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 |
Wdr65, 1110020C03Rik, C130004B06Rik, LOC384050 |
| 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 |
118554551-118620777 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118571724 bp (GRCm38)
|
| 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: 121,654,612 (GRCm38) |
L623M |
probably benign |
Het |
| Akap13 |
T |
G |
7: 75,611,035 (GRCm38) |
C333G |
probably benign |
Het |
| Akap6 |
T |
C |
12: 53,069,125 (GRCm38) |
S1004P |
probably damaging |
Het |
| Akap7 |
T |
C |
10: 25,239,685 (GRCm38) |
T181A |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,408,797 (GRCm38) |
E186G |
possibly damaging |
Het |
| Arhgap17 |
T |
C |
7: 123,286,702 (GRCm38) |
T736A |
probably benign |
Het |
| Bmp8a |
G |
T |
4: 123,324,585 (GRCm38) |
R214S |
possibly damaging |
Het |
| Cacna1f |
T |
C |
X: 7,620,439 (GRCm38) |
S890P |
probably damaging |
Het |
| Cd96 |
A |
T |
16: 46,117,999 (GRCm38) |
Y34* |
probably null |
Het |
| Cdc42ep4 |
A |
G |
11: 113,729,337 (GRCm38) |
L76P |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,391,726 (GRCm38) |
V1195A |
possibly damaging |
Het |
| Chrm3 |
C |
A |
13: 9,877,416 (GRCm38) |
G528V |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 71,801,942 (GRCm38) |
|
probably benign |
Het |
| Col9a1 |
A |
T |
1: 24,185,305 (GRCm38) |
R189S |
unknown |
Het |
| Cul4b |
A |
T |
X: 38,547,851 (GRCm38) |
I481N |
probably damaging |
Het |
| Cyp26b1 |
A |
G |
6: 84,584,459 (GRCm38) |
S74P |
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,371,010 (GRCm38) |
N192S |
probably benign |
Het |
| Dcbld1 |
A |
G |
10: 52,319,476 (GRCm38) |
D260G |
probably damaging |
Het |
| Dhrs7 |
T |
C |
12: 72,653,165 (GRCm38) |
N231S |
probably benign |
Het |
| Disp3 |
G |
A |
4: 148,241,518 (GRCm38) |
P1261L |
probably damaging |
Het |
| Dyx1c1 |
T |
C |
9: 72,960,684 (GRCm38) |
Y76H |
possibly damaging |
Het |
| Eml5 |
C |
A |
12: 98,887,056 (GRCm38) |
V95F |
probably benign |
Het |
| Emsy |
A |
G |
7: 98,647,880 (GRCm38) |
I32T |
probably damaging |
Het |
| Esr1 |
A |
G |
10: 4,783,913 (GRCm38) |
R238G |
probably damaging |
Het |
| Exosc1 |
T |
C |
19: 41,928,085 (GRCm38) |
K84R |
probably benign |
Het |
| F830016B08Rik |
T |
A |
18: 60,300,517 (GRCm38) |
V224E |
probably benign |
Het |
| Fam228a |
T |
A |
12: 4,732,748 (GRCm38) |
N115I |
probably damaging |
Het |
| Farp1 |
T |
C |
14: 121,256,745 (GRCm38) |
I546T |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,289,787 (GRCm38) |
C84* |
probably null |
Het |
| Fbxw17 |
A |
G |
13: 50,425,774 (GRCm38) |
|
probably benign |
Het |
| Foxo4 |
G |
C |
X: 101,258,463 (GRCm38) |
R192P |
probably benign |
Het |
| Galnt7 |
G |
T |
8: 57,542,530 (GRCm38) |
T377K |
probably benign |
Het |
| Garnl3 |
T |
C |
2: 33,034,127 (GRCm38) |
I248V |
probably benign |
Het |
| Glod4 |
A |
G |
11: 76,237,708 (GRCm38) |
Y104H |
probably damaging |
Het |
| Glrb |
T |
C |
3: 80,860,175 (GRCm38) |
Y246C |
probably damaging |
Het |
| Gm5292 |
A |
G |
5: 43,944,410 (GRCm38) |
|
noncoding transcript |
Het |
| Gm5424 |
C |
A |
10: 62,072,307 (GRCm38) |
|
noncoding transcript |
Het |
| Gm7276 |
C |
T |
18: 77,185,735 (GRCm38) |
|
probably benign |
Het |
| Gm9774 |
T |
A |
3: 92,428,231 (GRCm38) |
D388V |
probably damaging |
Het |
| Golga5 |
A |
G |
12: 102,492,131 (GRCm38) |
N611S |
possibly damaging |
Het |
| Gucy2c |
A |
C |
6: 136,744,027 (GRCm38) |
Y391D |
probably damaging |
Het |
| H6pd |
A |
G |
4: 149,981,673 (GRCm38) |
I760T |
probably damaging |
Het |
| Hapln2 |
T |
A |
3: 88,024,405 (GRCm38) |
I5F |
possibly damaging |
Het |
| Hdac11 |
G |
T |
6: 91,168,824 (GRCm38) |
V169L |
probably benign |
Het |
| Hectd2 |
T |
C |
19: 36,609,416 (GRCm38) |
V557A |
possibly damaging |
Het |
| Huwe1 |
T |
A |
X: 151,864,753 (GRCm38) |
N747K |
probably benign |
Het |
| Ints1 |
A |
G |
5: 139,774,522 (GRCm38) |
S66P |
probably benign |
Het |
| Ipo7 |
A |
G |
7: 110,027,132 (GRCm38) |
D49G |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,988,520 (GRCm38) |
C575Y |
probably damaging |
Het |
| Klhl3 |
A |
G |
13: 58,033,230 (GRCm38) |
V250A |
possibly damaging |
Het |
| Klk1b24 |
A |
G |
7: 44,190,428 (GRCm38) |
|
probably null |
Het |
| Map3k11 |
T |
A |
19: 5,695,572 (GRCm38) |
Y333* |
probably null |
Het |
| Mbp |
A |
G |
18: 82,554,349 (GRCm38) |
T57A |
probably benign |
Het |
| Myh9 |
A |
G |
15: 77,773,264 (GRCm38) |
|
probably benign |
Het |
| Mypn |
C |
T |
10: 63,125,693 (GRCm38) |
R1040Q |
probably damaging |
Het |
| Ncdn |
A |
G |
4: 126,751,939 (GRCm38) |
|
probably null |
Het |
| Ndn |
C |
T |
7: 62,348,508 (GRCm38) |
P34L |
probably benign |
Het |
| Odf3l1 |
A |
T |
9: 56,851,743 (GRCm38) |
F43I |
possibly damaging |
Het |
| Olfr509 |
T |
A |
7: 108,646,364 (GRCm38) |
T71S |
probably benign |
Het |
| Olfr566 |
G |
A |
7: 102,856,362 (GRCm38) |
Q307* |
probably null |
Het |
| Olfr623 |
T |
C |
7: 103,660,798 (GRCm38) |
|
probably null |
Het |
| Olfr726 |
A |
G |
14: 50,084,042 (GRCm38) |
F213S |
probably benign |
Het |
| Olfr749 |
AGGGATTGGG |
AGGGATTGGGATTGGG |
14: 50,736,687 (GRCm38) |
|
probably benign |
Het |
| Olfr924 |
T |
A |
9: 38,848,605 (GRCm38) |
S164T |
possibly damaging |
Het |
| Pbx3 |
T |
C |
2: 34,224,452 (GRCm38) |
T82A |
possibly damaging |
Het |
| Pi15 |
T |
C |
1: 17,602,721 (GRCm38) |
F48S |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,585,152 (GRCm38) |
|
probably benign |
Het |
| Ppard |
C |
G |
17: 28,286,374 (GRCm38) |
R12G |
unknown |
Het |
| Prrc2c |
G |
T |
1: 162,704,982 (GRCm38) |
|
probably benign |
Het |
| Prune1 |
A |
G |
3: 95,268,242 (GRCm38) |
Y41H |
possibly damaging |
Het |
| Rcsd1 |
T |
C |
1: 165,655,972 (GRCm38) |
D150G |
probably damaging |
Het |
| Rgs12 |
A |
T |
5: 34,966,112 (GRCm38) |
Q413L |
possibly damaging |
Het |
| Rhox2h |
A |
G |
X: 37,669,195 (GRCm38) |
Y185H |
probably damaging |
Het |
| Rnf17 |
T |
A |
14: 56,504,007 (GRCm38) |
C1306* |
probably null |
Het |
| Ros1 |
T |
A |
10: 52,100,087 (GRCm38) |
M1499L |
probably benign |
Het |
| Rubcnl |
T |
C |
14: 75,047,549 (GRCm38) |
S503P |
probably damaging |
Het |
| Sap18b |
A |
T |
8: 95,825,714 (GRCm38) |
R117S |
probably benign |
Het |
| Shank2 |
A |
G |
7: 144,410,599 (GRCm38) |
E858G |
probably damaging |
Het |
| Shtn1 |
T |
C |
19: 59,032,200 (GRCm38) |
R197G |
probably damaging |
Het |
| Slamf8 |
G |
A |
1: 172,584,520 (GRCm38) |
R163* |
probably null |
Het |
| Slc6a3 |
T |
C |
13: 73,566,292 (GRCm38) |
I392T |
possibly damaging |
Het |
| Sp140 |
C |
T |
1: 85,620,051 (GRCm38) |
|
probably benign |
Het |
| Sp8 |
T |
C |
12: 118,849,016 (GRCm38) |
V202A |
possibly damaging |
Het |
| Spata13 |
T |
C |
14: 60,709,459 (GRCm38) |
V652A |
probably damaging |
Het |
| Stpg2 |
A |
T |
3: 139,317,401 (GRCm38) |
T393S |
probably benign |
Het |
| Tagap |
A |
G |
17: 7,933,545 (GRCm38) |
T521A |
probably benign |
Het |
| Tagap |
T |
C |
17: 7,931,467 (GRCm38) |
M228T |
probably damaging |
Het |
| Tas2r123 |
T |
G |
6: 132,847,565 (GRCm38) |
S142A |
probably damaging |
Het |
| Tat |
T |
A |
8: 109,991,629 (GRCm38) |
S49T |
probably benign |
Het |
| Tfap4 |
G |
T |
16: 4,552,069 (GRCm38) |
Q41K |
possibly damaging |
Het |
| Thbs2 |
T |
C |
17: 14,685,813 (GRCm38) |
N275S |
probably benign |
Het |
| Tnfsf14 |
T |
A |
17: 57,190,867 (GRCm38) |
R122W |
probably damaging |
Het |
| Tnrc6a |
T |
C |
7: 123,192,917 (GRCm38) |
V1886A |
possibly damaging |
Het |
| Trim56 |
G |
A |
5: 137,114,398 (GRCm38) |
A88V |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,841,756 (GRCm38) |
Y1081H |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,870,419 (GRCm38) |
L341H |
possibly damaging |
Het |
| Ube2o |
G |
A |
11: 116,541,494 (GRCm38) |
T882I |
probably benign |
Het |
| Uhrf1bp1 |
T |
A |
17: 27,894,746 (GRCm38) |
D1297E |
probably damaging |
Het |
| Upk3a |
A |
G |
15: 85,020,614 (GRCm38) |
T188A |
possibly damaging |
Het |
| Vmn1r79 |
A |
C |
7: 12,176,431 (GRCm38) |
D80A |
probably damaging |
Het |
| Wls |
C |
A |
3: 159,911,813 (GRCm38) |
T375K |
probably benign |
Het |
| Wnt5a |
T |
C |
14: 28,511,878 (GRCm38) |
M1T |
probably null |
Het |
| Zcchc4 |
A |
G |
5: 52,796,590 (GRCm38) |
E204G |
probably damaging |
Het |
| Zfp513 |
G |
A |
5: 31,200,334 (GRCm38) |
P232S |
possibly 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 |
|
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 |
|
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'- ACATTTGTGCAAGCCTGGAAC -3'
(R):5'- AGCAGTGCTTATAGGAGGGC -3'
Sequencing Primer
(F):5'- GTGCAAGCCTGGAACCAGAC -3'
(R):5'- CAAGTGTCAAGGAGCAAGGTCTC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation