Incidental Mutation 'R1591:Cfap61'
ID |
175462 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap61
|
Ensembl Gene |
ENSMUSG00000037143 |
Gene Name |
cilia and flagella associated protein 61 |
Synonyms |
4930529M08Rik |
MMRRC Submission |
039628-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1591 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
145776704-146056959 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 145987378 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 1060
(R1060G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118411
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133433]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000133433
AA Change: R1060G
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000118411 Gene: ENSMUSG00000037143 AA Change: R1060G
Domain | Start | End | E-Value | Type |
Pfam:DUF4821
|
15 |
272 |
1.1e-96 |
PFAM |
low complexity region
|
355 |
368 |
N/A |
INTRINSIC |
low complexity region
|
661 |
672 |
N/A |
INTRINSIC |
low complexity region
|
1172 |
1182 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144066
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
Validation Efficiency |
100% (80/80) |
Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abraxas1 |
G |
T |
5: 100,957,505 (GRCm39) |
Q201K |
probably benign |
Het |
Acacb |
A |
T |
5: 114,341,484 (GRCm39) |
I829F |
possibly damaging |
Het |
Acvr1b |
G |
T |
15: 101,091,905 (GRCm39) |
V62L |
probably benign |
Het |
Adam6b |
A |
T |
12: 113,453,452 (GRCm39) |
I90F |
probably benign |
Het |
Adgrf1 |
T |
C |
17: 43,621,872 (GRCm39) |
L703P |
probably damaging |
Het |
Arf3 |
T |
C |
15: 98,640,669 (GRCm39) |
|
probably benign |
Het |
Asns |
T |
C |
6: 7,678,007 (GRCm39) |
D357G |
probably damaging |
Het |
Atr |
T |
C |
9: 95,827,438 (GRCm39) |
M2461T |
probably damaging |
Het |
B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
Bod1l |
T |
C |
5: 41,976,563 (GRCm39) |
I1584V |
probably benign |
Het |
Bub3 |
T |
C |
7: 131,163,337 (GRCm39) |
|
probably null |
Het |
Camkk2 |
A |
G |
5: 122,895,621 (GRCm39) |
|
probably null |
Het |
Cand1 |
G |
T |
10: 119,047,774 (GRCm39) |
T572K |
possibly damaging |
Het |
Caprin2 |
A |
T |
6: 148,774,606 (GRCm39) |
S235R |
possibly damaging |
Het |
Cdh24 |
T |
C |
14: 54,873,799 (GRCm39) |
T452A |
probably benign |
Het |
Cdh4 |
T |
C |
2: 179,528,657 (GRCm39) |
|
probably null |
Het |
Chd9 |
A |
G |
8: 91,710,166 (GRCm39) |
D314G |
probably damaging |
Het |
Cplx3 |
C |
T |
9: 57,523,085 (GRCm39) |
V125I |
probably benign |
Het |
Csmd1 |
T |
A |
8: 15,950,710 (GRCm39) |
I3500F |
probably damaging |
Het |
Dnah1 |
G |
T |
14: 30,994,289 (GRCm39) |
Q2858K |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,053,583 (GRCm39) |
E2884K |
probably benign |
Het |
Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
Exosc10 |
T |
A |
4: 148,652,840 (GRCm39) |
I485N |
probably benign |
Het |
Fap |
T |
C |
2: 62,384,201 (GRCm39) |
K2E |
probably damaging |
Het |
Fgfr1 |
G |
A |
8: 26,062,736 (GRCm39) |
G671D |
probably damaging |
Het |
Fzr1 |
C |
T |
10: 81,206,201 (GRCm39) |
R162Q |
possibly damaging |
Het |
Grap2 |
A |
T |
15: 80,532,649 (GRCm39) |
Y272F |
probably damaging |
Het |
Il11ra1 |
T |
A |
4: 41,766,200 (GRCm39) |
W246R |
probably damaging |
Het |
Kcna3 |
A |
T |
3: 106,944,345 (GRCm39) |
I203F |
probably damaging |
Het |
Kcng1 |
T |
C |
2: 168,110,630 (GRCm39) |
E178G |
possibly damaging |
Het |
Kif19a |
A |
C |
11: 114,680,057 (GRCm39) |
H798P |
probably benign |
Het |
Kif21b |
T |
C |
1: 136,077,055 (GRCm39) |
L359P |
probably damaging |
Het |
Krt6a |
A |
T |
15: 101,600,792 (GRCm39) |
|
probably null |
Het |
Lrp1 |
C |
T |
10: 127,441,475 (GRCm39) |
S216N |
probably benign |
Het |
Lrp3 |
A |
G |
7: 34,901,790 (GRCm39) |
V676A |
probably benign |
Het |
Lrrc63 |
T |
A |
14: 75,363,332 (GRCm39) |
K266N |
possibly damaging |
Het |
Mccc1 |
C |
T |
3: 36,044,006 (GRCm39) |
V246M |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,700,092 (GRCm39) |
V1395A |
possibly damaging |
Het |
Mmrn1 |
A |
T |
6: 60,921,755 (GRCm39) |
R71* |
probably null |
Het |
Mrps2 |
C |
T |
2: 28,359,500 (GRCm39) |
A119V |
probably benign |
Het |
Ogdh |
T |
C |
11: 6,299,384 (GRCm39) |
F750S |
probably damaging |
Het |
Or1ak2 |
C |
A |
2: 36,827,990 (GRCm39) |
N286K |
probably damaging |
Het |
Or51aa2 |
T |
G |
7: 103,188,274 (GRCm39) |
T56P |
probably benign |
Het |
Or5p60 |
T |
A |
7: 107,723,571 (GRCm39) |
I300F |
possibly damaging |
Het |
Or8b3 |
A |
G |
9: 38,314,232 (GRCm39) |
T18A |
probably damaging |
Het |
Or8b42 |
A |
T |
9: 38,341,707 (GRCm39) |
N43I |
probably damaging |
Het |
Osbpl11 |
A |
C |
16: 33,030,353 (GRCm39) |
I194L |
probably benign |
Het |
Pacsin2 |
T |
C |
15: 83,269,252 (GRCm39) |
E14G |
probably damaging |
Het |
Pate7 |
T |
C |
9: 35,687,952 (GRCm39) |
D96G |
probably damaging |
Het |
Pcdh7 |
A |
G |
5: 57,877,764 (GRCm39) |
T440A |
probably damaging |
Het |
Pcdhb17 |
T |
C |
18: 37,618,878 (GRCm39) |
S223P |
probably damaging |
Het |
Pik3c2g |
G |
A |
6: 139,693,904 (GRCm39) |
R109K |
probably benign |
Het |
Ppp2ca |
T |
C |
11: 51,989,916 (GRCm39) |
I14T |
possibly damaging |
Het |
Rdh12 |
A |
T |
12: 79,258,278 (GRCm39) |
T102S |
probably damaging |
Het |
Rsf1 |
T |
A |
7: 97,288,520 (GRCm39) |
C132* |
probably null |
Het |
Rufy1 |
G |
A |
11: 50,285,755 (GRCm39) |
L621F |
probably damaging |
Het |
Ruvbl2 |
C |
T |
7: 45,074,135 (GRCm39) |
R253H |
possibly damaging |
Het |
Sdf2 |
A |
G |
11: 78,145,819 (GRCm39) |
E172G |
probably damaging |
Het |
Skint5 |
C |
T |
4: 113,856,651 (GRCm39) |
|
probably null |
Het |
Slc25a27 |
A |
G |
17: 43,964,315 (GRCm39) |
I185T |
probably benign |
Het |
Slc41a3 |
A |
C |
6: 90,610,677 (GRCm39) |
K180Q |
probably benign |
Het |
Slc7a14 |
A |
C |
3: 31,291,598 (GRCm39) |
F227V |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,756,142 (GRCm39) |
|
probably benign |
Het |
St6galnac1 |
A |
T |
11: 116,656,689 (GRCm39) |
D483E |
probably damaging |
Het |
Tes |
A |
G |
6: 17,097,441 (GRCm39) |
K183R |
probably damaging |
Het |
Tgfbr1 |
G |
T |
4: 47,403,471 (GRCm39) |
D290Y |
probably damaging |
Het |
Tifab |
T |
A |
13: 56,324,164 (GRCm39) |
Y93F |
probably benign |
Het |
Tmem131l |
A |
G |
3: 83,848,196 (GRCm39) |
|
probably null |
Het |
Tnfrsf21 |
T |
A |
17: 43,396,265 (GRCm39) |
S516R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,606,389 (GRCm39) |
Y18140C |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,244,747 (GRCm39) |
S3692T |
probably damaging |
Het |
Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
Zfp113 |
T |
C |
5: 138,149,459 (GRCm39) |
|
probably benign |
Het |
Zfp26 |
T |
C |
9: 20,348,921 (GRCm39) |
T548A |
probably benign |
Het |
Zfp870 |
C |
T |
17: 33,102,990 (GRCm39) |
G114D |
probably damaging |
Het |
|
Other mutations in Cfap61 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02838:Cfap61
|
APN |
2 |
145,789,084 (GRCm39) |
nonsense |
probably null |
|
IGL03024:Cfap61
|
APN |
2 |
145,781,919 (GRCm39) |
splice site |
probably benign |
|
1mM(1):Cfap61
|
UTSW |
2 |
146,042,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R0006:Cfap61
|
UTSW |
2 |
145,919,232 (GRCm39) |
missense |
probably benign |
0.06 |
R0396:Cfap61
|
UTSW |
2 |
145,791,864 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0458:Cfap61
|
UTSW |
2 |
145,850,837 (GRCm39) |
missense |
probably benign |
0.08 |
R0477:Cfap61
|
UTSW |
2 |
145,781,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R0513:Cfap61
|
UTSW |
2 |
145,877,215 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1104:Cfap61
|
UTSW |
2 |
145,792,981 (GRCm39) |
nonsense |
probably null |
|
R1413:Cfap61
|
UTSW |
2 |
145,805,363 (GRCm39) |
missense |
probably benign |
0.27 |
R1599:Cfap61
|
UTSW |
2 |
145,854,083 (GRCm39) |
missense |
probably benign |
|
R1661:Cfap61
|
UTSW |
2 |
145,877,239 (GRCm39) |
splice site |
probably null |
|
R1665:Cfap61
|
UTSW |
2 |
145,877,239 (GRCm39) |
splice site |
probably null |
|
R1789:Cfap61
|
UTSW |
2 |
145,781,913 (GRCm39) |
critical splice donor site |
probably null |
|
R1800:Cfap61
|
UTSW |
2 |
145,884,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R2050:Cfap61
|
UTSW |
2 |
145,987,393 (GRCm39) |
missense |
probably benign |
0.26 |
R2202:Cfap61
|
UTSW |
2 |
146,056,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R2220:Cfap61
|
UTSW |
2 |
145,878,736 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2444:Cfap61
|
UTSW |
2 |
145,877,239 (GRCm39) |
splice site |
probably null |
|
R3779:Cfap61
|
UTSW |
2 |
145,792,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R4668:Cfap61
|
UTSW |
2 |
145,985,056 (GRCm39) |
missense |
probably damaging |
0.99 |
R4705:Cfap61
|
UTSW |
2 |
145,877,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R4763:Cfap61
|
UTSW |
2 |
145,859,287 (GRCm39) |
missense |
probably benign |
0.00 |
R4816:Cfap61
|
UTSW |
2 |
145,985,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R5067:Cfap61
|
UTSW |
2 |
145,943,956 (GRCm39) |
missense |
probably damaging |
0.99 |
R5120:Cfap61
|
UTSW |
2 |
145,985,080 (GRCm39) |
nonsense |
probably null |
|
R5308:Cfap61
|
UTSW |
2 |
145,951,908 (GRCm39) |
missense |
probably damaging |
0.99 |
R5575:Cfap61
|
UTSW |
2 |
145,859,313 (GRCm39) |
missense |
probably benign |
0.31 |
R5834:Cfap61
|
UTSW |
2 |
145,971,069 (GRCm39) |
missense |
probably benign |
0.29 |
R5959:Cfap61
|
UTSW |
2 |
145,789,053 (GRCm39) |
missense |
probably benign |
0.00 |
R6190:Cfap61
|
UTSW |
2 |
145,789,053 (GRCm39) |
missense |
probably benign |
0.00 |
R6283:Cfap61
|
UTSW |
2 |
145,971,022 (GRCm39) |
splice site |
probably null |
|
R6786:Cfap61
|
UTSW |
2 |
145,887,363 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6933:Cfap61
|
UTSW |
2 |
145,792,970 (GRCm39) |
splice site |
probably null |
|
R7071:Cfap61
|
UTSW |
2 |
145,843,832 (GRCm39) |
missense |
probably benign |
0.02 |
R7132:Cfap61
|
UTSW |
2 |
145,951,870 (GRCm39) |
missense |
probably damaging |
0.97 |
R7312:Cfap61
|
UTSW |
2 |
145,887,390 (GRCm39) |
nonsense |
probably null |
|
R7390:Cfap61
|
UTSW |
2 |
145,843,802 (GRCm39) |
missense |
probably benign |
0.00 |
R7446:Cfap61
|
UTSW |
2 |
145,995,758 (GRCm39) |
missense |
probably benign |
0.00 |
R7515:Cfap61
|
UTSW |
2 |
145,884,645 (GRCm39) |
missense |
unknown |
|
R7608:Cfap61
|
UTSW |
2 |
145,805,451 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7609:Cfap61
|
UTSW |
2 |
145,954,453 (GRCm39) |
missense |
unknown |
|
R7780:Cfap61
|
UTSW |
2 |
145,995,692 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7908:Cfap61
|
UTSW |
2 |
145,944,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R7938:Cfap61
|
UTSW |
2 |
145,887,376 (GRCm39) |
missense |
probably benign |
0.09 |
R8054:Cfap61
|
UTSW |
2 |
145,815,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R8153:Cfap61
|
UTSW |
2 |
146,042,704 (GRCm39) |
missense |
probably benign |
0.26 |
R8195:Cfap61
|
UTSW |
2 |
145,789,095 (GRCm39) |
missense |
probably benign |
|
R8224:Cfap61
|
UTSW |
2 |
145,781,800 (GRCm39) |
missense |
probably benign |
|
R8411:Cfap61
|
UTSW |
2 |
145,789,103 (GRCm39) |
missense |
probably benign |
0.01 |
R8702:Cfap61
|
UTSW |
2 |
146,042,710 (GRCm39) |
missense |
probably benign |
|
R8936:Cfap61
|
UTSW |
2 |
145,791,879 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9036:Cfap61
|
UTSW |
2 |
145,850,839 (GRCm39) |
missense |
probably benign |
0.05 |
R9079:Cfap61
|
UTSW |
2 |
145,781,859 (GRCm39) |
missense |
probably benign |
0.02 |
R9137:Cfap61
|
UTSW |
2 |
146,042,685 (GRCm39) |
missense |
probably benign |
0.01 |
R9184:Cfap61
|
UTSW |
2 |
145,919,308 (GRCm39) |
missense |
probably null |
1.00 |
R9423:Cfap61
|
UTSW |
2 |
145,985,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R9467:Cfap61
|
UTSW |
2 |
145,971,149 (GRCm39) |
missense |
probably benign |
|
R9477:Cfap61
|
UTSW |
2 |
145,985,032 (GRCm39) |
missense |
probably benign |
0.01 |
R9646:Cfap61
|
UTSW |
2 |
145,854,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R9688:Cfap61
|
UTSW |
2 |
145,878,758 (GRCm39) |
missense |
probably damaging |
0.98 |
X0022:Cfap61
|
UTSW |
2 |
145,971,010 (GRCm39) |
missense |
probably benign |
0.28 |
Z1088:Cfap61
|
UTSW |
2 |
145,971,147 (GRCm39) |
missense |
probably benign |
0.27 |
Z1177:Cfap61
|
UTSW |
2 |
145,995,720 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cfap61
|
UTSW |
2 |
145,854,082 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGTCACAAGGCACATCTCTGCTC -3'
(R):5'- GCACAGATTCTAAGGCAGGTCACTC -3'
Sequencing Primer
(F):5'- CAGTTTCAGGAGCAGACATTATAGAC -3'
(R):5'- tggaaaaggacaaggtggag -3'
|
Posted On |
2014-04-24 |