Incidental Mutation 'R4999:Cfap57'
ID |
389706 |
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 |
042593-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4999 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
118411748-118477974 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 118453045 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 553
(S553A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071972]
[ENSMUST00000081921]
|
AlphaFold |
Q9D180 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071972
AA Change: S553A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000071863 Gene: ENSMUSG00000028730 AA Change: S553A
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 benign
Transcript: ENSMUST00000081921
AA Change: S553A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000080592 Gene: ENSMUSG00000028730 AA Change: S553A
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: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.7%
|
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930444P10Rik |
A |
G |
1: 16,139,022 (GRCm39) |
|
probably null |
Het |
Abca4 |
T |
A |
3: 121,899,019 (GRCm39) |
V667D |
probably damaging |
Het |
Aco1 |
A |
G |
4: 40,176,507 (GRCm39) |
I224V |
probably damaging |
Het |
Arel1 |
C |
T |
12: 84,978,541 (GRCm39) |
V364M |
probably damaging |
Het |
Arhgap42 |
A |
G |
9: 9,009,435 (GRCm39) |
V484A |
probably damaging |
Het |
Asap2 |
T |
C |
12: 21,302,766 (GRCm39) |
F681L |
probably benign |
Het |
Atrn |
C |
A |
2: 130,817,874 (GRCm39) |
D809E |
probably damaging |
Het |
Ccdc70 |
G |
A |
8: 22,463,266 (GRCm39) |
V19M |
possibly damaging |
Het |
Ccp110 |
G |
T |
7: 118,329,235 (GRCm39) |
E73* |
probably null |
Het |
Cftr |
A |
G |
6: 18,221,613 (GRCm39) |
K212E |
probably benign |
Het |
Chkb |
A |
T |
15: 89,312,368 (GRCm39) |
Y216N |
probably damaging |
Het |
Cntnap2 |
G |
T |
6: 45,897,768 (GRCm39) |
D149Y |
probably damaging |
Het |
Cpd |
A |
G |
11: 76,737,048 (GRCm39) |
|
probably null |
Het |
Creb3l1 |
C |
T |
2: 91,813,571 (GRCm39) |
D489N |
probably benign |
Het |
Crhbp |
A |
G |
13: 95,578,753 (GRCm39) |
F123L |
probably damaging |
Het |
Cryab |
T |
C |
9: 50,665,909 (GRCm39) |
V100A |
possibly damaging |
Het |
Csmd2 |
T |
C |
4: 128,415,723 (GRCm39) |
I2684T |
probably benign |
Het |
Ctbp2 |
G |
T |
7: 132,616,378 (GRCm39) |
P186T |
possibly damaging |
Het |
Ctnna2 |
T |
C |
6: 76,892,745 (GRCm39) |
N814S |
possibly damaging |
Het |
Dntt |
T |
C |
19: 41,028,295 (GRCm39) |
V197A |
probably damaging |
Het |
Fam135a |
G |
A |
1: 24,059,758 (GRCm39) |
A1187V |
possibly damaging |
Het |
Filip1l |
A |
T |
16: 57,390,778 (GRCm39) |
Q455H |
probably benign |
Het |
Grm2 |
T |
C |
9: 106,531,189 (GRCm39) |
E100G |
probably damaging |
Het |
Gtf2ird2 |
G |
A |
5: 134,246,306 (GRCm39) |
V855M |
probably damaging |
Het |
Heatr9 |
A |
T |
11: 83,409,618 (GRCm39) |
I118N |
possibly damaging |
Het |
Htra3 |
T |
C |
5: 35,828,469 (GRCm39) |
H137R |
probably benign |
Het |
Iars1 |
A |
G |
13: 49,863,137 (GRCm39) |
S530G |
probably damaging |
Het |
Klhdc4 |
T |
A |
8: 122,523,342 (GRCm39) |
M510L |
probably benign |
Het |
Lipc |
T |
C |
9: 70,724,013 (GRCm39) |
T204A |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,389,648 (GRCm39) |
V3129A |
probably damaging |
Het |
Macf1 |
G |
A |
4: 123,388,702 (GRCm39) |
T1120I |
probably benign |
Het |
Maco1 |
A |
G |
4: 134,555,444 (GRCm39) |
I343T |
probably benign |
Het |
Map4 |
T |
C |
9: 109,867,445 (GRCm39) |
|
probably benign |
Het |
Mbtps1 |
A |
T |
8: 120,260,087 (GRCm39) |
V420D |
probably damaging |
Het |
Mta2 |
G |
T |
19: 8,927,747 (GRCm39) |
D523Y |
probably benign |
Het |
Mtcl2 |
C |
T |
2: 156,864,776 (GRCm39) |
G1144D |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,576,670 (GRCm39) |
|
probably benign |
Het |
Mug1 |
C |
T |
6: 121,855,902 (GRCm39) |
Q965* |
probably null |
Het |
Myo1e |
T |
A |
9: 70,260,594 (GRCm39) |
I584N |
probably damaging |
Het |
Nolc1 |
T |
C |
19: 46,067,359 (GRCm39) |
V80A |
probably damaging |
Het |
Nop56 |
G |
T |
2: 130,117,645 (GRCm39) |
V91L |
probably benign |
Het |
Or5b99 |
A |
T |
19: 12,976,583 (GRCm39) |
M78L |
probably benign |
Het |
Or5h23 |
A |
T |
16: 58,906,765 (GRCm39) |
L27Q |
probably damaging |
Het |
Or6f2 |
T |
C |
7: 139,756,933 (GRCm39) |
V300A |
probably damaging |
Het |
Osbpl3 |
T |
C |
6: 50,313,277 (GRCm39) |
E107G |
probably damaging |
Het |
Pde3a |
T |
A |
6: 141,195,751 (GRCm39) |
C146S |
probably benign |
Het |
Pfkm |
A |
G |
15: 98,026,123 (GRCm39) |
M573V |
probably damaging |
Het |
Pkd1l2 |
C |
T |
8: 117,774,113 (GRCm39) |
|
probably null |
Het |
Plekhg3 |
T |
C |
12: 76,612,021 (GRCm39) |
I374T |
possibly damaging |
Het |
Ppig |
T |
A |
2: 69,571,830 (GRCm39) |
V183D |
unknown |
Het |
Prom1 |
T |
G |
5: 44,194,876 (GRCm39) |
I290L |
probably benign |
Het |
Rufy3 |
T |
A |
5: 88,785,085 (GRCm39) |
M387K |
probably damaging |
Het |
Selenoo |
G |
A |
15: 88,978,387 (GRCm39) |
R270H |
probably damaging |
Het |
Sema3d |
T |
A |
5: 12,558,054 (GRCm39) |
|
probably null |
Het |
Sema6c |
C |
T |
3: 95,075,674 (GRCm39) |
T175I |
probably damaging |
Het |
Serpina3k |
T |
C |
12: 104,307,305 (GRCm39) |
I179T |
probably damaging |
Het |
Sf3b3 |
T |
C |
8: 111,567,835 (GRCm39) |
T207A |
probably benign |
Het |
Slc22a26 |
C |
A |
19: 7,779,546 (GRCm39) |
R90L |
probably damaging |
Het |
Slitrk5 |
T |
C |
14: 111,917,648 (GRCm39) |
V424A |
probably damaging |
Het |
Smarca2 |
G |
T |
19: 26,698,255 (GRCm39) |
E89* |
probably null |
Het |
Stab2 |
T |
A |
10: 86,773,773 (GRCm39) |
S853C |
probably damaging |
Het |
Stk17b |
A |
T |
1: 53,800,306 (GRCm39) |
|
probably null |
Het |
Taar5 |
T |
A |
10: 23,847,445 (GRCm39) |
I281N |
possibly damaging |
Het |
Tars3 |
A |
T |
7: 65,308,683 (GRCm39) |
E284D |
probably damaging |
Het |
Tbx15 |
C |
A |
3: 99,223,649 (GRCm39) |
T279K |
probably damaging |
Het |
Tfr2 |
G |
A |
5: 137,585,187 (GRCm39) |
V740I |
probably benign |
Het |
Tlr12 |
T |
C |
4: 128,511,473 (GRCm39) |
E259G |
probably benign |
Het |
Tmem145 |
A |
G |
7: 25,008,459 (GRCm39) |
T302A |
probably benign |
Het |
Trappc14 |
T |
A |
5: 138,259,884 (GRCm39) |
T391S |
probably damaging |
Het |
Trpa1 |
G |
T |
1: 14,946,085 (GRCm39) |
H1015Q |
probably benign |
Het |
Tspan8 |
A |
G |
10: 115,653,534 (GRCm39) |
Y10C |
possibly damaging |
Het |
Ttll7 |
A |
G |
3: 146,600,224 (GRCm39) |
N44S |
probably damaging |
Het |
Uba7 |
T |
C |
9: 107,857,038 (GRCm39) |
|
probably null |
Het |
Ube2j2 |
G |
A |
4: 156,030,841 (GRCm39) |
M1I |
probably null |
Het |
Ubr5 |
C |
A |
15: 38,009,912 (GRCm39) |
A1022S |
probably benign |
Het |
Usf1 |
T |
G |
1: 171,243,331 (GRCm39) |
I36S |
probably damaging |
Het |
Vmn1r181 |
A |
T |
7: 23,683,790 (GRCm39) |
D85V |
probably damaging |
Het |
Vmn1r3 |
A |
T |
4: 3,185,009 (GRCm39) |
Y99* |
probably null |
Het |
Vmn1r72 |
T |
C |
7: 11,404,300 (GRCm39) |
I49M |
possibly damaging |
Het |
Vmn2r99 |
A |
G |
17: 19,582,397 (GRCm39) |
M1V |
probably null |
Het |
Vsig10 |
T |
A |
5: 117,482,040 (GRCm39) |
V410E |
probably damaging |
Het |
Zc3h7b |
A |
G |
15: 81,663,334 (GRCm39) |
Y442C |
probably damaging |
Het |
Zfyve26 |
G |
T |
12: 79,327,159 (GRCm39) |
Y730* |
probably null |
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 |
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'- CGCATGCTTCCCTTCAGAAG -3'
(R):5'- TATTAGAGCCCCTGAGTTTGTCTCC -3'
Sequencing Primer
(F):5'- TTCCCTTCAGAAGCCCAGGAG -3'
(R):5'- CTCCCCAAGTTGGTGTGC -3'
|
Posted On |
2016-06-06 |