Incidental Mutation 'R7842:Cfap57'
ID |
606366 |
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 |
045896-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7842 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
118411748-118477974 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 118411952 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Stop codon
at position 1231
(G1231*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071863
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071972]
[ENSMUST00000081921]
|
AlphaFold |
Q9D180 |
Predicted Effect |
probably null
Transcript: ENSMUST00000071972
AA Change: G1231*
|
SMART Domains |
Protein: ENSMUSP00000071863 Gene: ENSMUSG00000028730 AA Change: G1231*
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
AA Change: G1231*
|
SMART Domains |
Protein: ENSMUSP00000080592 Gene: ENSMUSG00000028730 AA Change: G1231*
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (77/78) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
C |
6: 146,855,034 (GRCm39) |
T3A |
unknown |
Het |
4933412E24Rik |
T |
C |
15: 59,888,422 (GRCm39) |
E6G |
probably damaging |
Het |
Abca6 |
A |
G |
11: 110,087,523 (GRCm39) |
L1135P |
possibly damaging |
Het |
Agps |
A |
G |
2: 75,681,876 (GRCm39) |
D113G |
probably damaging |
Het |
Ankhd1 |
G |
T |
18: 36,780,881 (GRCm39) |
V1978L |
probably benign |
Het |
Ankrd31 |
T |
A |
13: 96,957,966 (GRCm39) |
|
probably null |
Het |
Arhgap5 |
T |
A |
12: 52,565,480 (GRCm39) |
M817K |
possibly damaging |
Het |
Bdp1 |
C |
A |
13: 100,235,637 (GRCm39) |
V105F |
probably damaging |
Het |
Brdt |
A |
G |
5: 107,496,454 (GRCm39) |
N189D |
possibly damaging |
Het |
Ccdc180 |
A |
T |
4: 45,909,428 (GRCm39) |
N532I |
probably benign |
Het |
Ccnc |
A |
C |
4: 21,730,480 (GRCm39) |
K39T |
probably damaging |
Het |
Cfap251 |
T |
C |
5: 123,392,487 (GRCm39) |
V207A |
unknown |
Het |
Chd7 |
A |
T |
4: 8,854,115 (GRCm39) |
T1896S |
probably benign |
Het |
Clk4 |
A |
T |
11: 51,171,956 (GRCm39) |
H412L |
probably benign |
Het |
Creld1 |
T |
C |
6: 113,465,100 (GRCm39) |
L109P |
probably damaging |
Het |
Cxxc4 |
A |
T |
3: 133,946,093 (GRCm39) |
I225L |
possibly damaging |
Het |
Cyp4f39 |
A |
T |
17: 32,702,291 (GRCm39) |
R263W |
probably benign |
Het |
Dennd10 |
G |
A |
19: 60,819,317 (GRCm39) |
A263T |
not run |
Het |
Dip2c |
T |
C |
13: 9,656,569 (GRCm39) |
|
probably null |
Het |
Dnah14 |
A |
G |
1: 181,455,463 (GRCm39) |
T863A |
probably damaging |
Het |
Dnah17 |
C |
A |
11: 117,970,508 (GRCm39) |
|
probably null |
Het |
Dnajc10 |
A |
G |
2: 80,175,409 (GRCm39) |
K599E |
probably benign |
Het |
Dnajc7 |
C |
A |
11: 100,489,544 (GRCm39) |
R101L |
probably benign |
Het |
Dnttip2 |
G |
A |
3: 122,069,990 (GRCm39) |
E402K |
probably benign |
Het |
Dusp22 |
T |
A |
13: 30,852,774 (GRCm39) |
|
probably null |
Het |
Egflam |
C |
A |
15: 7,280,675 (GRCm39) |
R450M |
probably null |
Het |
Eml5 |
C |
T |
12: 98,760,394 (GRCm39) |
R1785Q |
probably damaging |
Het |
Fam78b |
G |
T |
1: 166,829,178 (GRCm39) |
R15L |
probably damaging |
Het |
Fbxl5 |
A |
T |
5: 43,915,945 (GRCm39) |
I489N |
probably damaging |
Het |
Flt3 |
G |
A |
5: 147,271,263 (GRCm39) |
P893S |
probably damaging |
Het |
Gm17019 |
T |
C |
5: 15,081,049 (GRCm39) |
M131V |
possibly damaging |
Het |
Gm21560 |
T |
A |
14: 6,216,262 (GRCm38) |
I194F |
probably benign |
Het |
Gm28729 |
T |
C |
9: 96,399,705 (GRCm39) |
D158G |
probably damaging |
Het |
Gucy2c |
C |
T |
6: 136,746,814 (GRCm39) |
|
probably null |
Het |
Hectd1 |
C |
T |
12: 51,819,343 (GRCm39) |
G1247S |
probably damaging |
Het |
Ireb2 |
T |
A |
9: 54,816,970 (GRCm39) |
I946K |
probably benign |
Het |
Itgb4 |
A |
T |
11: 115,873,531 (GRCm39) |
D249V |
probably benign |
Het |
Klhdc7a |
A |
G |
4: 139,694,549 (GRCm39) |
S133P |
probably damaging |
Het |
Lsr |
A |
T |
7: 30,665,437 (GRCm39) |
D172E |
possibly damaging |
Het |
Macf1 |
T |
C |
4: 123,420,702 (GRCm39) |
E184G |
probably benign |
Het |
Map2 |
T |
A |
1: 66,455,570 (GRCm39) |
D1421E |
probably benign |
Het |
Map3k4 |
A |
T |
17: 12,490,030 (GRCm39) |
L467H |
possibly damaging |
Het |
Mogat1 |
T |
C |
1: 78,499,502 (GRCm39) |
|
probably null |
Het |
Mxra8 |
A |
G |
4: 155,927,367 (GRCm39) |
D384G |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,762,321 (GRCm39) |
T1214A |
|
Het |
Naip1 |
T |
C |
13: 100,563,506 (GRCm39) |
Y553C |
probably damaging |
Het |
Nln |
A |
T |
13: 104,189,137 (GRCm39) |
I278K |
probably benign |
Het |
Nsmaf |
T |
A |
4: 6,435,109 (GRCm39) |
|
probably null |
Het |
Nynrin |
A |
G |
14: 56,102,553 (GRCm39) |
R741G |
probably damaging |
Het |
Or4p8 |
A |
G |
2: 88,727,305 (GRCm39) |
V212A |
possibly damaging |
Het |
Or52e19b |
A |
G |
7: 103,032,783 (GRCm39) |
V142A |
probably benign |
Het |
Or5d38 |
C |
T |
2: 87,955,330 (GRCm39) |
|
probably benign |
Het |
Or8j3 |
G |
T |
2: 86,028,516 (GRCm39) |
Y193* |
probably null |
Het |
Orc1 |
A |
G |
4: 108,462,744 (GRCm39) |
H607R |
probably benign |
Het |
Pate2 |
A |
T |
9: 35,581,829 (GRCm39) |
Y41F |
probably damaging |
Het |
Pcdhb20 |
A |
T |
18: 37,638,112 (GRCm39) |
T213S |
possibly damaging |
Het |
Pcm1 |
G |
A |
8: 41,780,621 (GRCm39) |
E1858K |
possibly damaging |
Het |
Pla2g2d |
A |
G |
4: 138,506,089 (GRCm39) |
T59A |
probably damaging |
Het |
Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
Prl2c2 |
A |
G |
13: 13,179,907 (GRCm39) |
L2P |
probably benign |
Het |
Proz |
G |
A |
8: 13,113,406 (GRCm39) |
V76I |
probably benign |
Het |
Prr36 |
A |
G |
8: 4,260,953 (GRCm39) |
S955P |
probably benign |
Het |
Pter |
T |
C |
2: 12,983,352 (GRCm39) |
V119A |
probably damaging |
Het |
Qrich1 |
T |
A |
9: 108,433,567 (GRCm39) |
|
probably null |
Het |
Rbm15b |
T |
C |
9: 106,763,088 (GRCm39) |
E360G |
probably damaging |
Het |
Skint11 |
G |
A |
4: 114,101,968 (GRCm39) |
C327Y |
possibly damaging |
Het |
Spag17 |
T |
A |
3: 99,961,174 (GRCm39) |
S987T |
probably benign |
Het |
Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
Tbx1 |
T |
C |
16: 18,405,365 (GRCm39) |
S100G |
unknown |
Het |
Tiam2 |
C |
T |
17: 3,568,399 (GRCm39) |
S1515L |
possibly damaging |
Het |
Togaram1 |
C |
A |
12: 65,013,233 (GRCm39) |
D161E |
probably damaging |
Het |
Trhde |
A |
T |
10: 114,532,003 (GRCm39) |
S366T |
possibly damaging |
Het |
Ttc12 |
A |
G |
9: 49,349,724 (GRCm39) |
I691T |
possibly damaging |
Het |
Ube4a |
A |
G |
9: 44,861,025 (GRCm39) |
|
probably null |
Het |
Uggt2 |
A |
T |
14: 119,235,516 (GRCm39) |
I1453N |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,058,313 (GRCm39) |
S972P |
probably damaging |
Het |
Wdr20 |
G |
A |
12: 110,704,649 (GRCm39) |
D63N |
probably benign |
Het |
Wls |
T |
A |
3: 159,578,816 (GRCm39) |
I126N |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,355,289 (GRCm39) |
D3350G |
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 |
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 |
|
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'- TCCCAGTTTCCCAGGATGAAAG -3'
(R):5'- GTGAAGTGGCCTGTTTACCTC -3'
Sequencing Primer
(F):5'- TTTCCCAGGATGAAAGAGGTTG -3'
(R):5'- AGGCTACAGTGACCCTGCTTTG -3'
|
Posted On |
2019-12-20 |