Incidental Mutation 'R2220:Cfap61'
| ID |
241402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap61
|
| Ensembl Gene |
ENSMUSG00000037143 |
| Gene Name |
cilia and flagella associated protein 61 |
| Synonyms |
4930529M08Rik |
| MMRRC Submission |
040222-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2220 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
145776704-146056959 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
G to A
at 145878736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126415]
[ENSMUST00000133433]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000126415
|
| SMART Domains |
Protein: ENSMUSP00000118626
Gene: ENSMUSG00000037143
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1b87a_
|
183 |
244 |
1e-5 |
SMART |
|
low complexity region
|
355 |
368 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000133433
|
| SMART Domains |
Protein: ENSMUSP00000118411
Gene: ENSMUSG00000037143
| 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: ENSMUST00000155214
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
C |
4: 144,344,572 (GRCm39) |
I116T |
probably damaging |
Het |
| Aatk |
G |
T |
11: 119,903,003 (GRCm39) |
F407L |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,917,681 (GRCm39) |
L1586Q |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,388,289 (GRCm39) |
|
probably null |
Het |
| Ap5m1 |
A |
G |
14: 49,318,552 (GRCm39) |
D420G |
probably damaging |
Het |
| Bcl6 |
A |
T |
16: 23,791,382 (GRCm39) |
L324* |
probably null |
Het |
| Bicc1 |
A |
G |
10: 70,785,955 (GRCm39) |
S396P |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 36,929,679 (GRCm39) |
|
probably null |
Het |
| Ccdc83 |
G |
A |
7: 89,908,722 (GRCm39) |
S4L |
probably damaging |
Het |
| Cdkal1 |
T |
A |
13: 29,538,741 (GRCm39) |
M473L |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,881,178 (GRCm39) |
H363R |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,943,184 (GRCm39) |
I1614V |
probably damaging |
Het |
| Cluh |
T |
A |
11: 74,557,947 (GRCm39) |
F1062I |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,508,369 (GRCm39) |
T1294S |
possibly damaging |
Het |
| Cops8 |
A |
C |
1: 90,534,341 (GRCm39) |
N94T |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,042,641 (GRCm39) |
D2364G |
possibly damaging |
Het |
| Cyb5d1 |
T |
C |
11: 69,285,871 (GRCm39) |
D55G |
probably benign |
Het |
| Cyp2c29 |
A |
T |
19: 39,275,676 (GRCm39) |
I39F |
probably benign |
Het |
| Cyp2j8 |
T |
C |
4: 96,332,862 (GRCm39) |
S495G |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,916,703 (GRCm39) |
L575P |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,560,333 (GRCm39) |
V2113I |
probably benign |
Het |
| Dusp3 |
T |
C |
11: 101,865,631 (GRCm39) |
N95D |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fer1l4 |
T |
G |
2: 155,873,684 (GRCm39) |
Y1207S |
probably damaging |
Het |
| Flg2 |
T |
G |
3: 93,109,492 (GRCm39) |
S507A |
unknown |
Het |
| Gdf6 |
A |
G |
4: 9,844,770 (GRCm39) |
H98R |
probably damaging |
Het |
| Ggnbp2 |
T |
C |
11: 84,727,439 (GRCm39) |
N63S |
possibly damaging |
Het |
| Ggt7 |
A |
G |
2: 155,337,639 (GRCm39) |
S504P |
probably damaging |
Het |
| Gtf2h5 |
G |
A |
17: 6,134,853 (GRCm39) |
E48K |
probably benign |
Het |
| Hivep3 |
T |
G |
4: 119,591,235 (GRCm39) |
V81G |
possibly damaging |
Het |
| Igsf21 |
A |
G |
4: 139,755,425 (GRCm39) |
M410T |
probably damaging |
Het |
| Insrr |
T |
C |
3: 87,716,725 (GRCm39) |
L651P |
probably damaging |
Het |
| Iqcb1 |
A |
T |
16: 36,663,824 (GRCm39) |
|
probably null |
Het |
| Klhdc7a |
G |
A |
4: 139,692,764 (GRCm39) |
R728C |
probably benign |
Het |
| Lars2 |
T |
C |
9: 123,247,845 (GRCm39) |
L334P |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,233,607 (GRCm39) |
E994G |
probably damaging |
Het |
| Mertk |
T |
A |
2: 128,643,392 (GRCm39) |
N930K |
probably benign |
Het |
| Mettl21a |
A |
T |
1: 64,655,442 (GRCm39) |
V46E |
probably damaging |
Het |
| Nedd4 |
T |
A |
9: 72,643,989 (GRCm39) |
C614S |
probably damaging |
Het |
| Or13a19 |
T |
C |
7: 139,903,484 (GRCm39) |
S291P |
probably benign |
Het |
| Or2l13b |
A |
T |
16: 19,348,895 (GRCm39) |
Y258* |
probably null |
Het |
| Or5k1 |
G |
T |
16: 58,617,987 (GRCm39) |
A74D |
possibly damaging |
Het |
| Pard3b |
C |
T |
1: 62,518,842 (GRCm39) |
R976* |
probably null |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,020 (GRCm39) |
T327A |
probably benign |
Het |
| Pira12 |
A |
T |
7: 3,900,488 (GRCm39) |
N87K |
probably benign |
Het |
| Ppp1r37 |
C |
A |
7: 19,266,371 (GRCm39) |
R465L |
probably null |
Het |
| Ppp3ca |
C |
A |
3: 136,503,685 (GRCm39) |
T86K |
probably damaging |
Het |
| Ralgapa2 |
G |
A |
2: 146,263,599 (GRCm39) |
T706I |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,327,254 (GRCm39) |
L1747P |
possibly damaging |
Het |
| Slc11a1 |
T |
A |
1: 74,419,824 (GRCm39) |
F166I |
probably damaging |
Het |
| Slc25a18 |
G |
A |
6: 120,770,518 (GRCm39) |
|
probably null |
Het |
| Stt3a |
A |
G |
9: 36,660,847 (GRCm39) |
|
probably null |
Het |
| Supt16 |
G |
A |
14: 52,409,601 (GRCm39) |
R770* |
probably null |
Het |
| Syde2 |
A |
G |
3: 145,707,713 (GRCm39) |
I551V |
probably benign |
Het |
| Tasor2 |
A |
T |
13: 3,631,872 (GRCm39) |
N876K |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,303,326 (GRCm39) |
D102G |
probably damaging |
Het |
| Tmc7 |
A |
T |
7: 118,152,039 (GRCm39) |
I294N |
possibly damaging |
Het |
| Tmem174 |
T |
C |
13: 98,773,767 (GRCm39) |
Y21C |
probably damaging |
Het |
| Tomm40l |
A |
T |
1: 171,049,550 (GRCm39) |
L13* |
probably null |
Het |
| Trim30c |
A |
G |
7: 104,032,474 (GRCm39) |
V284A |
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,312,749 (GRCm39) |
N353K |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,904,890 (GRCm39) |
V79M |
probably damaging |
Het |
| Wfdc18 |
C |
T |
11: 83,600,739 (GRCm39) |
R45* |
probably null |
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 |
|
R1591:Cfap61
|
UTSW |
2 |
145,987,378 (GRCm39) |
missense |
probably benign |
0.17 |
|
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 |
|
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'- ACTTGAAGGAGTGTTCTCTAAGAC -3'
(R):5'- GCAATAATGCTTCAAAGAGGCAC -3'
Sequencing Primer
(F):5'- TCTTCAAGAGAACTGGGCTCAG -3'
(R):5'- CTTCAAAGAGGCACGACGTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation