Incidental Mutation 'R7515:Cfap61'
| ID |
582376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap61
|
| Ensembl Gene |
ENSMUSG00000037143 |
| Gene Name |
cilia and flagella associated protein 61 |
| Synonyms |
4930529M08Rik |
| MMRRC Submission |
045588-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7515 (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 A
at 145884645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 614
(D614E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000125223]
[ENSMUST00000126415]
[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 |
unknown
Transcript: ENSMUST00000126415
AA Change: D614E
|
| SMART Domains |
Protein: ENSMUSP00000118626
Gene: ENSMUSG00000037143
AA Change: D614E
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1b87a_
|
183 |
244 |
1e-5 |
SMART |
|
low complexity region
|
355 |
368 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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 |
|---|
| Ankrd36 |
A |
T |
11: 5,578,905 (GRCm39) |
E56D |
possibly damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,805,514 (GRCm39) |
Y182C |
probably damaging |
Het |
| Anxa3 |
A |
T |
5: 96,986,179 (GRCm39) |
N273Y |
probably damaging |
Het |
| Apobec2 |
T |
C |
17: 48,730,015 (GRCm39) |
E217G |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 102,993,882 (GRCm39) |
|
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,279,240 (GRCm39) |
H374R |
possibly damaging |
Het |
| Camsap2 |
T |
C |
1: 136,273,108 (GRCm39) |
D23G |
probably damaging |
Het |
| Ccr2 |
T |
C |
9: 123,906,197 (GRCm39) |
V159A |
probably damaging |
Het |
| Crb2 |
G |
A |
2: 37,673,412 (GRCm39) |
G103R |
probably damaging |
Het |
| Cyp2b9 |
A |
G |
7: 25,898,596 (GRCm39) |
Y317C |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,379,508 (GRCm39) |
V860A |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,672,815 (GRCm39) |
D553G |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,496,450 (GRCm39) |
S112P |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,732,240 (GRCm39) |
F4222S |
probably benign |
Het |
| Ei24 |
T |
C |
9: 36,701,211 (GRCm39) |
D36G |
probably damaging |
Het |
| Etv3 |
G |
T |
3: 87,435,363 (GRCm39) |
R78L |
possibly damaging |
Het |
| Fbxo34 |
T |
C |
14: 47,767,798 (GRCm39) |
L437P |
possibly damaging |
Het |
| Foxn1 |
T |
C |
11: 78,261,970 (GRCm39) |
D133G |
possibly damaging |
Het |
| Gabra1 |
T |
A |
11: 42,045,660 (GRCm39) |
D150V |
possibly damaging |
Het |
| Gpr158 |
T |
C |
2: 21,373,092 (GRCm39) |
L9P |
probably damaging |
Het |
| H2-M10.3 |
G |
A |
17: 36,677,435 (GRCm39) |
T281I |
probably damaging |
Het |
| Il18r1 |
T |
C |
1: 40,537,830 (GRCm39) |
S532P |
not run |
Het |
| Itpr2 |
T |
C |
6: 146,228,608 (GRCm39) |
D1329G |
probably damaging |
Het |
| Jakmip2 |
A |
T |
18: 43,704,191 (GRCm39) |
N384K |
probably benign |
Het |
| Kdsr |
A |
G |
1: 106,662,290 (GRCm39) |
V255A |
possibly damaging |
Het |
| Kifc1 |
A |
G |
17: 34,103,777 (GRCm39) |
L182P |
probably damaging |
Het |
| Lgals8 |
G |
A |
13: 12,463,343 (GRCm39) |
R198* |
probably null |
Het |
| Lrrk1 |
A |
T |
7: 65,912,310 (GRCm39) |
M1750K |
probably benign |
Het |
| Lrsam1 |
A |
G |
2: 32,830,251 (GRCm39) |
|
probably null |
Het |
| Lztr1 |
C |
T |
16: 17,327,525 (GRCm39) |
A76V |
possibly damaging |
Het |
| Mcc |
G |
T |
18: 44,626,499 (GRCm39) |
H366N |
probably benign |
Het |
| Mif4gd |
A |
G |
11: 115,499,222 (GRCm39) |
V220A |
possibly damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,270,037 (GRCm39) |
F708L |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,550,958 (GRCm39) |
W5112R |
probably benign |
Het |
| Ndrg2 |
A |
G |
14: 52,146,380 (GRCm39) |
I140T |
probably benign |
Het |
| Nid2 |
C |
A |
14: 19,841,635 (GRCm39) |
Q887K |
probably benign |
Het |
| Nop16 |
A |
T |
13: 54,737,550 (GRCm39) |
S48T |
possibly damaging |
Het |
| Nrap |
G |
A |
19: 56,354,859 (GRCm39) |
T489I |
possibly damaging |
Het |
| Oas1e |
C |
T |
5: 120,929,951 (GRCm39) |
G189D |
probably damaging |
Het |
| Or4a39 |
A |
G |
2: 89,237,250 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Or7g34 |
A |
T |
9: 19,477,949 (GRCm39) |
C244S |
probably damaging |
Het |
| Pcdha5 |
A |
T |
18: 37,095,171 (GRCm39) |
D560V |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
C |
T |
16: 45,594,603 (GRCm39) |
D901N |
possibly damaging |
Het |
| Piezo1 |
T |
C |
8: 123,212,035 (GRCm39) |
H2058R |
|
Het |
| Ptgis |
T |
A |
2: 167,048,758 (GRCm39) |
K419N |
possibly damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,022,266 (GRCm39) |
F1714L |
probably damaging |
Het |
| Rasa2 |
T |
C |
9: 96,434,353 (GRCm39) |
|
probably null |
Het |
| Recql |
C |
T |
6: 142,320,611 (GRCm39) |
D146N |
probably damaging |
Het |
| Rnf6 |
T |
G |
5: 146,148,602 (GRCm39) |
S139R |
probably damaging |
Het |
| Rock1 |
A |
G |
18: 10,067,631 (GRCm39) |
S1301P |
probably damaging |
Het |
| Safb2 |
A |
G |
17: 56,889,982 (GRCm39) |
|
probably null |
Het |
| Setd5 |
T |
A |
6: 113,087,850 (GRCm39) |
I137N |
probably damaging |
Het |
| Sf3b6 |
G |
A |
12: 4,870,619 (GRCm39) |
R19Q |
probably damaging |
Het |
| Slc15a5 |
T |
A |
6: 138,020,496 (GRCm39) |
H279L |
possibly damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,681,711 (GRCm39) |
T175A |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,470,820 (GRCm39) |
N36I |
probably damaging |
Het |
| Supv3l1 |
A |
C |
10: 62,268,090 (GRCm39) |
F585C |
probably damaging |
Het |
| Tnrc6c |
G |
T |
11: 117,632,507 (GRCm39) |
V1070L |
probably benign |
Het |
| Vmn2r53 |
T |
A |
7: 12,315,846 (GRCm39) |
M658L |
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,546,349 (GRCm39) |
D150G |
unknown |
Het |
| Zfp607b |
T |
C |
7: 27,402,921 (GRCm39) |
V459A |
probably benign |
Het |
| Zfp653 |
T |
C |
9: 21,982,427 (GRCm39) |
R71G |
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 |
|
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'- AACCATTTTGCCCTGAACCC -3'
(R):5'- GAAACGATGTGCTGTTCCTG -3'
Sequencing Primer
(F):5'- TGAACCCCATTTTCCGACAC -3'
(R):5'- CGATGTGCTGTTCCTGTGTCTTAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation