Incidental Mutation 'R6736:Cfap46'
| ID |
528420 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap46
|
| Ensembl Gene |
ENSMUSG00000049571 |
| Gene Name |
cilia and flagella associated protein 46 |
| Synonyms |
9330101J02Rik, Ttc40 |
| MMRRC Submission |
044854-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6736 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
139180867-139263733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139199887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1998
(V1998A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[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 |
possibly damaging
Transcript: ENSMUST00000129990
AA Change: V1998A
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120186
Gene: ENSMUSG00000049571
AA Change: V1998A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,211,100 (GRCm39) |
I83T |
probably benign |
Het |
| Aadacl4 |
T |
G |
4: 144,349,909 (GRCm39) |
S389A |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,415,058 (GRCm39) |
S4042C |
probably damaging |
Het |
| Acaca |
G |
A |
11: 84,129,664 (GRCm39) |
V340I |
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,746,198 (GRCm39) |
|
probably null |
Het |
| Acsl6 |
A |
C |
11: 54,215,992 (GRCm39) |
E124A |
probably damaging |
Het |
| Adamtsl1 |
T |
A |
4: 86,260,484 (GRCm39) |
H898Q |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,575,329 (GRCm39) |
S603P |
probably damaging |
Het |
| Apobec1 |
A |
T |
6: 122,558,634 (GRCm39) |
M31K |
probably null |
Het |
| Astn1 |
T |
C |
1: 158,338,718 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
G |
T |
5: 67,824,960 (GRCm39) |
D790E |
probably damaging |
Het |
| Bahd1 |
T |
G |
2: 118,746,456 (GRCm39) |
M25R |
possibly damaging |
Het |
| BC034090 |
A |
T |
1: 155,117,676 (GRCm39) |
N147K |
possibly damaging |
Het |
| Bfsp2 |
G |
T |
9: 103,357,403 (GRCm39) |
A8E |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,869,772 (GRCm39) |
I85N |
probably damaging |
Het |
| Catspere2 |
T |
A |
1: 177,845,278 (GRCm39) |
Y99* |
probably null |
Het |
| Ccdc24 |
T |
A |
4: 117,727,732 (GRCm39) |
N145I |
possibly damaging |
Het |
| Cdhr5 |
G |
T |
7: 140,852,444 (GRCm39) |
Q141K |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 16,052,626 (GRCm39) |
Y2166F |
probably damaging |
Het |
| Cul4a |
T |
G |
8: 13,186,219 (GRCm39) |
S474A |
probably benign |
Het |
| Cutal |
A |
G |
2: 34,778,149 (GRCm39) |
T112A |
probably benign |
Het |
| Dcaf6 |
A |
C |
1: 165,227,354 (GRCm39) |
S258A |
possibly damaging |
Het |
| Dek |
C |
T |
13: 47,252,866 (GRCm39) |
V180M |
probably damaging |
Het |
| Dspp |
C |
A |
5: 104,326,041 (GRCm39) |
D801E |
unknown |
Het |
| Egflam |
T |
C |
15: 7,249,206 (GRCm39) |
T871A |
probably damaging |
Het |
| Erbin |
A |
T |
13: 103,971,274 (GRCm39) |
S781T |
possibly damaging |
Het |
| Erich6 |
A |
T |
3: 58,532,475 (GRCm39) |
H377Q |
probably damaging |
Het |
| Exo5 |
C |
A |
4: 120,778,953 (GRCm39) |
G304V |
probably damaging |
Het |
| Eya2 |
C |
A |
2: 165,557,957 (GRCm39) |
S184R |
possibly damaging |
Het |
| Fhod1 |
G |
A |
8: 106,064,522 (GRCm39) |
|
probably benign |
Het |
| G6pc3 |
A |
G |
11: 102,084,496 (GRCm39) |
Y302C |
possibly damaging |
Het |
| Gart |
T |
C |
16: 91,432,995 (GRCm39) |
D318G |
probably benign |
Het |
| Gm10300 |
T |
C |
4: 131,802,246 (GRCm39) |
|
probably benign |
Het |
| Gm11937 |
A |
G |
11: 99,500,900 (GRCm39) |
V39A |
probably damaging |
Het |
| Gnas |
T |
C |
2: 174,176,044 (GRCm39) |
M60T |
probably damaging |
Het |
| Grk5 |
G |
T |
19: 60,879,064 (GRCm39) |
R16L |
probably damaging |
Het |
| Hcn3 |
A |
G |
3: 89,059,981 (GRCm39) |
L221P |
probably damaging |
Het |
| Hddc3 |
G |
A |
7: 79,992,944 (GRCm39) |
R20Q |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,415,788 (GRCm39) |
Y530H |
possibly damaging |
Het |
| Igf2bp1 |
A |
T |
11: 95,863,948 (GRCm39) |
H247Q |
probably benign |
Het |
| Igkv4-70 |
T |
A |
6: 69,244,912 (GRCm39) |
D103V |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,226,668 (GRCm39) |
M1359L |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,038,293 (GRCm39) |
L1013S |
probably damaging |
Het |
| Kctd21 |
C |
T |
7: 96,997,291 (GRCm39) |
R255W |
probably damaging |
Het |
| Krt18 |
T |
A |
15: 101,939,204 (GRCm39) |
Y263N |
probably benign |
Het |
| Lamp5 |
C |
G |
2: 135,901,483 (GRCm39) |
N102K |
possibly damaging |
Het |
| Larp1 |
G |
A |
11: 57,933,473 (GRCm39) |
|
probably null |
Het |
| Lmnb1 |
A |
G |
18: 56,861,541 (GRCm39) |
N144S |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,278,555 (GRCm39) |
T3933S |
probably benign |
Het |
| Lrrc34 |
T |
C |
3: 30,679,008 (GRCm39) |
N363S |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,017,750 (GRCm39) |
|
probably null |
Het |
| Mafa |
C |
A |
15: 75,619,629 (GRCm39) |
G48V |
unknown |
Het |
| Mboat4 |
T |
C |
8: 34,591,675 (GRCm39) |
S371P |
possibly damaging |
Het |
| Mei4 |
A |
T |
9: 81,907,677 (GRCm39) |
M237L |
probably benign |
Het |
| Mfsd2a |
T |
C |
4: 122,845,054 (GRCm39) |
D219G |
probably benign |
Het |
| Msl2 |
A |
G |
9: 100,978,201 (GRCm39) |
N192D |
probably damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,429,003 (GRCm39) |
R2358M |
probably null |
Het |
| Myh10 |
A |
G |
11: 68,636,165 (GRCm39) |
T185A |
probably damaging |
Het |
| Nipsnap2 |
T |
C |
5: 129,822,352 (GRCm39) |
|
probably null |
Het |
| Notch1 |
T |
C |
2: 26,350,298 (GRCm39) |
T2281A |
probably benign |
Het |
| Odad2 |
C |
A |
18: 7,223,586 (GRCm39) |
V486F |
probably damaging |
Het |
| Or12j4 |
T |
C |
7: 140,046,800 (GRCm39) |
S229P |
probably damaging |
Het |
| Or12j4 |
G |
T |
7: 140,046,834 (GRCm39) |
C240F |
probably damaging |
Het |
| Or1e1c |
G |
T |
11: 73,266,402 (GRCm39) |
V276F |
probably benign |
Het |
| Or4q3 |
A |
T |
14: 50,582,905 (GRCm39) |
N300K |
probably damaging |
Het |
| Or5an10 |
G |
A |
19: 12,275,936 (GRCm39) |
Q187* |
probably null |
Het |
| Or5d20-ps1 |
C |
A |
2: 87,931,947 (GRCm39) |
C128F |
probably benign |
Het |
| Or8c17 |
T |
A |
9: 38,179,866 (GRCm39) |
I19N |
probably damaging |
Het |
| Or8g30 |
A |
G |
9: 39,230,089 (GRCm39) |
S274P |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,121,899 (GRCm39) |
S283T |
probably benign |
Het |
| Pcnx2 |
G |
T |
8: 126,479,056 (GRCm39) |
|
probably null |
Het |
| Piwil4 |
A |
G |
9: 14,627,119 (GRCm39) |
F424L |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,421,336 (GRCm39) |
S3035P |
probably damaging |
Het |
| Psmc2 |
T |
A |
5: 22,005,574 (GRCm39) |
D218E |
probably damaging |
Het |
| Ptpn7 |
C |
T |
1: 135,066,974 (GRCm39) |
P277L |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,180,436 (GRCm39) |
K27E |
probably damaging |
Het |
| Rp1l1 |
G |
T |
14: 64,267,173 (GRCm39) |
A920S |
possibly damaging |
Het |
| Rsbn1l |
A |
T |
5: 21,113,222 (GRCm39) |
H433Q |
probably benign |
Het |
| Safb |
C |
A |
17: 56,913,023 (GRCm39) |
P913Q |
possibly damaging |
Het |
| Sema7a |
G |
A |
9: 57,867,854 (GRCm39) |
V477M |
probably damaging |
Het |
| Serpina16 |
T |
A |
12: 103,635,191 (GRCm39) |
T408S |
possibly damaging |
Het |
| Six5 |
G |
A |
7: 18,828,916 (GRCm39) |
V119M |
possibly damaging |
Het |
| Slc6a16 |
C |
T |
7: 44,908,452 (GRCm39) |
P11S |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,756,389 (GRCm39) |
|
probably benign |
Het |
| Sntg1 |
T |
A |
1: 8,515,274 (GRCm39) |
I420F |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,659,954 (GRCm39) |
D982G |
possibly damaging |
Het |
| Stag3 |
T |
A |
5: 138,299,761 (GRCm39) |
F891I |
probably damaging |
Het |
| Sugp1 |
A |
G |
8: 70,511,953 (GRCm39) |
E183G |
probably benign |
Het |
| Taf1d |
T |
C |
9: 15,219,119 (GRCm39) |
|
probably null |
Het |
| Tapbp |
T |
C |
17: 34,138,931 (GRCm39) |
S33P |
possibly damaging |
Het |
| Ubap2 |
CT |
CTTGCCCCGGT |
4: 41,227,224 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
GCCCGCTTGCCCCGCT |
GCCCGCTTGCCCCGCTTGCCCCGCT |
4: 41,227,210 (GRCm39) |
|
probably benign |
Het |
| Ubash3a |
A |
G |
17: 31,450,389 (GRCm39) |
T355A |
probably benign |
Het |
| Usp16 |
T |
G |
16: 87,267,285 (GRCm39) |
V225G |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,497,047 (GRCm39) |
V2454A |
probably benign |
Het |
| Vmn1r191 |
G |
T |
13: 22,363,720 (GRCm39) |
F11L |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,697,282 (GRCm39) |
C137S |
probably damaging |
Het |
| Zfp1002 |
T |
A |
2: 150,097,198 (GRCm39) |
Y77F |
possibly damaging |
Het |
| Zfp143 |
T |
C |
7: 109,691,021 (GRCm39) |
M524T |
probably damaging |
Het |
| Zfp599 |
A |
G |
9: 22,161,140 (GRCm39) |
C342R |
probably damaging |
Het |
| Zfp777 |
T |
G |
6: 48,001,790 (GRCm39) |
K811Q |
probably damaging |
Het |
| Zfp870 |
T |
A |
17: 33,102,570 (GRCm39) |
H254L |
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 |
|
|
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 |
|
|
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'- TTTAGGATCGAGGTCAACACC -3'
(R):5'- TCACATGAGAGCCATTGGTG -3'
Sequencing Primer
(F):5'- GGGACCTGTGTACAACCAGAC -3'
(R):5'- CTAACACAGCTGGAGAGT -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation