118,581,105 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02503:Cfap57
|
APN |
4 |
118,569,348 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02800:Cfap57
|
APN |
4 |
118,614,750 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03083:Cfap57
|
APN |
4 |
118,584,739 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL03146:Cfap57
|
APN |
4 |
118,599,019 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03246:Cfap57
|
APN |
4 |
118,576,645 (GRCm38) |
missense |
probably benign |
0.29 |
|
IGL03376:Cfap57
|
APN |
4 |
118,584,720 (GRCm38) |
missense |
probably damaging |
0.96 |
|
G1Funyon:Cfap57
|
UTSW |
4 |
118,593,074 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0144:Cfap57
|
UTSW |
4 |
118,584,705 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0184:Cfap57
|
UTSW |
4 |
118,599,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0415:Cfap57
|
UTSW |
4 |
118,569,431 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0515:Cfap57
|
UTSW |
4 |
118,620,402 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0690:Cfap57
|
UTSW |
4 |
118,569,727 (GRCm38) |
splice site |
probably benign |
|
|
R0730:Cfap57
|
UTSW |
4 |
118,612,920 (GRCm38) |
splice site |
probably null |
|
|
R0737:Cfap57
|
UTSW |
4 |
118,581,102 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0854:Cfap57
|
UTSW |
4 |
118,561,872 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0880:Cfap57
|
UTSW |
4 |
118,581,838 (GRCm38) |
nonsense |
probably null |
|
|
R1085:Cfap57
|
UTSW |
4 |
118,595,779 (GRCm38) |
missense |
probably benign |
0.20 |
|
R1119:Cfap57
|
UTSW |
4 |
118,606,676 (GRCm38) |
nonsense |
probably null |
|
|
R1217:Cfap57
|
UTSW |
4 |
118,606,652 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R1294:Cfap57
|
UTSW |
4 |
118,606,534 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1487:Cfap57
|
UTSW |
4 |
118,614,781 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1676:Cfap57
|
UTSW |
4 |
118,595,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1688:Cfap57
|
UTSW |
4 |
118,569,646 (GRCm38) |
missense |
probably null |
0.20 |
|
R1709:Cfap57
|
UTSW |
4 |
118,571,704 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1719:Cfap57
|
UTSW |
4 |
118,606,631 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1791:Cfap57
|
UTSW |
4 |
118,571,724 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R1850:Cfap57
|
UTSW |
4 |
118,599,894 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1866:Cfap57
|
UTSW |
4 |
118,599,927 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R1912:Cfap57
|
UTSW |
4 |
118,615,010 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1978:Cfap57
|
UTSW |
4 |
118,593,132 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2177:Cfap57
|
UTSW |
4 |
118,606,688 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2322:Cfap57
|
UTSW |
4 |
118,610,725 (GRCm38) |
missense |
probably benign |
|
|
R3905:Cfap57
|
UTSW |
4 |
118,595,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4013:Cfap57
|
UTSW |
4 |
118,593,143 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4079:Cfap57
|
UTSW |
4 |
118,598,997 (GRCm38) |
missense |
probably benign |
0.34 |
|
R4962:Cfap57
|
UTSW |
4 |
118,613,065 (GRCm38) |
missense |
probably benign |
0.21 |
|
R4970:Cfap57
|
UTSW |
4 |
118,620,371 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4974:Cfap57
|
UTSW |
4 |
118,593,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4999:Cfap57
|
UTSW |
4 |
118,595,848 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5482:Cfap57
|
UTSW |
4 |
118,569,641 (GRCm38) |
missense |
probably benign |
|
|
R5522:Cfap57
|
UTSW |
4 |
118,595,888 (GRCm38) |
missense |
probably benign |
0.41 |
|
R5626:Cfap57
|
UTSW |
4 |
118,614,783 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5685:Cfap57
|
UTSW |
4 |
118,569,459 (GRCm38) |
missense |
probably benign |
|
|
R5712:Cfap57
|
UTSW |
4 |
118,614,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5961:Cfap57
|
UTSW |
4 |
118,571,745 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6244:Cfap57
|
UTSW |
4 |
118,579,410 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6268:Cfap57
|
UTSW |
4 |
118,569,451 (GRCm38) |
nonsense |
probably null |
|
|
R6271:Cfap57
|
UTSW |
4 |
118,595,759 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6330:Cfap57
|
UTSW |
4 |
118,569,396 (GRCm38) |
missense |
probably benign |
|
|
R6439:Cfap57
|
UTSW |
4 |
118,588,975 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6639:Cfap57
|
UTSW |
4 |
118,554,712 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6722:Cfap57
|
UTSW |
4 |
118,584,717 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7033:Cfap57
|
UTSW |
4 |
118,613,126 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R7143:Cfap57
|
UTSW |
4 |
118,620,709 (GRCm38) |
unclassified |
probably benign |
|
|
R7162:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7174:Cfap57
|
UTSW |
4 |
118,589,067 (GRCm38) |
missense |
probably benign |
0.35 |
|
R7210:Cfap57
|
UTSW |
4 |
118,576,703 (GRCm38) |
nonsense |
probably null |
|
|
R7242:Cfap57
|
UTSW |
4 |
118,593,096 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R7244:Cfap57
|
UTSW |
4 |
118,554,800 (GRCm38) |
nonsense |
probably null |
|
|
R7359:Cfap57
|
UTSW |
4 |
118,598,965 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7373:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7394:Cfap57
|
UTSW |
4 |
118,593,137 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7401:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7412:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7414:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7452:Cfap57
|
UTSW |
4 |
118,595,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7457:Cfap57
|
UTSW |
4 |
118,589,001 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7559:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7642:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7741:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7744:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7745:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7842:Cfap57
|
UTSW |
4 |
118,554,755 (GRCm38) |
nonsense |
probably null |
|
|
R7936:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7940:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7942:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R8074:Cfap57
|
UTSW |
4 |
118,569,625 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R8301:Cfap57
|
UTSW |
4 |
118,593,074 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8411:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R8447:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R8491:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R8524:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R8670:Cfap57
|
UTSW |
4 |
118,614,925 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8707:Cfap57
|
UTSW |
4 |
118,593,006 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8790:Cfap57
|
UTSW |
4 |
118,581,914 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R8941:Cfap57
|
UTSW |
4 |
118,569,602 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9139:Cfap57
|
UTSW |
4 |
118,554,851 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9212:Cfap57
|
UTSW |
4 |
118,579,452 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9442:Cfap57
|
UTSW |
4 |
118,606,534 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9525:Cfap57
|
UTSW |
4 |
118,576,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0022:Cfap57
|
UTSW |
4 |
118,614,745 (GRCm38) |
missense |
probably benign |
|
|
Z1088:Cfap57
|
UTSW |
4 |
118,581,882 (GRCm38) |
missense |
probably benign |
0.22 |
|
Z1177:Cfap57
|
UTSW |
4 |
118,598,956 (GRCm38) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCTTTTCCCACAGCCAATAGAC -3'
(R):5'- TCAAACTAAGGGGTTGCCAGGGAC -3'
Sequencing Primer
(F):5'- CAGCCAATAGACGAGGTTTGAG -3'
(R):5'- CCAGGGACGGATCTTTGTG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation