Incidental Mutation 'R4974:Cfap57'
| ID |
382472 |
| 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 |
042569-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4974 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118554551-118620777 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 118593054 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 624
(L624M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071972]
[ENSMUST00000081921]
|
| AlphaFold |
Q9D180 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071972
AA Change: L624M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: L624M
| 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 damaging
Transcript: ENSMUST00000081921
AA Change: L624M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: L624M
| 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 |
0.3843 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
97% (94/97) |
| 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 |
|---|
| 9130011E15Rik |
A |
T |
19: 45,820,287 (GRCm38) |
F655Y |
probably damaging |
Het |
| A730061H03Rik |
C |
T |
14: 55,560,117 (GRCm38) |
|
probably benign |
Het |
| Acsf2 |
A |
C |
11: 94,569,329 (GRCm38) |
M399R |
possibly damaging |
Het |
| Adra2c |
C |
A |
5: 35,280,924 (GRCm38) |
R347S |
probably benign |
Het |
| Akap9 |
A |
G |
5: 3,961,466 (GRCm38) |
K723R |
possibly damaging |
Het |
| Anxa9 |
A |
C |
3: 95,308,013 (GRCm38) |
|
probably benign |
Het |
| Aqr |
T |
C |
2: 114,113,351 (GRCm38) |
H1102R |
probably damaging |
Het |
| Arrdc2 |
A |
G |
8: 70,837,518 (GRCm38) |
V173A |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,478,010 (GRCm38) |
V1545A |
probably benign |
Het |
| Bbs5 |
C |
T |
2: 69,647,234 (GRCm38) |
|
probably benign |
Het |
| Bnip2 |
A |
G |
9: 70,003,434 (GRCm38) |
T255A |
possibly damaging |
Het |
| Cacna1b |
T |
C |
2: 24,648,523 (GRCm38) |
T1531A |
probably damaging |
Het |
| Cast |
T |
C |
13: 74,807,823 (GRCm38) |
K9R |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,607,188 (GRCm38) |
|
probably null |
Het |
| Cyp2c39 |
A |
T |
19: 39,563,879 (GRCm38) |
M339L |
probably benign |
Het |
| Dcst1 |
T |
A |
3: 89,357,803 (GRCm38) |
T247S |
probably benign |
Het |
| Dnajc18 |
T |
A |
18: 35,683,319 (GRCm38) |
I189F |
possibly damaging |
Het |
| Eef2kmt |
T |
C |
16: 5,249,012 (GRCm38) |
T126A |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,321,705 (GRCm38) |
E624G |
probably damaging |
Het |
| Erbb3 |
G |
A |
10: 128,572,448 (GRCm38) |
H866Y |
probably benign |
Het |
| F13a1 |
C |
T |
13: 36,916,863 (GRCm38) |
|
probably null |
Het |
| Fgd3 |
T |
A |
13: 49,278,602 (GRCm38) |
N392I |
probably damaging |
Het |
| Fgf7 |
A |
T |
2: 126,088,240 (GRCm38) |
M98L |
probably benign |
Het |
| G2e3 |
T |
A |
12: 51,369,139 (GRCm38) |
S553T |
probably benign |
Het |
| Glipr1 |
C |
A |
10: 111,993,506 (GRCm38) |
E117* |
probably null |
Het |
| Gm11060 |
A |
T |
2: 105,093,783 (GRCm38) |
|
probably benign |
Het |
| Gm4787 |
A |
G |
12: 81,377,629 (GRCm38) |
I585T |
probably damaging |
Het |
| Gm6055 |
A |
T |
14: 48,079,458 (GRCm38) |
|
noncoding transcript |
Het |
| Gpbar1 |
TACCAC |
TAC |
1: 74,279,545 (GRCm38) |
|
probably benign |
Het |
| Gpt2 |
T |
A |
8: 85,519,439 (GRCm38) |
|
probably benign |
Het |
| Gtf2ird1 |
A |
T |
5: 134,357,831 (GRCm38) |
Y345* |
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,819,449 (GRCm38) |
T235S |
probably benign |
Het |
| Igkv5-48 |
A |
G |
6: 69,726,754 (GRCm38) |
Y56H |
possibly damaging |
Het |
| Il17re |
C |
T |
6: 113,469,569 (GRCm38) |
T427I |
probably benign |
Het |
| Itpr3 |
A |
T |
17: 27,083,608 (GRCm38) |
D80V |
probably damaging |
Het |
| Kif21a |
G |
T |
15: 90,949,010 (GRCm38) |
H1317N |
probably benign |
Het |
| Kif28 |
T |
C |
1: 179,698,644 (GRCm38) |
K144E |
probably damaging |
Het |
| Kif4-ps |
A |
C |
12: 101,147,071 (GRCm38) |
|
noncoding transcript |
Het |
| Klk11 |
C |
T |
7: 43,777,736 (GRCm38) |
T148I |
probably damaging |
Het |
| Klkb1 |
T |
A |
8: 45,286,958 (GRCm38) |
H99L |
probably damaging |
Het |
| Kpna6 |
A |
C |
4: 129,656,405 (GRCm38) |
|
probably null |
Het |
| Lama3 |
G |
T |
18: 12,552,826 (GRCm38) |
K1132N |
probably damaging |
Het |
| Lcp1 |
T |
A |
14: 75,208,471 (GRCm38) |
L264* |
probably null |
Het |
| Map2 |
T |
C |
1: 66,413,505 (GRCm38) |
V360A |
probably benign |
Het |
| Med13 |
A |
T |
11: 86,298,847 (GRCm38) |
S1079T |
probably damaging |
Het |
| Mettl13 |
A |
G |
1: 162,537,220 (GRCm38) |
M162T |
probably damaging |
Het |
| Mppe1 |
T |
G |
18: 67,228,062 (GRCm38) |
E208A |
probably benign |
Het |
| Msantd2 |
A |
C |
9: 37,489,379 (GRCm38) |
K19T |
possibly damaging |
Het |
| Mylk3 |
A |
G |
8: 85,364,783 (GRCm38) |
V131A |
probably damaging |
Het |
| Myocd |
A |
T |
11: 65,183,473 (GRCm38) |
S609T |
possibly damaging |
Het |
| Ncbp3 |
G |
A |
11: 73,053,529 (GRCm38) |
|
probably null |
Het |
| Neb |
T |
A |
2: 52,246,859 (GRCm38) |
L3203F |
probably damaging |
Het |
| Notch2 |
C |
A |
3: 98,139,633 (GRCm38) |
T1756K |
probably benign |
Het |
| Nphp4 |
A |
T |
4: 152,537,793 (GRCm38) |
R544W |
probably damaging |
Het |
| Olfr1179 |
T |
G |
2: 88,402,412 (GRCm38) |
H174P |
probably damaging |
Het |
| Olfr368 |
A |
T |
2: 37,332,566 (GRCm38) |
D273V |
probably damaging |
Het |
| Olfr402 |
A |
T |
11: 74,155,919 (GRCm38) |
Y255F |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,589,898 (GRCm38) |
V163E |
possibly damaging |
Het |
| Pcdhgb1 |
C |
A |
18: 37,682,372 (GRCm38) |
Q639K |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 125,851,130 (GRCm38) |
V936A |
probably benign |
Het |
| Pcsk7 |
T |
A |
9: 45,918,862 (GRCm38) |
M418K |
probably damaging |
Het |
| Pglyrp4 |
T |
C |
3: 90,733,007 (GRCm38) |
I188T |
probably benign |
Het |
| Pgs1 |
A |
G |
11: 118,005,519 (GRCm38) |
R339G |
probably benign |
Het |
| Pik3r3 |
A |
G |
4: 116,286,191 (GRCm38) |
I294V |
probably benign |
Het |
| Pik3r6 |
A |
G |
11: 68,539,945 (GRCm38) |
D520G |
probably damaging |
Het |
| Pkdrej |
A |
G |
15: 85,820,409 (GRCm38) |
V442A |
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 147,030,419 (GRCm38) |
|
probably benign |
Het |
| Ppp3ca |
C |
A |
3: 136,935,049 (GRCm38) |
Q454K |
possibly damaging |
Het |
| Ppp5c |
A |
T |
7: 17,009,936 (GRCm38) |
M191K |
probably damaging |
Het |
| Prl4a1 |
A |
T |
13: 28,023,325 (GRCm38) |
Y194F |
possibly damaging |
Het |
| Ptpn21 |
G |
T |
12: 98,680,103 (GRCm38) |
T1032K |
probably damaging |
Het |
| Ptprh |
A |
T |
7: 4,551,007 (GRCm38) |
|
probably null |
Het |
| Ptprm |
T |
A |
17: 66,678,067 (GRCm38) |
R1447S |
probably benign |
Het |
| Pxk |
T |
A |
14: 8,140,734 (GRCm38) |
D236E |
probably damaging |
Het |
| Qars |
T |
C |
9: 108,508,931 (GRCm38) |
F107S |
probably damaging |
Het |
| Rbbp6 |
A |
G |
7: 122,999,808 (GRCm38) |
|
probably benign |
Het |
| Rptor |
A |
T |
11: 119,821,640 (GRCm38) |
|
probably benign |
Het |
| Rtn4 |
T |
A |
11: 29,740,994 (GRCm38) |
M1095K |
probably damaging |
Het |
| Serpinb3b |
T |
A |
1: 107,154,715 (GRCm38) |
H273L |
probably benign |
Het |
| Sgce |
G |
A |
6: 4,689,630 (GRCm38) |
T401M |
probably benign |
Het |
| Slc12a6 |
C |
T |
2: 112,358,525 (GRCm38) |
R1083W |
probably damaging |
Het |
| Slc45a4 |
A |
T |
15: 73,584,450 (GRCm38) |
M635K |
probably damaging |
Het |
| Slc6a1 |
T |
A |
6: 114,307,701 (GRCm38) |
V240D |
probably damaging |
Het |
| Snx9 |
G |
A |
17: 5,902,519 (GRCm38) |
|
probably null |
Het |
| Spred3 |
A |
G |
7: 29,167,824 (GRCm38) |
V49A |
probably damaging |
Het |
| Tars |
A |
G |
15: 11,390,391 (GRCm38) |
F334S |
probably damaging |
Het |
| Tdpoz1 |
A |
G |
3: 93,671,147 (GRCm38) |
V110A |
probably benign |
Het |
| Tfrc |
T |
G |
16: 32,618,279 (GRCm38) |
V252G |
probably damaging |
Het |
| Tm6sf2 |
T |
C |
8: 70,075,478 (GRCm38) |
|
probably benign |
Het |
| Txlnb |
T |
C |
10: 17,838,969 (GRCm38) |
V383A |
probably damaging |
Het |
| Utp20 |
C |
A |
10: 88,816,949 (GRCm38) |
V368L |
probably benign |
Het |
| Vmn2r12 |
A |
T |
5: 109,091,506 (GRCm38) |
V397E |
probably damaging |
Het |
| Zdhhc12 |
G |
A |
2: 30,091,526 (GRCm38) |
R175W |
probably damaging |
Het |
| Zfyve9 |
A |
G |
4: 108,680,900 (GRCm38) |
|
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 |
|
R4999:Cfap57
|
UTSW |
4 |
118,595,848 (GRCm38) |
missense |
probably benign |
0.01 |
|
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'- CCAGGAATTTCATCATGGGTATGAC -3'
(R):5'- TGGGACACTGGAGACACTGTTC -3'
Sequencing Primer
(F):5'- TTCATCATGGGTATGACTAGCC -3'
(R):5'- ACTGGAGACACTGTTCAGCCC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation