Incidental Mutation 'R1709:Cfap57'
| ID |
190295 |
| 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 |
039742-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1709 (G1)
|
| Quality Score |
127 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118411748-118477974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118428901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1022
(T1022A)
|
| 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: T1022A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: T1022A
| 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: T1022A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: T1022A
| 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: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
A |
G |
5: 125,566,942 (GRCm39) |
K152E |
probably benign |
Het |
| Adgrd1 |
T |
C |
5: 129,256,292 (GRCm39) |
V641A |
possibly damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,741,179 (GRCm39) |
V95E |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,063,585 (GRCm39) |
C872Y |
probably damaging |
Het |
| Aldh1a7 |
G |
T |
19: 20,693,316 (GRCm39) |
T201K |
probably damaging |
Het |
| Aox1 |
C |
T |
1: 58,116,633 (GRCm39) |
A788V |
probably benign |
Het |
| Apob |
T |
C |
12: 8,059,306 (GRCm39) |
V2563A |
probably damaging |
Het |
| Atcay |
G |
A |
10: 81,049,065 (GRCm39) |
T179I |
probably damaging |
Het |
| Atf5 |
A |
T |
7: 44,462,707 (GRCm39) |
L139Q |
probably benign |
Het |
| Atp13a3 |
T |
C |
16: 30,134,659 (GRCm39) |
T1205A |
probably benign |
Het |
| Atr |
C |
T |
9: 95,753,129 (GRCm39) |
T656I |
probably benign |
Het |
| Bloc1s3 |
T |
C |
7: 19,241,453 (GRCm39) |
E25G |
possibly damaging |
Het |
| Brap |
T |
C |
5: 121,803,353 (GRCm39) |
|
probably null |
Het |
| C6 |
G |
T |
15: 4,820,452 (GRCm39) |
A488S |
probably benign |
Het |
| Ccin |
T |
C |
4: 43,984,133 (GRCm39) |
F180S |
probably damaging |
Het |
| Cd207 |
T |
C |
6: 83,649,818 (GRCm39) |
I256V |
possibly damaging |
Het |
| Cdc42bpa |
G |
T |
1: 179,894,789 (GRCm39) |
C323F |
probably damaging |
Het |
| Cmtr2 |
A |
T |
8: 110,948,581 (GRCm39) |
Q297L |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,452,305 (GRCm39) |
|
probably null |
Het |
| Cpsf2 |
T |
A |
12: 101,965,801 (GRCm39) |
Y589N |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,661,563 (GRCm39) |
Y408C |
probably damaging |
Het |
| Crocc |
A |
G |
4: 140,753,410 (GRCm39) |
|
probably null |
Het |
| Cryzl1 |
A |
C |
16: 91,509,124 (GRCm39) |
F59C |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,389,988 (GRCm39) |
V2241A |
probably damaging |
Het |
| Cxcl15 |
C |
A |
5: 90,949,275 (GRCm39) |
H147N |
unknown |
Het |
| Dennd4a |
A |
G |
9: 64,796,887 (GRCm39) |
T860A |
possibly damaging |
Het |
| Dnah10 |
C |
T |
5: 124,837,155 (GRCm39) |
P966L |
probably damaging |
Het |
| Dpp9 |
T |
A |
17: 56,501,431 (GRCm39) |
M594L |
probably benign |
Het |
| Dspp |
C |
A |
5: 104,323,590 (GRCm39) |
N244K |
probably damaging |
Het |
| Efcab8 |
T |
A |
2: 153,656,290 (GRCm39) |
|
probably null |
Het |
| Elapor2 |
C |
T |
5: 9,490,726 (GRCm39) |
R579* |
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fbxw17 |
A |
G |
13: 50,585,693 (GRCm39) |
M299V |
probably benign |
Het |
| Fbxw7 |
T |
A |
3: 84,883,659 (GRCm39) |
I530N |
probably damaging |
Het |
| Gp2 |
C |
A |
7: 119,050,808 (GRCm39) |
D308Y |
probably null |
Het |
| Gpd2 |
G |
A |
2: 57,247,667 (GRCm39) |
V537M |
probably damaging |
Het |
| Gpr18 |
T |
A |
14: 122,149,404 (GRCm39) |
Y207F |
probably damaging |
Het |
| Grip1 |
A |
T |
10: 119,733,620 (GRCm39) |
D20V |
probably damaging |
Het |
| Gzmf |
A |
C |
14: 56,444,397 (GRCm39) |
F59V |
probably damaging |
Het |
| H3c1 |
T |
A |
13: 23,945,964 (GRCm39) |
I125F |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,883,311 (GRCm39) |
I2732V |
probably benign |
Het |
| Ipo8 |
A |
T |
6: 148,684,226 (GRCm39) |
D855E |
probably benign |
Het |
| Klrk1 |
A |
T |
6: 129,591,682 (GRCm39) |
|
probably null |
Het |
| Megf11 |
A |
G |
9: 64,602,694 (GRCm39) |
Y876C |
probably damaging |
Het |
| Mettl8 |
G |
T |
2: 70,812,495 (GRCm39) |
Q12K |
probably benign |
Het |
| Mrgprf |
T |
C |
7: 144,861,954 (GRCm39) |
F172S |
probably benign |
Het |
| Mycbp2 |
G |
A |
14: 103,461,852 (GRCm39) |
T1432I |
probably damaging |
Het |
| Nek11 |
A |
C |
9: 105,225,260 (GRCm39) |
L84R |
probably damaging |
Het |
| Nlrp1b |
T |
C |
11: 71,092,099 (GRCm39) |
E9G |
probably benign |
Het |
| Nrxn1 |
T |
C |
17: 90,344,615 (GRCm39) |
I433V |
probably damaging |
Het |
| Nup153 |
A |
G |
13: 46,847,450 (GRCm39) |
C660R |
probably damaging |
Het |
| Or1o11 |
T |
A |
17: 37,757,091 (GRCm39) |
Y226* |
probably null |
Het |
| Or2a25 |
T |
C |
6: 42,889,078 (GRCm39) |
V207A |
possibly damaging |
Het |
| Or4z4 |
G |
T |
19: 12,076,245 (GRCm39) |
P253T |
probably damaging |
Het |
| Or5h26 |
T |
A |
16: 58,988,264 (GRCm39) |
M81L |
probably benign |
Het |
| P2rx7 |
T |
A |
5: 122,808,528 (GRCm39) |
N303K |
possibly damaging |
Het |
| Pank4 |
T |
C |
4: 155,054,504 (GRCm39) |
L159P |
probably damaging |
Het |
| Pcdhb22 |
A |
T |
18: 37,651,553 (GRCm39) |
H7L |
probably benign |
Het |
| Pdzd8 |
A |
T |
19: 59,289,771 (GRCm39) |
I543N |
probably benign |
Het |
| Pramel25 |
T |
C |
4: 143,520,116 (GRCm39) |
V120A |
possibly damaging |
Het |
| Prrc2b |
C |
A |
2: 32,084,473 (GRCm39) |
R313S |
probably damaging |
Het |
| Rbm12b1 |
T |
C |
4: 12,145,827 (GRCm39) |
C600R |
probably benign |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Rfx6 |
T |
A |
10: 51,554,498 (GRCm39) |
M113K |
possibly damaging |
Het |
| Rlf |
A |
T |
4: 121,007,020 (GRCm39) |
D653E |
probably benign |
Het |
| Rnf130 |
A |
G |
11: 49,978,213 (GRCm39) |
D258G |
possibly damaging |
Het |
| Robo2 |
A |
G |
16: 73,753,411 (GRCm39) |
V822A |
possibly damaging |
Het |
| Rps6kc1 |
G |
T |
1: 190,532,533 (GRCm39) |
Q490K |
possibly damaging |
Het |
| Scn9a |
T |
C |
2: 66,313,850 (GRCm39) |
Y1945C |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,378,925 (GRCm39) |
D913E |
probably benign |
Het |
| Sfr1 |
G |
T |
19: 47,723,442 (GRCm39) |
E315D |
possibly damaging |
Het |
| Smarca5 |
G |
A |
8: 81,435,849 (GRCm39) |
R763* |
probably null |
Het |
| Sugct |
A |
C |
13: 17,847,151 (GRCm39) |
I44S |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 114,380,662 (GRCm39) |
|
probably null |
Het |
| Tbc1d8b |
A |
G |
X: 138,634,829 (GRCm39) |
I654V |
probably benign |
Het |
| Tcf23 |
T |
A |
5: 31,130,852 (GRCm39) |
Y163* |
probably null |
Het |
| Terf2ip |
TG |
T |
8: 112,738,238 (GRCm39) |
|
probably null |
Het |
| Tmem158 |
T |
C |
9: 123,088,950 (GRCm39) |
S221G |
possibly damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,769,205 (GRCm39) |
T332A |
probably benign |
Het |
| Trappc4 |
T |
C |
9: 44,318,508 (GRCm39) |
T31A |
probably benign |
Het |
| Trim27 |
T |
C |
13: 21,372,235 (GRCm39) |
|
probably null |
Het |
| Ttyh2 |
T |
A |
11: 114,599,301 (GRCm39) |
L330Q |
probably damaging |
Het |
| Tubgcp3 |
A |
T |
8: 12,689,532 (GRCm39) |
L578* |
probably null |
Het |
| Txndc11 |
C |
A |
16: 10,946,565 (GRCm39) |
E83* |
probably null |
Het |
| Utp20 |
T |
C |
10: 88,585,159 (GRCm39) |
K2635R |
probably benign |
Het |
| V1ra8 |
C |
T |
6: 90,180,304 (GRCm39) |
T169I |
probably damaging |
Het |
| Vcl |
G |
A |
14: 21,069,441 (GRCm39) |
V706I |
probably benign |
Het |
| Vmn2r106 |
A |
T |
17: 20,499,373 (GRCm39) |
D179E |
probably benign |
Het |
| Vmn2r80 |
T |
C |
10: 79,030,223 (GRCm39) |
M683T |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,340,215 (GRCm39) |
I819V |
probably benign |
Het |
| Zfp735 |
T |
C |
11: 73,602,589 (GRCm39) |
F511S |
probably benign |
Het |
| Zfp831 |
T |
C |
2: 174,487,683 (GRCm39) |
V786A |
probably benign |
Het |
| Zfp992 |
T |
A |
4: 146,550,949 (GRCm39) |
H223Q |
probably benign |
Het |
| Zfyve19 |
A |
C |
2: 119,041,300 (GRCm39) |
Q72P |
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 |
|
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 |
|
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'- TCTCCAGGTCAAACAGAGCCAAGG -3'
(R):5'- CAAGTGTCAAGGAGCAAGGTCTCAC -3'
Sequencing Primer
(F):5'- ccctctcctccctccctc -3'
(R):5'- GGTCTCACTCCCAACACATCG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation