Incidental Mutation 'R9688:Cfap61'
| ID |
728957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap61
|
| Ensembl Gene |
ENSMUSG00000037143 |
| Gene Name |
cilia and flagella associated protein 61 |
| Synonyms |
4930529M08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9688 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
145776704-146056959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 145878758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 505
(F505L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126415]
[ENSMUST00000133433]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126415
AA Change: F505L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118626
Gene: ENSMUSG00000037143
AA Change: F505L
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1b87a_
|
183 |
244 |
1e-5 |
SMART |
|
low complexity region
|
355 |
368 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133433
AA Change: F505L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118411
Gene: ENSMUSG00000037143
AA Change: F505L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
A |
G |
11: 23,469,067 (GRCm39) |
|
probably null |
Het |
| Abca2 |
G |
C |
2: 25,324,459 (GRCm39) |
A272P |
possibly damaging |
Het |
| Adarb1 |
T |
A |
10: 77,147,099 (GRCm39) |
D479V |
probably damaging |
Het |
| Amz2 |
T |
C |
11: 109,320,765 (GRCm39) |
F162S |
probably damaging |
Het |
| Ano4 |
A |
T |
10: 89,180,506 (GRCm39) |
M1K |
probably null |
Het |
| Antxr1 |
G |
A |
6: 87,114,334 (GRCm39) |
R478C |
probably damaging |
Het |
| Apobr |
T |
C |
7: 126,186,663 (GRCm39) |
S725P |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,872,109 (GRCm39) |
D506E |
probably damaging |
Het |
| Ash1l |
T |
G |
3: 88,892,024 (GRCm39) |
I1301S |
probably damaging |
Het |
| Camk1g |
T |
A |
1: 193,031,029 (GRCm39) |
R305W |
probably damaging |
Het |
| Ces2g |
A |
T |
8: 105,691,304 (GRCm39) |
I147F |
probably benign |
Het |
| Cndp1 |
G |
C |
18: 84,655,982 (GRCm39) |
N62K |
probably benign |
Het |
| Cog6 |
G |
T |
3: 52,916,528 (GRCm39) |
Q214K |
probably benign |
Het |
| Depdc5 |
T |
A |
5: 33,055,276 (GRCm39) |
Y226* |
probably null |
Het |
| Elp5 |
T |
A |
11: 69,861,425 (GRCm39) |
I185F |
probably damaging |
Het |
| Ercc6 |
A |
C |
14: 32,297,755 (GRCm39) |
H1334P |
probably benign |
Het |
| Ern1 |
T |
C |
11: 106,349,836 (GRCm39) |
T27A |
possibly damaging |
Het |
| Esf1 |
A |
T |
2: 140,010,095 (GRCm39) |
D80E |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,124,986 (GRCm39) |
K159E |
probably damaging |
Het |
| Gbx1 |
T |
C |
5: 24,731,510 (GRCm39) |
Y102C |
probably damaging |
Het |
| Gjd2 |
A |
G |
2: 113,842,109 (GRCm39) |
S123P |
probably benign |
Het |
| H2-M11 |
A |
G |
17: 36,859,054 (GRCm39) |
Y198C |
probably damaging |
Het |
| Hps1 |
A |
C |
19: 42,755,147 (GRCm39) |
V265G |
probably benign |
Het |
| Ifna16 |
C |
A |
4: 88,594,874 (GRCm39) |
E74* |
probably null |
Het |
| Inca1 |
C |
T |
11: 70,579,810 (GRCm39) |
|
probably null |
Het |
| Jag2 |
A |
G |
12: 112,872,564 (GRCm39) |
V1230A |
probably benign |
Het |
| Jam3 |
G |
A |
9: 27,010,204 (GRCm39) |
T260M |
probably benign |
Het |
| Klhl5 |
A |
T |
5: 65,321,930 (GRCm39) |
D652V |
probably damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,790,697 (GRCm39) |
I81L |
possibly damaging |
Het |
| Lgalsl |
C |
T |
11: 20,779,442 (GRCm39) |
A68T |
probably benign |
Het |
| Map3k14 |
T |
A |
11: 103,130,059 (GRCm39) |
D286V |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,745,590 (GRCm39) |
I4083V |
probably damaging |
Het |
| Ms4a5 |
T |
C |
19: 11,254,058 (GRCm39) |
I136M |
possibly damaging |
Het |
| Mtcl3 |
T |
C |
10: 29,072,691 (GRCm39) |
V661A |
possibly damaging |
Het |
| Naa16 |
A |
T |
14: 79,573,309 (GRCm39) |
Y820* |
probably null |
Het |
| Nbea |
G |
T |
3: 55,557,165 (GRCm39) |
N2537K |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,967,349 (GRCm39) |
S562G |
probably benign |
Het |
| Or5t5 |
A |
C |
2: 86,617,005 (GRCm39) |
K310N |
probably damaging |
Het |
| Or6c1b |
C |
A |
10: 129,272,967 (GRCm39) |
C95* |
probably null |
Het |
| Pcdhac2 |
A |
G |
18: 37,277,628 (GRCm39) |
S203G |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,812,196 (GRCm39) |
F309I |
probably benign |
Het |
| Pdzd8 |
G |
A |
19: 59,333,683 (GRCm39) |
L113F |
probably benign |
Het |
| Pex12 |
T |
C |
11: 83,189,257 (GRCm39) |
Y4C |
possibly damaging |
Het |
| Ppfibp2 |
A |
G |
7: 107,318,448 (GRCm39) |
D332G |
probably benign |
Het |
| Psg23 |
A |
T |
7: 18,344,547 (GRCm39) |
W303R |
probably damaging |
Het |
| Pyy |
T |
A |
11: 101,998,099 (GRCm39) |
D27V |
probably damaging |
Het |
| Rc3h1 |
A |
G |
1: 160,770,234 (GRCm39) |
Q302R |
probably damaging |
Het |
| Rhoh |
A |
G |
5: 66,049,656 (GRCm39) |
|
probably benign |
Het |
| Samd9l |
A |
G |
6: 3,377,087 (GRCm39) |
M58T |
probably damaging |
Het |
| Scaf11 |
A |
C |
15: 96,313,808 (GRCm39) |
H1324Q |
probably damaging |
Het |
| Serinc2 |
C |
A |
4: 130,158,133 (GRCm39) |
A105S |
probably damaging |
Het |
| Setx |
A |
T |
2: 29,036,328 (GRCm39) |
S938C |
probably damaging |
Het |
| Sgo2a |
A |
T |
1: 58,056,737 (GRCm39) |
T974S |
probably damaging |
Het |
| Sh3rf1 |
T |
C |
8: 61,679,348 (GRCm39) |
V130A |
probably benign |
Het |
| Slc43a2 |
T |
C |
11: 75,434,112 (GRCm39) |
F97L |
probably damaging |
Het |
| Slc9a9 |
C |
A |
9: 95,111,107 (GRCm39) |
Q642K |
probably benign |
Het |
| Sox6 |
G |
T |
7: 115,076,225 (GRCm39) |
D804E |
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,233,708 (GRCm39) |
R290S |
possibly damaging |
Het |
| Tent4a |
A |
G |
13: 69,655,199 (GRCm39) |
L425P |
probably damaging |
Het |
| Terf2 |
A |
G |
8: 107,821,543 (GRCm39) |
S176P |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,720,602 (GRCm39) |
H956L |
possibly damaging |
Het |
| Tti2 |
T |
C |
8: 31,644,279 (GRCm39) |
V292A |
probably damaging |
Het |
| Vmn1r29 |
A |
T |
6: 58,284,739 (GRCm39) |
E153V |
probably benign |
Het |
| Vmn1r55 |
G |
T |
7: 5,149,669 (GRCm39) |
H251Q |
probably benign |
Het |
| Yeats4 |
T |
C |
10: 117,051,586 (GRCm39) |
T224A |
probably benign |
Het |
| Yipf4 |
T |
A |
17: 74,806,078 (GRCm39) |
F239Y |
probably benign |
Het |
| Zan |
T |
C |
5: 137,466,717 (GRCm39) |
D380G |
probably damaging |
Het |
| Zbtb9 |
T |
C |
17: 27,193,894 (GRCm39) |
F433S |
probably damaging |
Het |
| Zic5 |
T |
C |
14: 122,701,435 (GRCm39) |
K432R |
unknown |
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 |
|
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 |
|
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'- AGGTTCTCCCTTCTAAGGTCG -3'
(R):5'- GGGAAGACATGTTGGTGACC -3'
Sequencing Primer
(F):5'- TCTTCAAGAGAACTGGGCTCAG -3'
(R):5'- ACATGTTGGTGACCATGTATTTCAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation