Incidental Mutation 'R9467:Cfap61'
ID |
715191 |
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 # |
R9467 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
145776704-146056959 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 145971149 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 920
(I920F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118411
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000125223]
[ENSMUST00000133433]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000125223
|
SMART Domains |
Protein: ENSMUSP00000121560 Gene: ENSMUSG00000037143
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133433
AA Change: I920F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118411 Gene: ENSMUSG00000037143 AA Change: I920F
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: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
C |
2: 68,423,934 (GRCm39) |
M46L |
|
Het |
Aars2 |
A |
G |
17: 45,827,410 (GRCm39) |
E484G |
probably benign |
Het |
Abcd2 |
C |
T |
15: 91,075,825 (GRCm39) |
|
probably benign |
Het |
Acap2 |
A |
G |
16: 30,929,901 (GRCm39) |
S361P |
possibly damaging |
Het |
Arap2 |
T |
C |
5: 62,887,900 (GRCm39) |
E482G |
probably benign |
Het |
Axin2 |
G |
T |
11: 108,833,782 (GRCm39) |
L576F |
possibly damaging |
Het |
B4galt2 |
T |
A |
4: 117,738,123 (GRCm39) |
Y161F |
probably damaging |
Het |
Cdh3 |
A |
T |
8: 107,266,425 (GRCm39) |
|
probably null |
Het |
Chaf1b |
T |
C |
16: 93,681,394 (GRCm39) |
I4T |
probably benign |
Het |
Clptm1 |
T |
C |
7: 19,371,449 (GRCm39) |
N328S |
probably benign |
Het |
Cthrc1 |
A |
G |
15: 38,947,689 (GRCm39) |
N136S |
probably benign |
Het |
Dlec1 |
G |
T |
9: 118,971,652 (GRCm39) |
R1279L |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,366,293 (GRCm39) |
T2669S |
possibly damaging |
Het |
Efcab14 |
C |
A |
4: 115,610,208 (GRCm39) |
L190I |
probably damaging |
Het |
Eml6 |
A |
T |
11: 29,769,076 (GRCm39) |
C690S |
probably damaging |
Het |
Fignl1 |
T |
C |
11: 11,751,483 (GRCm39) |
E524G |
probably damaging |
Het |
Fmo4 |
A |
G |
1: 162,631,238 (GRCm39) |
V243A |
probably benign |
Het |
Ghr |
A |
G |
15: 3,357,506 (GRCm39) |
V254A |
probably benign |
Het |
Igkv8-28 |
A |
G |
6: 70,120,691 (GRCm39) |
V84A |
probably damaging |
Het |
Itgb7 |
T |
C |
15: 102,131,989 (GRCm39) |
D198G |
probably damaging |
Het |
Klra2 |
A |
G |
6: 131,197,070 (GRCm39) |
|
probably null |
Het |
Klrc2 |
A |
T |
6: 129,633,363 (GRCm39) |
Y230N |
probably damaging |
Het |
Lacc1 |
A |
G |
14: 77,267,024 (GRCm39) |
V413A |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,508,331 (GRCm39) |
N6355S |
probably benign |
Het |
Ncor1 |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
11: 62,324,437 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
CTG |
CTGGTG |
11: 62,324,448 (GRCm39) |
|
probably benign |
Het |
Ndn |
A |
G |
7: 61,998,903 (GRCm39) |
K250E |
possibly damaging |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nt5e |
A |
G |
9: 88,249,416 (GRCm39) |
E450G |
probably benign |
Het |
Or4d6 |
A |
T |
19: 12,086,313 (GRCm39) |
M199K |
possibly damaging |
Het |
Or5p75-ps1 |
T |
A |
7: 108,107,790 (GRCm39) |
*176K |
probably null |
Het |
Or8k16 |
G |
T |
2: 85,520,626 (GRCm39) |
M284I |
|
Het |
Palld |
A |
G |
8: 61,968,264 (GRCm39) |
S1343P |
unknown |
Het |
Pcdha8 |
T |
A |
18: 37,126,843 (GRCm39) |
S442T |
possibly damaging |
Het |
Pole2 |
T |
C |
12: 69,255,719 (GRCm39) |
I349V |
probably benign |
Het |
Ptprb |
C |
T |
10: 116,158,390 (GRCm39) |
T487M |
probably benign |
Het |
Ptprc |
C |
T |
1: 137,993,960 (GRCm39) |
D1020N |
probably damaging |
Het |
Relch |
C |
T |
1: 105,669,039 (GRCm39) |
T1023I |
probably damaging |
Het |
Rnf26rt |
C |
T |
6: 76,473,615 (GRCm39) |
E334K |
probably benign |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGACGGCGGCG |
7: 97,229,120 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,571,490 (GRCm39) |
N4916S |
possibly damaging |
Het |
Selp |
C |
T |
1: 163,957,674 (GRCm39) |
P268S |
probably damaging |
Het |
Sema7a |
T |
A |
9: 57,864,608 (GRCm39) |
C333S |
probably damaging |
Het |
Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
Sh2b1 |
CAGCCACGGGGACCAGCT |
CAGCCACGGGGACCAGCTAAGCCACGGGGACCAGCT |
7: 126,066,754 (GRCm39) |
|
probably null |
Het |
Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
Shisa5 |
G |
A |
9: 108,867,712 (GRCm39) |
|
probably benign |
Het |
Snx27 |
A |
G |
3: 94,489,723 (GRCm39) |
V45A |
possibly damaging |
Het |
Srcap |
T |
C |
7: 127,139,531 (GRCm39) |
V1284A |
probably damaging |
Het |
Ssrp1 |
A |
G |
2: 84,872,610 (GRCm39) |
D416G |
probably damaging |
Het |
Tcstv1b |
C |
T |
13: 120,634,061 (GRCm39) |
|
probably benign |
Het |
Tectb |
A |
G |
19: 55,181,093 (GRCm39) |
Y144C |
|
Het |
Thap12 |
G |
T |
7: 98,359,348 (GRCm39) |
V76F |
probably damaging |
Het |
Ticam2 |
G |
C |
18: 46,693,748 (GRCm39) |
P113R |
probably damaging |
Het |
Tsg101 |
A |
G |
7: 46,558,772 (GRCm39) |
Y80H |
probably benign |
Het |
Unc5cl |
T |
A |
17: 48,770,656 (GRCm39) |
M368K |
probably damaging |
Het |
Utp20 |
G |
T |
10: 88,640,390 (GRCm39) |
Q717K |
possibly damaging |
Het |
Vmn1r159 |
T |
A |
7: 22,542,141 (GRCm39) |
D297V |
possibly damaging |
Het |
Vmn2r98 |
G |
T |
17: 19,287,517 (GRCm39) |
S450I |
probably benign |
Het |
Zbtb8b |
T |
C |
4: 129,326,319 (GRCm39) |
E282G |
probably benign |
Het |
Zfp831 |
T |
C |
2: 174,486,789 (GRCm39) |
V488A |
probably benign |
Het |
Zng1 |
T |
A |
19: 24,930,684 (GRCm39) |
M122L |
possibly damaging |
Het |
Zzef1 |
G |
A |
11: 72,807,251 (GRCm39) |
V2710I |
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 |
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 |
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 |
|
Posted On |
2022-06-15 |