Incidental Mutation 'R7390:Cfap61'
| ID |
573342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap61
|
| Ensembl Gene |
ENSMUSG00000037143 |
| Gene Name |
cilia and flagella associated protein 61 |
| Synonyms |
4930529M08Rik |
| MMRRC Submission |
045472-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7390 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
145776704-146056959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 145843802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 296
(V296A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126415]
[ENSMUST00000133433]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126415
AA Change: V296A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000118626
Gene: ENSMUSG00000037143
AA Change: V296A
| 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
AA Change: V296A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000118411
Gene: ENSMUSG00000037143
AA Change: V296A
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
97% (66/68) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
T |
13: 60,992,152 (GRCm39) |
D291E |
probably benign |
Het |
| Abca9 |
C |
T |
11: 110,036,487 (GRCm39) |
V541I |
probably benign |
Het |
| Adamts15 |
A |
T |
9: 30,822,404 (GRCm39) |
|
probably null |
Het |
| Adgrg7 |
A |
G |
16: 56,553,207 (GRCm39) |
I630T |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,980,569 (GRCm39) |
I618V |
probably benign |
Het |
| Amotl2 |
T |
A |
9: 102,608,889 (GRCm39) |
V801E |
probably damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,430,779 (GRCm39) |
T1002A |
probably benign |
Het |
| Bmp7 |
C |
T |
2: 172,711,998 (GRCm39) |
D409N |
probably damaging |
Het |
| Bpifb2 |
A |
G |
2: 153,731,726 (GRCm39) |
N293S |
possibly damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,510,044 (GRCm39) |
C854R |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,736,304 (GRCm39) |
E1225G |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,741,833 (GRCm39) |
E2146G |
possibly damaging |
Het |
| Ces1a |
A |
C |
8: 93,771,469 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
T |
G |
1: 172,368,925 (GRCm39) |
D444E |
probably benign |
Het |
| Cgnl1 |
C |
T |
9: 71,552,931 (GRCm39) |
R1011H |
probably benign |
Het |
| Cops4 |
C |
T |
5: 100,691,741 (GRCm39) |
R347C |
probably damaging |
Het |
| D16Ertd472e |
G |
T |
16: 78,344,576 (GRCm39) |
D177E |
probably benign |
Het |
| Dcdc2a |
T |
C |
13: 25,291,600 (GRCm39) |
V195A |
possibly damaging |
Het |
| Dipk2a |
A |
G |
9: 94,419,436 (GRCm39) |
S165P |
probably damaging |
Het |
| Dpagt1 |
G |
A |
9: 44,243,319 (GRCm39) |
V285I |
probably benign |
Het |
| Dspp |
G |
T |
5: 104,323,552 (GRCm39) |
A232S |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,615,411 (GRCm39) |
I726T |
possibly damaging |
Het |
| Ephx2 |
G |
A |
14: 66,347,904 (GRCm39) |
|
|
Het |
| Fat1 |
T |
C |
8: 45,405,511 (GRCm39) |
V754A |
possibly damaging |
Het |
| Fstl3 |
G |
A |
10: 79,615,865 (GRCm39) |
C117Y |
probably damaging |
Het |
| Gldc |
A |
T |
19: 30,077,314 (GRCm39) |
S953T |
possibly damaging |
Het |
| Gm1123 |
T |
C |
9: 98,893,033 (GRCm39) |
N315S |
probably benign |
Het |
| Golga2 |
A |
G |
2: 32,178,202 (GRCm39) |
E37G |
|
Het |
| Gpr139 |
T |
A |
7: 118,743,835 (GRCm39) |
Q250L |
probably benign |
Het |
| Grik3 |
C |
T |
4: 125,543,532 (GRCm39) |
R283C |
probably damaging |
Het |
| Haao |
A |
C |
17: 84,154,081 (GRCm39) |
V22G |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,266,490 (GRCm39) |
F1884I |
probably damaging |
Het |
| Hyal3 |
G |
A |
9: 107,462,166 (GRCm39) |
G67S |
probably damaging |
Het |
| Kbtbd3 |
T |
A |
9: 4,330,424 (GRCm39) |
I266K |
probably benign |
Het |
| Klhl26 |
A |
C |
8: 70,905,499 (GRCm39) |
L137R |
probably damaging |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Lars1 |
A |
G |
18: 42,343,083 (GRCm39) |
|
probably null |
Het |
| Lats1 |
C |
T |
10: 7,577,859 (GRCm39) |
Q328* |
probably null |
Het |
| Lingo3 |
G |
A |
10: 80,670,463 (GRCm39) |
T489I |
probably damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,066,261 (GRCm39) |
V65A |
possibly damaging |
Het |
| Lysmd1 |
T |
C |
3: 95,045,795 (GRCm39) |
S211P |
probably damaging |
Het |
| Med15 |
C |
T |
16: 17,540,626 (GRCm39) |
S21N |
unknown |
Het |
| Nav1 |
T |
C |
1: 135,512,656 (GRCm39) |
T135A |
probably benign |
Het |
| Nt5c1a |
G |
C |
4: 123,102,272 (GRCm39) |
R66T |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,732,024 (GRCm39) |
Y3509H |
unknown |
Het |
| Pkp4 |
G |
A |
2: 59,140,484 (GRCm39) |
G397R |
possibly damaging |
Het |
| Ppp1r21 |
G |
A |
17: 88,856,958 (GRCm39) |
A138T |
probably benign |
Het |
| Pum3 |
A |
T |
19: 27,401,642 (GRCm39) |
V136D |
probably benign |
Het |
| Rab11fip3 |
A |
T |
17: 26,287,126 (GRCm39) |
D342E |
possibly damaging |
Het |
| Rcvrn |
T |
A |
11: 67,590,883 (GRCm39) |
W156R |
probably damaging |
Het |
| Rspry1 |
C |
T |
8: 95,349,813 (GRCm39) |
T67I |
probably benign |
Het |
| Serpina1d |
T |
C |
12: 103,734,037 (GRCm39) |
D89G |
possibly damaging |
Het |
| Sgsm3 |
T |
A |
15: 80,893,021 (GRCm39) |
V366E |
possibly damaging |
Het |
| Shank3 |
T |
G |
15: 89,433,515 (GRCm39) |
L1420R |
probably benign |
Het |
| Sirpb1b |
A |
T |
3: 15,608,100 (GRCm39) |
L215* |
probably null |
Het |
| Slc16a13 |
C |
T |
11: 70,109,797 (GRCm39) |
V235I |
probably benign |
Het |
| Slc16a14 |
T |
C |
1: 84,907,187 (GRCm39) |
D29G |
probably benign |
Het |
| Speer1a |
T |
C |
5: 11,394,879 (GRCm39) |
V122A |
probably benign |
Het |
| Spns2 |
T |
A |
11: 72,347,704 (GRCm39) |
T329S |
possibly damaging |
Het |
| Sufu |
G |
A |
19: 46,439,108 (GRCm39) |
|
probably null |
Het |
| Tll2 |
A |
G |
19: 41,108,608 (GRCm39) |
|
probably null |
Het |
| Trim10 |
G |
A |
17: 37,180,773 (GRCm39) |
M1I |
probably null |
Het |
| Trim42 |
A |
C |
9: 97,241,182 (GRCm39) |
N683K |
probably damaging |
Het |
| Trmt5 |
A |
G |
12: 73,328,394 (GRCm39) |
S270P |
probably damaging |
Het |
| Vmn1r59 |
C |
A |
7: 5,456,986 (GRCm39) |
R258L |
possibly damaging |
Het |
| Vmn2r32 |
A |
G |
7: 7,482,851 (GRCm39) |
L41S |
probably benign |
Het |
| Vmn2r93 |
A |
T |
17: 18,525,329 (GRCm39) |
E329V |
probably damaging |
Het |
| Ywhae |
G |
T |
11: 75,655,487 (GRCm39) |
E253* |
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 |
|
R7132:Cfap61
|
UTSW |
2 |
145,951,870 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7312:Cfap61
|
UTSW |
2 |
145,887,390 (GRCm39) |
nonsense |
probably null |
|
|
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'- TGTCTCAATGAGGGTCAGGG -3'
(R):5'- GAGGCTTGCCCTTTATGAACTTAC -3'
Sequencing Primer
(F):5'- AGCTGCAAAGCCCTGTG -3'
(R):5'- GCCCTTTATGAACTTACCCGATC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation