Incidental Mutation 'R7359:Cfap57'
| ID |
571177 |
| 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 |
045445-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7359 (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 A
at 118456162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 511
(T511S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071972]
[ENSMUST00000081921]
|
| AlphaFold |
Q9D180 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071972
AA Change: T511S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: T511S
| 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: T511S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: T511S
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
99% (87/88) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,236,348 (GRCm39) |
V1233A |
possibly damaging |
Het |
| Abcc9 |
G |
A |
6: 142,617,408 (GRCm39) |
T552I |
probably damaging |
Het |
| Adgrf4 |
T |
C |
17: 42,978,003 (GRCm39) |
I447V |
possibly damaging |
Het |
| Akirin2 |
T |
A |
4: 34,565,944 (GRCm39) |
D178E |
probably damaging |
Het |
| Arhgap12 |
T |
C |
18: 6,065,709 (GRCm39) |
E359G |
possibly damaging |
Het |
| Arhgef5 |
A |
C |
6: 43,257,216 (GRCm39) |
T1256P |
probably damaging |
Het |
| Avpr1a |
A |
C |
10: 122,285,283 (GRCm39) |
I192L |
possibly damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,651,197 (GRCm39) |
H926R |
probably damaging |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Ccdc68 |
C |
T |
18: 70,089,123 (GRCm39) |
A222V |
probably benign |
Het |
| Cdc23 |
T |
C |
18: 34,774,394 (GRCm39) |
Y295C |
probably benign |
Het |
| Ceacam10 |
T |
C |
7: 24,480,432 (GRCm39) |
Y188H |
unknown |
Het |
| Cftr |
T |
C |
6: 18,221,623 (GRCm39) |
V245A |
probably benign |
Het |
| Cit |
A |
G |
5: 116,064,633 (GRCm39) |
D505G |
probably damaging |
Het |
| Cmah |
T |
G |
13: 24,652,539 (GRCm39) |
N556K |
probably benign |
Het |
| Cspg4b |
T |
C |
13: 113,478,964 (GRCm39) |
S1503P |
|
Het |
| D430041D05Rik |
C |
A |
2: 104,044,482 (GRCm39) |
D839Y |
probably damaging |
Het |
| Dek |
T |
C |
13: 47,259,065 (GRCm39) |
D47G |
unknown |
Het |
| Des |
C |
T |
1: 75,337,596 (GRCm39) |
R179C |
probably damaging |
Het |
| Desi2 |
A |
G |
1: 178,015,509 (GRCm39) |
N10D |
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,214,615 (GRCm39) |
N679S |
probably damaging |
Het |
| Dnajc24 |
T |
C |
2: 105,832,293 (GRCm39) |
Y30C |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,687,065 (GRCm39) |
H34L |
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,003,337 (GRCm39) |
V1586A |
probably benign |
Het |
| Dpy19l4 |
A |
G |
4: 11,273,125 (GRCm39) |
V576A |
probably benign |
Het |
| Dusp6 |
A |
G |
10: 99,099,927 (GRCm39) |
E125G |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,591,036 (GRCm39) |
Y1035H |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,172,306 (GRCm39) |
|
probably null |
Het |
| En1 |
A |
G |
1: 120,534,817 (GRCm39) |
K369E |
unknown |
Het |
| F2r |
A |
G |
13: 95,741,194 (GRCm39) |
Y114H |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,575,318 (GRCm39) |
Y97C |
probably damaging |
Het |
| Fggy |
T |
C |
4: 95,657,717 (GRCm39) |
V286A |
probably benign |
Het |
| Flot2 |
T |
C |
11: 77,949,383 (GRCm39) |
I322T |
probably benign |
Het |
| Fndc1 |
A |
T |
17: 8,032,318 (GRCm39) |
|
probably null |
Het |
| Frs3 |
A |
G |
17: 48,010,450 (GRCm39) |
D28G |
probably damaging |
Het |
| Gimap3 |
C |
T |
6: 48,742,280 (GRCm39) |
D217N |
probably benign |
Het |
| Gm128 |
A |
G |
3: 95,147,934 (GRCm39) |
V120A |
probably benign |
Het |
| Gm17190 |
T |
C |
13: 96,218,970 (GRCm39) |
V102A |
probably damaging |
Het |
| Gm17268 |
A |
G |
11: 81,919,057 (GRCm39) |
V20A |
unknown |
Het |
| Grsf1 |
A |
T |
5: 88,813,423 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
A |
T |
2: 31,278,395 (GRCm39) |
Y1699F |
probably benign |
Het |
| Hnmt |
T |
A |
2: 23,938,731 (GRCm39) |
M36L |
probably benign |
Het |
| Hoxd1 |
C |
A |
2: 74,594,447 (GRCm39) |
T234K |
probably damaging |
Het |
| Hydin |
C |
G |
8: 111,232,733 (GRCm39) |
S1679R |
probably damaging |
Het |
| Jag1 |
T |
C |
2: 136,926,226 (GRCm39) |
R1059G |
probably benign |
Het |
| Kbtbd11 |
T |
C |
8: 15,078,858 (GRCm39) |
W486R |
probably damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,909,789 (GRCm39) |
D438G |
possibly damaging |
Het |
| Lgals4 |
T |
G |
7: 28,540,724 (GRCm39) |
F276V |
probably benign |
Het |
| Lrp6 |
G |
T |
6: 134,427,923 (GRCm39) |
Y1556* |
probably null |
Het |
| Mpdz |
G |
A |
4: 81,274,632 (GRCm39) |
L855F |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,554,316 (GRCm39) |
D3992E |
unknown |
Het |
| Npc1 |
T |
C |
18: 12,328,237 (GRCm39) |
N1024S |
probably benign |
Het |
| Nsfl1c |
A |
G |
2: 151,336,279 (GRCm39) |
T18A |
probably benign |
Het |
| Or12e8 |
T |
A |
2: 87,188,555 (GRCm39) |
L256I |
possibly damaging |
Het |
| Or12k5 |
A |
T |
2: 36,895,449 (GRCm39) |
M59K |
probably damaging |
Het |
| Or2g7 |
G |
A |
17: 38,378,506 (GRCm39) |
W148* |
probably null |
Het |
| Or8g31-ps1 |
T |
C |
9: 39,276,775 (GRCm39) |
*307R |
probably null |
Het |
| Pcdh15 |
A |
T |
10: 74,420,048 (GRCm39) |
K1235N |
probably damaging |
Het |
| Pcif1 |
A |
G |
2: 164,726,251 (GRCm39) |
K51E |
probably damaging |
Het |
| Pde1b |
G |
A |
15: 103,429,752 (GRCm39) |
D82N |
probably damaging |
Het |
| Phf23 |
T |
A |
11: 69,889,467 (GRCm39) |
V167E |
possibly damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,913,620 (GRCm39) |
V1006A |
unknown |
Het |
| Pira12 |
T |
A |
7: 3,901,103 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
G |
T |
15: 44,452,882 (GRCm39) |
V3936F |
probably damaging |
Het |
| Pnpla1 |
T |
C |
17: 29,100,159 (GRCm39) |
V342A |
probably benign |
Het |
| Ppip5k1 |
T |
C |
2: 121,171,329 (GRCm39) |
D620G |
possibly damaging |
Het |
| Ppl |
A |
G |
16: 4,907,205 (GRCm39) |
L1030P |
possibly damaging |
Het |
| Prelid1 |
A |
T |
13: 55,469,088 (GRCm39) |
|
probably benign |
Het |
| Racgap1 |
C |
T |
15: 99,529,081 (GRCm39) |
S264N |
probably benign |
Het |
| Rdh13 |
T |
C |
7: 4,430,696 (GRCm39) |
D289G |
probably benign |
Het |
| Rtp3 |
T |
C |
9: 110,815,364 (GRCm39) |
I334V |
probably benign |
Het |
| Setd2 |
A |
T |
9: 110,392,012 (GRCm39) |
D200V |
|
Het |
| Simc1 |
A |
G |
13: 54,651,731 (GRCm39) |
S15G |
unknown |
Het |
| Sirpb1c |
A |
T |
3: 15,887,389 (GRCm39) |
M150K |
probably benign |
Het |
| Smoc1 |
T |
A |
12: 81,197,475 (GRCm39) |
D202E |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,860,304 (GRCm39) |
Y59C |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,528,761 (GRCm39) |
T1673A |
probably damaging |
Het |
| Tbc1d31 |
T |
A |
15: 57,779,504 (GRCm39) |
H72Q |
probably benign |
Het |
| Tgfbrap1 |
C |
A |
1: 43,114,693 (GRCm39) |
V136L |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,407,376 (GRCm38) |
N720S |
probably null |
Het |
| Vmn1r11 |
T |
C |
6: 57,115,184 (GRCm39) |
S283P |
probably damaging |
Het |
| Vmn1r19 |
A |
G |
6: 57,382,080 (GRCm39) |
H211R |
probably damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,370,538 (GRCm39) |
M836K |
probably benign |
Het |
| Vmn2r61 |
A |
C |
7: 41,915,407 (GRCm39) |
H118P |
probably benign |
Het |
| Vps33a |
A |
G |
5: 123,696,696 (GRCm39) |
I319T |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,543,220 (GRCm39) |
S151T |
|
Het |
| Zfp423 |
T |
C |
8: 88,508,871 (GRCm39) |
N491S |
possibly damaging |
Het |
| Zfp626 |
T |
C |
7: 27,507,660 (GRCm39) |
F23S |
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 |
|
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 |
|
|
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'- TTCACATGTAATGGTCATGGCC -3'
(R):5'- AACTCTCCTGGAAGAGTGGC -3'
Sequencing Primer
(F):5'- ATGGTCATGGCCATCAGCTCTG -3'
(R):5'- TCCTGGAAGAGTGGCCTTCAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation