Incidental Mutation 'R7132:Cfap61'
| ID |
552730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap61
|
| Ensembl Gene |
ENSMUSG00000037143 |
| Gene Name |
cilia and flagella associated protein 61 |
| Synonyms |
4930529M08Rik |
| MMRRC Submission |
045217-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7132 (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 145951870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 784
(N784I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000125223]
[ENSMUST00000133433]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125223
AA Change: N177I
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121560
Gene: ENSMUSG00000037143
AA Change: N177I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133433
AA Change: N784I
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118411
Gene: ENSMUSG00000037143
AA Change: N784I
| 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 |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
C |
T |
10: 69,825,744 (GRCm39) |
A1471V |
|
Het |
| Ankrd12 |
C |
A |
17: 66,290,242 (GRCm39) |
M1730I |
probably benign |
Het |
| Ap2a2 |
T |
C |
7: 141,199,478 (GRCm39) |
Y462H |
probably benign |
Het |
| Ap5b1 |
T |
A |
19: 5,619,412 (GRCm39) |
Y277* |
probably null |
Het |
| App |
T |
C |
16: 84,853,370 (GRCm39) |
D236G |
unknown |
Het |
| Arid2 |
A |
T |
15: 96,247,894 (GRCm39) |
K102I |
possibly damaging |
Het |
| Asl |
A |
G |
5: 130,043,543 (GRCm39) |
V211A |
possibly damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cbx2 |
A |
G |
11: 118,913,947 (GRCm39) |
S5G |
probably benign |
Het |
| Ccdc183 |
A |
G |
2: 25,506,542 (GRCm39) |
|
probably null |
Het |
| Cd72 |
T |
C |
4: 43,452,444 (GRCm39) |
Q183R |
possibly damaging |
Het |
| Cdh26 |
T |
A |
2: 178,128,555 (GRCm39) |
D702E |
possibly damaging |
Het |
| Cgrrf1 |
G |
A |
14: 47,091,321 (GRCm39) |
V282M |
probably damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cobll1 |
T |
G |
2: 64,964,112 (GRCm39) |
K170Q |
probably damaging |
Het |
| Copg2 |
A |
T |
6: 30,792,931 (GRCm39) |
V468D |
probably benign |
Het |
| Cracr2b |
C |
T |
7: 141,043,651 (GRCm39) |
A84V |
probably benign |
Het |
| Cyp2f2 |
A |
T |
7: 26,831,993 (GRCm39) |
D416V |
probably benign |
Het |
| Dcaf10 |
T |
C |
4: 45,342,391 (GRCm39) |
F75S |
probably benign |
Het |
| Eml3 |
G |
T |
19: 8,918,392 (GRCm39) |
A829S |
probably benign |
Het |
| Entpd3 |
A |
G |
9: 120,390,086 (GRCm39) |
T402A |
probably benign |
Het |
| Fer1l4 |
A |
T |
2: 155,887,546 (GRCm39) |
V550E |
probably damaging |
Het |
| Fgb |
G |
A |
3: 82,954,053 (GRCm39) |
R62* |
probably null |
Het |
| Fubp1 |
T |
A |
3: 151,937,661 (GRCm39) |
|
probably null |
Het |
| Gdf3 |
A |
C |
6: 122,583,283 (GRCm39) |
D361E |
probably damaging |
Het |
| Gm6685 |
A |
T |
11: 28,289,330 (GRCm39) |
I162N |
probably damaging |
Het |
| Hmx2 |
A |
G |
7: 131,157,645 (GRCm39) |
Y253C |
probably damaging |
Het |
| Ints2 |
G |
T |
11: 86,108,580 (GRCm39) |
N922K |
probably benign |
Het |
| Ipo7 |
C |
T |
7: 109,653,254 (GRCm39) |
L984F |
probably benign |
Het |
| Itgae |
A |
T |
11: 73,002,184 (GRCm39) |
Y96F |
possibly damaging |
Het |
| Kalrn |
A |
G |
16: 34,076,597 (GRCm39) |
V697A |
unknown |
Het |
| Kctd18 |
G |
A |
1: 58,006,737 (GRCm39) |
R38* |
probably null |
Het |
| Kdm5b |
A |
G |
1: 134,526,844 (GRCm39) |
D322G |
probably damaging |
Het |
| Ldb3 |
A |
G |
14: 34,298,992 (GRCm39) |
Y211H |
probably benign |
Het |
| Limch1 |
T |
C |
5: 67,111,028 (GRCm39) |
F85S |
probably damaging |
Het |
| Lrrn4 |
A |
T |
2: 132,721,613 (GRCm39) |
L68* |
probably null |
Het |
| Lrwd1 |
A |
G |
5: 136,152,129 (GRCm39) |
V616A |
possibly damaging |
Het |
| Nars1 |
A |
G |
18: 64,640,841 (GRCm39) |
|
probably null |
Het |
| Nradd |
T |
C |
9: 110,451,329 (GRCm39) |
D13G |
probably benign |
Het |
| Oacyl |
A |
T |
18: 65,831,480 (GRCm39) |
N39I |
probably damaging |
Het |
| Onecut2 |
A |
T |
18: 64,473,983 (GRCm39) |
H178L |
possibly damaging |
Het |
| Or9i14 |
T |
A |
19: 13,792,786 (GRCm39) |
Q56L |
probably benign |
Het |
| Pcdhga4 |
A |
C |
18: 37,820,430 (GRCm39) |
T660P |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
T |
A |
11: 71,942,102 (GRCm39) |
I902F |
possibly damaging |
Het |
| Plod3 |
T |
C |
5: 137,023,971 (GRCm39) |
L180S |
|
Het |
| Prrc2c |
A |
T |
1: 162,508,850 (GRCm39) |
H2354Q |
possibly damaging |
Het |
| Pth2r |
A |
G |
1: 65,361,225 (GRCm39) |
E58G |
probably benign |
Het |
| Rev1 |
G |
T |
1: 38,110,530 (GRCm39) |
D573E |
possibly damaging |
Het |
| Sec24a |
A |
T |
11: 51,605,963 (GRCm39) |
L696* |
probably null |
Het |
| Serpinb3c |
A |
G |
1: 107,204,681 (GRCm39) |
S22P |
probably damaging |
Het |
| St18 |
A |
T |
1: 6,929,351 (GRCm39) |
H81L |
|
Het |
| Stard9 |
A |
T |
2: 120,509,859 (GRCm39) |
K266* |
probably null |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Syne1 |
G |
A |
10: 5,193,180 (GRCm39) |
A3956V |
probably damaging |
Het |
| Tcp10a |
C |
T |
17: 7,612,351 (GRCm39) |
T381I |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,881,806 (GRCm39) |
V125D |
probably damaging |
Het |
| Tmc2 |
T |
C |
2: 130,074,329 (GRCm39) |
S341P |
possibly damaging |
Het |
| Tmem190 |
G |
A |
7: 4,787,224 (GRCm39) |
V143I |
probably benign |
Het |
| Trap1 |
A |
G |
16: 3,873,693 (GRCm39) |
Y288H |
probably benign |
Het |
| Trim39 |
T |
C |
17: 36,571,547 (GRCm39) |
T404A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,576,043 (GRCm39) |
K24950I |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,774,696 (GRCm39) |
N2161K |
unknown |
Het |
| Unc13b |
T |
C |
4: 43,215,757 (GRCm39) |
S19P |
probably benign |
Het |
| Uqcrc1 |
T |
A |
9: 108,778,536 (GRCm39) |
I471N |
probably damaging |
Het |
| Wbp11 |
T |
C |
6: 136,798,540 (GRCm39) |
T170A |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,152,026 (GRCm39) |
I177V |
probably benign |
Het |
| Zfp455 |
C |
A |
13: 67,347,230 (GRCm39) |
P51T |
probably damaging |
Het |
| Zfp946 |
T |
C |
17: 22,673,644 (GRCm39) |
Y133H |
probably benign |
Het |
| Zfp955a |
A |
T |
17: 33,460,589 (GRCm39) |
Y514* |
probably null |
Het |
| Zzef1 |
T |
C |
11: 72,808,697 (GRCm39) |
|
probably null |
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 |
|
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'- TCCAAGAAGTGCCTCAAAGTGG -3'
(R):5'- AAACGCTGTTTTGAAAGGCTGC -3'
Sequencing Primer
(F):5'- GAAGTGCCTCAAAGTGGTCATTCC -3'
(R):5'- GCCGTTGCAGGAACTTTAC -3'
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| Posted On |
2019-05-15 |
Incidental Mutation