Incidental Mutation 'R1538:Cfap46'
| ID |
169696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap46
|
| Ensembl Gene |
ENSMUSG00000049571 |
| Gene Name |
cilia and flagella associated protein 46 |
| Synonyms |
9330101J02Rik, Ttc40 |
| MMRRC Submission |
039577-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1538 (G1)
|
| Quality Score |
198 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
139180867-139263733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139262924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 43
(N43I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000129990]
[ENSMUST00000130453]
[ENSMUST00000140820]
|
| AlphaFold |
E9Q2C0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129990
AA Change: N101I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120186
Gene: ENSMUSG00000049571
AA Change: N101I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
175 |
207 |
7e-11 |
BLAST |
|
Blast:TPR
|
426 |
459 |
1e-11 |
BLAST |
|
low complexity region
|
868 |
879 |
N/A |
INTRINSIC |
|
Blast:TPR
|
936 |
969 |
2e-7 |
BLAST |
|
Blast:TPR
|
1112 |
1145 |
1e-9 |
BLAST |
|
coiled coil region
|
1347 |
1423 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000130453
AA Change: N43I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000115437
Gene: ENSMUSG00000049571
AA Change: N43I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
116 |
149 |
1e-11 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138129
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140820
AA Change: N101I
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121085
Gene: ENSMUSG00000049571
AA Change: N101I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
175 |
208 |
5e-11 |
BLAST |
|
Blast:TPR
|
426 |
459 |
8e-12 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156116
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 104 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
T |
3: 137,771,162 (GRCm39) |
R117L |
probably benign |
Het |
| 4930447C04Rik |
G |
A |
12: 72,928,120 (GRCm39) |
A537V |
possibly damaging |
Het |
| 4930579F01Rik |
A |
C |
3: 137,889,517 (GRCm39) |
D33E |
probably damaging |
Het |
| Acnat1 |
T |
C |
4: 49,447,835 (GRCm39) |
K249E |
possibly damaging |
Het |
| Ankrd13a |
T |
C |
5: 114,942,295 (GRCm39) |
I526T |
possibly damaging |
Het |
| Aplp1 |
C |
A |
7: 30,135,452 (GRCm39) |
E535D |
probably benign |
Het |
| Armc8 |
T |
A |
9: 99,387,343 (GRCm39) |
H425L |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Asprv1 |
C |
T |
6: 86,605,618 (GRCm39) |
Q155* |
probably null |
Het |
| Atl1 |
A |
G |
12: 69,972,962 (GRCm39) |
Q94R |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,595,440 (GRCm39) |
L970P |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,973,772 (GRCm39) |
M2514T |
probably benign |
Het |
| Cacfd1 |
T |
A |
2: 26,908,951 (GRCm39) |
D97E |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,437,504 (GRCm39) |
L344P |
probably damaging |
Het |
| Cacna2d2 |
C |
A |
9: 107,394,615 (GRCm39) |
R596S |
probably damaging |
Het |
| Catip |
C |
A |
1: 74,403,811 (GRCm39) |
S176* |
probably null |
Het |
| Cdcp1 |
G |
A |
9: 123,002,653 (GRCm39) |
S806L |
probably damaging |
Het |
| Cdk6 |
A |
T |
5: 3,570,675 (GRCm39) |
I289L |
probably benign |
Het |
| Cers3 |
C |
T |
7: 66,431,571 (GRCm39) |
T182I |
probably damaging |
Het |
| Clec4n |
A |
T |
6: 123,206,992 (GRCm39) |
R5S |
possibly damaging |
Het |
| Cnr2 |
G |
T |
4: 135,644,012 (GRCm39) |
S30I |
probably benign |
Het |
| Col18a1 |
C |
T |
10: 76,907,170 (GRCm39) |
G870E |
probably damaging |
Het |
| Cpne6 |
T |
C |
14: 55,752,677 (GRCm39) |
V289A |
possibly damaging |
Het |
| Crym |
G |
A |
7: 119,796,938 (GRCm39) |
L141F |
probably benign |
Het |
| Cxxc5 |
T |
C |
18: 35,991,622 (GRCm39) |
S8P |
unknown |
Het |
| Dido1 |
A |
C |
2: 180,326,763 (GRCm39) |
S453R |
possibly damaging |
Het |
| Dnah2 |
A |
C |
11: 69,368,028 (GRCm39) |
S1770R |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,535,148 (GRCm39) |
V2704A |
possibly damaging |
Het |
| Eml5 |
T |
C |
12: 98,760,535 (GRCm39) |
N1738S |
probably damaging |
Het |
| Eri3 |
A |
G |
4: 117,439,836 (GRCm39) |
T138A |
possibly damaging |
Het |
| Ext2 |
C |
T |
2: 93,537,632 (GRCm39) |
E585K |
probably damaging |
Het |
| Fbxw19 |
T |
A |
9: 109,324,056 (GRCm39) |
S38C |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,854,917 (GRCm39) |
I1848F |
probably damaging |
Het |
| Fmo6 |
G |
A |
1: 162,753,675 (GRCm39) |
P156S |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,339,764 (GRCm39) |
I686F |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,339,339 (GRCm39) |
L544P |
probably damaging |
Het |
| Gabra1 |
T |
C |
11: 42,031,177 (GRCm39) |
Y251C |
probably benign |
Het |
| Gemin4 |
G |
T |
11: 76,101,987 (GRCm39) |
Q925K |
probably benign |
Het |
| Gm18856 |
T |
A |
13: 14,139,274 (GRCm39) |
|
probably benign |
Het |
| Gnb1 |
A |
T |
4: 155,636,171 (GRCm39) |
T164S |
probably benign |
Het |
| Gpx6 |
A |
G |
13: 21,497,822 (GRCm39) |
D31G |
possibly damaging |
Het |
| Gzmd |
A |
C |
14: 56,367,802 (GRCm39) |
I157S |
probably benign |
Het |
| Il31ra |
T |
A |
13: 112,684,000 (GRCm39) |
N43I |
possibly damaging |
Het |
| Irak3 |
T |
C |
10: 120,001,035 (GRCm39) |
T297A |
probably benign |
Het |
| Kank2 |
T |
C |
9: 21,685,927 (GRCm39) |
D649G |
probably damaging |
Het |
| Kif3b |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
2: 153,159,382 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl18 |
A |
G |
9: 110,275,815 (GRCm39) |
F111S |
probably damaging |
Het |
| Lratd2 |
A |
G |
15: 60,695,498 (GRCm39) |
C83R |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,697,585 (GRCm39) |
S319P |
possibly damaging |
Het |
| Mettl15 |
T |
C |
2: 108,962,010 (GRCm39) |
|
probably null |
Het |
| Mtarc1 |
T |
C |
1: 184,534,199 (GRCm39) |
E223G |
probably damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,320,748 (GRCm39) |
Q1107R |
possibly damaging |
Het |
| Ncoa7 |
T |
G |
10: 30,570,207 (GRCm39) |
M251L |
probably damaging |
Het |
| Nos2 |
A |
T |
11: 78,847,396 (GRCm39) |
M1023L |
probably benign |
Het |
| Nup107 |
T |
C |
10: 117,626,399 (GRCm39) |
K25E |
probably damaging |
Het |
| Or10q1b |
A |
T |
19: 13,682,860 (GRCm39) |
Y223F |
probably damaging |
Het |
| Or52s1b |
A |
G |
7: 102,822,193 (GRCm39) |
I217T |
probably damaging |
Het |
| Or5k14 |
T |
A |
16: 58,693,261 (GRCm39) |
N84I |
probably damaging |
Het |
| Or5p58 |
T |
A |
7: 107,694,493 (GRCm39) |
I95F |
probably damaging |
Het |
| Or6b6 |
A |
T |
7: 106,571,190 (GRCm39) |
Y120* |
probably null |
Het |
| Or6c206 |
T |
C |
10: 129,097,082 (GRCm39) |
I84T |
probably damaging |
Het |
| Parm1 |
G |
A |
5: 91,742,306 (GRCm39) |
E225K |
possibly damaging |
Het |
| Pdzd2 |
A |
C |
15: 12,373,047 (GRCm39) |
S2363A |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,218,142 (GRCm39) |
L1199P |
probably damaging |
Het |
| Prpsap1 |
A |
T |
11: 116,370,534 (GRCm39) |
M141K |
probably benign |
Het |
| Prss29 |
A |
T |
17: 25,539,257 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pter |
T |
A |
2: 12,983,417 (GRCm39) |
S141T |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,501,662 (GRCm39) |
D1181E |
probably damaging |
Het |
| Rab3ip |
T |
A |
10: 116,775,159 (GRCm39) |
Q66H |
probably damaging |
Het |
| Rgs12 |
A |
T |
5: 35,178,511 (GRCm39) |
T779S |
probably damaging |
Het |
| Rgs22 |
A |
G |
15: 36,048,922 (GRCm39) |
F786S |
probably damaging |
Het |
| Rnasel |
A |
T |
1: 153,636,540 (GRCm39) |
D640V |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,415,899 (GRCm39) |
T1738A |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,447,508 (GRCm39) |
S3185P |
probably damaging |
Het |
| Scnn1a |
T |
A |
6: 125,315,856 (GRCm39) |
D321E |
possibly damaging |
Het |
| Sec31b |
G |
C |
19: 44,507,025 (GRCm39) |
L1014V |
probably benign |
Het |
| Serpinb10 |
A |
G |
1: 107,468,690 (GRCm39) |
Y111C |
probably damaging |
Het |
| Shld2 |
C |
G |
14: 33,990,833 (GRCm39) |
Q24H |
probably damaging |
Het |
| Siglecg |
A |
G |
7: 43,067,313 (GRCm39) |
K627E |
possibly damaging |
Het |
| Sigmar1 |
T |
C |
4: 41,740,845 (GRCm39) |
I95V |
probably benign |
Het |
| Sirpb1b |
T |
A |
3: 15,613,819 (GRCm39) |
T88S |
possibly damaging |
Het |
| Spire2 |
T |
G |
8: 124,084,895 (GRCm39) |
L245R |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,527,192 (GRCm39) |
P1150T |
probably benign |
Het |
| Stat6 |
C |
A |
10: 127,489,125 (GRCm39) |
T380N |
probably damaging |
Het |
| Sult3a1 |
G |
A |
10: 33,746,166 (GRCm39) |
G162E |
probably benign |
Het |
| Surf4 |
T |
C |
2: 26,823,710 (GRCm39) |
|
probably null |
Het |
| Tacc2 |
T |
C |
7: 130,227,149 (GRCm39) |
M1278T |
probably benign |
Het |
| Tacr2 |
T |
A |
10: 62,097,106 (GRCm39) |
|
probably null |
Het |
| Tcaf1 |
A |
T |
6: 42,655,923 (GRCm39) |
V351E |
probably damaging |
Het |
| Tmcc2 |
A |
G |
1: 132,308,718 (GRCm39) |
S59P |
probably damaging |
Het |
| Tmem17 |
G |
A |
11: 22,467,266 (GRCm39) |
S60N |
possibly damaging |
Het |
| Tmem63b |
C |
G |
17: 45,989,904 (GRCm39) |
R88P |
possibly damaging |
Het |
| Tmprss7 |
A |
T |
16: 45,499,753 (GRCm39) |
I307N |
probably benign |
Het |
| Treml2 |
A |
T |
17: 48,609,786 (GRCm39) |
T73S |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,774,012 (GRCm39) |
H2876R |
possibly damaging |
Het |
| Tyw3 |
A |
G |
3: 154,302,506 (GRCm39) |
I53T |
probably damaging |
Het |
| Ugp2 |
A |
G |
11: 21,283,791 (GRCm39) |
I92T |
possibly damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,166 (GRCm39) |
M748K |
possibly damaging |
Het |
| Vmn2r82 |
T |
C |
10: 79,192,578 (GRCm39) |
S52P |
possibly damaging |
Het |
| Wdr37 |
A |
T |
13: 8,886,828 (GRCm39) |
S320T |
probably benign |
Het |
| Zbtb16 |
A |
T |
9: 48,743,583 (GRCm39) |
M243K |
probably benign |
Het |
| Zfr |
C |
T |
15: 12,150,329 (GRCm39) |
T432I |
possibly damaging |
Het |
|
| Other mutations in Cfap46 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00480:Cfap46
|
APN |
7 |
139,240,605 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00493:Cfap46
|
APN |
7 |
139,194,359 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL00505:Cfap46
|
APN |
7 |
139,240,605 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00508:Cfap46
|
APN |
7 |
139,240,605 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00514:Cfap46
|
APN |
7 |
139,240,605 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01394:Cfap46
|
APN |
7 |
139,246,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01621:Cfap46
|
APN |
7 |
139,186,523 (GRCm39) |
missense |
unknown |
|
|
IGL02171:Cfap46
|
APN |
7 |
139,246,972 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02343:Cfap46
|
APN |
7 |
139,262,425 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02679:Cfap46
|
APN |
7 |
139,194,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02687:Cfap46
|
APN |
7 |
139,187,117 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03180:Cfap46
|
APN |
7 |
139,183,168 (GRCm39) |
missense |
unknown |
|
|
IGL03329:Cfap46
|
APN |
7 |
139,181,081 (GRCm39) |
missense |
probably damaging |
0.99 |
|
FR4449:Cfap46
|
UTSW |
7 |
139,218,711 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4737:Cfap46
|
UTSW |
7 |
139,218,846 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4976:Cfap46
|
UTSW |
7 |
139,218,846 (GRCm39) |
utr 3 prime |
probably benign |
|
|
PIT4651001:Cfap46
|
UTSW |
7 |
139,225,467 (GRCm39) |
missense |
|
|
|
R0051:Cfap46
|
UTSW |
7 |
139,255,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0051:Cfap46
|
UTSW |
7 |
139,255,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0318:Cfap46
|
UTSW |
7 |
139,234,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0358:Cfap46
|
UTSW |
7 |
139,231,449 (GRCm39) |
splice site |
probably benign |
|
|
R0650:Cfap46
|
UTSW |
7 |
139,185,571 (GRCm39) |
missense |
unknown |
|
|
R0675:Cfap46
|
UTSW |
7 |
139,255,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0750:Cfap46
|
UTSW |
7 |
139,234,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0931:Cfap46
|
UTSW |
7 |
139,235,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1024:Cfap46
|
UTSW |
7 |
139,222,513 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1251:Cfap46
|
UTSW |
7 |
139,181,181 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1257:Cfap46
|
UTSW |
7 |
139,234,545 (GRCm39) |
nonsense |
probably null |
|
|
R1618:Cfap46
|
UTSW |
7 |
139,232,726 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1655:Cfap46
|
UTSW |
7 |
139,222,436 (GRCm39) |
nonsense |
probably null |
|
|
R1824:Cfap46
|
UTSW |
7 |
139,219,518 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1830:Cfap46
|
UTSW |
7 |
139,220,323 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1857:Cfap46
|
UTSW |
7 |
139,233,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1870:Cfap46
|
UTSW |
7 |
139,263,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1945:Cfap46
|
UTSW |
7 |
139,259,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Cfap46
|
UTSW |
7 |
139,246,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2108:Cfap46
|
UTSW |
7 |
139,263,677 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2354:Cfap46
|
UTSW |
7 |
139,240,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2367:Cfap46
|
UTSW |
7 |
139,233,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3237:Cfap46
|
UTSW |
7 |
139,197,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3617:Cfap46
|
UTSW |
7 |
139,219,515 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3949:Cfap46
|
UTSW |
7 |
139,258,467 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4239:Cfap46
|
UTSW |
7 |
139,246,203 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4240:Cfap46
|
UTSW |
7 |
139,246,203 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4297:Cfap46
|
UTSW |
7 |
139,232,589 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4365:Cfap46
|
UTSW |
7 |
139,230,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4516:Cfap46
|
UTSW |
7 |
139,239,998 (GRCm39) |
intron |
probably benign |
|
|
R4595:Cfap46
|
UTSW |
7 |
139,232,320 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4627:Cfap46
|
UTSW |
7 |
139,260,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Cfap46
|
UTSW |
7 |
139,237,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4628:Cfap46
|
UTSW |
7 |
139,260,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4629:Cfap46
|
UTSW |
7 |
139,260,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4687:Cfap46
|
UTSW |
7 |
139,207,372 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4750:Cfap46
|
UTSW |
7 |
139,259,239 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4771:Cfap46
|
UTSW |
7 |
139,210,524 (GRCm39) |
missense |
probably null |
|
|
R4779:Cfap46
|
UTSW |
7 |
139,239,731 (GRCm39) |
intron |
probably benign |
|
|
R4812:Cfap46
|
UTSW |
7 |
139,215,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Cfap46
|
UTSW |
7 |
139,187,104 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5014:Cfap46
|
UTSW |
7 |
139,207,291 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5033:Cfap46
|
UTSW |
7 |
139,183,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5055:Cfap46
|
UTSW |
7 |
139,241,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5254:Cfap46
|
UTSW |
7 |
139,258,430 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5288:Cfap46
|
UTSW |
7 |
139,193,423 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5366:Cfap46
|
UTSW |
7 |
139,230,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5368:Cfap46
|
UTSW |
7 |
139,207,389 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5371:Cfap46
|
UTSW |
7 |
139,212,097 (GRCm39) |
splice site |
probably null |
|
|
R5642:Cfap46
|
UTSW |
7 |
139,258,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5690:Cfap46
|
UTSW |
7 |
139,218,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5691:Cfap46
|
UTSW |
7 |
139,186,616 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5696:Cfap46
|
UTSW |
7 |
139,191,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5844:Cfap46
|
UTSW |
7 |
139,230,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5963:Cfap46
|
UTSW |
7 |
139,231,511 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6217:Cfap46
|
UTSW |
7 |
139,218,816 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6228:Cfap46
|
UTSW |
7 |
139,236,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6251:Cfap46
|
UTSW |
7 |
139,218,816 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6253:Cfap46
|
UTSW |
7 |
139,218,816 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6285:Cfap46
|
UTSW |
7 |
139,241,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6334:Cfap46
|
UTSW |
7 |
139,260,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6520:Cfap46
|
UTSW |
7 |
139,194,321 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6736:Cfap46
|
UTSW |
7 |
139,199,887 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6760:Cfap46
|
UTSW |
7 |
139,232,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6773:Cfap46
|
UTSW |
7 |
139,222,477 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6835:Cfap46
|
UTSW |
7 |
139,232,414 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6903:Cfap46
|
UTSW |
7 |
139,234,477 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6912:Cfap46
|
UTSW |
7 |
139,219,616 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7163:Cfap46
|
UTSW |
7 |
139,197,994 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7232:Cfap46
|
UTSW |
7 |
139,197,493 (GRCm39) |
missense |
unknown |
|
|
R7327:Cfap46
|
UTSW |
7 |
139,215,062 (GRCm39) |
splice site |
probably null |
|
|
R7336:Cfap46
|
UTSW |
7 |
139,200,020 (GRCm39) |
missense |
unknown |
|
|
R7337:Cfap46
|
UTSW |
7 |
139,210,492 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7437:Cfap46
|
UTSW |
7 |
139,230,753 (GRCm39) |
nonsense |
probably null |
|
|
R7450:Cfap46
|
UTSW |
7 |
139,197,353 (GRCm39) |
missense |
unknown |
|
|
R7495:Cfap46
|
UTSW |
7 |
139,183,112 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7618:Cfap46
|
UTSW |
7 |
139,183,155 (GRCm39) |
missense |
|
|
|
R7623:Cfap46
|
UTSW |
7 |
139,198,266 (GRCm39) |
missense |
unknown |
|
|
R7765:Cfap46
|
UTSW |
7 |
139,231,480 (GRCm39) |
missense |
|
|
|
R7971:Cfap46
|
UTSW |
7 |
139,215,043 (GRCm39) |
missense |
unknown |
|
|
R8211:Cfap46
|
UTSW |
7 |
139,213,220 (GRCm39) |
missense |
unknown |
|
|
R8306:Cfap46
|
UTSW |
7 |
139,236,496 (GRCm39) |
missense |
|
|
|
R8354:Cfap46
|
UTSW |
7 |
139,233,414 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8365:Cfap46
|
UTSW |
7 |
139,263,000 (GRCm39) |
nonsense |
probably null |
|
|
R8447:Cfap46
|
UTSW |
7 |
139,260,902 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8715:Cfap46
|
UTSW |
7 |
139,185,560 (GRCm39) |
missense |
|
|
|
R8805:Cfap46
|
UTSW |
7 |
139,211,979 (GRCm39) |
missense |
unknown |
|
|
R8830:Cfap46
|
UTSW |
7 |
139,195,565 (GRCm39) |
missense |
unknown |
|
|
R8912:Cfap46
|
UTSW |
7 |
139,260,097 (GRCm39) |
intron |
probably benign |
|
|
R8920:Cfap46
|
UTSW |
7 |
139,232,442 (GRCm39) |
missense |
|
|
|
R8977:Cfap46
|
UTSW |
7 |
139,259,849 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9048:Cfap46
|
UTSW |
7 |
139,207,259 (GRCm39) |
missense |
unknown |
|
|
R9224:Cfap46
|
UTSW |
7 |
139,258,416 (GRCm39) |
nonsense |
probably null |
|
|
R9243:Cfap46
|
UTSW |
7 |
139,195,265 (GRCm39) |
intron |
probably benign |
|
|
R9252:Cfap46
|
UTSW |
7 |
139,198,165 (GRCm39) |
missense |
unknown |
|
|
R9276:Cfap46
|
UTSW |
7 |
139,201,207 (GRCm39) |
missense |
unknown |
|
|
R9301:Cfap46
|
UTSW |
7 |
139,222,461 (GRCm39) |
missense |
|
|
|
R9391:Cfap46
|
UTSW |
7 |
139,198,027 (GRCm39) |
missense |
unknown |
|
|
R9402:Cfap46
|
UTSW |
7 |
139,215,865 (GRCm39) |
missense |
unknown |
|
|
R9443:Cfap46
|
UTSW |
7 |
139,195,023 (GRCm39) |
missense |
|
|
|
R9564:Cfap46
|
UTSW |
7 |
139,231,471 (GRCm39) |
missense |
|
|
|
R9625:Cfap46
|
UTSW |
7 |
139,230,805 (GRCm39) |
missense |
|
|
|
R9626:Cfap46
|
UTSW |
7 |
139,230,805 (GRCm39) |
missense |
|
|
|
R9638:Cfap46
|
UTSW |
7 |
139,209,763 (GRCm39) |
missense |
unknown |
|
|
R9656:Cfap46
|
UTSW |
7 |
139,235,816 (GRCm39) |
missense |
|
|
|
R9658:Cfap46
|
UTSW |
7 |
139,246,229 (GRCm39) |
missense |
|
|
|
R9747:Cfap46
|
UTSW |
7 |
139,191,907 (GRCm39) |
missense |
unknown |
|
|
RF023:Cfap46
|
UTSW |
7 |
139,218,834 (GRCm39) |
|
|
|
|
W0251:Cfap46
|
UTSW |
7 |
139,183,862 (GRCm39) |
missense |
probably benign |
0.11 |
|
X0018:Cfap46
|
UTSW |
7 |
139,260,828 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0064:Cfap46
|
UTSW |
7 |
139,183,363 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Cfap46
|
UTSW |
7 |
139,214,980 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Cfap46
|
UTSW |
7 |
139,219,464 (GRCm39) |
missense |
|
|
|
Z1177:Cfap46
|
UTSW |
7 |
139,210,542 (GRCm39) |
missense |
unknown |
|
|
Z1177:Cfap46
|
UTSW |
7 |
139,181,183 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACAAATGGGAACTGCCGATG -3'
(R):5'- TTTGGGTGTAAACGGCACAGGG -3'
Sequencing Primer
(F):5'- GCCGATGTTTTTTGCATCACTG -3'
(R):5'- CAGAGCGCCTTCATCCTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation