Incidental Mutation 'R0690:Cfap57'
| ID |
61326 |
| 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 |
038875-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0690 (G1)
|
| Quality Score |
95 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118411748-118477974 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 118426924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071972]
[ENSMUST00000081921]
|
| AlphaFold |
Q9D180 |
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
97% (87/90) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,860,634 (GRCm39) |
|
probably benign |
Het |
| Abi3 |
T |
C |
11: 95,724,460 (GRCm39) |
|
probably benign |
Het |
| Adam2 |
T |
C |
14: 66,295,095 (GRCm39) |
N250S |
probably damaging |
Het |
| Agbl4 |
T |
A |
4: 111,514,585 (GRCm39) |
I532K |
probably benign |
Het |
| Agrn |
T |
G |
4: 156,258,910 (GRCm39) |
E905A |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,846,742 (GRCm39) |
|
probably benign |
Het |
| Aifm2 |
A |
G |
10: 61,562,231 (GRCm39) |
N89S |
probably benign |
Het |
| Arsj |
C |
T |
3: 126,231,833 (GRCm39) |
T193I |
probably damaging |
Het |
| Ascc2 |
T |
A |
11: 4,632,933 (GRCm39) |
V702E |
probably damaging |
Het |
| Avpr1b |
T |
C |
1: 131,528,019 (GRCm39) |
S181P |
probably damaging |
Het |
| Bcl7a |
G |
A |
5: 123,490,003 (GRCm39) |
V56I |
possibly damaging |
Het |
| Cd160 |
T |
A |
3: 96,713,102 (GRCm39) |
D54V |
probably damaging |
Het |
| Celsr2 |
C |
A |
3: 108,322,293 (GRCm39) |
R173M |
probably damaging |
Het |
| Cfap69 |
G |
A |
5: 5,713,951 (GRCm39) |
T27I |
probably damaging |
Het |
| Chaf1b |
T |
C |
16: 93,696,905 (GRCm39) |
|
probably benign |
Het |
| Cldn8 |
C |
T |
16: 88,359,527 (GRCm39) |
V133M |
probably damaging |
Het |
| Col2a1 |
A |
T |
15: 97,878,073 (GRCm39) |
V954E |
unknown |
Het |
| Col6a4 |
T |
C |
9: 105,905,386 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,586,685 (GRCm39) |
M1779V |
probably benign |
Het |
| Coq8b |
A |
G |
7: 26,941,674 (GRCm39) |
E253G |
probably benign |
Het |
| Ctse |
T |
C |
1: 131,602,516 (GRCm39) |
|
probably benign |
Het |
| Cyp2c29 |
T |
A |
19: 39,298,170 (GRCm39) |
N238K |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,723,848 (GRCm39) |
|
probably benign |
Het |
| Dcc |
A |
T |
18: 71,942,275 (GRCm39) |
|
probably benign |
Het |
| Dkk1 |
A |
G |
19: 30,526,745 (GRCm39) |
F12S |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,106,457 (GRCm39) |
V1760A |
probably benign |
Het |
| Fam117b |
G |
A |
1: 59,997,512 (GRCm39) |
S288N |
possibly damaging |
Het |
| Fam216a |
A |
T |
5: 122,505,709 (GRCm39) |
M110K |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,340,581 (GRCm39) |
I958N |
possibly damaging |
Het |
| Gab1 |
T |
A |
8: 81,526,745 (GRCm39) |
N118Y |
probably damaging |
Het |
| Gda |
T |
A |
19: 21,387,251 (GRCm39) |
I251L |
probably benign |
Het |
| Gli2 |
C |
A |
1: 118,772,190 (GRCm39) |
R505L |
probably damaging |
Het |
| Gm5093 |
A |
T |
17: 46,750,664 (GRCm39) |
I121N |
possibly damaging |
Het |
| Gpnmb |
C |
T |
6: 49,024,949 (GRCm39) |
S327L |
probably benign |
Het |
| Gpr156 |
T |
A |
16: 37,812,503 (GRCm39) |
Y280N |
probably damaging |
Het |
| Gria4 |
A |
G |
9: 4,427,071 (GRCm39) |
Y790H |
probably damaging |
Het |
| Guf1 |
C |
A |
5: 69,723,695 (GRCm39) |
|
probably null |
Het |
| H6pd |
T |
C |
4: 150,067,030 (GRCm39) |
E452G |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,294,120 (GRCm39) |
Y487* |
probably null |
Het |
| Ifi30 |
T |
A |
8: 71,217,593 (GRCm39) |
|
probably benign |
Het |
| Klf13 |
G |
A |
7: 63,587,819 (GRCm39) |
A159V |
possibly damaging |
Het |
| Med11 |
T |
A |
11: 70,344,052 (GRCm39) |
M124K |
possibly damaging |
Het |
| Myom3 |
A |
G |
4: 135,515,737 (GRCm39) |
|
probably benign |
Het |
| Nat2 |
A |
T |
8: 67,954,456 (GRCm39) |
I189F |
probably damaging |
Het |
| Nhlrc4 |
C |
G |
17: 26,162,658 (GRCm39) |
G30R |
probably damaging |
Het |
| Nkx3-2 |
G |
A |
5: 41,919,470 (GRCm39) |
R173C |
probably damaging |
Het |
| Nox3 |
T |
C |
17: 3,745,839 (GRCm39) |
N23S |
probably damaging |
Het |
| Npr2 |
A |
T |
4: 43,646,991 (GRCm39) |
Y708F |
probably damaging |
Het |
| Nsun2 |
A |
G |
13: 69,777,661 (GRCm39) |
N409S |
probably benign |
Het |
| Nucb2 |
T |
C |
7: 116,135,086 (GRCm39) |
|
probably benign |
Het |
| Or13a26 |
T |
C |
7: 140,284,700 (GRCm39) |
F179L |
possibly damaging |
Het |
| Or5be3 |
A |
G |
2: 86,864,226 (GRCm39) |
F113S |
probably damaging |
Het |
| Or8b12 |
T |
C |
9: 37,657,513 (GRCm39) |
F28L |
probably benign |
Het |
| Orai2 |
A |
T |
5: 136,190,453 (GRCm39) |
V52D |
probably damaging |
Het |
| Pcyox1 |
A |
T |
6: 86,371,424 (GRCm39) |
M154K |
probably damaging |
Het |
| Pik3r4 |
C |
A |
9: 105,531,175 (GRCm39) |
T492K |
possibly damaging |
Het |
| Pmpca |
T |
A |
2: 26,281,109 (GRCm39) |
Y150N |
probably damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,803,820 (GRCm39) |
S446R |
probably damaging |
Het |
| Ptpdc1 |
A |
G |
13: 48,740,381 (GRCm39) |
I289T |
probably benign |
Het |
| Pyroxd2 |
A |
G |
19: 42,716,081 (GRCm39) |
|
probably benign |
Het |
| Qrfpr |
G |
A |
3: 36,243,708 (GRCm39) |
T131M |
probably damaging |
Het |
| Rab33b |
A |
G |
3: 51,400,838 (GRCm39) |
Y104C |
probably damaging |
Het |
| Rad54l |
G |
T |
4: 115,956,947 (GRCm39) |
|
probably benign |
Het |
| Rad9a |
A |
T |
19: 4,247,359 (GRCm39) |
|
probably null |
Het |
| Slc1a5 |
A |
T |
7: 16,520,829 (GRCm39) |
M233L |
probably benign |
Het |
| Slc47a2 |
C |
T |
11: 61,233,330 (GRCm39) |
V67I |
possibly damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,214,004 (GRCm39) |
Y39F |
probably benign |
Het |
| Slfn5 |
T |
C |
11: 82,852,229 (GRCm39) |
V785A |
probably damaging |
Het |
| Sp6 |
C |
T |
11: 96,912,370 (GRCm39) |
P28S |
possibly damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,893,156 (GRCm39) |
|
probably null |
Het |
| Sry |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
Y: 2,662,944 (GRCm39) |
|
probably benign |
Het |
| St8sia1 |
A |
G |
6: 142,774,980 (GRCm39) |
W200R |
probably damaging |
Het |
| Stxbp1 |
C |
A |
2: 32,690,707 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
A |
G |
10: 4,983,138 (GRCm39) |
|
probably benign |
Het |
| Thbs3 |
T |
A |
3: 89,127,472 (GRCm39) |
I371N |
possibly damaging |
Het |
| Tll1 |
C |
T |
8: 64,527,324 (GRCm39) |
S399N |
probably damaging |
Het |
| Tmem209 |
A |
C |
6: 30,505,833 (GRCm39) |
C114G |
probably null |
Het |
| Tmem25 |
C |
T |
9: 44,706,811 (GRCm39) |
|
probably benign |
Het |
| Tmem8b |
T |
C |
4: 43,674,562 (GRCm39) |
I282T |
possibly damaging |
Het |
| Trdmt1 |
T |
A |
2: 13,549,391 (GRCm39) |
H18L |
probably benign |
Het |
| Trim63 |
A |
G |
4: 134,043,716 (GRCm39) |
T60A |
probably benign |
Het |
| Trpv2 |
T |
C |
11: 62,475,502 (GRCm39) |
|
probably null |
Het |
| Ubr2 |
A |
T |
17: 47,249,579 (GRCm39) |
I1591K |
probably damaging |
Het |
| Use1 |
A |
T |
8: 71,819,709 (GRCm39) |
|
probably benign |
Het |
| Zfp850 |
A |
T |
7: 27,684,642 (GRCm39) |
C35S |
possibly 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 |
|
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 |
|
|
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'- TTCTTGAGCGTGGCAAGGTTCC -3'
(R):5'- CCCAGGCAGGTACACAAGCATTTC -3'
Sequencing Primer
(F):5'- TGGCAAGGTTCCTCTCCAG -3'
(R):5'- ATTTCAGAACGGCGACCTTTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation