Incidental Mutation 'R1962:Cfap46'
| ID |
216987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap46
|
| Ensembl Gene |
ENSMUSG00000049571 |
| Gene Name |
cilia and flagella associated protein 46 |
| Synonyms |
9330101J02Rik, Ttc40 |
| MMRRC Submission |
039976-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1962 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
139180867-139263733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 139246957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 328
(L328Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000129990]
[ENSMUST00000140820]
|
| AlphaFold |
E9Q2C0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129990
AA Change: L328Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120186
Gene: ENSMUSG00000049571
AA Change: L328Q
| 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 damaging
Transcript: ENSMUST00000140820
AA Change: L328Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121085
Gene: ENSMUSG00000049571
AA Change: L328Q
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 108 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 119,940,468 (GRCm39) |
I354M |
probably damaging |
Het |
| Abca8a |
T |
C |
11: 109,917,731 (GRCm39) |
|
probably null |
Het |
| Abca8b |
T |
C |
11: 109,870,724 (GRCm39) |
R143G |
probably benign |
Het |
| Actn4 |
T |
C |
7: 28,594,047 (GRCm39) |
D840G |
probably damaging |
Het |
| Agpat5 |
T |
C |
8: 18,928,026 (GRCm39) |
L197P |
probably damaging |
Het |
| Akr1d1 |
T |
C |
6: 37,512,983 (GRCm39) |
V93A |
probably benign |
Het |
| Arap2 |
T |
C |
5: 62,834,007 (GRCm39) |
K820R |
possibly damaging |
Het |
| Armc9 |
T |
A |
1: 86,135,696 (GRCm39) |
C551S |
probably damaging |
Het |
| Atg7 |
T |
C |
6: 114,683,191 (GRCm39) |
L418P |
probably damaging |
Het |
| Awat2 |
G |
A |
X: 99,448,165 (GRCm39) |
P148S |
probably damaging |
Het |
| Brms1 |
C |
T |
19: 5,096,027 (GRCm39) |
R34W |
probably damaging |
Het |
| Cbx2 |
A |
G |
11: 118,919,395 (GRCm39) |
Q320R |
possibly damaging |
Het |
| Ccdc106 |
G |
A |
7: 5,062,539 (GRCm39) |
D11N |
possibly damaging |
Het |
| Ccdc30 |
C |
T |
4: 119,196,988 (GRCm39) |
R426Q |
probably benign |
Het |
| Cdc42bpg |
T |
A |
19: 6,356,885 (GRCm39) |
V47E |
probably damaging |
Het |
| Cep170b |
C |
T |
12: 112,704,495 (GRCm39) |
S751L |
probably damaging |
Het |
| Crtc3 |
A |
G |
7: 80,239,679 (GRCm39) |
F558L |
probably damaging |
Het |
| Cyp2d34 |
A |
G |
15: 82,502,809 (GRCm39) |
V139A |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,413,408 (GRCm39) |
Y1136H |
probably damaging |
Het |
| Dhrs4 |
T |
C |
14: 55,725,060 (GRCm39) |
V185A |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,281,263 (GRCm39) |
K2775E |
possibly damaging |
Het |
| Dst |
C |
A |
1: 34,230,097 (GRCm39) |
S2238R |
possibly damaging |
Het |
| Duox2 |
T |
C |
2: 122,127,853 (GRCm39) |
|
probably null |
Het |
| Dusp16 |
G |
T |
6: 134,695,099 (GRCm39) |
Y577* |
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Eml5 |
A |
G |
12: 98,842,570 (GRCm39) |
F176S |
probably damaging |
Het |
| Esco2 |
C |
A |
14: 66,068,982 (GRCm39) |
R109S |
probably damaging |
Het |
| Galnt7 |
C |
T |
8: 57,985,748 (GRCm39) |
E541K |
probably benign |
Het |
| Gbf1 |
C |
T |
19: 46,255,658 (GRCm39) |
T707I |
probably damaging |
Het |
| Gdf5 |
A |
G |
2: 155,783,672 (GRCm39) |
C427R |
probably damaging |
Het |
| Glyctk |
T |
C |
9: 106,035,064 (GRCm39) |
M1V |
probably null |
Het |
| Gm5478 |
T |
C |
15: 101,552,830 (GRCm39) |
E367G |
probably damaging |
Het |
| Golga7b |
G |
A |
19: 42,251,768 (GRCm39) |
V5I |
probably benign |
Het |
| Gpt2 |
T |
C |
8: 86,219,764 (GRCm39) |
L70P |
probably damaging |
Het |
| Gsdmc3 |
C |
A |
15: 63,730,315 (GRCm39) |
Q416H |
probably damaging |
Het |
| Hoxb5 |
A |
G |
11: 96,194,918 (GRCm39) |
E160G |
probably benign |
Het |
| Ift81 |
A |
T |
5: 122,698,772 (GRCm39) |
Y532N |
probably benign |
Het |
| Igf1 |
G |
A |
10: 87,700,726 (GRCm39) |
C66Y |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,857,023 (GRCm39) |
V995A |
probably damaging |
Het |
| Ip6k1 |
T |
C |
9: 107,918,287 (GRCm39) |
|
probably null |
Het |
| Jaml |
T |
C |
9: 45,015,495 (GRCm39) |
I333T |
possibly damaging |
Het |
| Kdm4c |
T |
C |
4: 74,225,253 (GRCm39) |
|
probably benign |
Het |
| Kdm6b |
T |
C |
11: 69,292,191 (GRCm39) |
|
probably benign |
Het |
| Krt6a |
C |
T |
15: 101,599,900 (GRCm39) |
R404H |
probably damaging |
Het |
| Larp4b |
C |
A |
13: 9,186,878 (GRCm39) |
H69N |
probably benign |
Het |
| Lcat |
A |
T |
8: 106,668,355 (GRCm39) |
W222R |
probably damaging |
Het |
| Lrrc40 |
T |
A |
3: 157,746,086 (GRCm39) |
C54S |
probably benign |
Het |
| Mcpt9 |
T |
A |
14: 56,265,024 (GRCm39) |
H159L |
probably benign |
Het |
| Megf8 |
T |
C |
7: 25,062,976 (GRCm39) |
V2444A |
probably damaging |
Het |
| Memo1 |
T |
C |
17: 74,552,003 (GRCm39) |
T98A |
possibly damaging |
Het |
| Mical2 |
A |
T |
7: 112,012,051 (GRCm39) |
I634L |
probably benign |
Het |
| Mov10 |
C |
T |
3: 104,704,293 (GRCm39) |
R835Q |
probably damaging |
Het |
| Mybpc1 |
A |
T |
10: 88,384,688 (GRCm39) |
L546Q |
probably damaging |
Het |
| Myo6 |
T |
C |
9: 80,168,117 (GRCm39) |
V427A |
probably damaging |
Het |
| Myom2 |
T |
A |
8: 15,182,599 (GRCm39) |
|
probably null |
Het |
| Mzt2 |
G |
A |
16: 15,666,543 (GRCm39) |
R125C |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,162,949 (GRCm39) |
R2031* |
probably null |
Het |
| Nphp3 |
T |
C |
9: 103,898,537 (GRCm39) |
S447P |
probably benign |
Het |
| Nrp2 |
T |
A |
1: 62,758,090 (GRCm39) |
D25E |
probably benign |
Het |
| Nts |
A |
G |
10: 102,320,918 (GRCm39) |
L57S |
probably damaging |
Het |
| Nudt9 |
G |
A |
5: 104,212,971 (GRCm39) |
R348H |
probably benign |
Het |
| Or10d5j |
T |
C |
9: 39,867,979 (GRCm39) |
Y84C |
probably benign |
Het |
| Or13a1 |
C |
T |
6: 116,470,725 (GRCm39) |
P52S |
probably benign |
Het |
| Or3a1b |
C |
A |
11: 74,012,650 (GRCm39) |
D178E |
probably benign |
Het |
| Or4k49 |
T |
C |
2: 111,495,234 (GRCm39) |
I221T |
probably damaging |
Het |
| Or5ac16 |
T |
A |
16: 59,022,271 (GRCm39) |
I173F |
possibly damaging |
Het |
| Pafah1b1 |
T |
C |
11: 74,590,177 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
C |
A |
18: 63,211,911 (GRCm39) |
M1291I |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,498,016 (GRCm39) |
F486S |
probably benign |
Het |
| Podnl1 |
C |
T |
8: 84,853,926 (GRCm39) |
H99Y |
probably benign |
Het |
| Prdm6 |
A |
T |
18: 53,701,233 (GRCm39) |
Y341F |
probably damaging |
Het |
| Prr5l |
C |
T |
2: 101,588,854 (GRCm39) |
|
probably null |
Het |
| Psmd4 |
G |
T |
3: 94,944,012 (GRCm39) |
T24N |
possibly damaging |
Het |
| Rbbp8nl |
G |
A |
2: 179,922,667 (GRCm39) |
T242M |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Scfd1 |
T |
C |
12: 51,469,769 (GRCm39) |
V438A |
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,314,655 (GRCm39) |
C1677R |
probably damaging |
Het |
| Sgsm2 |
T |
A |
11: 74,782,854 (GRCm39) |
H34L |
probably damaging |
Het |
| Shank1 |
T |
A |
7: 43,993,747 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
G |
T |
19: 26,650,124 (GRCm39) |
E24* |
probably null |
Het |
| Sncaip |
C |
T |
18: 53,004,434 (GRCm39) |
H354Y |
probably damaging |
Het |
| St8sia2 |
T |
A |
7: 73,593,057 (GRCm39) |
D333V |
probably damaging |
Het |
| Stxbp2 |
C |
A |
8: 3,692,672 (GRCm39) |
R575S |
probably benign |
Het |
| Syt9 |
T |
A |
7: 107,024,314 (GRCm39) |
V69D |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,689,558 (GRCm39) |
N240S |
probably benign |
Het |
| Tcl1b1 |
T |
C |
12: 105,130,727 (GRCm39) |
L70S |
probably benign |
Het |
| Tmem44 |
C |
T |
16: 30,362,219 (GRCm39) |
|
probably null |
Het |
| Tor1b |
A |
G |
2: 30,846,931 (GRCm39) |
R293G |
probably benign |
Het |
| Trim29 |
T |
C |
9: 43,222,615 (GRCm39) |
V148A |
probably benign |
Het |
| Trmt10b |
C |
A |
4: 45,314,378 (GRCm39) |
Y271* |
probably null |
Het |
| Ubqln5 |
A |
T |
7: 103,778,095 (GRCm39) |
V243E |
possibly damaging |
Het |
| Ubqln5 |
T |
C |
7: 103,778,134 (GRCm39) |
D230G |
probably damaging |
Het |
| Ugt2b37 |
A |
G |
5: 87,402,193 (GRCm39) |
F146S |
probably damaging |
Het |
| Vmn1r160 |
T |
A |
7: 22,570,827 (GRCm39) |
V60E |
probably damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,774,185 (GRCm39) |
D390V |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,200,793 (GRCm39) |
R388Q |
possibly damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,398,369 (GRCm39) |
V537D |
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,226,591 (GRCm39) |
S416P |
probably damaging |
Het |
| Vmn2r98 |
C |
A |
17: 19,285,595 (GRCm39) |
Y138* |
probably null |
Het |
| Vmn2r-ps158 |
T |
C |
7: 42,696,824 (GRCm39) |
V620A |
probably benign |
Het |
| Xrra1 |
A |
C |
7: 99,560,227 (GRCm39) |
E401A |
probably damaging |
Het |
| Zfp280d |
T |
A |
9: 72,242,362 (GRCm39) |
C688* |
probably null |
Het |
| Zfp3 |
T |
A |
11: 70,662,954 (GRCm39) |
Y304* |
probably null |
Het |
| Zfp407 |
A |
T |
18: 84,577,461 (GRCm39) |
D1217E |
probably benign |
Het |
| Zfp658 |
T |
C |
7: 43,223,245 (GRCm39) |
Y507H |
possibly damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,659,252 (GRCm39) |
T220A |
possibly damaging |
Het |
| Zmym4 |
C |
G |
4: 126,796,463 (GRCm39) |
K820N |
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 |
|
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'- CTGAAGCTTTCCTCAAACCG -3'
(R):5'- AAATCAGTGAGGCGTCCCAC -3'
Sequencing Primer
(F):5'- GAAGCTTTCCTCAAACCGATTCC -3'
(R):5'- AAAGGTCTCACAAAGTCTTTCTCC -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation