Incidental Mutation 'R5288:Cfap46'
ID |
424487 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap46
|
Ensembl Gene |
ENSMUSG00000049571 |
Gene Name |
cilia and flagella associated protein 46 |
Synonyms |
9330101J02Rik, Ttc40 |
MMRRC Submission |
042842-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5288 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
139180867-139263733 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 139193423 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120186
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000129990]
[ENSMUST00000129990]
|
AlphaFold |
E9Q2C0 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000093991
|
SMART Domains |
Protein: ENSMUSP00000091527 Gene: ENSMUSG00000070357
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C50
|
21 |
290 |
9.9e-7 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000129990
|
SMART Domains |
Protein: ENSMUSP00000120186 Gene: ENSMUSG00000049571
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: ENSMUST00000129990
|
SMART Domains |
Protein: ENSMUSP00000120186 Gene: ENSMUSG00000049571
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 |
noncoding transcript
Transcript: ENSMUST00000166503
|
SMART Domains |
Protein: ENSMUSP00000126077 Gene: ENSMUSG00000070357
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
50 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000196558
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 113 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
A |
T |
8: 87,293,168 (GRCm39) |
Y7N |
probably damaging |
Het |
Adcy1 |
A |
C |
11: 7,111,351 (GRCm39) |
I881L |
probably benign |
Het |
Aftph |
T |
C |
11: 20,676,994 (GRCm39) |
D205G |
probably damaging |
Het |
Aldh7a1 |
T |
A |
18: 56,667,325 (GRCm39) |
N316Y |
possibly damaging |
Het |
Ankrd36 |
A |
G |
11: 5,639,340 (GRCm39) |
|
probably benign |
Het |
Ccdc88a |
T |
G |
11: 29,448,416 (GRCm39) |
N1465K |
possibly damaging |
Het |
Ccpg1 |
G |
A |
9: 72,920,326 (GRCm39) |
S647N |
probably benign |
Het |
Cep70 |
T |
A |
9: 99,163,128 (GRCm39) |
L325Q |
probably damaging |
Het |
Cftr |
C |
T |
6: 18,226,128 (GRCm39) |
Q359* |
probably null |
Het |
Chrne |
A |
T |
11: 70,505,913 (GRCm39) |
N457K |
possibly damaging |
Het |
Cntn2 |
A |
G |
1: 132,451,415 (GRCm39) |
I438T |
probably benign |
Het |
Cntn4 |
T |
C |
6: 106,158,765 (GRCm39) |
L10P |
possibly damaging |
Het |
Copg1 |
G |
T |
6: 87,867,189 (GRCm39) |
M87I |
possibly damaging |
Het |
Cyfip1 |
A |
T |
7: 55,574,883 (GRCm39) |
M1045L |
possibly damaging |
Het |
Cyp2c29 |
C |
T |
19: 39,318,816 (GRCm39) |
P432L |
probably damaging |
Het |
Dcaf11 |
T |
A |
14: 55,800,833 (GRCm39) |
D96E |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,286,041 (GRCm39) |
S2715P |
probably benign |
Het |
Dnhd1 |
G |
A |
7: 105,363,644 (GRCm39) |
E4069K |
possibly damaging |
Het |
Dpy19l4 |
T |
A |
4: 11,289,721 (GRCm39) |
N330I |
probably damaging |
Het |
Dpy19l4 |
G |
T |
4: 11,304,014 (GRCm39) |
A132D |
probably damaging |
Het |
Duox2 |
A |
G |
2: 122,125,617 (GRCm39) |
V330A |
probably benign |
Het |
Dusp11 |
T |
C |
6: 85,924,587 (GRCm39) |
*322W |
probably null |
Het |
Dusp8 |
T |
A |
7: 141,643,730 (GRCm39) |
Q61L |
possibly damaging |
Het |
Eml3 |
G |
A |
19: 8,916,638 (GRCm39) |
G720S |
probably damaging |
Het |
F11 |
A |
G |
8: 45,699,833 (GRCm39) |
S418P |
probably damaging |
Het |
Fam91a1 |
G |
A |
15: 58,320,243 (GRCm39) |
S645N |
probably benign |
Het |
Fat2 |
G |
A |
11: 55,158,482 (GRCm39) |
T3412I |
probably benign |
Het |
Fbxo38 |
A |
G |
18: 62,674,042 (GRCm39) |
M13T |
probably benign |
Het |
Fbxo48 |
G |
T |
11: 16,904,329 (GRCm39) |
L160F |
possibly damaging |
Het |
Gm10134 |
T |
A |
2: 28,396,372 (GRCm39) |
|
probably benign |
Het |
Gm11787 |
T |
C |
4: 3,511,795 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch8 |
A |
T |
11: 102,399,053 (GRCm39) |
|
probably null |
Het |
Gucy2g |
G |
A |
19: 55,203,548 (GRCm39) |
A750V |
probably damaging |
Het |
Hephl1 |
T |
C |
9: 14,988,150 (GRCm39) |
T653A |
possibly damaging |
Het |
Herc3 |
T |
A |
6: 58,851,263 (GRCm39) |
M504K |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,350,333 (GRCm39) |
T5077A |
probably benign |
Het |
Ifitm3 |
T |
C |
7: 140,590,554 (GRCm39) |
N2S |
probably benign |
Het |
Ighe |
T |
C |
12: 113,235,092 (GRCm39) |
H356R |
probably benign |
Het |
Ighv10-3 |
T |
A |
12: 114,487,125 (GRCm39) |
M99L |
probably benign |
Het |
Izumo4 |
C |
A |
10: 80,538,639 (GRCm39) |
C30* |
probably null |
Het |
Jag1 |
A |
T |
2: 136,937,464 (GRCm39) |
H303Q |
possibly damaging |
Het |
Kif24 |
T |
C |
4: 41,395,373 (GRCm39) |
E500G |
probably benign |
Het |
Kng1 |
A |
T |
16: 22,897,842 (GRCm39) |
D414V |
probably damaging |
Het |
Loxhd1 |
A |
C |
18: 77,451,308 (GRCm39) |
D410A |
probably damaging |
Het |
Ltn1 |
T |
C |
16: 87,212,899 (GRCm39) |
K554R |
possibly damaging |
Het |
Ly75 |
A |
G |
2: 60,133,985 (GRCm39) |
C1547R |
probably damaging |
Het |
Ms4a6d |
A |
T |
19: 11,564,500 (GRCm39) |
S124T |
possibly damaging |
Het |
Mtcl3 |
A |
G |
10: 29,072,766 (GRCm39) |
D686G |
probably benign |
Het |
Mtfr2 |
A |
G |
10: 20,233,448 (GRCm39) |
D339G |
probably damaging |
Het |
Myh10 |
T |
A |
11: 68,692,434 (GRCm39) |
L1369Q |
probably damaging |
Het |
Myh11 |
A |
T |
16: 14,025,872 (GRCm39) |
V1366D |
possibly damaging |
Het |
Nadsyn1 |
A |
G |
7: 143,357,023 (GRCm39) |
V491A |
possibly damaging |
Het |
Nav3 |
T |
C |
10: 109,688,966 (GRCm39) |
N437S |
probably benign |
Het |
Ncf1 |
A |
G |
5: 134,250,659 (GRCm39) |
L373P |
probably damaging |
Het |
Neb |
A |
T |
2: 52,079,873 (GRCm39) |
I85N |
probably damaging |
Het |
Nktr |
A |
G |
9: 121,577,659 (GRCm39) |
K576E |
probably benign |
Het |
Nmur2 |
T |
A |
11: 55,931,040 (GRCm39) |
I224F |
probably damaging |
Het |
Oas3 |
A |
G |
5: 120,895,055 (GRCm39) |
F978S |
probably damaging |
Het |
Or10ag53 |
C |
T |
2: 87,082,827 (GRCm39) |
P182L |
probably benign |
Het |
Or10ak9 |
T |
C |
4: 118,726,772 (GRCm39) |
S264P |
probably damaging |
Het |
Or2r3 |
T |
A |
6: 42,448,186 (GRCm39) |
I309F |
probably benign |
Het |
Or2t48 |
A |
T |
11: 58,420,308 (GRCm39) |
M168K |
probably damaging |
Het |
Or5p60 |
T |
C |
7: 107,724,375 (GRCm39) |
T32A |
probably benign |
Het |
Pcyox1 |
A |
T |
6: 86,369,336 (GRCm39) |
|
probably null |
Het |
Pdcd7 |
G |
A |
9: 65,265,974 (GRCm39) |
W477* |
probably null |
Het |
Pitpnm1 |
T |
C |
19: 4,153,435 (GRCm39) |
F197S |
probably damaging |
Het |
Plce1 |
C |
A |
19: 38,748,535 (GRCm39) |
N1755K |
probably damaging |
Het |
Pnpla7 |
C |
A |
2: 24,931,031 (GRCm39) |
P882Q |
probably damaging |
Het |
Pold2 |
A |
G |
11: 5,826,760 (GRCm39) |
L58P |
probably damaging |
Het |
Pomt1 |
C |
G |
2: 32,134,311 (GRCm39) |
Y277* |
probably null |
Het |
Pou4f2 |
A |
G |
8: 79,162,958 (GRCm39) |
Y26H |
unknown |
Het |
Pphln1-ps1 |
T |
G |
16: 13,495,622 (GRCm39) |
N240K |
probably benign |
Het |
Ppm1e |
A |
T |
11: 87,249,377 (GRCm39) |
L118Q |
possibly damaging |
Het |
Pramel34 |
C |
T |
5: 93,785,607 (GRCm39) |
M224I |
possibly damaging |
Het |
Prdx2 |
T |
A |
8: 85,698,302 (GRCm39) |
Y164* |
probably null |
Het |
Prkra |
T |
G |
2: 76,469,622 (GRCm39) |
T146P |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,386,625 (GRCm39) |
D1038G |
probably damaging |
Het |
Rab4a |
A |
T |
8: 124,554,113 (GRCm39) |
I16L |
probably benign |
Het |
Rai2 |
A |
G |
X: 160,561,636 (GRCm39) |
N363S |
probably benign |
Het |
Ranbp17 |
A |
T |
11: 33,169,241 (GRCm39) |
V991D |
possibly damaging |
Het |
Rimbp2 |
G |
A |
5: 128,865,656 (GRCm39) |
T557M |
probably benign |
Het |
Rmi1 |
G |
A |
13: 58,557,280 (GRCm39) |
G510R |
probably damaging |
Het |
Sdad1 |
A |
G |
5: 92,434,684 (GRCm39) |
*687Q |
probably null |
Het |
Sema6d |
T |
C |
2: 124,506,166 (GRCm39) |
L720P |
probably damaging |
Het |
Setx |
T |
G |
2: 29,024,045 (GRCm39) |
|
probably null |
Het |
Sgsm3 |
T |
C |
15: 80,892,200 (GRCm39) |
V256A |
probably benign |
Het |
Slc28a2b |
C |
A |
2: 122,353,259 (GRCm39) |
L480I |
probably benign |
Het |
Sppl2c |
T |
A |
11: 104,078,127 (GRCm39) |
I309K |
possibly damaging |
Het |
Stard9 |
A |
G |
2: 120,531,111 (GRCm39) |
E2456G |
probably damaging |
Het |
Strn3 |
C |
G |
12: 51,694,803 (GRCm39) |
R320P |
probably damaging |
Het |
Supv3l1 |
A |
T |
10: 62,266,375 (GRCm39) |
N600K |
possibly damaging |
Het |
Syne2 |
T |
A |
12: 76,146,112 (GRCm39) |
S6377T |
possibly damaging |
Het |
Tas2r123 |
A |
T |
6: 132,824,190 (GRCm39) |
H29L |
probably benign |
Het |
Tbl3 |
C |
T |
17: 24,924,944 (GRCm39) |
V52M |
possibly damaging |
Het |
Tbp |
A |
G |
17: 15,727,609 (GRCm39) |
I145V |
probably benign |
Het |
Tcf20 |
A |
T |
15: 82,739,910 (GRCm39) |
S514T |
possibly damaging |
Het |
Tgm4 |
A |
G |
9: 122,885,559 (GRCm39) |
Y367C |
probably damaging |
Het |
Tle1 |
C |
T |
4: 72,060,081 (GRCm39) |
V258M |
probably damaging |
Het |
Tln1 |
C |
T |
4: 43,540,661 (GRCm39) |
V1447I |
probably benign |
Het |
Tnfrsf11b |
C |
T |
15: 54,141,622 (GRCm39) |
A8T |
probably benign |
Het |
Trim80 |
A |
T |
11: 115,338,843 (GRCm39) |
T558S |
probably benign |
Het |
Trmt6 |
C |
A |
2: 132,650,703 (GRCm39) |
A302S |
probably benign |
Het |
Tsen15 |
C |
T |
1: 152,259,131 (GRCm39) |
V76I |
probably damaging |
Het |
Ttc17 |
A |
T |
2: 94,133,985 (GRCm39) |
W1067R |
probably damaging |
Het |
Ucn3 |
A |
T |
13: 3,991,474 (GRCm39) |
F59L |
probably benign |
Het |
Ulk3 |
T |
A |
9: 57,498,023 (GRCm39) |
I108N |
possibly damaging |
Het |
Vmn2r94 |
A |
C |
17: 18,464,728 (GRCm39) |
Y521D |
probably damaging |
Het |
Vps45 |
T |
C |
3: 95,965,086 (GRCm39) |
M1V |
probably null |
Het |
Vta1 |
C |
A |
10: 14,581,143 (GRCm39) |
L21F |
probably damaging |
Het |
Zdhhc21 |
C |
T |
4: 82,765,929 (GRCm39) |
G2D |
probably damaging |
Het |
Zfp169 |
A |
T |
13: 48,643,751 (GRCm39) |
C459S |
possibly damaging |
Het |
Zfp90 |
C |
T |
8: 107,152,000 (GRCm39) |
T571M |
probably damaging |
Het |
Zswim8 |
A |
T |
14: 20,768,939 (GRCm39) |
N1119I |
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 |
|
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 |
|
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 |
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'- TGTTCTAGGAGACCTCAAGGAG -3'
(R):5'- TGTGTCAGATGCAGAGATGGC -3'
Sequencing Primer
(F):5'- AGAGGAACCTTGGGTCCTG -3'
(R):5'- TGTGGTAGCACAGGACTCTAATCC -3'
|
Posted On |
2016-08-04 |