Incidental Mutation 'R1824:Cfap46'
| ID |
206677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap46
|
| Ensembl Gene |
ENSMUSG00000049571 |
| Gene Name |
cilia and flagella associated protein 46 |
| Synonyms |
9330101J02Rik, Ttc40 |
| MMRRC Submission |
039852-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1824 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
139180867-139263733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 139219518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 1316
(A1316S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000129990]
[ENSMUST00000140820]
[ENSMUST00000155075]
|
| AlphaFold |
E9Q2C0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129990
AA Change: A1316S
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000120186
Gene: ENSMUSG00000049571
AA Change: A1316S
| 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 benign
Transcript: ENSMUST00000140820
|
| SMART Domains |
Protein: ENSMUSP00000121085
Gene: ENSMUSG00000049571
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
175 |
208 |
5e-11 |
BLAST |
|
Blast:TPR
|
426 |
459 |
8e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155075
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
T |
C |
10: 70,708,086 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2fm1 |
C |
A |
3: 59,840,001 (GRCm39) |
Y24* |
probably null |
Het |
| Abl1 |
T |
A |
2: 31,690,656 (GRCm39) |
M706K |
probably benign |
Het |
| Abtb1 |
T |
C |
6: 88,813,536 (GRCm39) |
T401A |
probably benign |
Het |
| Acd |
A |
G |
8: 106,427,122 (GRCm39) |
L96P |
probably damaging |
Het |
| Arsi |
T |
A |
18: 61,045,369 (GRCm39) |
W20R |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Asic3 |
C |
T |
5: 24,618,749 (GRCm39) |
Q14* |
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,655,125 (GRCm39) |
I1045N |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,818,474 (GRCm39) |
I2149T |
probably damaging |
Het |
| Begain |
A |
G |
12: 108,999,025 (GRCm39) |
|
probably null |
Het |
| Brca2 |
C |
T |
5: 150,460,387 (GRCm39) |
T554I |
possibly damaging |
Het |
| Brd10 |
T |
C |
19: 29,693,814 (GRCm39) |
N1960S |
probably damaging |
Het |
| C1s2 |
C |
T |
6: 124,612,641 (GRCm39) |
V11I |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,260,990 (GRCm39) |
F1333L |
possibly damaging |
Het |
| Camsap2 |
T |
C |
1: 136,201,521 (GRCm39) |
T662A |
possibly damaging |
Het |
| Cep164 |
C |
T |
9: 45,690,226 (GRCm39) |
V1367M |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,987,691 (GRCm39) |
S553P |
probably damaging |
Het |
| Cilk1 |
T |
A |
9: 78,065,144 (GRCm39) |
D351E |
probably benign |
Het |
| Clcn2 |
C |
T |
16: 20,534,712 (GRCm39) |
A12T |
probably benign |
Het |
| Clip2 |
A |
G |
5: 134,532,081 (GRCm39) |
Y540H |
probably benign |
Het |
| Coil |
A |
G |
11: 88,872,923 (GRCm39) |
N428S |
possibly damaging |
Het |
| Cpxm1 |
A |
C |
2: 130,237,617 (GRCm39) |
V196G |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,839,624 (GRCm39) |
V601A |
probably damaging |
Het |
| Cyp3a25 |
T |
A |
5: 145,921,763 (GRCm39) |
K390N |
probably damaging |
Het |
| Dclre1a |
T |
C |
19: 56,535,150 (GRCm39) |
|
probably null |
Het |
| Dennd4a |
G |
C |
9: 64,766,640 (GRCm39) |
|
probably null |
Het |
| Dlg5 |
T |
C |
14: 24,199,512 (GRCm39) |
H1464R |
probably benign |
Het |
| Dmac2 |
T |
G |
7: 25,324,217 (GRCm39) |
M225R |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,950,154 (GRCm39) |
V1991A |
possibly damaging |
Het |
| Dscam |
A |
C |
16: 96,626,781 (GRCm39) |
V376G |
probably benign |
Het |
| Dync1li1 |
A |
G |
9: 114,538,252 (GRCm39) |
D203G |
probably benign |
Het |
| Eva1c |
A |
G |
16: 90,663,331 (GRCm39) |
T22A |
probably benign |
Het |
| Fam110b |
A |
G |
4: 5,799,029 (GRCm39) |
D149G |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,918,547 (GRCm39) |
I3528F |
probably damaging |
Het |
| Fsip1 |
T |
C |
2: 118,063,389 (GRCm39) |
D360G |
probably damaging |
Het |
| Galnt14 |
T |
C |
17: 74,016,934 (GRCm39) |
T41A |
probably benign |
Het |
| Gdf3 |
T |
A |
6: 122,586,921 (GRCm39) |
Q2L |
probably benign |
Het |
| Glrp1 |
A |
G |
1: 88,437,511 (GRCm39) |
|
probably null |
Het |
| Gm3336 |
C |
G |
8: 71,173,066 (GRCm39) |
|
probably null |
Het |
| Gm8674 |
C |
T |
13: 50,054,844 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat1 |
A |
G |
9: 107,553,774 (GRCm39) |
Y226H |
probably damaging |
Het |
| Grk5 |
T |
C |
19: 61,078,410 (GRCm39) |
V489A |
probably damaging |
Het |
| H1f8 |
A |
G |
6: 115,925,719 (GRCm39) |
Y1C |
probably null |
Het |
| Igfbpl1 |
C |
A |
4: 45,826,406 (GRCm39) |
A130S |
probably benign |
Het |
| Impdh1 |
T |
A |
6: 29,205,087 (GRCm39) |
D261V |
probably benign |
Het |
| Itgal |
T |
A |
7: 126,913,232 (GRCm39) |
S610T |
probably damaging |
Het |
| Jcad |
A |
G |
18: 4,649,293 (GRCm39) |
T55A |
probably benign |
Het |
| Jup |
G |
A |
11: 100,264,963 (GRCm39) |
R663* |
probably null |
Het |
| Kalrn |
C |
T |
16: 34,114,585 (GRCm39) |
G556D |
probably damaging |
Het |
| Krt81 |
T |
C |
15: 101,358,020 (GRCm39) |
E411G |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,520 (GRCm39) |
E334G |
probably damaging |
Het |
| Lhcgr |
T |
C |
17: 89,057,585 (GRCm39) |
E302G |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,676,620 (GRCm39) |
V913A |
possibly damaging |
Het |
| Mrpl19 |
A |
T |
6: 81,941,060 (GRCm39) |
|
probably null |
Het |
| Muc4 |
G |
T |
16: 32,576,307 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,489,945 (GRCm39) |
V953A |
possibly damaging |
Het |
| Myo3a |
G |
A |
2: 22,401,054 (GRCm39) |
V600I |
probably benign |
Het |
| Ndufv3 |
G |
A |
17: 31,750,219 (GRCm39) |
R467Q |
probably damaging |
Het |
| Ngef |
A |
G |
1: 87,430,986 (GRCm39) |
|
probably null |
Het |
| Nisch |
A |
T |
14: 30,898,389 (GRCm39) |
|
probably benign |
Het |
| Nlrp4c |
G |
A |
7: 6,069,955 (GRCm39) |
|
probably null |
Het |
| Nup153 |
A |
T |
13: 46,867,223 (GRCm39) |
S154T |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,885,658 (GRCm39) |
|
probably benign |
Het |
| Or2t1 |
T |
A |
14: 14,328,774 (GRCm38) |
L221Q |
probably damaging |
Het |
| Or4a74 |
G |
T |
2: 89,439,693 (GRCm39) |
P251H |
probably damaging |
Het |
| Or6c219 |
T |
C |
10: 129,781,206 (GRCm39) |
M242V |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,615,692 (GRCm39) |
N1869S |
probably benign |
Het |
| Phf24 |
G |
T |
4: 42,934,661 (GRCm39) |
C136F |
probably damaging |
Het |
| Phldb2 |
A |
T |
16: 45,646,374 (GRCm39) |
V65E |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,417,681 (GRCm39) |
G2490V |
probably damaging |
Het |
| Prl8a8 |
A |
T |
13: 27,692,433 (GRCm39) |
M186K |
probably damaging |
Het |
| Qars1 |
T |
C |
9: 108,391,809 (GRCm39) |
V70A |
probably damaging |
Het |
| Rac1 |
C |
T |
5: 143,502,980 (GRCm39) |
V14I |
probably benign |
Het |
| Rapgef5 |
T |
A |
12: 117,652,419 (GRCm39) |
|
probably null |
Het |
| Slc16a12 |
G |
A |
19: 34,648,278 (GRCm39) |
T405M |
possibly damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,311,294 (GRCm39) |
Y336C |
probably damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,505,395 (GRCm39) |
L441P |
probably damaging |
Het |
| Slc45a2 |
T |
C |
15: 11,022,172 (GRCm39) |
S305P |
probably damaging |
Het |
| Sod3 |
G |
T |
5: 52,525,504 (GRCm39) |
V68L |
probably benign |
Het |
| Sp1 |
T |
G |
15: 102,339,438 (GRCm39) |
S773A |
possibly damaging |
Het |
| Spen |
C |
A |
4: 141,200,096 (GRCm39) |
G2821C |
probably damaging |
Het |
| Tagap1 |
A |
G |
17: 7,223,425 (GRCm39) |
S424P |
probably benign |
Het |
| Tbc1d22a |
T |
C |
15: 86,119,770 (GRCm39) |
V22A |
possibly damaging |
Het |
| Tfec |
C |
T |
6: 16,840,467 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
A |
T |
6: 12,409,041 (GRCm39) |
|
probably null |
Het |
| Tnfsf15 |
C |
A |
4: 63,651,588 (GRCm39) |
G112V |
probably benign |
Het |
| Tnfsf9 |
A |
G |
17: 57,412,738 (GRCm39) |
T103A |
probably benign |
Het |
| Tnxb |
C |
T |
17: 34,911,307 (GRCm39) |
R1537* |
probably null |
Het |
| Tpra1 |
A |
G |
6: 88,888,805 (GRCm39) |
N329S |
probably benign |
Het |
| Ttc12 |
A |
G |
9: 49,368,184 (GRCm39) |
F281S |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,025,579 (GRCm39) |
N322S |
probably damaging |
Het |
| Unk |
G |
T |
11: 115,921,268 (GRCm39) |
|
probably benign |
Het |
| Usp4 |
G |
T |
9: 108,225,207 (GRCm39) |
G31W |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,853,331 (GRCm39) |
A543D |
possibly damaging |
Het |
| Vil1 |
A |
C |
1: 74,457,606 (GRCm39) |
I80L |
probably benign |
Het |
| Vmn2r27 |
C |
T |
6: 124,208,593 (GRCm39) |
G51S |
probably benign |
Het |
| Vpreb1a |
A |
G |
16: 16,686,935 (GRCm39) |
|
probably null |
Het |
| Zbtb6 |
C |
T |
2: 37,319,829 (GRCm39) |
C33Y |
probably damaging |
Het |
| Zfp330 |
A |
T |
8: 83,492,644 (GRCm39) |
C189* |
probably null |
Het |
| Zfp942 |
T |
A |
17: 22,147,522 (GRCm39) |
H369L |
probably damaging |
Het |
| Zfp943 |
T |
A |
17: 22,211,361 (GRCm39) |
I149K |
probably benign |
Het |
| Zfyve19 |
G |
A |
2: 119,042,016 (GRCm39) |
V162M |
probably benign |
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 |
|
|
R1538:Cfap46
|
UTSW |
7 |
139,262,924 (GRCm39) |
missense |
probably null |
1.00 |
|
R1618:Cfap46
|
UTSW |
7 |
139,232,726 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1655:Cfap46
|
UTSW |
7 |
139,222,436 (GRCm39) |
nonsense |
probably null |
|
|
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'- TGCTAAGGCTCTGACTTCTCTG -3'
(R):5'- AGGCTATCTCTGGGCCTAATTC -3'
Sequencing Primer
(F):5'- GCTAAGGCTCTGACTTCTCTGAAAAG -3'
(R):5'- AATTCAGTTCATGGTCCCAGAC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation