Incidental Mutation 'R7446:Cfap61'
ID |
577276 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap61
|
Ensembl Gene |
ENSMUSG00000037143 |
Gene Name |
cilia and flagella associated protein 61 |
Synonyms |
4930529M08Rik |
MMRRC Submission |
045522-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7446 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
145776704-146056959 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 145995758 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 1108
(R1108C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118411
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133433]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000133433
AA Change: R1108C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000118411 Gene: ENSMUSG00000037143 AA Change: R1108C
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (67/67) |
Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,950,441 (GRCm39) |
D1446G |
probably benign |
Het |
Adgrg1 |
A |
G |
8: 95,738,412 (GRCm39) |
Y635C |
probably damaging |
Het |
Akr1cl |
G |
A |
1: 65,055,837 (GRCm39) |
R222W |
probably damaging |
Het |
C2 |
G |
A |
17: 35,094,986 (GRCm39) |
R250C |
probably damaging |
Het |
Cdk15 |
A |
G |
1: 59,328,854 (GRCm39) |
Y254C |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,791,874 (GRCm39) |
T2576A |
possibly damaging |
Het |
Clca3a1 |
A |
G |
3: 144,733,188 (GRCm39) |
S107P |
possibly damaging |
Het |
Cplane1 |
A |
G |
15: 8,261,564 (GRCm39) |
D2460G |
probably damaging |
Het |
Cpsf1 |
A |
G |
15: 76,485,950 (GRCm39) |
S407P |
probably benign |
Het |
Crisp4 |
T |
C |
1: 18,192,962 (GRCm39) |
T252A |
probably damaging |
Het |
Ctbs |
A |
G |
3: 146,164,573 (GRCm39) |
Y242C |
probably damaging |
Het |
Cul4a |
A |
G |
8: 13,186,874 (GRCm39) |
T537A |
probably benign |
Het |
D930020B18Rik |
T |
C |
10: 121,503,650 (GRCm39) |
I275T |
possibly damaging |
Het |
Dcaf7 |
T |
C |
11: 105,944,561 (GRCm39) |
V248A |
probably benign |
Het |
Def8 |
T |
C |
8: 124,181,061 (GRCm39) |
C153R |
probably damaging |
Het |
Dennd1a |
A |
T |
2: 37,706,991 (GRCm39) |
V505D |
possibly damaging |
Het |
Dpysl5 |
A |
C |
5: 30,936,231 (GRCm39) |
D207A |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,041,720 (GRCm39) |
S3307R |
probably benign |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Erf |
A |
T |
7: 24,945,556 (GRCm39) |
C72S |
probably damaging |
Het |
Fastkd3 |
A |
T |
13: 68,740,079 (GRCm39) |
H47L |
unknown |
Het |
Gm5591 |
C |
T |
7: 38,218,933 (GRCm39) |
E647K |
probably benign |
Het |
Gng12 |
TGTCCAGCAAG |
TG |
6: 66,992,736 (GRCm39) |
|
probably benign |
Het |
Guk1 |
T |
C |
11: 59,076,850 (GRCm39) |
T78A |
probably benign |
Het |
Hephl1 |
T |
C |
9: 15,009,347 (GRCm39) |
T82A |
probably damaging |
Het |
Htra4 |
A |
G |
8: 25,527,181 (GRCm39) |
S205P |
probably benign |
Het |
Jakmip2 |
T |
C |
18: 43,710,390 (GRCm39) |
D271G |
probably damaging |
Het |
Krt16 |
CAGTATCTG |
C |
11: 100,137,610 (GRCm39) |
|
probably null |
Het |
Lrp1b |
T |
A |
2: 41,561,069 (GRCm39) |
E286V |
|
Het |
Lrp2 |
C |
A |
2: 69,262,557 (GRCm39) |
G4415W |
probably damaging |
Het |
Lrp2 |
C |
T |
2: 69,290,018 (GRCm39) |
R3607H |
probably damaging |
Het |
Mcph1 |
A |
G |
8: 18,721,109 (GRCm39) |
K646E |
probably benign |
Het |
Mgam |
T |
C |
6: 40,723,266 (GRCm39) |
L457P |
probably damaging |
Het |
Mink1 |
T |
A |
11: 70,500,455 (GRCm39) |
S802T |
probably benign |
Het |
Mrgprb5 |
C |
T |
7: 47,818,252 (GRCm39) |
G161E |
possibly damaging |
Het |
Mroh1 |
G |
A |
15: 76,336,472 (GRCm39) |
G1565D |
possibly damaging |
Het |
Mynn |
A |
G |
3: 30,661,201 (GRCm39) |
K51R |
probably benign |
Het |
Myo1b |
A |
G |
1: 51,803,065 (GRCm39) |
F872S |
possibly damaging |
Het |
Nbas |
A |
T |
12: 13,443,499 (GRCm39) |
T1185S |
probably benign |
Het |
Oas1d |
A |
T |
5: 121,058,054 (GRCm39) |
I333L |
probably benign |
Het |
Or10ak9 |
A |
T |
4: 118,726,019 (GRCm39) |
I14F |
possibly damaging |
Het |
Or4d10 |
A |
G |
19: 12,051,061 (GRCm39) |
*312Q |
probably null |
Het |
P2ry12 |
A |
G |
3: 59,124,632 (GRCm39) |
*348Q |
probably null |
Het |
Pik3cb |
A |
T |
9: 98,928,711 (GRCm39) |
V848E |
probably damaging |
Het |
Plcz1 |
A |
C |
6: 139,959,312 (GRCm39) |
S282A |
possibly damaging |
Het |
Prss46 |
A |
G |
9: 110,679,189 (GRCm39) |
D130G |
probably damaging |
Het |
Pygl |
T |
C |
12: 70,243,784 (GRCm39) |
I644V |
probably benign |
Het |
Ralgds |
T |
A |
2: 28,435,901 (GRCm39) |
S509T |
probably damaging |
Het |
Rdh16f2 |
A |
G |
10: 127,712,767 (GRCm39) |
D255G |
probably benign |
Het |
Scaf4 |
T |
C |
16: 90,055,658 (GRCm39) |
D133G |
unknown |
Het |
Sdk1 |
G |
A |
5: 142,130,731 (GRCm39) |
S1630N |
probably damaging |
Het |
Sema5b |
C |
T |
16: 35,467,573 (GRCm39) |
T279I |
probably damaging |
Het |
Slc24a3 |
T |
A |
2: 145,422,902 (GRCm39) |
L207H |
probably damaging |
Het |
Speer2 |
A |
T |
16: 69,654,965 (GRCm39) |
S167T |
possibly damaging |
Het |
Spock1 |
A |
G |
13: 57,583,898 (GRCm39) |
I339T |
unknown |
Het |
Srsf6 |
T |
A |
2: 162,776,636 (GRCm39) |
S327T |
unknown |
Het |
Syne1 |
T |
A |
10: 5,172,266 (GRCm39) |
E5058D |
probably benign |
Het |
Tcf19 |
A |
G |
17: 35,825,428 (GRCm39) |
V243A |
probably benign |
Het |
Tspan15 |
T |
C |
10: 62,029,734 (GRCm39) |
D122G |
probably benign |
Het |
Ttc17 |
C |
T |
2: 94,205,495 (GRCm39) |
V284M |
probably damaging |
Het |
Usp29 |
A |
C |
7: 6,964,219 (GRCm39) |
T21P |
possibly damaging |
Het |
Uspl1 |
T |
A |
5: 149,141,082 (GRCm39) |
C360* |
probably null |
Het |
Vmn1r181 |
A |
C |
7: 23,684,356 (GRCm39) |
S274R |
probably benign |
Het |
Xrcc5 |
T |
C |
1: 72,433,132 (GRCm39) |
|
probably null |
Het |
Zfp277 |
C |
T |
12: 40,378,729 (GRCm39) |
R376H |
probably damaging |
Het |
Zfp629 |
T |
C |
7: 127,210,201 (GRCm39) |
E536G |
probably benign |
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 |
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'- CAAGTTGAGGGATGTTCTGGATAC -3'
(R):5'- TTGTAACAAGGCTGCCCCAG -3'
Sequencing Primer
(F):5'- TGGATACTGTTTTCCTAATCCAATTC -3'
(R):5'- AGCTTCTCTCAGTGATTCCAATG -3'
|
Posted On |
2019-10-07 |