Incidental Mutation 'R6244:Cfap57'
| ID |
505435 |
| 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 |
044435-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6244 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118411748-118477974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 118436607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 930
(I930L)
|
| 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: I930L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: I930L
| 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: I930L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: I930L
| 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 |
0.0813 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
96% (82/85) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
T |
C |
2: 155,845,150 (GRCm39) |
H113R |
possibly damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,402,531 (GRCm39) |
M499K |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,255,050 (GRCm39) |
T211I |
probably damaging |
Het |
| Adss2 |
C |
T |
1: 177,604,395 (GRCm39) |
E153K |
probably benign |
Het |
| Ago4 |
C |
A |
4: 126,405,280 (GRCm39) |
G431V |
possibly damaging |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Atp2b4 |
T |
A |
1: 133,654,299 (GRCm39) |
I769F |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,531,272 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 37,011,148 (GRCm39) |
V1782A |
probably benign |
Het |
| Brap |
C |
A |
5: 121,803,372 (GRCm39) |
D173E |
probably benign |
Het |
| Brca2 |
G |
T |
5: 150,490,443 (GRCm39) |
R3035L |
probably benign |
Het |
| Ccdc8 |
C |
A |
7: 16,730,176 (GRCm39) |
P555Q |
probably benign |
Het |
| Ccser2 |
A |
G |
14: 36,662,675 (GRCm39) |
S170P |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,300,444 (GRCm39) |
H860R |
probably damaging |
Het |
| Cenpc1 |
C |
A |
5: 86,194,244 (GRCm39) |
R174M |
probably damaging |
Het |
| Cx3cr1 |
C |
T |
9: 119,880,760 (GRCm39) |
R214H |
probably damaging |
Het |
| Cyp4f14 |
T |
A |
17: 33,125,291 (GRCm39) |
H429L |
probably benign |
Het |
| D5Ertd579e |
A |
G |
5: 36,772,620 (GRCm39) |
F592L |
probably damaging |
Het |
| Ddb1 |
A |
G |
19: 10,603,287 (GRCm39) |
E865G |
probably damaging |
Het |
| Ddx50 |
A |
T |
10: 62,457,345 (GRCm39) |
|
probably null |
Het |
| Dpp6 |
A |
G |
5: 27,254,626 (GRCm39) |
T14A |
probably damaging |
Het |
| Echs1 |
C |
A |
7: 139,692,982 (GRCm39) |
Q51H |
possibly damaging |
Het |
| Ecm2 |
A |
T |
13: 49,683,783 (GRCm39) |
D587V |
probably damaging |
Het |
| Ect2l |
A |
T |
10: 18,016,145 (GRCm39) |
Y666N |
possibly damaging |
Het |
| Epha2 |
G |
A |
4: 141,044,223 (GRCm39) |
G342S |
probably benign |
Het |
| Fbxo33 |
C |
A |
12: 59,252,865 (GRCm39) |
K211N |
probably benign |
Het |
| Fchsd2 |
A |
G |
7: 100,908,983 (GRCm39) |
|
probably null |
Het |
| Fen1 |
A |
G |
19: 10,178,051 (GRCm39) |
V131A |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,892,092 (GRCm38) |
E587G |
probably damaging |
Het |
| Foxd3 |
A |
G |
4: 99,545,477 (GRCm39) |
T206A |
possibly damaging |
Het |
| Fut1 |
A |
G |
7: 45,268,730 (GRCm39) |
E228G |
possibly damaging |
Het |
| Galnt13 |
T |
C |
2: 54,823,560 (GRCm39) |
F379L |
probably damaging |
Het |
| Gcnt2 |
A |
C |
13: 41,014,717 (GRCm39) |
E296A |
probably damaging |
Het |
| Gm7145 |
T |
A |
1: 117,913,870 (GRCm39) |
C251S |
probably damaging |
Het |
| Gpam |
G |
A |
19: 55,059,417 (GRCm39) |
P810L |
probably damaging |
Het |
| Il1rl2 |
T |
A |
1: 40,366,726 (GRCm39) |
L87M |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,036,427 (GRCm39) |
S1122G |
probably damaging |
Het |
| Kcnh7 |
T |
A |
2: 63,012,570 (GRCm39) |
D46V |
probably damaging |
Het |
| Kcnn3 |
T |
G |
3: 89,552,830 (GRCm39) |
Y511* |
probably null |
Het |
| Kdm3b |
T |
A |
18: 34,926,058 (GRCm39) |
I66N |
probably damaging |
Het |
| Klk1b27 |
A |
T |
7: 43,703,974 (GRCm39) |
H39L |
probably benign |
Het |
| Kmo |
C |
T |
1: 175,487,261 (GRCm39) |
T404I |
possibly damaging |
Het |
| Krt222 |
C |
T |
11: 99,125,884 (GRCm39) |
|
probably null |
Het |
| Magi3 |
G |
C |
3: 103,923,013 (GRCm39) |
H1235D |
probably benign |
Het |
| Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
| Med15 |
G |
A |
16: 17,470,609 (GRCm39) |
Q583* |
probably null |
Het |
| Mroh2a |
T |
C |
1: 88,184,476 (GRCm39) |
V1453A |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,253,327 (GRCm39) |
M1488V |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,288,645 (GRCm39) |
F1193L |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,742,014 (GRCm39) |
M181K |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,104,616 (GRCm39) |
V796D |
probably damaging |
Het |
| Nr1d1 |
A |
G |
11: 98,661,363 (GRCm39) |
F301S |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 56,105,485 (GRCm39) |
V832I |
probably damaging |
Het |
| Or13a28 |
C |
A |
7: 140,218,346 (GRCm39) |
S244Y |
probably damaging |
Het |
| Or1j14 |
T |
A |
2: 36,418,353 (GRCm39) |
C310S |
probably benign |
Het |
| Or2ak7 |
A |
T |
11: 58,574,830 (GRCm39) |
T44S |
possibly damaging |
Het |
| Or4e1 |
T |
A |
14: 52,701,352 (GRCm39) |
Y38F |
probably damaging |
Het |
| Or8k1 |
T |
A |
2: 86,047,566 (GRCm39) |
T163S |
possibly damaging |
Het |
| Phrf1 |
T |
A |
7: 140,817,586 (GRCm39) |
C132S |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,315,015 (GRCm39) |
|
probably null |
Het |
| Polr2a |
G |
A |
11: 69,635,052 (GRCm39) |
T569M |
probably damaging |
Het |
| Prr29 |
A |
G |
11: 106,267,458 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Sc5d |
T |
C |
9: 42,166,717 (GRCm39) |
E274G |
probably benign |
Het |
| Serpina1d |
A |
T |
12: 103,731,087 (GRCm39) |
|
probably null |
Het |
| Serpinb11 |
T |
A |
1: 107,299,972 (GRCm39) |
I106N |
probably damaging |
Het |
| Setd2 |
G |
A |
9: 110,377,733 (GRCm39) |
R516K |
probably damaging |
Het |
| Sirt2 |
G |
T |
7: 28,487,222 (GRCm39) |
C291F |
probably damaging |
Het |
| Stac3 |
T |
C |
10: 127,344,044 (GRCm39) |
V314A |
probably damaging |
Het |
| Stat6 |
C |
T |
10: 127,493,581 (GRCm39) |
|
probably null |
Het |
| Strn3 |
A |
G |
12: 51,656,890 (GRCm39) |
V712A |
probably damaging |
Het |
| Tmc5 |
G |
T |
7: 118,233,437 (GRCm39) |
G84C |
possibly damaging |
Het |
| Tnik |
C |
A |
3: 28,704,328 (GRCm39) |
L996I |
probably damaging |
Het |
| Trim30d |
G |
T |
7: 104,136,817 (GRCm39) |
T129K |
probably damaging |
Het |
| Triml1 |
G |
T |
8: 43,591,793 (GRCm39) |
Y188* |
probably null |
Het |
| Trpc7 |
A |
G |
13: 56,921,705 (GRCm39) |
Y760H |
probably damaging |
Het |
| Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
| Ubash3a |
A |
T |
17: 31,458,246 (GRCm39) |
Q575L |
possibly damaging |
Het |
| Usp49 |
T |
A |
17: 47,983,827 (GRCm39) |
C61* |
probably null |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,116 (GRCm39) |
V336E |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,324,102 (GRCm39) |
V1135A |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,940,503 (GRCm39) |
V24A |
probably benign |
Het |
| Zfp354c |
A |
G |
11: 50,705,798 (GRCm39) |
Y426H |
probably benign |
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 |
|
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 |
|
R7143:Cfap57
|
UTSW |
4 |
118,477,906 (GRCm39) |
unclassified |
probably benign |
|
|
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'- TTCTTCTGCCACCAAGTCAG -3'
(R):5'- TCCCCAAAGTCCATGGATGTTG -3'
Sequencing Primer
(F):5'- TTCTGCCACCAAGTCAGGTAAATG -3'
(R):5'- CCAAAGTCCATGGATGTTGAGTGG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation