Incidental Mutation 'R6283:Cfap61'
ID |
508033 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap61
|
Ensembl Gene |
ENSMUSG00000037143 |
Gene Name |
cilia and flagella associated protein 61 |
Synonyms |
4930529M08Rik |
MMRRC Submission |
044453-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6283 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
145776704-146056959 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to A
at 145971022 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121560
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000125223]
[ENSMUST00000133433]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
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: S877R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000118411 Gene: ENSMUSG00000037143 AA Change: S877R
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150771
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf3 |
C |
A |
8: 123,512,694 (GRCm39) |
R372S |
probably damaging |
Het |
Adamts20 |
A |
G |
15: 94,249,602 (GRCm39) |
S472P |
probably benign |
Het |
Bhlhe40 |
T |
C |
6: 108,641,992 (GRCm39) |
L312P |
probably damaging |
Het |
Ccdc180 |
A |
G |
4: 45,902,486 (GRCm39) |
E305G |
possibly damaging |
Het |
Ccdc83 |
T |
A |
7: 89,885,615 (GRCm39) |
R257* |
probably null |
Het |
Cd209e |
G |
A |
8: 3,899,212 (GRCm39) |
Q167* |
probably null |
Het |
Cd300e |
G |
A |
11: 114,945,380 (GRCm39) |
T138I |
probably benign |
Het |
Ces2c |
A |
T |
8: 105,576,331 (GRCm39) |
M115L |
probably benign |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Cic |
C |
T |
7: 24,985,459 (GRCm39) |
S301L |
probably damaging |
Het |
Cks2 |
A |
G |
13: 51,799,495 (GRCm39) |
H16R |
probably benign |
Het |
Copa |
A |
T |
1: 171,946,415 (GRCm39) |
H953L |
possibly damaging |
Het |
Ctdsp2 |
T |
C |
10: 126,831,749 (GRCm39) |
V145A |
possibly damaging |
Het |
Cyp2j13 |
A |
G |
4: 95,945,074 (GRCm39) |
V377A |
possibly damaging |
Het |
Dhx57 |
A |
G |
17: 80,582,234 (GRCm39) |
V404A |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,598,152 (GRCm39) |
S340G |
probably damaging |
Het |
Ggps1 |
A |
G |
13: 14,232,379 (GRCm39) |
|
probably null |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm11444 |
T |
C |
11: 85,737,617 (GRCm39) |
|
probably null |
Het |
Grina |
A |
G |
15: 76,132,751 (GRCm39) |
T173A |
possibly damaging |
Het |
Hcrtr1 |
G |
A |
4: 130,029,133 (GRCm39) |
T223I |
probably benign |
Het |
Igsf10 |
T |
A |
3: 59,226,870 (GRCm39) |
T2268S |
probably damaging |
Het |
Inhca |
G |
A |
9: 103,159,834 (GRCm39) |
R14* |
probably null |
Het |
Ino80d |
C |
T |
1: 63,101,285 (GRCm39) |
R447Q |
probably damaging |
Het |
Inpp4b |
C |
T |
8: 82,497,462 (GRCm39) |
T94M |
probably damaging |
Het |
Itga2 |
A |
G |
13: 115,005,786 (GRCm39) |
Y465H |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,900,767 (GRCm39) |
T823A |
probably damaging |
Het |
Krtap4-16 |
A |
G |
11: 99,741,861 (GRCm39) |
S180P |
unknown |
Het |
Ldc1 |
A |
G |
4: 130,115,534 (GRCm39) |
S5P |
probably benign |
Het |
Lpar6 |
A |
T |
14: 73,476,297 (GRCm39) |
D86V |
probably damaging |
Het |
Muc5ac |
C |
A |
7: 141,370,601 (GRCm39) |
C2500* |
probably null |
Het |
Mzf1 |
T |
C |
7: 12,787,296 (GRCm39) |
|
probably benign |
Het |
Or4f58 |
A |
C |
2: 111,851,605 (GRCm39) |
M198R |
possibly damaging |
Het |
Or5d46 |
T |
A |
2: 88,170,002 (GRCm39) |
I31N |
probably benign |
Het |
Or5m3 |
G |
T |
2: 85,838,443 (GRCm39) |
V108L |
possibly damaging |
Het |
Or7a36 |
T |
C |
10: 78,820,113 (GRCm39) |
V163A |
probably benign |
Het |
Otogl |
T |
G |
10: 107,626,361 (GRCm39) |
E1501A |
probably damaging |
Het |
Pcdh10 |
T |
A |
3: 45,335,989 (GRCm39) |
S768T |
possibly damaging |
Het |
Pcnx2 |
G |
T |
8: 126,604,325 (GRCm39) |
Q644K |
probably damaging |
Het |
Pdzd9 |
T |
A |
7: 120,259,449 (GRCm39) |
I180F |
possibly damaging |
Het |
Pinx1 |
A |
C |
14: 64,115,621 (GRCm39) |
N152T |
probably benign |
Het |
Prr14l |
T |
C |
5: 32,987,608 (GRCm39) |
E629G |
probably benign |
Het |
Qpctl |
T |
A |
7: 18,882,345 (GRCm39) |
I104F |
probably benign |
Het |
Rabep1 |
C |
T |
11: 70,808,505 (GRCm39) |
A444V |
probably damaging |
Het |
Rnf150 |
A |
G |
8: 83,717,183 (GRCm39) |
Y230C |
probably damaging |
Het |
Slc25a27 |
A |
C |
17: 43,968,621 (GRCm39) |
V152G |
probably damaging |
Het |
Swt1 |
A |
G |
1: 151,260,084 (GRCm39) |
S772P |
possibly damaging |
Het |
Tenm4 |
A |
G |
7: 96,523,701 (GRCm39) |
T1711A |
probably benign |
Het |
Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
Tmem265 |
T |
G |
7: 127,164,044 (GRCm39) |
V86G |
possibly damaging |
Het |
Trpm8 |
C |
T |
1: 88,276,054 (GRCm39) |
H551Y |
probably benign |
Het |
Ttc6 |
T |
G |
12: 57,749,048 (GRCm39) |
Y1327D |
possibly damaging |
Het |
Uevld |
G |
T |
7: 46,587,729 (GRCm39) |
Q324K |
possibly damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r73 |
C |
T |
7: 85,521,049 (GRCm39) |
M306I |
probably benign |
Het |
Vmn2r93 |
T |
A |
17: 18,524,366 (GRCm39) |
M120K |
probably benign |
Het |
Zfp804b |
T |
A |
5: 6,819,908 (GRCm39) |
I1016F |
probably benign |
Het |
Zfp90 |
T |
C |
8: 107,152,026 (GRCm39) |
C580R |
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 |
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'- GCTTCCTGCAGCTGAGAAATG -3'
(R):5'- CAGTAAGTGTGGTTCATGCG -3'
Sequencing Primer
(F):5'- AGGGAGCAATTTGGCATTATTAGC -3'
(R):5'- TGCGGATGGACTTACTGAACACTC -3'
|
Posted On |
2018-03-15 |