Incidental Mutation 'R1978:Cfap57'
| ID |
221972 |
| 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 |
039991-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1978 (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 G
at 118593132 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 598
(S598P)
|
| 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: S598P
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: S598P
| 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: S598P
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: S598P
| 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: 96.7%
- 20x: 93.9%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 63,898,537 (GRCm38) |
C205* |
probably null |
Het |
| 2810474O19Rik |
T |
A |
6: 149,326,432 (GRCm38) |
N325K |
probably benign |
Het |
| 4921539E11Rik |
T |
A |
4: 103,270,764 (GRCm38) |
T55S |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,313,855 (GRCm38) |
D88G |
probably benign |
Het |
| Ankrd53 |
C |
A |
6: 83,763,203 (GRCm38) |
F84L |
probably damaging |
Het |
| Apol7b |
A |
C |
15: 77,423,339 (GRCm38) |
F319V |
probably damaging |
Het |
| Bsn |
A |
G |
9: 108,114,549 (GRCm38) |
S1335P |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,803,158 (GRCm38) |
|
probably null |
Het |
| Commd8 |
T |
C |
5: 72,165,499 (GRCm38) |
H25R |
probably damaging |
Het |
| Crisp4 |
T |
C |
1: 18,128,665 (GRCm38) |
I143V |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,438,145 (GRCm38) |
T483S |
probably benign |
Het |
| Dbx2 |
C |
T |
15: 95,632,353 (GRCm38) |
M244I |
probably damaging |
Het |
| Dnah6 |
T |
G |
6: 73,121,970 (GRCm38) |
H1982P |
possibly damaging |
Het |
| Fam220a |
C |
A |
5: 143,563,127 (GRCm38) |
P98Q |
probably damaging |
Het |
| Ggnbp1 |
A |
G |
17: 27,029,543 (GRCm38) |
K29E |
possibly damaging |
Het |
| Gm14569 |
A |
C |
X: 36,432,128 (GRCm38) |
M976R |
probably benign |
Het |
| Gm9573 |
T |
A |
17: 35,622,965 (GRCm38) |
|
probably benign |
Het |
| Hck |
G |
T |
2: 153,129,856 (GRCm38) |
W112C |
probably damaging |
Het |
| Heatr5a |
A |
T |
12: 51,939,658 (GRCm38) |
S591T |
possibly damaging |
Het |
| Hhat |
A |
G |
1: 192,717,107 (GRCm38) |
S242P |
probably benign |
Het |
| Hnrnpll |
A |
G |
17: 80,044,518 (GRCm38) |
S333P |
probably benign |
Het |
| Hoxc6 |
T |
C |
15: 103,010,007 (GRCm38) |
|
probably null |
Het |
| Inpp5j |
G |
A |
11: 3,502,150 (GRCm38) |
P367S |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,133,597 (GRCm38) |
|
probably null |
Het |
| Loxhd1 |
T |
A |
18: 77,321,642 (GRCm38) |
I194N |
possibly damaging |
Het |
| Miga1 |
CCAGGGCAG |
CCAG |
3: 152,335,304 (GRCm38) |
|
probably null |
Het |
| Mkln1 |
C |
T |
6: 31,490,530 (GRCm38) |
Q60* |
probably null |
Het |
| Mybph |
C |
A |
1: 134,196,996 (GRCm38) |
H185N |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,520,829 (GRCm38) |
D9G |
possibly damaging |
Het |
| Myo6 |
A |
T |
9: 80,228,925 (GRCm38) |
D110V |
probably damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,691,299 (GRCm38) |
V412A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,287,345 (GRCm38) |
K1328R |
probably damaging |
Het |
| Olfm5 |
T |
A |
7: 104,164,741 (GRCm38) |
Q22L |
unknown |
Het |
| Olfr1106 |
C |
T |
2: 87,048,835 (GRCm38) |
V134M |
possibly damaging |
Het |
| Olfr1328 |
A |
T |
4: 118,934,184 (GRCm38) |
Y221* |
probably null |
Het |
| Olfr1355 |
A |
G |
10: 78,879,280 (GRCm38) |
Y36C |
probably damaging |
Het |
| Olfr1414 |
C |
A |
1: 92,511,777 (GRCm38) |
G84C |
probably damaging |
Het |
| Olfr1423 |
T |
C |
19: 12,036,341 (GRCm38) |
T134A |
probably benign |
Het |
| Olfr414 |
T |
A |
1: 174,431,091 (GRCm38) |
I221N |
probably damaging |
Het |
| P3h1 |
A |
T |
4: 119,247,976 (GRCm38) |
Q717L |
probably null |
Het |
| Pclo |
T |
C |
5: 14,713,795 (GRCm38) |
I4094T |
unknown |
Het |
| Pfdn6 |
G |
A |
17: 33,939,077 (GRCm38) |
R73W |
probably benign |
Het |
| Phyhipl |
A |
C |
10: 70,559,761 (GRCm38) |
M205R |
possibly damaging |
Het |
| Pitpnm1 |
C |
T |
19: 4,107,973 (GRCm38) |
|
probably null |
Het |
| Plcg1 |
A |
G |
2: 160,752,578 (GRCm38) |
|
probably null |
Het |
| Pnldc1 |
A |
G |
17: 12,906,505 (GRCm38) |
S81P |
possibly damaging |
Het |
| Pno1 |
T |
C |
11: 17,204,519 (GRCm38) |
I221V |
possibly damaging |
Het |
| Porcn |
A |
G |
X: 8,204,301 (GRCm38) |
V75A |
probably damaging |
Het |
| Prkcg |
T |
A |
7: 3,305,346 (GRCm38) |
C69S |
probably damaging |
Het |
| Rbbp6 |
G |
T |
7: 122,999,488 (GRCm38) |
|
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,110,324 (GRCm38) |
|
probably benign |
Het |
| Scly |
A |
G |
1: 91,320,169 (GRCm38) |
D413G |
probably damaging |
Het |
| Scn11a |
G |
A |
9: 119,780,795 (GRCm38) |
R996* |
probably null |
Het |
| Slc6a13 |
A |
T |
6: 121,332,373 (GRCm38) |
D281V |
probably damaging |
Het |
| Slfn5 |
T |
C |
11: 82,956,616 (GRCm38) |
V109A |
probably benign |
Het |
| Smyd1 |
A |
T |
6: 71,312,719 (GRCm38) |
|
probably null |
Het |
| Snx29 |
T |
A |
16: 11,367,724 (GRCm38) |
M57K |
probably benign |
Het |
| Stag1 |
T |
G |
9: 100,888,086 (GRCm38) |
I603S |
probably benign |
Het |
| Svep1 |
C |
A |
4: 58,097,292 (GRCm38) |
C1417F |
possibly damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,189,351 (GRCm38) |
I392V |
probably benign |
Het |
| Tchh |
T |
C |
3: 93,446,799 (GRCm38) |
L1182P |
unknown |
Het |
| Tle3 |
T |
A |
9: 61,394,633 (GRCm38) |
V108E |
probably damaging |
Het |
| Tmem144 |
T |
C |
3: 79,825,400 (GRCm38) |
|
probably null |
Het |
| Tpr |
T |
G |
1: 150,419,907 (GRCm38) |
L894V |
possibly damaging |
Het |
| Trappc9 |
A |
T |
15: 73,000,025 (GRCm38) |
V472E |
probably damaging |
Het |
| Trim38 |
T |
C |
13: 23,791,098 (GRCm38) |
V340A |
probably damaging |
Het |
| Ttc37 |
T |
C |
13: 76,134,815 (GRCm38) |
V752A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,811,243 (GRCm38) |
L5176Q |
possibly damaging |
Het |
| Vmn1r12 |
T |
A |
6: 57,159,509 (GRCm38) |
I197N |
possibly damaging |
Het |
| Vmn1r26 |
T |
C |
6: 58,009,126 (GRCm38) |
Y26C |
possibly damaging |
Het |
| Vwa3a |
A |
G |
7: 120,758,954 (GRCm38) |
I83V |
probably null |
Het |
| Xirp1 |
C |
T |
9: 120,018,591 (GRCm38) |
E409K |
probably benign |
Het |
| Zc3h14 |
T |
G |
12: 98,763,922 (GRCm38) |
I46R |
probably damaging |
Het |
| Zfp976 |
A |
G |
7: 42,613,841 (GRCm38) |
C191R |
probably damaging |
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 |
|
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 |
|
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'- TATGACTAGCCAGCAGGTGC -3'
(R):5'- TTCACATGCGGCTACTATACC -3'
Sequencing Primer
(F):5'- GCAACACAGAAACTGCTGG -3'
(R):5'- GCGGCTACTATACCAAATACTATAAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation