Incidental Mutation 'R0415:Cfap57'
ID |
40216 |
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 |
038617-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0415 (G1)
|
Quality Score |
204 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
118411748-118477974 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 118426628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 1107
(L1107Q)
|
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: L1107Q
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000071863 Gene: ENSMUSG00000028730 AA Change: L1107Q
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: L1107Q
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000080592 Gene: ENSMUSG00000028730 AA Change: L1107Q
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 |
0.2268 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
97% (99/102) |
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: 98 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427G23Rik |
A |
T |
5: 24,036,048 (GRCm39) |
|
noncoding transcript |
Het |
Acox2 |
A |
G |
14: 8,243,835 (GRCm38) |
|
probably benign |
Het |
Adgb |
T |
C |
10: 10,306,811 (GRCm39) |
|
probably null |
Het |
Adgra3 |
C |
A |
5: 50,119,099 (GRCm39) |
|
probably benign |
Het |
Adgre4 |
G |
A |
17: 56,159,288 (GRCm39) |
V658I |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,990,235 (GRCm39) |
|
probably benign |
Het |
Anapc2 |
A |
G |
2: 25,168,337 (GRCm39) |
T159A |
probably damaging |
Het |
Arfgef3 |
A |
G |
10: 18,488,875 (GRCm39) |
|
probably benign |
Het |
Atf7ip |
C |
T |
6: 136,537,010 (GRCm39) |
S81L |
possibly damaging |
Het |
Cacna1i |
A |
G |
15: 80,253,031 (GRCm39) |
|
probably benign |
Het |
Camk1 |
A |
T |
6: 113,318,852 (GRCm39) |
Y20* |
probably null |
Het |
Ccdc40 |
T |
C |
11: 119,122,944 (GRCm39) |
Y249H |
possibly damaging |
Het |
Cd109 |
T |
A |
9: 78,619,897 (GRCm39) |
S1380T |
probably benign |
Het |
Col6a4 |
C |
T |
9: 105,952,279 (GRCm39) |
V540I |
probably damaging |
Het |
Cst9 |
T |
A |
2: 148,680,362 (GRCm39) |
|
probably benign |
Het |
Cul5 |
C |
T |
9: 53,578,370 (GRCm39) |
V73I |
probably benign |
Het |
Cxcl16 |
T |
A |
11: 70,349,574 (GRCm39) |
K84* |
probably null |
Het |
Cyp2c29 |
T |
C |
19: 39,317,539 (GRCm39) |
|
probably benign |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dip2c |
C |
T |
13: 9,618,325 (GRCm39) |
|
probably benign |
Het |
Dis3 |
A |
T |
14: 99,324,892 (GRCm39) |
I513N |
probably damaging |
Het |
Dnajc16 |
A |
T |
4: 141,516,359 (GRCm39) |
L3* |
probably null |
Het |
Dop1a |
T |
A |
9: 86,388,555 (GRCm39) |
L480M |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,699,392 (GRCm39) |
V1787A |
possibly damaging |
Het |
Etnk1 |
A |
G |
6: 143,126,500 (GRCm39) |
N115S |
probably damaging |
Het |
Fryl |
T |
C |
5: 73,255,757 (GRCm39) |
Y758C |
probably damaging |
Het |
Gbp4 |
G |
A |
5: 105,268,972 (GRCm39) |
R394C |
possibly damaging |
Het |
Ggnbp2 |
A |
C |
11: 84,724,051 (GRCm39) |
|
probably benign |
Het |
Gm7137 |
A |
G |
10: 77,624,007 (GRCm39) |
|
probably benign |
Het |
Gstm2 |
T |
A |
3: 107,891,322 (GRCm39) |
Q132L |
probably benign |
Het |
Habp2 |
T |
C |
19: 56,306,149 (GRCm39) |
|
probably benign |
Het |
Hectd2 |
T |
C |
19: 36,562,284 (GRCm39) |
|
probably benign |
Het |
Htr6 |
A |
G |
4: 138,789,392 (GRCm39) |
I291T |
possibly damaging |
Het |
Ighg2c |
T |
C |
12: 113,251,530 (GRCm39) |
D199G |
unknown |
Het |
Itih2 |
A |
G |
2: 10,110,426 (GRCm39) |
|
probably benign |
Het |
Kcnab2 |
A |
G |
4: 152,479,593 (GRCm39) |
F248S |
probably benign |
Het |
Kcnc4 |
T |
C |
3: 107,352,749 (GRCm39) |
K610E |
probably damaging |
Het |
Kcnk16 |
T |
A |
14: 20,313,043 (GRCm39) |
|
probably null |
Het |
Kndc1 |
C |
T |
7: 139,510,037 (GRCm39) |
T1293I |
probably damaging |
Het |
Lcp1 |
A |
T |
14: 75,464,446 (GRCm39) |
I556F |
possibly damaging |
Het |
Lrrc8d |
T |
C |
5: 105,959,731 (GRCm39) |
L47P |
probably damaging |
Het |
Lyset |
T |
A |
12: 102,711,135 (GRCm39) |
Y119* |
probably null |
Het |
Lyst |
T |
C |
13: 13,886,195 (GRCm39) |
|
probably benign |
Het |
Macrod2 |
G |
A |
2: 142,052,065 (GRCm39) |
|
probably null |
Het |
Mical2 |
C |
T |
7: 111,980,235 (GRCm39) |
R70C |
probably damaging |
Het |
Mllt3 |
ACTGCTGCTGCTGCTGCTGCT |
ACTGCTGCTGCTGCTGCT |
4: 87,759,576 (GRCm39) |
|
probably benign |
Het |
Msh3 |
A |
G |
13: 92,483,294 (GRCm39) |
V283A |
possibly damaging |
Het |
Nup205 |
T |
C |
6: 35,191,569 (GRCm39) |
|
probably benign |
Het |
Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
Or51e2 |
C |
T |
7: 102,391,294 (GRCm39) |
M305I |
probably benign |
Het |
Or5m10 |
A |
T |
2: 85,717,782 (GRCm39) |
I213F |
possibly damaging |
Het |
Or5m9 |
A |
T |
2: 85,877,399 (GRCm39) |
H191L |
probably benign |
Het |
Or8c15 |
A |
T |
9: 38,121,269 (GRCm39) |
M305L |
probably benign |
Het |
Or8g2 |
A |
G |
9: 39,821,279 (GRCm39) |
Y60C |
probably damaging |
Het |
Pard3 |
G |
A |
8: 128,337,047 (GRCm39) |
G1221D |
probably damaging |
Het |
Pax5 |
G |
A |
4: 44,691,886 (GRCm39) |
A120V |
probably damaging |
Het |
Pcsk6 |
C |
T |
7: 65,683,622 (GRCm39) |
R746C |
probably damaging |
Het |
Pif1 |
G |
A |
9: 65,495,333 (GRCm39) |
C81Y |
probably benign |
Het |
Plcb1 |
A |
G |
2: 135,179,419 (GRCm39) |
Y609C |
probably damaging |
Het |
Plcd4 |
C |
A |
1: 74,591,256 (GRCm39) |
S217Y |
probably damaging |
Het |
Plxna1 |
G |
A |
6: 89,334,318 (GRCm39) |
H104Y |
probably benign |
Het |
Polr2k |
A |
G |
15: 36,175,602 (GRCm39) |
Y45C |
probably damaging |
Het |
Prex1 |
A |
G |
2: 166,428,619 (GRCm39) |
|
probably benign |
Het |
Pth2r |
A |
G |
1: 65,427,598 (GRCm39) |
M424V |
probably benign |
Het |
Pygm |
A |
G |
19: 6,441,396 (GRCm39) |
R464G |
probably benign |
Het |
Rad51c |
A |
G |
11: 87,288,481 (GRCm39) |
L234P |
probably damaging |
Het |
Rnf145 |
A |
G |
11: 44,415,965 (GRCm39) |
Y60C |
probably damaging |
Het |
Rnf167 |
T |
C |
11: 70,540,525 (GRCm39) |
I135T |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,305,295 (GRCm39) |
I509F |
probably damaging |
Het |
Ro60 |
G |
T |
1: 143,635,813 (GRCm39) |
N444K |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,884,042 (GRCm39) |
S213G |
probably damaging |
Het |
Selenbp1 |
T |
C |
3: 94,844,224 (GRCm39) |
V27A |
possibly damaging |
Het |
Selenof |
T |
G |
3: 144,283,453 (GRCm39) |
L14R |
probably damaging |
Het |
Sfswap |
A |
T |
5: 129,581,190 (GRCm39) |
D121V |
probably damaging |
Het |
Slc25a34 |
C |
A |
4: 141,347,780 (GRCm39) |
M300I |
possibly damaging |
Het |
Slc34a3 |
T |
G |
2: 25,119,122 (GRCm39) |
T583P |
probably benign |
Het |
Slc66a3 |
C |
A |
12: 17,047,711 (GRCm39) |
|
probably benign |
Het |
Smg1 |
C |
A |
7: 117,781,691 (GRCm39) |
A1199S |
probably benign |
Het |
Spint1 |
A |
G |
2: 119,076,096 (GRCm39) |
T231A |
probably damaging |
Het |
Sptbn1 |
A |
C |
11: 30,099,576 (GRCm39) |
N229K |
probably damaging |
Het |
Sult2b1 |
A |
G |
7: 45,379,516 (GRCm39) |
|
probably benign |
Het |
Tas2r123 |
A |
T |
6: 132,824,801 (GRCm39) |
M233L |
probably damaging |
Het |
Tbcel |
C |
A |
9: 42,355,796 (GRCm39) |
C139F |
probably benign |
Het |
Thbs2 |
A |
C |
17: 14,900,235 (GRCm39) |
S573A |
probably benign |
Het |
Tmem132c |
A |
G |
5: 127,640,769 (GRCm39) |
E980G |
probably damaging |
Het |
Tmem247 |
G |
T |
17: 87,229,750 (GRCm39) |
C197F |
probably damaging |
Het |
Tmem43 |
C |
A |
6: 91,459,300 (GRCm39) |
P257Q |
probably benign |
Het |
Tmprss13 |
A |
G |
9: 45,248,430 (GRCm39) |
|
probably null |
Het |
Ubr5 |
T |
C |
15: 37,973,224 (GRCm39) |
T2626A |
probably damaging |
Het |
Vmn1r196 |
T |
A |
13: 22,478,006 (GRCm39) |
V215D |
probably damaging |
Het |
Vmn1r22 |
G |
T |
6: 57,877,317 (GRCm39) |
T220K |
probably benign |
Het |
Vmn2r116 |
G |
A |
17: 23,606,253 (GRCm39) |
M388I |
possibly damaging |
Het |
Vmn2r74 |
A |
C |
7: 85,610,618 (GRCm39) |
C25G |
probably damaging |
Het |
Xndc1 |
T |
C |
7: 101,729,823 (GRCm39) |
|
probably benign |
Het |
Zfp282 |
A |
G |
6: 47,874,815 (GRCm39) |
D340G |
probably damaging |
Het |
Zfp282 |
T |
A |
6: 47,881,987 (GRCm39) |
I558N |
possibly damaging |
Het |
Zfp316 |
T |
A |
5: 143,250,246 (GRCm39) |
T56S |
unknown |
Het |
Zfp345 |
A |
G |
2: 150,316,479 (GRCm39) |
|
probably benign |
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 |
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 |
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'- ATGGTGACAGCCAGGATGAGCTAC -3'
(R):5'- TCCGACGCTTCAAGACAGACCTTC -3'
Sequencing Primer
(F):5'- GCCAGGATGAGCTACTGGAG -3'
(R):5'- AGAAGATCCGTGGCCTCTTTG -3'
|
Posted On |
2013-05-23 |