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 |
Wdr65, 1110020C03Rik, C130004B06Rik, LOC384050 |
| 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 |
118554551-118620777 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 118595848 bp (GRCm38)
|
| 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: 16,068,798 (GRCm38) |
|
probably null |
Het |
| Abca4 |
T |
A |
3: 122,105,370 (GRCm38) |
V667D |
probably damaging |
Het |
| Aco1 |
A |
G |
4: 40,176,507 (GRCm38) |
I224V |
probably damaging |
Het |
| Arel1 |
C |
T |
12: 84,931,767 (GRCm38) |
V364M |
probably damaging |
Het |
| Arhgap42 |
A |
G |
9: 9,009,434 (GRCm38) |
V484A |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,252,765 (GRCm38) |
F681L |
probably benign |
Het |
| Atrn |
C |
A |
2: 130,975,954 (GRCm38) |
D809E |
probably damaging |
Het |
| BC037034 |
T |
A |
5: 138,261,622 (GRCm38) |
T391S |
probably damaging |
Het |
| Ccdc70 |
G |
A |
8: 21,973,250 (GRCm38) |
V19M |
possibly damaging |
Het |
| Ccp110 |
G |
T |
7: 118,730,012 (GRCm38) |
E73* |
probably null |
Het |
| Cftr |
A |
G |
6: 18,221,614 (GRCm38) |
K212E |
probably benign |
Het |
| Chkb |
A |
T |
15: 89,428,165 (GRCm38) |
Y216N |
probably damaging |
Het |
| Cntnap2 |
G |
T |
6: 45,920,834 (GRCm38) |
D149Y |
probably damaging |
Het |
| Cpd |
A |
G |
11: 76,846,222 (GRCm38) |
|
probably null |
Het |
| Creb3l1 |
C |
T |
2: 91,983,226 (GRCm38) |
D489N |
probably benign |
Het |
| Crhbp |
A |
G |
13: 95,442,245 (GRCm38) |
F123L |
probably damaging |
Het |
| Cryab |
T |
C |
9: 50,754,609 (GRCm38) |
V100A |
possibly damaging |
Het |
| Csmd2 |
T |
C |
4: 128,521,930 (GRCm38) |
I2684T |
probably benign |
Het |
| Ctbp2 |
G |
T |
7: 133,014,649 (GRCm38) |
P186T |
possibly damaging |
Het |
| Ctnna2 |
T |
C |
6: 76,915,762 (GRCm38) |
N814S |
possibly damaging |
Het |
| Dntt |
T |
C |
19: 41,039,856 (GRCm38) |
V197A |
probably damaging |
Het |
| Fam135a |
G |
A |
1: 24,020,677 (GRCm38) |
A1187V |
possibly damaging |
Het |
| Filip1l |
A |
T |
16: 57,570,415 (GRCm38) |
Q455H |
probably benign |
Het |
| Grm2 |
T |
C |
9: 106,653,990 (GRCm38) |
E100G |
probably damaging |
Het |
| Gtf2ird2 |
G |
A |
5: 134,217,464 (GRCm38) |
V855M |
probably damaging |
Het |
| Heatr9 |
A |
T |
11: 83,518,792 (GRCm38) |
I118N |
possibly damaging |
Het |
| Htra3 |
T |
C |
5: 35,671,125 (GRCm38) |
H137R |
probably benign |
Het |
| Iars |
A |
G |
13: 49,709,661 (GRCm38) |
S530G |
probably damaging |
Het |
| Klhdc4 |
T |
A |
8: 121,796,603 (GRCm38) |
M510L |
probably benign |
Het |
| Lipc |
T |
C |
9: 70,816,731 (GRCm38) |
T204A |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,553,779 (GRCm38) |
V3129A |
probably damaging |
Het |
| Macf1 |
G |
A |
4: 123,494,909 (GRCm38) |
T1120I |
probably benign |
Het |
| Map4 |
T |
C |
9: 110,038,377 (GRCm38) |
|
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 119,533,348 (GRCm38) |
V420D |
probably damaging |
Het |
| Mta2 |
G |
T |
19: 8,950,383 (GRCm38) |
D523Y |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,756,296 (GRCm38) |
|
probably benign |
Het |
| Mug1 |
C |
T |
6: 121,878,943 (GRCm38) |
Q965* |
probably null |
Het |
| Myo1e |
T |
A |
9: 70,353,312 (GRCm38) |
I584N |
probably damaging |
Het |
| Nolc1 |
T |
C |
19: 46,078,920 (GRCm38) |
V80A |
probably damaging |
Het |
| Nop56 |
G |
T |
2: 130,275,725 (GRCm38) |
V91L |
probably benign |
Het |
| Olfr1451 |
A |
T |
19: 12,999,219 (GRCm38) |
M78L |
probably benign |
Het |
| Olfr191 |
A |
T |
16: 59,086,402 (GRCm38) |
L27Q |
probably damaging |
Het |
| Olfr523 |
T |
C |
7: 140,177,020 (GRCm38) |
V300A |
probably damaging |
Het |
| Osbpl3 |
T |
C |
6: 50,336,297 (GRCm38) |
E107G |
probably damaging |
Het |
| Pde3a |
T |
A |
6: 141,250,025 (GRCm38) |
C146S |
probably benign |
Het |
| Pfkm |
A |
G |
15: 98,128,242 (GRCm38) |
M573V |
probably damaging |
Het |
| Pkd1l2 |
C |
T |
8: 117,047,374 (GRCm38) |
|
probably null |
Het |
| Plekhg3 |
T |
C |
12: 76,565,247 (GRCm38) |
I374T |
possibly damaging |
Het |
| Ppig |
T |
A |
2: 69,741,486 (GRCm38) |
V183D |
unknown |
Het |
| Prom1 |
T |
G |
5: 44,037,534 (GRCm38) |
I290L |
probably benign |
Het |
| Rufy3 |
T |
A |
5: 88,637,226 (GRCm38) |
M387K |
probably damaging |
Het |
| Selenoo |
G |
A |
15: 89,094,184 (GRCm38) |
R270H |
probably damaging |
Het |
| Sema3d |
T |
A |
5: 12,508,087 (GRCm38) |
|
probably null |
Het |
| Sema6c |
C |
T |
3: 95,168,363 (GRCm38) |
T175I |
probably damaging |
Het |
| Serpina3k |
T |
C |
12: 104,341,046 (GRCm38) |
I179T |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 110,841,203 (GRCm38) |
T207A |
probably benign |
Het |
| Slc22a26 |
C |
A |
19: 7,802,181 (GRCm38) |
R90L |
probably damaging |
Het |
| Slitrk5 |
T |
C |
14: 111,680,216 (GRCm38) |
V424A |
probably damaging |
Het |
| Smarca2 |
G |
T |
19: 26,720,855 (GRCm38) |
E89* |
probably null |
Het |
| Soga1 |
C |
T |
2: 157,022,856 (GRCm38) |
G1144D |
probably benign |
Het |
| Stab2 |
T |
A |
10: 86,937,909 (GRCm38) |
S853C |
probably damaging |
Het |
| Stk17b |
A |
T |
1: 53,761,147 (GRCm38) |
|
probably null |
Het |
| Taar5 |
T |
A |
10: 23,971,547 (GRCm38) |
I281N |
possibly damaging |
Het |
| Tarsl2 |
A |
T |
7: 65,658,935 (GRCm38) |
E284D |
probably damaging |
Het |
| Tbx15 |
C |
A |
3: 99,316,333 (GRCm38) |
T279K |
probably damaging |
Het |
| Tfr2 |
G |
A |
5: 137,586,925 (GRCm38) |
V740I |
probably benign |
Het |
| Tlr12 |
T |
C |
4: 128,617,680 (GRCm38) |
E259G |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,309,034 (GRCm38) |
T302A |
probably benign |
Het |
| Tmem57 |
A |
G |
4: 134,828,133 (GRCm38) |
I343T |
probably benign |
Het |
| Trpa1 |
G |
T |
1: 14,875,861 (GRCm38) |
H1015Q |
probably benign |
Het |
| Tspan8 |
A |
G |
10: 115,817,629 (GRCm38) |
Y10C |
possibly damaging |
Het |
| Ttll7 |
A |
G |
3: 146,894,469 (GRCm38) |
N44S |
probably damaging |
Het |
| Uba7 |
T |
C |
9: 107,979,839 (GRCm38) |
|
probably null |
Het |
| Ube2j2 |
G |
A |
4: 155,946,384 (GRCm38) |
M1I |
probably null |
Het |
| Ubr5 |
C |
A |
15: 38,009,668 (GRCm38) |
A1022S |
probably benign |
Het |
| Usf1 |
T |
G |
1: 171,415,763 (GRCm38) |
I36S |
probably damaging |
Het |
| Vmn1r181 |
A |
T |
7: 23,984,365 (GRCm38) |
D85V |
probably damaging |
Het |
| Vmn1r3 |
A |
T |
4: 3,185,009 (GRCm38) |
Y99* |
probably null |
Het |
| Vmn1r72 |
T |
C |
7: 11,670,373 (GRCm38) |
I49M |
possibly damaging |
Het |
| Vmn2r99 |
A |
G |
17: 19,362,135 (GRCm38) |
M1V |
probably null |
Het |
| Vsig10 |
T |
A |
5: 117,343,975 (GRCm38) |
V410E |
probably damaging |
Het |
| Zc3h7b |
A |
G |
15: 81,779,133 (GRCm38) |
Y442C |
probably damaging |
Het |
| Zfyve26 |
G |
T |
12: 79,280,385 (GRCm38) |
Y730* |
probably null |
Het |
|
| Other mutations in Cfap57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Cfap57
|
APN |
4 |
118,581,001 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00508:Cfap57
|
APN |
4 |
118,581,170 (GRCm38) |
splice site |
probably null |
|
|
IGL00857:Cfap57
|
APN |
4 |
118,612,923 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01147:Cfap57
|
APN |
4 |
118,589,001 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01396:Cfap57
|
APN |
4 |
118,610,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01420:Cfap57
|
APN |
4 |
118,612,940 (GRCm38) |
missense |
probably benign |
0.21 |
|
IGL01615:Cfap57
|
APN |
4 |
118,600,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02154:Cfap57
|
APN |
4 |
118,613,017 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02161:Cfap57
|
APN |
4 |
118,579,372 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL02481:Cfap57
|
APN |
4 |
118,581,105 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02483:Cfap57
|
APN |
4 |
118,581,105 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02503:Cfap57
|
APN |
4 |
118,569,348 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02800:Cfap57
|
APN |
4 |
118,614,750 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03083:Cfap57
|
APN |
4 |
118,584,739 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL03146:Cfap57
|
APN |
4 |
118,599,019 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03246:Cfap57
|
APN |
4 |
118,576,645 (GRCm38) |
missense |
probably benign |
0.29 |
|
IGL03376:Cfap57
|
APN |
4 |
118,584,720 (GRCm38) |
missense |
probably damaging |
0.96 |
|
G1Funyon:Cfap57
|
UTSW |
4 |
118,593,074 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0144:Cfap57
|
UTSW |
4 |
118,584,705 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0184:Cfap57
|
UTSW |
4 |
118,599,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0415:Cfap57
|
UTSW |
4 |
118,569,431 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0515:Cfap57
|
UTSW |
4 |
118,620,402 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0690:Cfap57
|
UTSW |
4 |
118,569,727 (GRCm38) |
splice site |
probably benign |
|
|
R0730:Cfap57
|
UTSW |
4 |
118,612,920 (GRCm38) |
splice site |
probably null |
|
|
R0737:Cfap57
|
UTSW |
4 |
118,581,102 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0854:Cfap57
|
UTSW |
4 |
118,561,872 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0880:Cfap57
|
UTSW |
4 |
118,581,838 (GRCm38) |
nonsense |
probably null |
|
|
R1085:Cfap57
|
UTSW |
4 |
118,595,779 (GRCm38) |
missense |
probably benign |
0.20 |
|
R1119:Cfap57
|
UTSW |
4 |
118,606,676 (GRCm38) |
nonsense |
probably null |
|
|
R1217:Cfap57
|
UTSW |
4 |
118,606,652 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R1294:Cfap57
|
UTSW |
4 |
118,606,534 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1487:Cfap57
|
UTSW |
4 |
118,614,781 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1676:Cfap57
|
UTSW |
4 |
118,595,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1688:Cfap57
|
UTSW |
4 |
118,569,646 (GRCm38) |
missense |
probably null |
0.20 |
|
R1709:Cfap57
|
UTSW |
4 |
118,571,704 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1719:Cfap57
|
UTSW |
4 |
118,606,631 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1782:Cfap57
|
UTSW |
4 |
118,614,975 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1791:Cfap57
|
UTSW |
4 |
118,571,724 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R1850:Cfap57
|
UTSW |
4 |
118,599,894 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1866:Cfap57
|
UTSW |
4 |
118,599,927 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R1912:Cfap57
|
UTSW |
4 |
118,615,010 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1978:Cfap57
|
UTSW |
4 |
118,593,132 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2177:Cfap57
|
UTSW |
4 |
118,606,688 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2322:Cfap57
|
UTSW |
4 |
118,610,725 (GRCm38) |
missense |
probably benign |
|
|
R3905:Cfap57
|
UTSW |
4 |
118,595,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4013:Cfap57
|
UTSW |
4 |
118,593,143 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4079:Cfap57
|
UTSW |
4 |
118,598,997 (GRCm38) |
missense |
probably benign |
0.34 |
|
R4962:Cfap57
|
UTSW |
4 |
118,613,065 (GRCm38) |
missense |
probably benign |
0.21 |
|
R4970:Cfap57
|
UTSW |
4 |
118,620,371 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4974:Cfap57
|
UTSW |
4 |
118,593,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5482:Cfap57
|
UTSW |
4 |
118,569,641 (GRCm38) |
missense |
probably benign |
|
|
R5522:Cfap57
|
UTSW |
4 |
118,595,888 (GRCm38) |
missense |
probably benign |
0.41 |
|
R5626:Cfap57
|
UTSW |
4 |
118,614,783 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5685:Cfap57
|
UTSW |
4 |
118,569,459 (GRCm38) |
missense |
probably benign |
|
|
R5712:Cfap57
|
UTSW |
4 |
118,614,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5961:Cfap57
|
UTSW |
4 |
118,571,745 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6244:Cfap57
|
UTSW |
4 |
118,579,410 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6268:Cfap57
|
UTSW |
4 |
118,569,451 (GRCm38) |
nonsense |
probably null |
|
|
R6271:Cfap57
|
UTSW |
4 |
118,595,759 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6330:Cfap57
|
UTSW |
4 |
118,569,396 (GRCm38) |
missense |
probably benign |
|
|
R6439:Cfap57
|
UTSW |
4 |
118,588,975 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6639:Cfap57
|
UTSW |
4 |
118,554,712 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6722:Cfap57
|
UTSW |
4 |
118,584,717 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7033:Cfap57
|
UTSW |
4 |
118,613,126 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R7143:Cfap57
|
UTSW |
4 |
118,620,709 (GRCm38) |
unclassified |
probably benign |
|
|
R7162:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7174:Cfap57
|
UTSW |
4 |
118,589,067 (GRCm38) |
missense |
probably benign |
0.35 |
|
R7210:Cfap57
|
UTSW |
4 |
118,576,703 (GRCm38) |
nonsense |
probably null |
|
|
R7242:Cfap57
|
UTSW |
4 |
118,593,096 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R7244:Cfap57
|
UTSW |
4 |
118,554,800 (GRCm38) |
nonsense |
probably null |
|
|
R7359:Cfap57
|
UTSW |
4 |
118,598,965 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7373:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7394:Cfap57
|
UTSW |
4 |
118,593,137 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7401:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7412:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7414:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7452:Cfap57
|
UTSW |
4 |
118,595,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7457:Cfap57
|
UTSW |
4 |
118,589,001 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7559:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7642:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7741:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7744:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7745:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7842:Cfap57
|
UTSW |
4 |
118,554,755 (GRCm38) |
nonsense |
probably null |
|
|
R7936:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7940:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R7942:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R8074:Cfap57
|
UTSW |
4 |
118,569,625 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R8301:Cfap57
|
UTSW |
4 |
118,593,074 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8411:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R8447:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R8491:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R8524:Cfap57
|
UTSW |
4 |
118,614,931 (GRCm38) |
missense |
probably benign |
|
|
R8670:Cfap57
|
UTSW |
4 |
118,614,925 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8707:Cfap57
|
UTSW |
4 |
118,593,006 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8790:Cfap57
|
UTSW |
4 |
118,581,914 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R8941:Cfap57
|
UTSW |
4 |
118,569,602 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9139:Cfap57
|
UTSW |
4 |
118,554,851 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9212:Cfap57
|
UTSW |
4 |
118,579,452 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9442:Cfap57
|
UTSW |
4 |
118,606,534 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9525:Cfap57
|
UTSW |
4 |
118,576,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0022:Cfap57
|
UTSW |
4 |
118,614,745 (GRCm38) |
missense |
probably benign |
|
|
Z1088:Cfap57
|
UTSW |
4 |
118,581,882 (GRCm38) |
missense |
probably benign |
0.22 |
|
Z1177:Cfap57
|
UTSW |
4 |
118,598,956 (GRCm38) |
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 |
Incidental Mutation