Incidental Mutation 'R1413:Cfap61'
| ID |
159670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap61
|
| Ensembl Gene |
ENSMUSG00000037143 |
| Gene Name |
cilia and flagella associated protein 61 |
| Synonyms |
4930529M08Rik |
| MMRRC Submission |
039469-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1413 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
145776704-146056959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 145805363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 154
(S154T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116398]
[ENSMUST00000126415]
[ENSMUST00000130168]
[ENSMUST00000133433]
[ENSMUST00000138774]
[ENSMUST00000152515]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116398
AA Change: S238T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000112099
Gene: ENSMUSG00000037143
AA Change: S238T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1b87a_
|
183 |
237 |
1e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126415
|
| SMART Domains |
Protein: ENSMUSP00000118626
Gene: ENSMUSG00000037143
| 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: ENSMUST00000130168
|
| SMART Domains |
Protein: ENSMUSP00000121294
Gene: ENSMUSG00000037143
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
133 |
155 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138774
AA Change: S154T
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120838
Gene: ENSMUSG00000037143
AA Change: S154T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
49 |
71 |
N/A |
INTRINSIC |
|
SCOP:d1b87a_
|
99 |
153 |
2e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152515
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,573,245 (GRCm39) |
N1051D |
possibly damaging |
Het |
| Abcc9 |
A |
G |
6: 142,536,222 (GRCm39) |
V1504A |
probably damaging |
Het |
| Actr6 |
A |
T |
10: 89,564,019 (GRCm39) |
Y84* |
probably null |
Het |
| Adgrl3 |
T |
C |
5: 81,841,366 (GRCm39) |
Y816H |
probably damaging |
Het |
| Ahcyl2 |
T |
C |
6: 29,768,586 (GRCm39) |
|
probably benign |
Het |
| Amd1 |
A |
T |
10: 40,166,404 (GRCm39) |
C157* |
probably null |
Het |
| Ank1 |
G |
A |
8: 23,609,393 (GRCm39) |
E1362K |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,121,391 (GRCm39) |
Q1018R |
probably benign |
Het |
| Atp1a2 |
G |
A |
1: 172,106,911 (GRCm39) |
T803I |
probably damaging |
Het |
| Atr |
T |
G |
9: 95,814,495 (GRCm39) |
L2064R |
probably damaging |
Het |
| Bmp3 |
T |
A |
5: 99,020,264 (GRCm39) |
L229Q |
probably damaging |
Het |
| Ccl25 |
A |
G |
8: 4,403,892 (GRCm39) |
*54W |
probably null |
Het |
| Cdc45 |
A |
T |
16: 18,627,491 (GRCm39) |
N111K |
possibly damaging |
Het |
| Cyp2c37 |
T |
A |
19: 39,982,542 (GRCm39) |
S127T |
probably benign |
Het |
| Cyp4f40 |
T |
A |
17: 32,892,913 (GRCm39) |
D309E |
probably benign |
Het |
| D6Ertd527e |
A |
G |
6: 87,088,335 (GRCm39) |
D166G |
unknown |
Het |
| Dmbt1 |
T |
A |
7: 130,651,944 (GRCm39) |
D395E |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,370,555 (GRCm39) |
S2832G |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Fah |
T |
C |
7: 84,242,420 (GRCm39) |
D296G |
probably damaging |
Het |
| Fam83g |
A |
G |
11: 61,593,504 (GRCm39) |
N346S |
probably damaging |
Het |
| Fgl1 |
T |
A |
8: 41,644,638 (GRCm39) |
T289S |
possibly damaging |
Het |
| Fmo1 |
A |
C |
1: 162,661,431 (GRCm39) |
L284R |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,395,430 (GRCm39) |
M1819K |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,818,762 (GRCm39) |
L4832M |
possibly damaging |
Het |
| Fut1 |
T |
C |
7: 45,268,852 (GRCm39) |
W269R |
probably damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,723,955 (GRCm39) |
Y638H |
probably damaging |
Het |
| Gp2 |
T |
A |
7: 119,050,853 (GRCm39) |
I293F |
probably benign |
Het |
| Gpi1 |
T |
C |
7: 33,929,580 (GRCm39) |
N20S |
probably benign |
Het |
| Gxylt1 |
C |
T |
15: 93,152,273 (GRCm39) |
R222H |
probably damaging |
Het |
| Hemgn |
T |
C |
4: 46,396,091 (GRCm39) |
K382E |
possibly damaging |
Het |
| Hook3 |
T |
A |
8: 26,528,134 (GRCm39) |
E585D |
probably damaging |
Het |
| Irf6 |
G |
A |
1: 192,851,613 (GRCm39) |
M401I |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,085,529 (GRCm39) |
T2259A |
probably damaging |
Het |
| Lactb |
T |
A |
9: 66,878,201 (GRCm39) |
R209S |
probably damaging |
Het |
| Lonp2 |
A |
G |
8: 87,368,212 (GRCm39) |
D342G |
probably damaging |
Het |
| Mmachc |
T |
C |
4: 116,563,194 (GRCm39) |
S54G |
probably damaging |
Het |
| Mpp7 |
C |
A |
18: 7,350,977 (GRCm39) |
W573C |
probably damaging |
Het |
| Or13e8 |
T |
A |
4: 43,697,011 (GRCm39) |
H54L |
possibly damaging |
Het |
| Or5w1b |
T |
A |
2: 87,476,182 (GRCm39) |
Y95F |
probably benign |
Het |
| Or6b2b |
A |
T |
1: 92,418,610 (GRCm39) |
I289N |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,764,124 (GRCm39) |
D462E |
probably benign |
Het |
| Pcdh12 |
A |
T |
18: 38,416,496 (GRCm39) |
F210I |
probably damaging |
Het |
| Ppp1r12c |
A |
G |
7: 4,487,443 (GRCm39) |
|
probably null |
Het |
| Prkce |
T |
A |
17: 86,803,446 (GRCm39) |
D448E |
possibly damaging |
Het |
| Ptprb |
C |
A |
10: 116,175,584 (GRCm39) |
T1193K |
probably damaging |
Het |
| Qrfpr |
T |
A |
3: 36,236,809 (GRCm39) |
E197D |
possibly damaging |
Het |
| Rusc2 |
T |
A |
4: 43,416,568 (GRCm39) |
C625S |
probably benign |
Het |
| Shcbp1 |
T |
G |
8: 4,791,968 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spag5 |
T |
A |
11: 78,196,143 (GRCm39) |
C449* |
probably null |
Het |
| Stpg3 |
T |
C |
2: 25,103,862 (GRCm39) |
D158G |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 177,989,590 (GRCm39) |
Y1423C |
probably benign |
Het |
| Tiprl |
C |
T |
1: 165,043,359 (GRCm39) |
E256K |
possibly damaging |
Het |
| Tmem132c |
T |
A |
5: 127,640,631 (GRCm39) |
V934D |
probably damaging |
Het |
| Topors |
A |
G |
4: 40,261,982 (GRCm39) |
V434A |
probably benign |
Het |
| Usp11 |
A |
G |
X: 20,584,946 (GRCm39) |
Y731C |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,387 (GRCm39) |
I419L |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,139,422 (GRCm39) |
R72L |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,426,201 (GRCm39) |
D2525G |
unknown |
Het |
| Zfp280c |
A |
G |
X: 47,652,715 (GRCm39) |
V285A |
probably benign |
Het |
| Zfp511 |
T |
A |
7: 139,617,528 (GRCm39) |
F177I |
probably damaging |
Het |
| Zfp964 |
A |
G |
8: 70,115,720 (GRCm39) |
M107V |
unknown |
Het |
| Zmynd11 |
A |
G |
13: 9,760,256 (GRCm39) |
Y122H |
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 |
|
|
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 |
|
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'- TGGAGCAAACCCTAAACTGAAGGC -3'
(R):5'- GGCATTACCTAGAAGGGTGTGCAG -3'
Sequencing Primer
(F):5'- CTTTCTGTTTCACAGGGTAGAAGAC -3'
(R):5'- gaaaggtgaacaggaagtagaaag -3'
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| Posted On |
2014-03-14 |
Incidental Mutation