Incidental Mutation 'R1791:Cfap57'
| ID |
201703 |
| 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 |
039821-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1791 (G1)
|
| Quality Score |
205 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118411748-118477974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118428921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 1015
(T1015M)
|
| 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: T1015M
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: T1015M
| 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: T1015M
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: T1015M
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.6%
|
| Validation Efficiency |
95% (104/110) |
| 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: 104 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
| Adrm1b |
T |
A |
3: 92,335,538 (GRCm39) |
D388V |
probably damaging |
Het |
| Akap13 |
T |
G |
7: 75,260,783 (GRCm39) |
C333G |
probably benign |
Het |
| Akap6 |
T |
C |
12: 53,115,908 (GRCm39) |
S1004P |
probably damaging |
Het |
| Akap7 |
T |
C |
10: 25,115,583 (GRCm39) |
T181A |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,545,305 (GRCm39) |
E186G |
possibly damaging |
Het |
| Arhgap17 |
T |
C |
7: 122,885,925 (GRCm39) |
T736A |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,113,720 (GRCm39) |
D1297E |
probably damaging |
Het |
| Bmp8a |
G |
T |
4: 123,218,378 (GRCm39) |
R214S |
possibly damaging |
Het |
| Cacna1f |
T |
C |
X: 7,486,678 (GRCm39) |
S890P |
probably damaging |
Het |
| Cd96 |
A |
T |
16: 45,938,362 (GRCm39) |
Y34* |
probably null |
Het |
| Cdc42ep4 |
A |
G |
11: 113,620,163 (GRCm39) |
L76P |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,227,505 (GRCm39) |
V1195A |
possibly damaging |
Het |
| Chrm3 |
C |
A |
13: 9,927,452 (GRCm39) |
G528V |
probably damaging |
Het |
| Cimap1c |
A |
T |
9: 56,759,027 (GRCm39) |
F43I |
possibly damaging |
Het |
| Clip4 |
T |
C |
17: 72,108,937 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
A |
T |
1: 24,224,386 (GRCm39) |
R189S |
unknown |
Het |
| Cul4b |
A |
T |
X: 37,636,728 (GRCm39) |
I481N |
probably damaging |
Het |
| Cyp26b1 |
A |
G |
6: 84,561,441 (GRCm39) |
S74P |
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,307,820 (GRCm39) |
N192S |
probably benign |
Het |
| Dcbld1 |
A |
G |
10: 52,195,572 (GRCm39) |
D260G |
probably damaging |
Het |
| Dhrs7 |
T |
C |
12: 72,699,939 (GRCm39) |
N231S |
probably benign |
Het |
| Disp3 |
G |
A |
4: 148,325,975 (GRCm39) |
P1261L |
probably damaging |
Het |
| Dnaaf4 |
T |
C |
9: 72,867,966 (GRCm39) |
Y76H |
possibly damaging |
Het |
| Eml5 |
C |
A |
12: 98,853,315 (GRCm39) |
V95F |
probably benign |
Het |
| Emsy |
A |
G |
7: 98,297,087 (GRCm39) |
I32T |
probably damaging |
Het |
| Esr1 |
A |
G |
10: 4,733,913 (GRCm39) |
R238G |
probably damaging |
Het |
| Exosc1 |
T |
C |
19: 41,916,524 (GRCm39) |
K84R |
probably benign |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,589 (GRCm39) |
V224E |
probably benign |
Het |
| Fam228a |
T |
A |
12: 4,782,748 (GRCm39) |
N115I |
probably damaging |
Het |
| Farp1 |
T |
C |
14: 121,494,157 (GRCm39) |
I546T |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,165,531 (GRCm39) |
C84* |
probably null |
Het |
| Fbxw17 |
A |
G |
13: 50,579,810 (GRCm39) |
|
probably benign |
Het |
| Foxo4 |
G |
C |
X: 100,302,069 (GRCm39) |
R192P |
probably benign |
Het |
| Galnt7 |
G |
T |
8: 57,995,564 (GRCm39) |
T377K |
probably benign |
Het |
| Garnl3 |
T |
C |
2: 32,924,139 (GRCm39) |
I248V |
probably benign |
Het |
| Glod4 |
A |
G |
11: 76,128,534 (GRCm39) |
Y104H |
probably damaging |
Het |
| Glrb |
T |
C |
3: 80,767,482 (GRCm39) |
Y246C |
probably damaging |
Het |
| Gm5292 |
A |
G |
5: 44,101,752 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5424 |
C |
A |
10: 61,908,086 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7276 |
C |
T |
18: 77,273,431 (GRCm39) |
|
probably benign |
Het |
| Golga5 |
A |
G |
12: 102,458,390 (GRCm39) |
N611S |
possibly damaging |
Het |
| Gucy2c |
A |
C |
6: 136,721,025 (GRCm39) |
Y391D |
probably damaging |
Het |
| H6pd |
A |
G |
4: 150,066,130 (GRCm39) |
I760T |
probably damaging |
Het |
| Hapln2 |
T |
A |
3: 87,931,712 (GRCm39) |
I5F |
possibly damaging |
Het |
| Hdac11 |
G |
T |
6: 91,145,806 (GRCm39) |
V169L |
probably benign |
Het |
| Hectd2 |
T |
C |
19: 36,586,816 (GRCm39) |
V557A |
possibly damaging |
Het |
| Huwe1 |
T |
A |
X: 150,647,749 (GRCm39) |
N747K |
probably benign |
Het |
| Ints1 |
A |
G |
5: 139,760,277 (GRCm39) |
S66P |
probably benign |
Het |
| Ipo7 |
A |
G |
7: 109,626,339 (GRCm39) |
D49G |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,346 (GRCm39) |
C575Y |
probably damaging |
Het |
| Klhl3 |
A |
G |
13: 58,181,044 (GRCm39) |
V250A |
possibly damaging |
Het |
| Klk1b24 |
A |
G |
7: 43,839,852 (GRCm39) |
|
probably null |
Het |
| Map3k11 |
T |
A |
19: 5,745,600 (GRCm39) |
Y333* |
probably null |
Het |
| Mbp |
A |
G |
18: 82,572,474 (GRCm39) |
T57A |
probably benign |
Het |
| Myh9 |
A |
G |
15: 77,657,464 (GRCm39) |
|
probably benign |
Het |
| Mypn |
C |
T |
10: 62,961,472 (GRCm39) |
R1040Q |
probably damaging |
Het |
| Ncdn |
A |
G |
4: 126,645,732 (GRCm39) |
|
probably null |
Het |
| Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
| Or10ab5 |
T |
A |
7: 108,245,571 (GRCm39) |
T71S |
probably benign |
Het |
| Or11h4 |
AGGGATTGGG |
AGGGATTGGGATTGGG |
14: 50,974,144 (GRCm39) |
|
probably benign |
Het |
| Or4k15c |
A |
G |
14: 50,321,499 (GRCm39) |
F213S |
probably benign |
Het |
| Or51b6b |
T |
C |
7: 103,310,005 (GRCm39) |
|
probably null |
Het |
| Or51f1 |
G |
A |
7: 102,505,569 (GRCm39) |
Q307* |
probably null |
Het |
| Or8d2 |
T |
A |
9: 38,759,901 (GRCm39) |
S164T |
possibly damaging |
Het |
| Pbx3 |
T |
C |
2: 34,114,464 (GRCm39) |
T82A |
possibly damaging |
Het |
| Pi15 |
T |
C |
1: 17,672,945 (GRCm39) |
F48S |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,655,376 (GRCm39) |
|
probably benign |
Het |
| Ppard |
C |
G |
17: 28,505,348 (GRCm39) |
R12G |
unknown |
Het |
| Prrc2c |
G |
T |
1: 162,532,551 (GRCm39) |
|
probably benign |
Het |
| Prune1 |
A |
G |
3: 95,175,553 (GRCm39) |
Y41H |
possibly damaging |
Het |
| Rcsd1 |
T |
C |
1: 165,483,541 (GRCm39) |
D150G |
probably damaging |
Het |
| Rgs12 |
A |
T |
5: 35,123,456 (GRCm39) |
Q413L |
possibly damaging |
Het |
| Rhox2h |
A |
G |
X: 36,850,848 (GRCm39) |
Y185H |
probably damaging |
Het |
| Rnf17 |
T |
A |
14: 56,741,464 (GRCm39) |
C1306* |
probably null |
Het |
| Ros1 |
T |
A |
10: 51,976,183 (GRCm39) |
M1499L |
probably benign |
Het |
| Rubcnl |
T |
C |
14: 75,284,989 (GRCm39) |
S503P |
probably damaging |
Het |
| Sap18b |
A |
T |
8: 96,552,342 (GRCm39) |
R117S |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,964,336 (GRCm39) |
E858G |
probably damaging |
Het |
| Shtn1 |
T |
C |
19: 59,020,632 (GRCm39) |
R197G |
probably damaging |
Het |
| Slamf8 |
G |
A |
1: 172,412,087 (GRCm39) |
R163* |
probably null |
Het |
| Slc6a3 |
T |
C |
13: 73,714,411 (GRCm39) |
I392T |
possibly damaging |
Het |
| Sp140 |
C |
T |
1: 85,547,772 (GRCm39) |
|
probably benign |
Het |
| Sp8 |
T |
C |
12: 118,812,751 (GRCm39) |
V202A |
possibly damaging |
Het |
| Spata13 |
T |
C |
14: 60,946,908 (GRCm39) |
V652A |
probably damaging |
Het |
| Stpg2 |
A |
T |
3: 139,023,162 (GRCm39) |
T393S |
probably benign |
Het |
| Tagap |
T |
C |
17: 8,150,299 (GRCm39) |
M228T |
probably damaging |
Het |
| Tagap |
A |
G |
17: 8,152,377 (GRCm39) |
T521A |
probably benign |
Het |
| Tas2r123 |
T |
G |
6: 132,824,528 (GRCm39) |
S142A |
probably damaging |
Het |
| Tat |
T |
A |
8: 110,718,261 (GRCm39) |
S49T |
probably benign |
Het |
| Tfap4 |
G |
T |
16: 4,369,933 (GRCm39) |
Q41K |
possibly damaging |
Het |
| Thbs2 |
T |
C |
17: 14,906,075 (GRCm39) |
N275S |
probably benign |
Het |
| Tnfsf14 |
T |
A |
17: 57,497,867 (GRCm39) |
R122W |
probably damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,792,140 (GRCm39) |
V1886A |
possibly damaging |
Het |
| Trim56 |
G |
A |
5: 137,143,252 (GRCm39) |
A88V |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,841,842 (GRCm39) |
Y1081H |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
| Ube2o |
G |
A |
11: 116,432,320 (GRCm39) |
T882I |
probably benign |
Het |
| Upk3a |
A |
G |
15: 84,904,815 (GRCm39) |
T188A |
possibly damaging |
Het |
| Vmn1r79 |
A |
C |
7: 11,910,358 (GRCm39) |
D80A |
probably damaging |
Het |
| Wls |
C |
A |
3: 159,617,450 (GRCm39) |
T375K |
probably benign |
Het |
| Wnt5a |
T |
C |
14: 28,233,835 (GRCm39) |
M1T |
probably null |
Het |
| Zcchc4 |
A |
G |
5: 52,953,932 (GRCm39) |
E204G |
probably damaging |
Het |
| Zfp513 |
G |
A |
5: 31,357,678 (GRCm39) |
P232S |
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 |
|
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 |
|
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'- ACATTTGTGCAAGCCTGGAAC -3'
(R):5'- AGCAGTGCTTATAGGAGGGC -3'
Sequencing Primer
(F):5'- GTGCAAGCCTGGAACCAGAC -3'
(R):5'- CAAGTGTCAAGGAGCAAGGTCTC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation