Incidental Mutation 'R1719:Cfap57'
| ID |
191264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap57
|
| Ensembl Gene |
ENSMUSG00000028730 |
| Gene Name |
cilia and flagella associated protein 57 |
| Synonyms |
LOC384050, Wdr65, 1110020C03Rik, C130004B06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1719 (G1)
|
| Quality Score |
194 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118411748-118477974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118463828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 342
(C342S)
|
| 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: C342S
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: C342S
| 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: C342S
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: C342S
| 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: 96.2%
- 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
A |
T |
19: 31,904,526 (GRCm39) |
K263M |
probably damaging |
Het |
| Adam26a |
G |
A |
8: 44,023,073 (GRCm39) |
T139M |
possibly damaging |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Akap9 |
C |
T |
5: 4,007,645 (GRCm39) |
Q238* |
probably null |
Het |
| Ankrd6 |
A |
T |
4: 32,828,774 (GRCm39) |
V85E |
probably damaging |
Het |
| Ap2b1 |
C |
A |
11: 83,215,430 (GRCm39) |
P125T |
probably damaging |
Het |
| Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
| Cblc |
A |
T |
7: 19,524,399 (GRCm39) |
D280E |
probably benign |
Het |
| Cdk11b |
T |
C |
4: 155,732,854 (GRCm39) |
|
probably benign |
Het |
| Cela2a |
G |
T |
4: 141,545,257 (GRCm39) |
F239L |
probably damaging |
Het |
| Clca4a |
C |
A |
3: 144,669,516 (GRCm39) |
W345L |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,808,492 (GRCm39) |
D852G |
unknown |
Het |
| Cyp4a32 |
T |
C |
4: 115,468,505 (GRCm39) |
V329A |
possibly damaging |
Het |
| Dcaf8 |
C |
T |
1: 172,003,062 (GRCm39) |
P287S |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,067,704 (GRCm39) |
D2654E |
probably damaging |
Het |
| Dpep1 |
A |
T |
8: 123,927,486 (GRCm39) |
I347F |
possibly damaging |
Het |
| Dtnb |
T |
A |
12: 3,693,936 (GRCm39) |
Y56* |
probably null |
Het |
| Duox1 |
T |
C |
2: 122,169,125 (GRCm39) |
Y1182H |
possibly damaging |
Het |
| Dusp10 |
T |
A |
1: 183,769,422 (GRCm39) |
S129R |
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,219,532 (GRCm39) |
I137V |
probably benign |
Het |
| Epcam |
G |
A |
17: 87,949,556 (GRCm39) |
R173Q |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,039,400 (GRCm39) |
E384G |
probably damaging |
Het |
| Exosc10 |
A |
T |
4: 148,652,960 (GRCm39) |
D525V |
probably damaging |
Het |
| Fam186a |
T |
A |
15: 99,840,227 (GRCm39) |
T2006S |
possibly damaging |
Het |
| Fbxw21 |
T |
A |
9: 108,977,242 (GRCm39) |
T156S |
possibly damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,364,704 (GRCm39) |
E568G |
probably damaging |
Het |
| Fmn2 |
C |
T |
1: 174,436,024 (GRCm39) |
|
probably benign |
Het |
| Fut9 |
A |
G |
4: 25,619,744 (GRCm39) |
F357L |
possibly damaging |
Het |
| Garre1 |
A |
T |
7: 33,947,631 (GRCm39) |
M459K |
probably damaging |
Het |
| Gas2l1 |
G |
A |
11: 5,014,266 (GRCm39) |
H65Y |
probably damaging |
Het |
| Gjd2 |
A |
T |
2: 113,843,614 (GRCm39) |
M1K |
probably null |
Het |
| Hdgfl3 |
T |
C |
7: 81,549,432 (GRCm39) |
Y149C |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,244,733 (GRCm39) |
V730A |
probably damaging |
Het |
| Inpp4a |
A |
T |
1: 37,437,880 (GRCm39) |
S223C |
probably damaging |
Het |
| Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
| Knl1 |
T |
A |
2: 118,902,219 (GRCm39) |
W1307R |
probably benign |
Het |
| Kpna3 |
A |
G |
14: 61,624,926 (GRCm39) |
L139P |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,612,929 (GRCm39) |
|
probably null |
Het |
| Lin54 |
G |
A |
5: 100,633,108 (GRCm39) |
P192L |
possibly damaging |
Het |
| Lpo |
T |
A |
11: 87,700,018 (GRCm39) |
|
probably null |
Het |
| Lrrc37 |
T |
A |
11: 103,507,897 (GRCm39) |
|
probably benign |
Het |
| Lrrd1 |
T |
G |
5: 3,900,483 (GRCm39) |
|
probably null |
Het |
| Nbas |
T |
A |
12: 13,610,978 (GRCm39) |
|
probably null |
Het |
| Nemp1 |
G |
A |
10: 127,532,117 (GRCm39) |
G341D |
probably damaging |
Het |
| Nrp1 |
T |
C |
8: 129,152,366 (GRCm39) |
F192L |
probably damaging |
Het |
| Nufip2 |
T |
A |
11: 77,583,916 (GRCm39) |
V610E |
probably damaging |
Het |
| Nup160 |
T |
G |
2: 90,530,780 (GRCm39) |
Y479* |
probably null |
Het |
| Oas1d |
A |
T |
5: 121,058,025 (GRCm39) |
D323V |
possibly damaging |
Het |
| Or10ak14 |
A |
G |
4: 118,610,797 (GRCm39) |
W315R |
possibly damaging |
Het |
| Or14j1 |
A |
G |
17: 38,146,244 (GRCm39) |
D118G |
possibly damaging |
Het |
| Or4c3d |
T |
C |
2: 89,882,128 (GRCm39) |
Y180C |
probably damaging |
Het |
| Or52e4 |
C |
A |
7: 104,706,001 (GRCm39) |
H183N |
probably damaging |
Het |
| Or5ac22 |
T |
A |
16: 59,135,069 (GRCm39) |
R234* |
probably null |
Het |
| Or8b3 |
G |
A |
9: 38,314,550 (GRCm39) |
V127M |
possibly damaging |
Het |
| Or8c9 |
A |
T |
9: 38,241,803 (GRCm39) |
T307S |
probably benign |
Het |
| Pcm1 |
T |
A |
8: 41,766,396 (GRCm39) |
M1567K |
possibly damaging |
Het |
| Pdxk |
A |
G |
10: 78,279,730 (GRCm39) |
V215A |
probably benign |
Het |
| Phf12 |
T |
A |
11: 77,914,427 (GRCm39) |
L74Q |
probably damaging |
Het |
| Plcg1 |
A |
G |
2: 160,595,663 (GRCm39) |
E537G |
probably null |
Het |
| Plxna2 |
C |
T |
1: 194,326,678 (GRCm39) |
P204L |
possibly damaging |
Het |
| Ppp3cb |
T |
G |
14: 20,574,131 (GRCm39) |
M236L |
probably benign |
Het |
| Qrsl1 |
A |
T |
10: 43,772,026 (GRCm39) |
S55T |
probably damaging |
Het |
| Rbm5 |
T |
C |
9: 107,621,112 (GRCm39) |
|
probably null |
Het |
| Sipa1l2 |
A |
G |
8: 126,171,274 (GRCm39) |
S1403P |
probably damaging |
Het |
| Sis |
C |
T |
3: 72,872,937 (GRCm39) |
C67Y |
probably damaging |
Het |
| Specc1 |
A |
G |
11: 62,019,218 (GRCm39) |
I686V |
possibly damaging |
Het |
| Speg |
G |
A |
1: 75,394,507 (GRCm39) |
E1739K |
probably benign |
Het |
| Sprtn |
C |
A |
8: 125,628,372 (GRCm39) |
H154Q |
probably damaging |
Het |
| St7l |
A |
G |
3: 104,778,303 (GRCm39) |
T147A |
probably benign |
Het |
| Stab1 |
G |
A |
14: 30,867,985 (GRCm39) |
Q1630* |
probably null |
Het |
| Stpg2 |
A |
G |
3: 138,937,960 (GRCm39) |
D173G |
probably benign |
Het |
| Tcf20 |
G |
A |
15: 82,736,978 (GRCm39) |
T1491I |
probably benign |
Het |
| Themis2 |
A |
T |
4: 132,516,960 (GRCm39) |
I180N |
possibly damaging |
Het |
| Timd5 |
T |
C |
11: 46,417,121 (GRCm39) |
L13P |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,638,340 (GRCm39) |
V13980A |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,575,978 (GRCm39) |
V24972M |
probably damaging |
Het |
| Usp5 |
A |
T |
6: 124,800,423 (GRCm39) |
M286K |
possibly damaging |
Het |
| Vmn2r22 |
G |
A |
6: 123,614,802 (GRCm39) |
R263C |
possibly damaging |
Het |
| Vmn2r71 |
T |
G |
7: 85,270,435 (GRCm39) |
C534G |
probably damaging |
Het |
| Wnk2 |
C |
T |
13: 49,214,202 (GRCm39) |
S1460N |
possibly damaging |
Het |
| Zfp445 |
G |
A |
9: 122,681,707 (GRCm39) |
P745S |
probably damaging |
Het |
| Zfp957 |
C |
T |
14: 79,451,436 (GRCm39) |
G121D |
probably damaging |
Het |
| Zscan4f |
A |
G |
7: 11,135,254 (GRCm39) |
E220G |
possibly 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 |
|
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 |
|
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'- AGATTCCGTTCCCTGAGACACCAC -3'
(R):5'- ACCCTTCAGATGCTAGTTGCTGC -3'
Sequencing Primer
(F):5'- GTACCAAGCTTTGCATGGAC -3'
(R):5'- CTAGTTGCTGCAAAAATGAGCAC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation