Incidental Mutation 'R0184:Cfap57'
ID |
23936 |
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 |
038449-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0184 (G1)
|
Quality Score |
201 |
Status
|
Validated
(trace)
|
Chromosome |
4 |
Chromosomal Location |
118411748-118477974 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 118456209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 495
(I495N)
|
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: I495N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000071863 Gene: ENSMUSG00000028730 AA Change: I495N
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: I495N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000080592 Gene: ENSMUSG00000028730 AA Change: I495N
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 93.9%
|
Validation Efficiency |
66% (50/76) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
C |
A |
3: 124,212,899 (GRCm39) |
V131F |
probably damaging |
Het |
Adam28 |
T |
C |
14: 68,874,822 (GRCm39) |
D285G |
probably benign |
Het |
Akr1c13 |
A |
G |
13: 4,244,055 (GRCm39) |
E36G |
probably damaging |
Het |
Antxr2 |
A |
G |
5: 98,127,889 (GRCm39) |
L214S |
probably damaging |
Het |
Arhgap26 |
T |
A |
18: 38,750,726 (GRCm39) |
D46E |
unknown |
Het |
Armc9 |
T |
C |
1: 86,126,092 (GRCm39) |
L61P |
probably damaging |
Het |
Bicc1 |
C |
A |
10: 70,915,045 (GRCm39) |
R73L |
probably benign |
Het |
Calm2 |
T |
C |
17: 87,743,269 (GRCm39) |
N43S |
probably benign |
Het |
Cct7 |
A |
G |
6: 85,438,536 (GRCm39) |
D105G |
probably null |
Het |
Cdk18 |
T |
C |
1: 132,046,276 (GRCm39) |
N215D |
probably benign |
Het |
Cep126 |
T |
C |
9: 8,103,396 (GRCm39) |
T205A |
probably benign |
Het |
Cyp2b9 |
T |
A |
7: 25,886,432 (GRCm39) |
C152* |
probably null |
Het |
Dab2ip |
G |
A |
2: 35,608,803 (GRCm39) |
R579H |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,902,657 (GRCm39) |
V905A |
probably benign |
Het |
Eif4h |
C |
A |
5: 134,654,229 (GRCm39) |
D134Y |
possibly damaging |
Het |
Espl1 |
T |
A |
15: 102,207,651 (GRCm39) |
S372T |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,187,114 (GRCm39) |
H1244L |
probably damaging |
Het |
Fbxo11 |
T |
A |
17: 88,316,101 (GRCm39) |
N443I |
probably benign |
Het |
Git2 |
G |
A |
5: 114,877,098 (GRCm39) |
T128M |
possibly damaging |
Het |
Gm10985 |
T |
A |
3: 53,752,679 (GRCm39) |
Y21N |
probably damaging |
Het |
Gm12790 |
A |
T |
4: 101,824,811 (GRCm39) |
Y152* |
probably null |
Het |
Heatr5a |
T |
C |
12: 51,956,752 (GRCm39) |
D1115G |
probably benign |
Het |
Hipk2 |
T |
C |
6: 38,695,866 (GRCm39) |
N726S |
possibly damaging |
Het |
Hrg |
T |
C |
16: 22,772,521 (GRCm39) |
|
probably null |
Het |
Iars1 |
T |
G |
13: 49,875,688 (GRCm39) |
S792A |
probably benign |
Het |
Igf1r |
A |
G |
7: 67,875,941 (GRCm39) |
N1301S |
possibly damaging |
Het |
Il22 |
A |
T |
10: 118,041,511 (GRCm39) |
I75F |
probably damaging |
Het |
Ilkap |
T |
C |
1: 91,304,027 (GRCm39) |
|
probably benign |
Het |
Ints13 |
A |
T |
6: 146,456,542 (GRCm39) |
Y435N |
probably benign |
Het |
Ints8 |
A |
C |
4: 11,218,637 (GRCm39) |
S797A |
probably benign |
Het |
Itgad |
T |
A |
7: 127,788,403 (GRCm39) |
D405E |
probably benign |
Het |
Itgam |
A |
T |
7: 127,685,230 (GRCm39) |
I448F |
probably damaging |
Het |
Klk1 |
C |
T |
7: 43,878,173 (GRCm39) |
T41I |
possibly damaging |
Het |
Mcrip1 |
T |
C |
11: 120,435,710 (GRCm39) |
M1V |
probably null |
Het |
Mdga1 |
A |
G |
17: 30,071,416 (GRCm39) |
Y128H |
probably damaging |
Het |
Mtor |
G |
T |
4: 148,549,428 (GRCm39) |
R604L |
probably benign |
Het |
Or52p1 |
T |
C |
7: 104,267,447 (GRCm39) |
V187A |
probably damaging |
Het |
Or5d41 |
A |
T |
2: 88,055,124 (GRCm39) |
L84* |
probably null |
Het |
Pcdhb7 |
T |
A |
18: 37,476,443 (GRCm39) |
D526E |
probably benign |
Het |
Pip4k2a |
T |
C |
2: 18,893,939 (GRCm39) |
D139G |
probably damaging |
Het |
Pkp3 |
A |
C |
7: 140,668,280 (GRCm39) |
N536T |
probably benign |
Het |
Pla2g4c |
T |
A |
7: 13,090,145 (GRCm39) |
S524T |
probably benign |
Het |
Pno1 |
T |
C |
11: 17,161,127 (GRCm39) |
E69G |
probably benign |
Het |
Pold1 |
C |
T |
7: 44,191,139 (GRCm39) |
V231M |
probably benign |
Het |
Poli |
A |
G |
18: 70,655,802 (GRCm39) |
S248P |
probably damaging |
Het |
Ppox |
C |
T |
1: 171,107,126 (GRCm39) |
S138N |
probably damaging |
Het |
Psg20 |
T |
C |
7: 18,419,901 (GRCm39) |
E6G |
probably null |
Het |
Rbmx |
C |
T |
X: 56,436,926 (GRCm39) |
|
probably null |
Het |
Rln1 |
T |
A |
19: 29,309,336 (GRCm39) |
K148* |
probably null |
Het |
Rnf213 |
C |
T |
11: 119,305,347 (GRCm39) |
T526I |
probably damaging |
Het |
Rps6kc1 |
A |
T |
1: 190,531,290 (GRCm39) |
V904E |
probably null |
Het |
Sf3b2 |
T |
A |
19: 5,333,700 (GRCm39) |
I633F |
probably damaging |
Het |
Sfswap |
T |
A |
5: 129,584,253 (GRCm39) |
I189N |
probably damaging |
Het |
Smarca2 |
T |
A |
19: 26,669,649 (GRCm39) |
Y973* |
probably null |
Het |
Spink5 |
G |
A |
18: 44,136,265 (GRCm39) |
D559N |
probably benign |
Het |
Spty2d1 |
C |
T |
7: 46,647,322 (GRCm39) |
V536I |
possibly damaging |
Het |
Tbx3 |
T |
C |
5: 119,813,627 (GRCm39) |
I221T |
probably damaging |
Het |
Tcf20 |
T |
A |
15: 82,736,501 (GRCm39) |
D1650V |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 129,358,701 (GRCm39) |
K45R |
probably benign |
Het |
Tirap |
A |
G |
9: 35,100,490 (GRCm39) |
S65P |
probably benign |
Het |
Trim25 |
C |
T |
11: 88,890,466 (GRCm39) |
P51L |
probably damaging |
Het |
Trim61 |
T |
C |
8: 65,467,069 (GRCm39) |
N64S |
probably benign |
Het |
Twf1 |
T |
A |
15: 94,478,948 (GRCm39) |
|
probably null |
Het |
Ubr4 |
A |
C |
4: 139,172,573 (GRCm39) |
T1692P |
probably damaging |
Het |
Usp3 |
A |
G |
9: 66,469,863 (GRCm39) |
M86T |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,543,362 (GRCm39) |
D1762G |
probably benign |
Het |
V1rd19 |
T |
A |
7: 23,702,632 (GRCm39) |
F33I |
probably benign |
Het |
Vmn2r52 |
T |
C |
7: 9,893,265 (GRCm39) |
S625G |
probably damaging |
Het |
Vmn2r90 |
G |
A |
17: 17,947,139 (GRCm39) |
W472* |
probably null |
Het |
Vrk2 |
C |
A |
11: 26,500,046 (GRCm39) |
A56S |
probably damaging |
Het |
Yeats2 |
C |
T |
16: 20,022,435 (GRCm39) |
P620S |
possibly damaging |
Het |
Zbtb21 |
C |
T |
16: 97,751,713 (GRCm39) |
D171N |
probably damaging |
Het |
Zeb1 |
A |
T |
18: 5,766,808 (GRCm39) |
I440F |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,819,563 (GRCm39) |
I253T |
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 |
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 |
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'- ACCAAGCCTTTTCGAGCATCCC -3'
(R):5'- CTTCCTAGCCTGAATCAGTGTCTGC -3'
Sequencing Primer
(F):5'- TTAAGCCCACCTCTTCAGCAG -3'
(R):5'- CACCATGAGGTTCTGTGATAGAC -3'
|
Posted On |
2013-04-16 |