Incidental Mutation 'R7143:Cfap57'
| ID |
553524 |
| 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 |
045222-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7143 (G1)
|
| Quality Score |
84.0076 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118411748-118477974 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 118477906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030501]
[ENSMUST00000071972]
[ENSMUST00000081921]
[ENSMUST00000147373]
|
| AlphaFold |
Q9D180 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030501
|
| SMART Domains |
Protein: ENSMUSP00000030501
Gene: ENSMUSG00000028729
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ebp2
|
18 |
298 |
2.1e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071972
|
| SMART Domains |
Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
| 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
|
| SMART Domains |
Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
| 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: ENSMUST00000147373
|
| SMART Domains |
Protein: ENSMUSP00000114372
Gene: ENSMUSG00000028729
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ebp2
|
13 |
187 |
4.8e-65 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
C |
T |
7: 103,708,422 (GRCm39) |
C129Y |
probably damaging |
Het |
| Agbl4 |
A |
G |
4: 111,474,333 (GRCm39) |
N374S |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,585,670 (GRCm39) |
S153P |
probably damaging |
Het |
| Akap6 |
T |
G |
12: 52,934,147 (GRCm39) |
D546E |
probably benign |
Het |
| Ankrd17 |
C |
A |
5: 90,433,820 (GRCm39) |
A650S |
possibly damaging |
Het |
| Ankrd53 |
A |
G |
6: 83,739,893 (GRCm39) |
R16G |
possibly damaging |
Het |
| Apba2 |
T |
C |
7: 64,394,165 (GRCm39) |
L570P |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 64,063,377 (GRCm39) |
F101L |
probably damaging |
Het |
| Cadm4 |
T |
A |
7: 24,198,992 (GRCm39) |
I89N |
possibly damaging |
Het |
| Cadps |
C |
T |
14: 12,491,838 (GRCm38) |
V771I |
probably benign |
Het |
| Cenph |
A |
G |
13: 100,898,285 (GRCm39) |
V206A |
possibly damaging |
Het |
| Cenpn |
A |
G |
8: 117,663,966 (GRCm39) |
T253A |
probably benign |
Het |
| Cep120 |
C |
T |
18: 53,816,457 (GRCm39) |
G939R |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,791,673 (GRCm39) |
I166V |
probably benign |
Het |
| Cstf3 |
T |
A |
2: 104,476,961 (GRCm39) |
V144E |
probably benign |
Het |
| Cyp21a1 |
T |
A |
17: 35,021,300 (GRCm39) |
H357L |
probably damaging |
Het |
| Cyth3 |
T |
A |
5: 143,670,151 (GRCm39) |
V12E |
unknown |
Het |
| Dgat2 |
T |
C |
7: 98,806,331 (GRCm39) |
I289V |
probably benign |
Het |
| Dip2a |
A |
G |
10: 76,133,625 (GRCm39) |
C527R |
probably damaging |
Het |
| Dnah17 |
A |
C |
11: 117,976,956 (GRCm39) |
W1879G |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,645,076 (GRCm39) |
T504A |
possibly damaging |
Het |
| Efl1 |
C |
T |
7: 82,411,888 (GRCm39) |
P759L |
probably damaging |
Het |
| Egfr |
A |
C |
11: 16,821,627 (GRCm39) |
I351L |
probably benign |
Het |
| Ercc6 |
G |
A |
14: 32,292,262 (GRCm39) |
E1209K |
probably damaging |
Het |
| Fam135b |
A |
T |
15: 71,351,000 (GRCm39) |
M292K |
probably benign |
Het |
| Fbxl7 |
C |
A |
15: 26,543,244 (GRCm39) |
V468L |
probably benign |
Het |
| Fhl2 |
G |
T |
1: 43,181,011 (GRCm39) |
H60N |
probably damaging |
Het |
| G6pc1 |
G |
T |
11: 101,261,549 (GRCm39) |
R83L |
probably damaging |
Het |
| Gata4 |
C |
A |
14: 63,442,066 (GRCm39) |
R252L |
probably damaging |
Het |
| Glt8d1 |
T |
A |
14: 30,728,602 (GRCm39) |
I10N |
probably damaging |
Het |
| Gm10803 |
T |
A |
2: 93,394,304 (GRCm39) |
Y25* |
probably null |
Het |
| Gm19345 |
T |
C |
7: 19,591,759 (GRCm39) |
F108S |
unknown |
Het |
| Gm4952 |
A |
G |
19: 12,595,771 (GRCm39) |
T54A |
possibly damaging |
Het |
| Gprc6a |
C |
T |
10: 51,490,986 (GRCm39) |
R921H |
probably benign |
Het |
| Hc |
A |
T |
2: 34,940,450 (GRCm39) |
H129Q |
probably benign |
Het |
| Heatr5a |
T |
C |
12: 52,008,251 (GRCm39) |
R31G |
probably benign |
Het |
| Hephl1 |
T |
C |
9: 14,972,106 (GRCm39) |
K945E |
possibly damaging |
Het |
| Ik |
G |
T |
18: 36,884,230 (GRCm39) |
M237I |
probably damaging |
Het |
| Izumo1 |
T |
A |
7: 45,276,519 (GRCm39) |
S361T |
probably benign |
Het |
| Kcnq4 |
A |
G |
4: 120,568,436 (GRCm39) |
F427L |
probably benign |
Het |
| Kifap3 |
T |
A |
1: 163,683,609 (GRCm39) |
M430K |
possibly damaging |
Het |
| Kifap3 |
A |
T |
1: 163,653,428 (GRCm39) |
N338I |
possibly damaging |
Het |
| Lamb3 |
A |
G |
1: 192,986,873 (GRCm39) |
E53G |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,202,655 (GRCm39) |
I1266K |
|
Het |
| Nat8 |
A |
T |
6: 85,807,485 (GRCm39) |
I216K |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,156,524 (GRCm39) |
I454V |
probably benign |
Het |
| Nlrp4f |
A |
T |
13: 65,343,120 (GRCm39) |
V153E |
probably damaging |
Het |
| Nlrp4f |
G |
C |
13: 65,347,166 (GRCm39) |
Q9E |
possibly damaging |
Het |
| Npy2r |
A |
T |
3: 82,448,250 (GRCm39) |
I175N |
probably benign |
Het |
| Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
| Or1l4b |
A |
G |
2: 37,036,886 (GRCm39) |
T221A |
probably benign |
Het |
| Or4a74 |
T |
C |
2: 89,440,363 (GRCm39) |
M28V |
probably benign |
Het |
| Or52n3 |
C |
T |
7: 104,530,393 (GRCm39) |
P160S |
probably damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,125,708 (GRCm39) |
N154S |
probably damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,428,934 (GRCm39) |
E302D |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,908,836 (GRCm39) |
V5048E |
unknown |
Het |
| Pcnt |
A |
G |
10: 76,224,894 (GRCm39) |
L1870S |
possibly damaging |
Het |
| Pigc |
T |
C |
1: 161,798,161 (GRCm39) |
Y48H |
probably damaging |
Het |
| Pisd |
C |
T |
5: 32,895,846 (GRCm39) |
V241I |
possibly damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,437,033 (GRCm39) |
M3464L |
possibly damaging |
Het |
| Pofut2 |
T |
A |
10: 77,095,260 (GRCm39) |
I35N |
probably benign |
Het |
| Prss27 |
A |
G |
17: 24,264,632 (GRCm39) |
Y265C |
probably damaging |
Het |
| Prss56 |
T |
A |
1: 87,115,875 (GRCm39) |
I583K |
probably benign |
Het |
| Rnpep |
T |
C |
1: 135,211,487 (GRCm39) |
E87G |
probably benign |
Het |
| Shtn1 |
T |
C |
19: 59,007,338 (GRCm39) |
H304R |
probably damaging |
Het |
| Slc23a4 |
A |
T |
6: 34,955,848 (GRCm39) |
I62N |
probably damaging |
Het |
| Slc35e2 |
A |
T |
4: 155,703,051 (GRCm39) |
I355F |
probably benign |
Het |
| Snx25 |
T |
C |
8: 46,488,752 (GRCm39) |
I868V |
possibly damaging |
Het |
| Spatc1l |
T |
A |
10: 76,405,765 (GRCm39) |
L323Q |
probably damaging |
Het |
| Speer4a2 |
T |
A |
5: 26,290,674 (GRCm39) |
I166F |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,428,814 (GRCm39) |
V962A |
probably benign |
Het |
| Tas2r140 |
A |
G |
6: 133,032,482 (GRCm39) |
I92T |
probably benign |
Het |
| Trim17 |
C |
A |
11: 58,856,010 (GRCm39) |
Y22* |
probably null |
Het |
| Tti1 |
T |
A |
2: 157,849,596 (GRCm39) |
M548L |
probably benign |
Het |
| Unc93b1 |
T |
C |
19: 3,985,204 (GRCm39) |
V4A |
unknown |
Het |
| Utp3 |
G |
C |
5: 88,702,376 (GRCm39) |
|
probably benign |
Het |
| Vmn1r225 |
A |
T |
17: 20,722,646 (GRCm39) |
Y29F |
probably benign |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,648 (GRCm39) |
I30N |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,801,846 (GRCm39) |
M152L |
probably benign |
Het |
| Wdr20rt |
T |
G |
12: 65,272,692 (GRCm39) |
F52V |
probably benign |
Het |
| Zfp869 |
G |
T |
8: 70,159,306 (GRCm39) |
H422Q |
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 |
|
R1709:Cfap57
|
UTSW |
4 |
118,428,901 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- TACCACGGTGGACATGGTAC -3'
(R):5'- ACTCCGAGTCCGACTCTGAAAG -3'
Sequencing Primer
(F):5'- ACGGTGGACATGGTACCTGTC -3'
(R):5'- GTCCGACTCTGAAAGCGGAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation